gene_symbol MANE_transcript ClinVar_PL_record_count cds_count splice_window_10bp_count utr_count intron_count exon_count unit_count best_single_exon_unit_id best_single_exon_coverage_fraction best_single_exon_donor_size_bp best_adjacent_exon_block_unit_id best_adjacent_exon_block_coverage_fraction best_adjacent_exon_block_donor_size_bp best_boundary_CDS_unit_id best_boundary_CDS_coverage_fraction best_boundary_CDS_payload_size_bp semantic_class_prePAExact mechanism_or_context_caution_class semantic_panel_role semantic_note mode_recommendation_status interpretation_limit not_total_score A2ML1 ENST00000299698.12 1 1 0 0 0 36 204 A2ML1:single_exon:E1 1.000000 93 A2ML1:exon_block:E1-E2 1.000000 277 A2ML1:boundary_CDS_coverage:after_E34 0.000000 38 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true A4GALT ENST00000642412.2 1 1 0 0 0 3 8 A4GALT:single_exon:E3 1.000000 1877 A4GALT:exon_block:E2-E3 1.000000 2018 A4GALT:boundary_CDS_coverage:after_E1 1.000000 1059 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AAAS ENST00000209873.9 103 74 45 0 29 16 85 AAAS:single_exon:E9 0.087379 125 AAAS:exon_block:E8-E12 0.368932 492 AAAS:boundary_CDS_coverage:after_E1 0.932039 1515 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AAGAB ENST00000261880.10 21 16 5 0 5 10 49 AAGAB:single_exon:E4 0.238095 90 AAGAB:exon_block:E1-E5 0.809524 565 AAGAB:boundary_CDS_coverage:after_E1 0.857143 872 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AAR2 ENST00000320849.9 1 1 0 0 0 4 13 AAR2:single_exon:E2 1.000000 805 AAR2:exon_block:E1-E2 1.000000 831 AAR2:boundary_CDS_coverage:after_E1 1.000000 1152 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AARS1 ENST00000261772.13 83 73 26 0 10 21 115 AARS1:single_exon:E8 0.156627 109 AARS1:exon_block:E4-E8 0.373494 738 AARS1:boundary_CDS_coverage:after_E1 1.000000 2904 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AARS2 ENST00000244571.5 71 60 19 0 11 22 121 AARS2:single_exon:E1 0.098592 267 AARS2:exon_block:E1-E5 0.366197 918 AARS2:boundary_CDS_coverage:after_E1 0.901408 2712 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AASS ENST00000417368.7 20 16 7 0 4 24 133 AASS:single_exon:E22 0.100000 89 AASS:exon_block:E19-E23 0.400000 646 AASS:boundary_CDS_coverage:after_E1 1.000000 2778 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABAT ENST00000268251.13 39 28 17 0 11 16 85 ABAT:single_exon:E10 0.153846 64 ABAT:exon_block:E10-E14 0.461538 666 ABAT:boundary_CDS_coverage:after_E1 1.000000 1500 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA1 ENST00000374736.8 76 58 21 0 18 50 289 ABCA1:single_exon:E14 0.144737 177 ABCA1:exon_block:E13-E16 0.263158 828 ABCA1:boundary_CDS_coverage:after_E1 1.000000 6783 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA12 ENST00000272895.12 206 152 75 0 54 53 307 ABCA12:single_exon:E33 0.048544 151 ABCA12:exon_block:E33-E37 0.140777 713 ABCA12:boundary_CDS_coverage:after_E1 0.995146 7716 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA13 ENST00000435803.6 4 3 2 0 1 62 361 ABCA13:single_exon:E17 0.500000 4779 ABCA13:exon_block:E36-E39 0.500000 735 ABCA13:boundary_CDS_coverage:after_E16 1.000000 13054 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA2 ENST00000341511.11 14 11 5 0 3 49 283 ABCA2:single_exon:E27 0.214286 237 ABCA2:exon_block:E27-E31 0.357143 1078 ABCA2:boundary_CDS_coverage:after_E6 1.000000 6741 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA3 ENST00000301732.10 135 114 36 0 21 33 187 ABCA3:single_exon:E12 0.081481 182 ABCA3:exon_block:E5-E9 0.237037 936 ABCA3:boundary_CDS_coverage:after_E4 1.000000 5058 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA4 ENST00000370225.4 1464 1217 415 0 247 50 289 ABCA4:single_exon:E13 0.043716 177 ABCA4:exon_block:E12-E16 0.148907 1033 ABCA4:boundary_CDS_coverage:after_E1 0.987022 6753 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA5 ENST00000392676.8 5 5 1 0 0 39 223 ABCA5:single_exon:E33 0.200000 76 ABCA5:exon_block:E17-E19 0.400000 462 ABCA5:boundary_CDS_coverage:after_E2 1.000000 4824 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA7 ENST00000263094.11 18 15 7 0 3 47 271 ABCA7:single_exon:E24 0.222222 203 ABCA7:exon_block:E24-E26 0.277778 357 ABCA7:boundary_CDS_coverage:after_E3 1.000000 6278 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCA8 ENST00000586539.6 1 1 0 0 0 40 229 ABCA8:single_exon:E19 1.000000 120 ABCA8:exon_block:E18-E19 1.000000 260 ABCA8:boundary_CDS_coverage:after_E18 1.000000 2585 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCB1 ENST00000622132.5 4 3 2 0 1 28 157 ABCB1:single_exon:E19 0.250000 78 ABCB1:exon_block:E19-E22 0.750000 467 ABCB1:boundary_CDS_coverage:after_E6 1.000000 3310 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCB11 ENST00000650372.1 318 252 92 0 66 28 157 ABCB11:single_exon:E14 0.081761 204 ABCB11:exon_block:E13-E17 0.248428 767 ABCB11:boundary_CDS_coverage:after_E1 1.000000 3963 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCB4 ENST00000649586.2 164 129 53 1 34 28 157 ABCB4:single_exon:E13 0.085366 204 ABCB4:exon_block:E9-E13 0.250000 727 ABCB4:boundary_CDS_coverage:after_E1 1.000000 3837 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCB6 ENST00000265316.9 10 9 3 0 1 19 103 ABCB6:single_exon:E5 0.300000 184 ABCB6:exon_block:E5-E8 0.500000 482 ABCB6:boundary_CDS_coverage:after_E4 0.900000 1556 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCB7 ENST00000373394.8 10 10 2 0 0 16 85 ABCB7:single_exon:E10 0.400000 158 ABCB7:exon_block:E6-E10 0.700000 779 ABCB7:boundary_CDS_coverage:after_E4 1.000000 1803 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCC1 ENST00000399410.8 1 1 0 0 0 31 175 ABCC1:single_exon:E13 1.000000 147 ABCC1:exon_block:E13-E14 1.000000 235 ABCC1:boundary_CDS_coverage:after_E12 1.000000 2916 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCC2 ENST00000647814.1 189 148 66 0 41 32 181 ABCC2:single_exon:E25 0.079365 200 ABCC2:exon_block:E22-E26 0.248677 858 ABCC2:boundary_CDS_coverage:after_E1 1.000000 4602 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCC6 ENST00000205557.12 296 255 77 0 41 31 175 ABCC6:single_exon:E28 0.091216 159 ABCC6:exon_block:E24-E28 0.290541 735 ABCC6:boundary_CDS_coverage:after_E1 1.000000 4473 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCC8 ENST00000389817.8 476 393 154 0 83 39 223 ABCC8:single_exon:E5 0.075630 243 ABCC8:exon_block:E1-E5 0.214286 891 ABCC8:boundary_CDS_coverage:after_E1 0.945378 4595 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCC9 ENST00000261200.9 102 77 39 0 25 40 229 ABCC9:single_exon:E29 0.078431 158 ABCC9:exon_block:E25-E29 0.225490 704 ABCC9:boundary_CDS_coverage:after_E3 1.000000 4505 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCD1 ENST00000218104.6 512 468 99 1 43 10 49 ABCD1:single_exon:E1 0.416016 1311 ABCD1:exon_block:E1-E5 0.638672 1899 ABCD1:boundary_CDS_coverage:after_E1 0.593750 1335 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCD3 ENST00000370214.9 1 0 0 0 1 23 127 ABCD3:single_exon:E2 0.000000 37 ABCD3:exon_block:E2-E3 0.000000 136 ABCD3:boundary_CDS_coverage:after_E22 1.000000 75 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCD4 ENST00000356924.9 42 30 18 0 12 19 103 ABCD4:single_exon:E12 0.166667 209 ABCD4:exon_block:E3-E7 0.428571 562 ABCD4:boundary_CDS_coverage:after_E1 0.976190 1780 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCG5 ENST00000405322.8 70 42 27 0 24 13 67 ABCG5:single_exon:E11 0.128571 186 ABCG5:exon_block:E8-E12 0.428571 858 ABCG5:boundary_CDS_coverage:after_E1 0.914286 1810 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABCG8 ENST00000272286.4 60 48 24 0 12 13 67 ABCG8:single_exon:E11 0.133333 268 ABCG8:exon_block:E2-E6 0.500000 901 ABCG8:boundary_CDS_coverage:after_E1 0.966667 1956 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABHD12 ENST00000339157.10 52 40 18 0 12 13 67 ABHD12:single_exon:E12 0.192308 128 ABHD12:exon_block:E8-E12 0.423077 408 ABHD12:boundary_CDS_coverage:after_E1 0.923077 1003 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABHD16A ENST00000395952.8 7 6 6 0 1 20 109 ABHD16A:single_exon:E15 0.142857 57 ABHD16A:exon_block:E15-E18 0.571429 296 ABHD16A:boundary_CDS_coverage:after_E3 1.000000 1418 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABHD5 ENST00000644371.2 32 24 10 0 7 7 31 ABHD5:single_exon:E6 0.343750 187 ABHD5:exon_block:E2-E6 0.875000 913 ABHD5:boundary_CDS_coverage:after_E1 0.906250 1000 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ABL1 ENST00000318560.6 26 26 4 0 0 11 55 ABL1:single_exon:E4 0.307692 273 ABL1:exon_block:E4-E8 0.692308 874 ABL1:boundary_CDS_coverage:after_E1 1.000000 3311 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACACA ENST00000616317.5 2 2 0 0 0 56 325 ACACA:single_exon:E41 0.500000 147 ACACA:exon_block:E52-E53 0.500000 268 ACACA:boundary_CDS_coverage:after_E40 1.000000 2217 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACAD8 ENST00000281182.9 37 28 13 0 9 11 55 ACAD8:single_exon:E8 0.135135 98 ACAD8:exon_block:E6-E10 0.513514 628 ACAD8:boundary_CDS_coverage:after_E1 0.864865 1136 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACAD9 ENST00000308982.12 185 130 76 0 55 18 97 ACAD9:single_exon:E12 0.129730 129 ACAD9:exon_block:E12-E16 0.394595 543 ACAD9:boundary_CDS_coverage:after_E1 0.935135 1713 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACADM ENST00000370841.9 370 306 118 1 63 12 61 ACADM:single_exon:E11 0.200000 249 ACADM:exon_block:E7-E11 0.518919 726 ACADM:boundary_CDS_coverage:after_E1 0.972973 1233 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACADS ENST00000242592.9 93 76 30 0 17 10 49 ACADS:single_exon:E3 0.161290 150 ACADS:exon_block:E2-E6 0.559140 749 ACADS:boundary_CDS_coverage:after_E1 0.946237 1190 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACADSB ENST00000358776.7 42 29 17 0 13 11 55 ACADSB:single_exon:E10 0.166667 100 ACADSB:exon_block:E6-E10 0.523810 547 ACADSB:boundary_CDS_coverage:after_E1 0.976190 1254 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACADVL ENST00000356839.10 513 409 182 0 102 20 109 ACADVL:single_exon:E10 0.097466 199 ACADVL:exon_block:E6-E10 0.411306 735 ACADVL:boundary_CDS_coverage:after_E1 0.976608 1903 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACAN ENST00000560601.4 203 182 35 0 21 19 103 ACAN:single_exon:E12 0.256158 4566 ACAN:exon_block:E8-E12 0.482759 5403 ACAN:boundary_CDS_coverage:after_E1 1.000000 7704 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACAT1 ENST00000265838.9 212 167 76 0 45 12 61 ACAT1:single_exon:E11 0.146226 158 ACAT1:exon_block:E4-E8 0.476415 588 ACAT1:boundary_CDS_coverage:after_E1 0.948113 1209 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACBD5 ENST00000396271.8 24 16 10 0 8 13 67 ACBD5:single_exon:E2 0.208333 166 ACBD5:exon_block:E7-E11 0.458333 830 ACBD5:boundary_CDS_coverage:after_E1 0.958333 1560 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACBD6 ENST00000367595.4 15 6 2 0 1 8 37 ACBD6:single_exon:E1 0.200000 533 ACBD6:exon_block:E1-E5 0.466667 884 ACBD6:boundary_CDS_coverage:after_E2 0.800000 559 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACD ENST00000620761.6 5 4 3 0 1 12 61 ACD:single_exon:E3 0.400000 94 ACD:exon_block:E2-E6 1.000000 394 ACD:boundary_CDS_coverage:after_E1 1.000000 1275 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACE ENST00000290866.10 64 53 19 0 11 25 139 ACE:single_exon:E1 0.187500 283 ACE:exon_block:E5-E9 0.343750 832 ACE:boundary_CDS_coverage:after_E1 0.812500 3669 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACER3 ENST00000532485.6 6 6 3 0 0 11 55 ACER3:single_exon:E9 0.500000 105 ACER3:exon_block:E6-E9 1.000000 302 ACER3:boundary_CDS_coverage:after_E5 1.000000 399 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACKR1 ENST00000368122.4 2 1 0 1 0 2 4 ACKR1:single_exon:E1 0.500000 106 ACKR1:exon_block:E1-E2 1.000000 1146 ACKR1:boundary_CDS_coverage:after_E1 0.500000 987 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACKR3 ENST00000272928.4 1 1 0 0 0 2 4 ACKR3:single_exon:E2 1.000000 1915 ACKR3:exon_block:E1-E2 1.000000 2015 ACKR3:boundary_CDS_coverage:after_E1 1.000000 1086 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACO2 ENST00000216254.9 82 67 26 0 14 18 97 ACO2:single_exon:E15 0.109756 192 ACO2:exon_block:E12-E16 0.341463 716 ACO2:boundary_CDS_coverage:after_E1 0.975610 2304 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACOT1 ENST00000311148.9 1 1 0 0 0 3 8 ACOT1:single_exon:E1 1.000000 736 ACOT1:exon_block:E1-E2 1.000000 939 ACOT1:boundary_CDS_coverage:after_E2 0.000000 603 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACOX1 ENST00000293217.10 80 62 29 0 18 14 73 ACOX1:single_exon:E3 0.137500 161 ACOX1:exon_block:E3-E7 0.475000 675 ACOX1:boundary_CDS_coverage:after_E1 0.987500 1871 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACOX2 ENST00000302819.10 1 1 0 0 0 15 79 ACOX2:single_exon:E3 1.000000 163 ACOX2:exon_block:E3-E4 1.000000 315 ACOX2:boundary_CDS_coverage:after_E2 1.000000 1883 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACP4 ENST00000270593.2 12 11 3 0 1 11 55 ACP4:single_exon:E4 0.416667 147 ACP4:exon_block:E3-E7 0.916667 562 ACP4:boundary_CDS_coverage:after_E2 1.000000 1062 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACP5 ENST00000648477.1 38 37 7 0 1 5 19 ACP5:single_exon:E4 0.421053 346 ACP5:exon_block:E2-E5 1.000000 1328 ACP5:boundary_CDS_coverage:after_E1 1.000000 975 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACP6 ENST00000583509.7 1 1 0 0 0 10 49 ACP6:single_exon:E3 1.000000 131 ACP6:exon_block:E3-E4 1.000000 211 ACP6:boundary_CDS_coverage:after_E2 1.000000 936 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACR ENST00000216139.10 1 1 0 0 0 5 19 ACR:single_exon:E2 1.000000 204 ACR:exon_block:E1-E2 1.000000 313 ACR:boundary_CDS_coverage:after_E1 1.000000 1186 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACSF3 ENST00000614302.5 186 154 48 0 32 11 55 ACSF3:single_exon:E3 0.263441 686 ACSF3:exon_block:E3-E7 0.645161 1259 ACSF3:boundary_CDS_coverage:after_E1 1.000000 1728 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACSL4 ENST00000672401.1 14 12 5 0 2 16 85 ACSL4:single_exon:E14 0.142857 115 ACSL4:exon_block:E7-E11 0.571429 660 ACSL4:boundary_CDS_coverage:after_E3 1.000000 1782 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACSL5 ENST00000354655.9 1 1 0 0 0 21 115 ACSL5:single_exon:E15 1.000000 73 ACSL5:exon_block:E15-E16 1.000000 162 ACSL5:boundary_CDS_coverage:after_E14 1.000000 735 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACSM3 ENST00000289416.10 8 0 0 0 0 14 73 ACSM3:single_exon:E7 0.000000 80 ACSM3:exon_block:E9-E10 0.000000 183 ACSM3:boundary_CDS_coverage:after_E13 0.000000 84 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTA1 ENST00000366684.7 230 221 36 1 8 7 31 ACTA1:single_exon:E3 0.343478 325 ACTA1:exon_block:E3-E7 0.908696 1259 ACTA1:boundary_CDS_coverage:after_E1 1.000000 1131 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTA2 ENST00000224784.10 40 35 13 0 4 9 43 ACTA2:single_exon:E3 0.225000 129 ACTA2:exon_block:E2-E6 0.725000 639 ACTA2:boundary_CDS_coverage:after_E1 0.975000 1131 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTB ENST00000646664.1 137 134 17 1 2 6 25 ACTB:single_exon:E4 0.372263 439 ACTB:exon_block:E2-E6 1.000000 1734 ACTB:boundary_CDS_coverage:after_E1 1.000000 1125 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTC1 ENST00000290378.6 22 22 2 0 0 7 31 ACTC1:single_exon:E5 0.318182 192 ACTC1:exon_block:E3-E7 1.000000 1187 ACTC1:boundary_CDS_coverage:after_E2 1.000000 1002 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTG1 ENST00000573283.7 59 59 7 0 0 6 25 ACTG1:single_exon:E4 0.525424 439 ACTG1:exon_block:E2-E6 1.000000 1853 ACTG1:boundary_CDS_coverage:after_E1 1.000000 1125 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTG2 ENST00000345517.8 42 41 10 0 1 9 43 ACTG2:single_exon:E6 0.309524 162 ACTG2:exon_block:E2-E6 0.809524 649 ACTG2:boundary_CDS_coverage:after_E1 1.000000 1128 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTL6B ENST00000160382.10 54 48 20 1 5 14 73 ACTL6B:single_exon:E12 0.148148 96 ACTL6B:exon_block:E10-E14 0.500000 609 ACTL6B:boundary_CDS_coverage:after_E1 0.981481 1253 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTL7A ENST00000333999.5 7 7 0 0 0 1 1 ACTL7A:single_exon:E1 1.000000 1491 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTL9 ENST00000324436.5 3 3 0 0 0 1 1 ACTL9:single_exon:E1 1.000000 1396 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTN1 ENST00000394419.9 21 21 2 0 0 22 121 ACTN1:single_exon:E4 0.142857 87 ACTN1:exon_block:E1-E4 0.380952 673 ACTN1:boundary_CDS_coverage:after_E1 0.952381 2637 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTN2 ENST00000366578.6 25 20 9 0 5 21 115 ACTN2:single_exon:E18 0.160000 147 ACTN2:exon_block:E15-E18 0.360000 645 ACTN2:boundary_CDS_coverage:after_E1 1.000000 2556 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTN4 ENST00000252699.7 17 17 1 0 0 21 115 ACTN4:single_exon:E8 0.294118 86 ACTN4:exon_block:E4-E8 0.882353 422 ACTN4:boundary_CDS_coverage:after_E1 1.000000 2571 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTR2 ENST00000260641.10 1 1 0 0 0 9 43 ACTR2:single_exon:E7 1.000000 146 ACTR2:exon_block:E7-E8 1.000000 279 ACTR2:boundary_CDS_coverage:after_E6 1.000000 447 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACTRT3 ENST00000330368.3 1 0 0 0 0 2 4 ACTRT3:single_exon:E1 0.000000 241 ACTRT3:exon_block:E1-E2 0.000000 1671 ACTRT3:boundary_CDS_coverage:after_E1 1.000000 916 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACVR1 ENST00000434821.7 10 10 1 0 0 11 55 ACVR1:single_exon:E6 0.300000 100 ACVR1:exon_block:E6-E9 1.000000 721 ACVR1:boundary_CDS_coverage:after_E5 1.000000 984 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACVR1B ENST00000257963.9 3 2 0 0 1 9 43 ACVR1B:single_exon:E7 0.333333 125 ACVR1B:exon_block:E5-E7 0.666667 450 ACVR1B:boundary_CDS_coverage:after_E4 1.000000 704 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACVR2B ENST00000352511.5 2 2 0 0 0 11 55 ACVR2B:single_exon:E9 1.000000 139 ACVR2B:exon_block:E8-E9 1.000000 254 ACVR2B:boundary_CDS_coverage:after_E8 1.000000 462 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACVRL1 ENST00000388922.9 546 495 95 0 51 10 49 ACVRL1:single_exon:E7 0.245421 276 ACVRL1:exon_block:E3-E7 0.672161 987 ACVRL1:boundary_CDS_coverage:after_E1 1.000000 1509 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ACY1 ENST00000636358.2 12 10 7 0 2 15 79 ACY1:single_exon:E8 0.166667 57 ACY1:exon_block:E6-E9 0.500000 298 ACY1:boundary_CDS_coverage:after_E3 1.000000 1065 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADA ENST00000372874.9 164 124 63 0 40 12 61 ADA:single_exon:E5 0.170732 116 ADA:exon_block:E4-E8 0.548780 562 ADA:boundary_CDS_coverage:after_E1 0.975610 1056 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADA2 ENST00000399837.8 89 71 26 0 18 10 49 ADA2:single_exon:E2 0.224719 368 ADA2:exon_block:E2-E6 0.595506 1018 ADA2:boundary_CDS_coverage:after_E1 1.000000 1533 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAD2 ENST00000315906.10 1 1 0 0 0 10 49 ADAD2:single_exon:E2 1.000000 141 ADAD2:exon_block:E2-E3 1.000000 189 ADAD2:boundary_CDS_coverage:after_E1 1.000000 1331 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAM10 ENST00000260408.8 4 4 1 0 0 16 85 ADAM10:single_exon:E11 0.250000 151 ADAM10:exon_block:E10-E12 0.750000 519 ADAM10:boundary_CDS_coverage:after_E3 1.000000 1919 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAM17 ENST00000310823.8 26 18 13 0 8 19 103 ADAM17:single_exon:E16 0.115385 79 ADAM17:exon_block:E9-E13 0.423077 691 ADAM17:boundary_CDS_coverage:after_E2 1.000000 2242 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAM22 ENST00000413139.2 9 7 2 0 2 32 181 ADAM22:single_exon:E14 0.222222 52 ADAM22:exon_block:E23-E27 0.444444 588 ADAM22:boundary_CDS_coverage:after_E13 1.000000 1724 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAM9 ENST00000487273.7 29 20 12 0 9 22 121 ADAM9:single_exon:E6 0.172414 196 ADAM9:exon_block:E5-E9 0.413793 581 ADAM9:boundary_CDS_coverage:after_E1 0.965517 2360 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS1 ENST00000284984.8 1 1 0 0 0 9 43 ADAMTS1:single_exon:E4 1.000000 168 ADAMTS1:exon_block:E3-E4 1.000000 301 ADAMTS1:boundary_CDS_coverage:after_E3 1.000000 1691 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS10 ENST00000597188.6 37 30 10 0 7 26 145 ADAMTS10:single_exon:E6 0.135135 218 ADAMTS10:exon_block:E6-E10 0.270270 598 ADAMTS10:boundary_CDS_coverage:after_E3 1.000000 3221 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS13 ENST00000355699.7 125 104 34 0 21 29 163 ADAMTS13:single_exon:E7 0.072000 138 ADAMTS13:exon_block:E23-E27 0.248000 863 ADAMTS13:boundary_CDS_coverage:after_E1 0.960000 4008 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS15 ENST00000299164.4 5 3 2 0 2 8 37 ADAMTS15:single_exon:E7 0.400000 176 ADAMTS15:exon_block:E7-E8 0.800000 3775 ADAMTS15:boundary_CDS_coverage:after_E6 0.800000 948 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS16 ENST00000274181.7 1 1 0 0 0 23 127 ADAMTS16:single_exon:E12 1.000000 149 ADAMTS16:exon_block:E11-E12 1.000000 245 ADAMTS16:boundary_CDS_coverage:after_E11 1.000000 1971 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS17 ENST00000268070.9 67 49 22 0 18 22 121 ADAMTS17:single_exon:E2 0.104478 371 ADAMTS17:exon_block:E17-E21 0.343284 832 ADAMTS17:boundary_CDS_coverage:after_E1 1.000000 3206 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS18 ENST00000282849.10 58 46 14 0 12 23 127 ADAMTS18:single_exon:E4 0.172414 283 ADAMTS18:exon_block:E2-E6 0.379310 966 ADAMTS18:boundary_CDS_coverage:after_E1 1.000000 3573 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS19 ENST00000274487.9 9 7 2 0 2 23 127 ADAMTS19:single_exon:E12 0.444444 131 ADAMTS19:exon_block:E8-E12 0.555556 631 ADAMTS19:boundary_CDS_coverage:after_E1 1.000000 3548 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS2 ENST00000251582.12 125 111 36 0 14 22 121 ADAMTS2:single_exon:E1 0.200000 272 ADAMTS2:exon_block:E1-E5 0.440000 1108 ADAMTS2:boundary_CDS_coverage:after_E1 0.808000 3494 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS3 ENST00000286657.10 3 3 2 0 0 22 121 ADAMTS3:single_exon:E3 0.666667 407 ADAMTS3:exon_block:E3-E6 1.000000 848 ADAMTS3:boundary_CDS_coverage:after_E2 1.000000 3518 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS6 ENST00000381055.8 1 1 0 0 0 25 139 ADAMTS6:single_exon:E22 1.000000 205 ADAMTS6:exon_block:E21-E22 1.000000 335 ADAMTS6:boundary_CDS_coverage:after_E21 1.000000 646 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTS9 ENST00000498707.5 1 1 0 0 0 40 228 ADAMTS9:single_exon:E30 1.000000 174 ADAMTS9:exon_block:E29-E30 1.000000 342 ADAMTS9:boundary_CDS_coverage:after_E29 1.000000 1281 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTSL2 ENST00000651351.2 22 20 4 0 2 19 103 ADAMTSL2:single_exon:E6 0.272727 146 ADAMTSL2:exon_block:E3-E7 0.590909 592 ADAMTSL2:boundary_CDS_coverage:after_E2 1.000000 2763 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAMTSL4 ENST00000271643.9 166 147 41 0 19 19 103 ADAMTSL4:single_exon:E6 0.180723 697 ADAMTSL4:exon_block:E5-E9 0.409639 1498 ADAMTSL4:boundary_CDS_coverage:after_E3 1.000000 3202 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAR ENST00000368474.9 111 93 27 0 18 15 79 ADAR:single_exon:E2 0.369369 1586 ADAR:exon_block:E2-E6 0.540541 2255 ADAR:boundary_CDS_coverage:after_E1 1.000000 3663 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADARB1 ENST00000348831.9 6 6 1 0 0 11 55 ADARB1:single_exon:E6 0.166667 169 ADARB1:exon_block:E6-E10 0.666667 848 ADARB1:boundary_CDS_coverage:after_E3 1.000000 2075 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADAT3 ENST00000329478.4 5 5 0 0 0 2 4 ADAT3:single_exon:E2 1.000000 1558 ADAT3:exon_block:E1-E2 1.000000 1599 ADAT3:boundary_CDS_coverage:after_E1 1.000000 1101 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADCY10 ENST00000367851.9 33 25 13 0 8 33 187 ADCY10:single_exon:E28 0.090909 97 ADCY10:exon_block:E25-E29 0.272727 751 ADCY10:boundary_CDS_coverage:after_E3 1.000000 4577 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADCY3 ENST00000679454.1 10 6 4 0 4 22 121 ADCY3:single_exon:E10 0.200000 143 ADCY3:exon_block:E7-E10 0.400000 609 ADCY3:boundary_CDS_coverage:after_E1 1.000000 3432 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADCY5 ENST00000462833.6 57 49 15 0 8 21 115 ADCY5:single_exon:E1 0.280702 1679 ADCY5:exon_block:E1-E5 0.491228 2191 ADCY5:boundary_CDS_coverage:after_E1 0.719298 2649 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADCY6 ENST00000357869.8 3 2 1 0 1 22 121 ADCY6:single_exon:E21 0.333333 125 ADCY6:exon_block:E19-E21 0.666667 594 ADCY6:boundary_CDS_coverage:after_E7 1.000000 1969 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADD1 ENST00000683351.1 1 1 0 0 0 16 85 ADD1:single_exon:E2 1.000000 215 ADD1:exon_block:E2-E3 1.000000 378 ADD1:boundary_CDS_coverage:after_E1 1.000000 2397 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADD3 ENST00000356080.9 1 1 0 0 0 15 79 ADD3:single_exon:E9 1.000000 183 ADD3:exon_block:E8-E9 1.000000 282 ADD3:boundary_CDS_coverage:after_E8 1.000000 1158 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADGRB2 ENST00000373658.8 1 1 0 0 0 33 187 ADGRB2:single_exon:E30 1.000000 36 ADGRB2:exon_block:E30-E31 1.000000 135 ADGRB2:boundary_CDS_coverage:after_E29 1.000000 375 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADGRB3 ENST00000370598.6 2 2 0 0 0 32 181 ADGRB3:single_exon:E15 0.500000 76 ADGRB3:exon_block:E30-E31 0.500000 141 ADGRB3:boundary_CDS_coverage:after_E14 1.000000 2309 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADGRE2 ENST00000315576.8 1 1 0 0 0 21 115 ADGRE2:single_exon:E13 1.000000 224 ADGRE2:exon_block:E12-E13 1.000000 332 ADGRE2:boundary_CDS_coverage:after_E12 1.000000 1277 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADGRG1 ENST00000562631.7 126 105 34 0 21 14 73 ADGRG1:single_exon:E3 0.230159 423 ADGRG1:exon_block:E3-E7 0.579365 953 ADGRG1:boundary_CDS_coverage:after_E1 1.000000 2061 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADGRG2 ENST00000379869.8 11 10 1 0 1 29 163 ADGRG2:single_exon:E24 0.272727 269 ADGRG2:exon_block:E24-E28 0.454545 908 ADGRG2:boundary_CDS_coverage:after_E6 1.000000 2825 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADGRG6 ENST00000367609.8 8 7 1 0 1 25 139 ADGRG6:single_exon:E4 0.375000 624 ADGRG6:exon_block:E2-E4 0.500000 1067 ADGRG6:boundary_CDS_coverage:after_E1 1.000000 3748 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADGRL1 ENST00000361434.8 28 25 7 0 3 23 127 ADGRL1:single_exon:E5 0.178571 801 ADGRL1:exon_block:E2-E6 0.500000 1605 ADGRL1:boundary_CDS_coverage:after_E1 1.000000 4407 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADGRV1 ENST00000405460.9 650 543 167 0 106 90 529 ADGRV1:single_exon:E20 0.041538 744 ADGRV1:exon_block:E74-E78 0.098462 2047 ADGRV1:boundary_CDS_coverage:after_E1 0.998462 18896 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADH5 ENST00000296412.14 4 2 4 0 2 9 43 ADH5:single_exon:E2 0.250000 102 ADH5:exon_block:E5-E8 0.750000 756 ADH5:boundary_CDS_coverage:after_E2 1.000000 1008 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADIPOQ ENST00000320741.7 2 2 0 0 0 3 8 ADIPOQ:single_exon:E3 1.000000 4280 ADIPOQ:exon_block:E2-E3 1.000000 4502 ADIPOQ:boundary_CDS_coverage:after_E2 1.000000 518 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADIPOR1 ENST00000340990.10 1 1 0 0 0 8 37 ADIPOR1:single_exon:E7 1.000000 194 ADIPOR1:exon_block:E6-E7 1.000000 382 ADIPOR1:boundary_CDS_coverage:after_E6 1.000000 320 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADK ENST00000539909.6 13 12 1 1 0 11 55 ADK:single_exon:E7 0.384615 171 ADK:exon_block:E7-E11 0.692308 1379 ADK:boundary_CDS_coverage:after_E1 0.846154 1021 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADNP ENST00000621696.5 164 160 9 1 3 6 25 ADNP:single_exon:E6 0.865854 5595 ADNP:exon_block:E4-E6 0.993902 5801 ADNP:boundary_CDS_coverage:after_E1 1.000000 3306 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADPRS ENST00000373178.5 19 19 1 0 0 6 25 ADPRS:single_exon:E3 0.263158 208 ADPRS:exon_block:E1-E5 0.894737 815 ADPRS:boundary_CDS_coverage:after_E1 0.789474 878 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADRA2A ENST00000280155.4 1 0 0 1 0 1 1 ADRA2A:single_exon:E1 1.000000 3879 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADRA2B ENST00000620793.2 1 1 0 0 0 1 1 ADRA2B:single_exon:E1 1.000000 3696 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADRB1 ENST00000369295.4 1 1 0 0 0 1 1 ADRB1:single_exon:E1 1.000000 3039 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADSL ENST00000623063.3 71 60 21 1 10 13 67 ADSL:single_exon:E12 0.154930 177 ADSL:exon_block:E8-E12 0.464789 576 ADSL:boundary_CDS_coverage:after_E1 0.901408 1299 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ADSS1 ENST00000330877.7 30 16 12 0 14 13 67 ADSS1:single_exon:E10 0.200000 125 ADSS1:exon_block:E8-E12 0.700000 655 ADSS1:boundary_CDS_coverage:after_E1 1.000000 1179 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AEBP1 ENST00000223357.8 46 37 14 0 9 21 115 AEBP1:single_exon:E19 0.108696 140 AEBP1:exon_block:E15-E19 0.369565 993 AEBP1:boundary_CDS_coverage:after_E1 0.913043 3221 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AFAP1L2 ENST00000304129.9 1 0 0 0 0 19 103 AFAP1L2:single_exon:E1 0.000000 63 AFAP1L2:exon_block:E3-E4 0.000000 170 AFAP1L2:boundary_CDS_coverage:after_E18 1.000000 24 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AFF2 ENST00000370460.7 16 12 9 0 4 21 115 AFF2:single_exon:E14 0.187500 290 AFF2:exon_block:E14-E18 0.500000 657 AFF2:boundary_CDS_coverage:after_E1 1.000000 3886 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AFF3 ENST00000672756.2 11 11 0 0 0 25 139 AFF3:single_exon:E7 0.818182 386 AFF3:exon_block:E6-E7 0.909091 699 AFF3:boundary_CDS_coverage:after_E5 1.000000 3504 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AFF4 ENST00000265343.10 7 7 0 0 0 21 115 AFF4:single_exon:E3 1.000000 795 AFF4:exon_block:E3-E4 1.000000 840 AFF4:boundary_CDS_coverage:after_E2 1.000000 3366 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AFG2A ENST00000274008.5 98 85 25 0 13 16 85 AFG2A:single_exon:E5 0.214286 642 AFG2A:exon_block:E9-E13 0.448980 755 AFG2A:boundary_CDS_coverage:after_E1 0.969388 2516 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AFG2B ENST00000305560.11 21 20 2 0 1 8 37 AFG2B:single_exon:E1 0.285714 1183 AFG2B:exon_block:E1-E5 0.714286 1931 AFG2B:boundary_CDS_coverage:after_E1 0.714286 1170 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AFG3L2 ENST00000269143.8 66 61 11 0 5 17 91 AFG3L2:single_exon:E16 0.318182 195 AFG3L2:exon_block:E12-E16 0.545455 749 AFG3L2:boundary_CDS_coverage:after_E1 0.984848 2277 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AFP ENST00000395792.7 3 3 0 0 0 15 78 AFP:single_exon:E14 0.333333 55 AFP:exon_block:E5-E8 0.666667 576 AFP:boundary_CDS_coverage:after_E4 1.000000 1345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGA ENST00000264595.7 118 89 38 0 29 9 43 AGA:single_exon:E1 0.211864 189 AGA:exon_block:E1-E5 0.720339 684 AGA:boundary_CDS_coverage:after_E1 0.813559 911 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGBL5 ENST00000360131.5 41 36 9 0 5 15 79 AGBL5:single_exon:E10 0.170732 203 AGBL5:exon_block:E6-E10 0.609756 1145 AGBL5:boundary_CDS_coverage:after_E1 1.000000 2658 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGGF1 ENST00000312916.12 1 1 0 0 0 14 73 AGGF1:single_exon:E1 1.000000 573 AGGF1:exon_block:E1-E2 1.000000 676 AGGF1:boundary_CDS_coverage:after_E13 0.000000 198 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGK ENST00000649286.2 50 33 30 0 17 16 85 AGK:single_exon:E6 0.140000 93 AGK:exon_block:E12-E16 0.400000 2863 AGK:boundary_CDS_coverage:after_E1 1.000000 1266 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGL ENST00000361915.8 624 504 196 1 119 34 193 AGL:single_exon:E5 0.056090 204 AGL:exon_block:E3-E7 0.201923 876 AGL:boundary_CDS_coverage:after_E1 1.000000 4596 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGMAT ENST00000375826.4 1 1 1 0 0 7 31 AGMAT:single_exon:E3 1.000000 49 AGMAT:exon_block:E3-E4 1.000000 245 AGMAT:boundary_CDS_coverage:after_E2 1.000000 581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGMO ENST00000342526.8 5 3 1 0 2 13 67 AGMO:single_exon:E10 0.400000 117 AGMO:exon_block:E7-E10 0.800000 398 AGMO:boundary_CDS_coverage:after_E6 1.000000 659 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGO1 ENST00000373204.6 16 14 2 0 2 19 103 AGO1:single_exon:E5 0.375000 137 AGO1:exon_block:E5-E9 0.625000 628 AGO1:boundary_CDS_coverage:after_E4 1.000000 2059 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGO2 ENST00000220592.10 17 17 2 0 0 19 103 AGO2:single_exon:E9 0.235294 120 AGO2:exon_block:E5-E9 0.470588 628 AGO2:boundary_CDS_coverage:after_E4 1.000000 2059 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGPAT2 ENST00000371696.7 33 26 9 0 7 6 25 AGPAT2:single_exon:E4 0.212121 96 AGPAT2:exon_block:E2-E6 0.878788 1264 AGPAT2:boundary_CDS_coverage:after_E1 0.909091 652 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGPAT3 ENST00000291572.13 1 1 0 0 0 10 49 AGPAT3:single_exon:E7 1.000000 103 AGPAT3:exon_block:E7-E8 1.000000 179 AGPAT3:boundary_CDS_coverage:after_E6 1.000000 464 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGPAT5 ENST00000285518.11 1 1 0 0 0 8 37 AGPAT5:single_exon:E7 1.000000 124 AGPAT5:exon_block:E6-E7 1.000000 283 AGPAT5:boundary_CDS_coverage:after_E6 1.000000 347 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGPS ENST00000264167.11 30 22 12 0 8 20 109 AGPS:single_exon:E4 0.166667 121 AGPS:exon_block:E4-E8 0.400000 429 AGPS:boundary_CDS_coverage:after_E1 1.000000 1714 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGR2 ENST00000419304.7 8 5 4 0 3 8 37 AGR2:single_exon:E4 0.250000 53 AGR2:exon_block:E3-E7 0.875000 339 AGR2:boundary_CDS_coverage:after_E1 1.000000 525 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGRN ENST00000379370.7 67 52 16 0 13 36 205 AGRN:single_exon:E6 0.089552 225 AGRN:exon_block:E3-E7 0.268657 921 AGRN:boundary_CDS_coverage:after_E1 0.955224 5934 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGT ENST00000366667.6 17 16 3 0 1 5 19 AGT:single_exon:E2 0.470588 859 AGT:exon_block:E2-E5 1.000000 2079 AGT:boundary_CDS_coverage:after_E1 1.000000 1428 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGTPBP1 ENST00000357081.8 23 17 10 0 6 26 145 AGTPBP1:single_exon:E18 0.130435 88 AGTPBP1:exon_block:E15-E19 0.434783 553 AGTPBP1:boundary_CDS_coverage:after_E1 1.000000 3678 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGTR1 ENST00000349243.8 13 12 0 0 1 3 8 AGTR1:single_exon:E3 0.923077 2015 AGTR1:exon_block:E2-E3 0.923077 2099 AGTR1:boundary_CDS_coverage:after_E1 1.000000 1077 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AGXT ENST00000307503.4 335 275 99 0 60 11 55 AGXT:single_exon:E2 0.185075 193 AGXT:exon_block:E1-E5 0.558209 637 AGXT:boundary_CDS_coverage:after_E1 0.889552 1011 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AHCY ENST00000217426.7 19 16 5 0 3 10 49 AHCY:single_exon:E4 0.210526 150 AHCY:exon_block:E1-E5 0.789474 643 AHCY:boundary_CDS_coverage:after_E1 0.947368 1268 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AHDC1 ENST00000673934.1 175 175 0 0 0 9 42 AHDC1:single_exon:E8 1.000000 4929 AHDC1:exon_block:E7-E8 1.000000 4967 AHDC1:boundary_CDS_coverage:after_E1 1.000000 4809 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AHI1 ENST00000265602.11 268 215 78 0 53 29 162 AHI1:single_exon:E7 0.108209 560 AHI1:exon_block:E7-E11 0.320896 1251 AHI1:boundary_CDS_coverage:after_E4 1.000000 3578 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AHR ENST00000242057.9 9 7 2 0 2 11 55 AHR:single_exon:E10 0.555556 1243 AHR:exon_block:E6-E10 0.888889 1829 AHR:boundary_CDS_coverage:after_E4 1.000000 2094 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AHSG ENST00000411641.7 1 1 0 0 0 7 31 AHSG:single_exon:E7 1.000000 733 AHSG:exon_block:E6-E7 1.000000 817 AHSG:boundary_CDS_coverage:after_E6 1.000000 342 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AICDA ENST00000229335.11 35 29 7 0 6 5 19 AICDA:single_exon:E3 0.600000 271 AICDA:exon_block:E1-E5 1.000000 2803 AICDA:boundary_CDS_coverage:after_E1 1.000000 586 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AIFM1 ENST00000287295.8 47 43 12 1 3 16 85 AIFM1:single_exon:E7 0.170213 85 AIFM1:exon_block:E11-E15 0.468085 695 AIFM1:boundary_CDS_coverage:after_E1 0.978723 1733 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AIMP1 ENST00000672341.1 20 19 2 0 1 7 31 AIMP1:single_exon:E3 0.250000 114 AIMP1:exon_block:E2-E6 0.950000 797 AIMP1:boundary_CDS_coverage:after_E1 1.000000 936 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AIMP2 ENST00000223029.8 7 6 1 0 1 4 13 AIMP2:single_exon:E1 0.571429 227 AIMP2:exon_block:E1-E4 1.000000 1198 AIMP2:boundary_CDS_coverage:after_E3 0.428571 386 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AIP ENST00000279146.8 66 60 9 1 4 6 25 AIP:single_exon:E4 0.196970 177 AIP:exon_block:E1-E5 0.787879 920 AIP:boundary_CDS_coverage:after_E1 0.833333 891 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AIPL1 ENST00000381129.8 80 68 24 0 11 6 25 AIPL1:single_exon:E2 0.262500 180 AIPL1:exon_block:E2-E6 0.875000 2781 AIPL1:boundary_CDS_coverage:after_E1 0.887500 1056 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AIRE ENST00000291582.6 227 184 63 3 40 14 73 AIRE:single_exon:E1 0.162996 263 AIRE:exon_block:E1-E5 0.458150 783 AIRE:boundary_CDS_coverage:after_E1 0.845815 1503 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AK1 ENST00000644144.2 11 11 2 0 0 7 31 AK1:single_exon:E4 0.454545 164 AK1:exon_block:E4-E6 1.000000 473 AK1:boundary_CDS_coverage:after_E3 1.000000 539 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AK2 ENST00000672715.1 33 25 10 2 6 6 25 AK2:single_exon:E6 0.454545 5417 AK2:exon_block:E2-E6 0.848485 5822 AK2:boundary_CDS_coverage:after_E1 0.848485 624 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AK9 ENST00000424296.7 3 3 2 0 0 41 235 AK9:single_exon:E19 0.333333 115 AK9:exon_block:E19-E23 0.666667 636 AK9:boundary_CDS_coverage:after_E18 1.000000 3734 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AKAP19 ENST00000340623.4 1 0 0 0 0 2 4 AKAP19:single_exon:E1 0.000000 247 AKAP19:exon_block:E1-E2 0.000000 4035 AKAP19:boundary_CDS_coverage:after_E1 0.000000 285 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AKAP3 ENST00000228850.6 2 2 0 0 0 6 25 AKAP3:single_exon:E4 0.500000 96 AKAP3:exon_block:E4-E5 1.000000 2406 AKAP3:boundary_CDS_coverage:after_E1 1.000000 2559 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AKAP9 ENST00000356239.8 4 4 1 0 0 50 289 AKAP9:single_exon:E8 0.500000 2388 AKAP9:exon_block:E5-E8 0.750000 2913 AKAP9:boundary_CDS_coverage:after_E4 1.000000 11316 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AKR1C2 ENST00000380753.9 4 4 0 0 0 9 43 AKR1C2:single_exon:E8 0.250000 83 AKR1C2:exon_block:E2-E6 0.750000 596 AKR1C2:boundary_CDS_coverage:after_E1 1.000000 885 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AKR1D1 ENST00000242375.8 25 16 11 1 8 9 43 AKR1D1:single_exon:E2 0.280000 168 AKR1D1:exon_block:E2-E6 0.600000 596 AKR1D1:boundary_CDS_coverage:after_E1 1.000000 885 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AKT1 ENST00000649815.2 4 4 2 0 0 15 79 AKT1:single_exon:E4 0.750000 129 AKT1:exon_block:E4-E5 0.750000 241 AKT1:boundary_CDS_coverage:after_E3 1.000000 1394 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AKT2 ENST00000392038.7 2 2 2 0 0 14 73 AKT2:single_exon:E9 0.500000 123 AKT2:exon_block:E8-E9 0.500000 192 AKT2:boundary_CDS_coverage:after_E2 1.000000 1397 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AKT3 ENST00000673466.1 13 13 3 0 0 14 73 AKT3:single_exon:E4 0.230769 112 AKT3:exon_block:E4-E8 0.615385 524 AKT3:boundary_CDS_coverage:after_E2 1.000000 1391 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALAD ENST00000409155.8 6 2 3 0 4 12 61 ALAD:single_exon:E6 0.166667 84 ALAD:exon_block:E4-E6 0.500000 317 ALAD:boundary_CDS_coverage:after_E3 1.000000 826 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALAS2 ENST00000650242.1 50 44 6 1 5 11 55 ALAS2:single_exon:E5 0.220000 223 ALAS2:exon_block:E7-E11 0.680000 1066 ALAS2:boundary_CDS_coverage:after_E1 1.000000 1761 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALB ENST00000295897.9 20 18 9 0 2 15 78 ALB:single_exon:E1 0.200000 120 ALB:exon_block:E6-E10 0.450000 674 ALB:boundary_CDS_coverage:after_E1 0.850000 1748 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH18A1 ENST00000371224.7 59 50 16 0 9 18 97 ALDH18A1:single_exon:E4 0.152542 150 ALDH18A1:exon_block:E3-E7 0.440678 720 ALDH18A1:boundary_CDS_coverage:after_E2 1.000000 2297 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH1A2 ENST00000249750.9 4 4 0 0 0 13 67 ALDH1A2:single_exon:E5 0.250000 62 ALDH1A2:exon_block:E9-E11 0.750000 508 ALDH1A2:boundary_CDS_coverage:after_E4 1.000000 1061 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH1A3 ENST00000329841.10 24 20 8 0 4 13 67 ALDH1A3:single_exon:E12 0.125000 75 ALDH1A3:exon_block:E2-E6 0.500000 567 ALDH1A3:boundary_CDS_coverage:after_E1 1.000000 1437 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH1B1 ENST00000377698.4 1 1 0 0 0 2 4 ALDH1B1:single_exon:E2 1.000000 2922 ALDH1B1:exon_block:E1-E2 1.000000 3028 ALDH1B1:boundary_CDS_coverage:after_E1 1.000000 1551 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH3A1 ENST00000225740.11 1 1 0 0 0 11 55 ALDH3A1:single_exon:E6 1.000000 118 ALDH3A1:exon_block:E6-E7 1.000000 260 ALDH3A1:boundary_CDS_coverage:after_E5 1.000000 670 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH3A2 ENST00000176643.11 178 153 52 0 25 10 49 ALDH3A2:single_exon:E4 0.157303 209 ALDH3A2:exon_block:E4-E8 0.584270 736 ALDH3A2:boundary_CDS_coverage:after_E1 0.893258 1302 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH4A1 ENST00000375341.8 25 18 11 0 7 15 79 ALDH4A1:single_exon:E5 0.200000 156 ALDH4A1:exon_block:E1-E5 0.520000 485 ALDH4A1:boundary_CDS_coverage:after_E1 0.920000 1627 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH5A1 ENST00000357578.8 146 128 29 0 18 10 49 ALDH5A1:single_exon:E1 0.191781 382 ALDH5A1:exon_block:E1-E5 0.657534 898 ALDH5A1:boundary_CDS_coverage:after_E1 0.815068 1251 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH6A1 ENST00000553458.6 7 7 1 0 0 12 61 ALDH6A1:single_exon:E10 0.428571 180 ALDH6A1:exon_block:E6-E10 0.714286 977 ALDH6A1:boundary_CDS_coverage:after_E2 1.000000 1494 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDH7A1 ENST00000409134.8 184 130 86 0 54 18 97 ALDH7A1:single_exon:E6 0.125000 133 ALDH7A1:exon_block:E2-E6 0.320652 458 ALDH7A1:boundary_CDS_coverage:after_E1 0.951087 1425 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDOA ENST00000642816.3 11 8 5 0 3 10 49 ALDOA:single_exon:E7 0.181818 84 ALDOA:exon_block:E6-E10 0.818182 918 ALDOA:boundary_CDS_coverage:after_E3 1.000000 980 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALDOB ENST00000647789.2 138 104 46 2 32 9 43 ALDOB:single_exon:E3 0.210145 212 ALDOB:exon_block:E3-E7 0.695652 687 ALDOB:boundary_CDS_coverage:after_E1 0.992754 1092 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG1 ENST00000262374.10 120 88 56 0 32 13 67 ALG1:single_exon:E11 0.158333 115 ALG1:exon_block:E7-E11 0.416667 447 ALG1:boundary_CDS_coverage:after_E1 0.900000 1184 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG10 ENST00000266483.7 2 1 2 0 1 3 8 ALG10:single_exon:E2 1.000000 198 ALG10:exon_block:E1-E2 1.000000 473 ALG10:boundary_CDS_coverage:after_E1 1.000000 1248 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG11 ENST00000521508.2 18 17 1 0 1 4 13 ALG11:single_exon:E3 0.500000 932 ALG11:exon_block:E1-E4 1.000000 6510 ALG11:boundary_CDS_coverage:after_E1 0.833333 1432 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG12 ENST00000330817.11 44 34 16 0 9 10 49 ALG12:single_exon:E6 0.159091 104 ALG12:exon_block:E4-E8 0.659091 867 ALG12:boundary_CDS_coverage:after_E1 1.000000 1464 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG13 ENST00000394780.8 11 11 1 0 0 27 151 ALG13:single_exon:E3 0.272727 139 ALG13:exon_block:E1-E4 0.727273 799 ALG13:boundary_CDS_coverage:after_E1 0.909091 3330 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG14 ENST00000370205.6 1 1 0 0 0 4 13 ALG14:single_exon:E2 1.000000 152 ALG14:exon_block:E2-E3 1.000000 284 ALG14:boundary_CDS_coverage:after_E1 1.000000 512 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG2 ENST00000476832.2 11 11 0 0 0 2 4 ALG2:single_exon:E1 0.545455 396 ALG2:exon_block:E1-E2 1.000000 2808 ALG2:boundary_CDS_coverage:after_E1 0.454545 900 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG3 ENST00000397676.8 37 31 9 0 6 9 43 ALG3:single_exon:E1 0.189189 218 ALG3:exon_block:E1-E5 0.675676 748 ALG3:boundary_CDS_coverage:after_E1 0.837838 1118 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG5 ENST00000239891.4 8 7 4 0 1 10 49 ALG5:single_exon:E8 0.625000 152 ALG5:exon_block:E7-E8 0.625000 212 ALG5:boundary_CDS_coverage:after_E1 1.000000 906 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG6 ENST00000263440.6 149 112 64 0 37 15 79 ALG6:single_exon:E8 0.167785 186 ALG6:exon_block:E4-E8 0.449664 513 ALG6:boundary_CDS_coverage:after_E1 1.000000 1521 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG8 ENST00000299626.10 63 46 23 0 17 13 67 ALG8:single_exon:E2 0.158730 79 ALG8:exon_block:E7-E11 0.523810 603 ALG8:boundary_CDS_coverage:after_E1 1.000000 1483 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALG9 ENST00000616540.5 36 29 12 0 7 15 79 ALG9:single_exon:E7 0.138889 88 ALG9:exon_block:E5-E9 0.416667 542 ALG9:boundary_CDS_coverage:after_E1 0.916667 1723 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALK ENST00000389048.8 19 19 11 0 0 29 163 ALK:single_exon:E23 0.473684 130 ALK:exon_block:E21-E25 0.894737 477 ALK:boundary_CDS_coverage:after_E20 0.947368 1501 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALKBH8 ENST00000428149.7 8 7 2 0 1 12 61 ALKBH8:single_exon:E12 0.375000 2489 ALKBH8:exon_block:E8-E12 1.000000 3155 ALKBH8:boundary_CDS_coverage:after_E8 1.000000 1114 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALMS1 ENST00000613296.6 999 936 96 1 62 23 127 ALMS1:single_exon:E8 0.451451 6108 ALMS1:exon_block:E8-E12 0.617618 8475 ALMS1:boundary_CDS_coverage:after_E1 0.962963 12180 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALOX12B ENST00000647874.1 150 130 30 0 20 15 79 ALOX12B:single_exon:E2 0.146667 205 ALOX12B:exon_block:E11-E15 0.380000 879 ALOX12B:boundary_CDS_coverage:after_E1 0.940000 1956 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALOXE3 ENST00000448843.7 66 52 17 1 12 16 85 ALOXE3:single_exon:E10 0.181818 204 ALOXE3:exon_block:E9-E13 0.409091 727 ALOXE3:boundary_CDS_coverage:after_E1 1.000000 2133 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALPI ENST00000295463.4 1 1 0 0 0 11 55 ALPI:single_exon:E11 1.000000 1894 ALPI:exon_block:E10-E11 1.000000 2011 ALPI:boundary_CDS_coverage:after_E10 1.000000 284 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALPK1 ENST00000650871.1 3 3 1 0 0 16 85 ALPK1:single_exon:E9 0.666667 96 ALPK1:exon_block:E9-E10 1.000000 201 ALPK1:boundary_CDS_coverage:after_E8 1.000000 3033 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALPK3 ENST00000258888.6 267 233 41 1 32 14 73 ALPK3:single_exon:E6 0.389513 2164 ALPK3:exon_block:E3-E7 0.782772 3783 ALPK3:boundary_CDS_coverage:after_E1 0.958801 4972 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALPL ENST00000374840.8 532 487 107 1 44 12 61 ALPL:single_exon:E10 0.135338 192 ALPL:exon_block:E8-E12 0.496241 1545 ALPL:boundary_CDS_coverage:after_E1 1.000000 1572 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALS2 ENST00000264276.11 119 88 44 0 31 34 193 ALS2:single_exon:E4 0.176471 938 ALS2:exon_block:E3-E7 0.352941 1717 ALS2:boundary_CDS_coverage:after_E1 1.000000 4971 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALX1 ENST00000316824.4 3 1 2 0 2 4 13 ALX1:single_exon:E1 0.333333 268 ALX1:exon_block:E1-E4 1.000000 1332 ALX1:boundary_CDS_coverage:after_E2 0.666667 447 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALX3 ENST00000647563.2 10 9 3 0 1 4 13 ALX3:single_exon:E2 0.700000 317 ALX3:exon_block:E2-E4 1.000000 1618 ALX3:boundary_CDS_coverage:after_E1 1.000000 752 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ALX4 ENST00000652299.1 21 21 0 0 0 4 13 ALX4:single_exon:E2 0.380952 311 ALX4:exon_block:E1-E4 1.000000 5727 ALX4:boundary_CDS_coverage:after_E1 0.619048 767 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMACR ENST00000335606.11 4 3 1 0 1 5 19 AMACR:single_exon:E2 0.250000 144 AMACR:exon_block:E1-E5 1.000000 4108 AMACR:boundary_CDS_coverage:after_E1 0.750000 899 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMBN ENST00000322937.10 5 2 4 0 3 13 67 AMBN:single_exon:E7 0.400000 39 AMBN:exon_block:E6-E7 0.600000 276 AMBN:boundary_CDS_coverage:after_E1 1.000000 1326 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMD1 ENST00000368885.8 5 0 0 0 0 9 43 AMD1:single_exon:E5 0.000000 43 AMD1:exon_block:E4-E5 0.000000 146 AMD1:boundary_CDS_coverage:after_E8 0.000000 138 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMDHD2 ENST00000293971.11 1 0 0 0 0 11 55 AMDHD2:single_exon:E4 0.000000 55 AMDHD2:exon_block:E9-E10 0.000000 171 AMDHD2:boundary_CDS_coverage:after_E10 0.000000 86 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMELX ENST00000380714.7 19 17 5 0 2 6 25 AMELX:single_exon:E5 0.368421 426 AMELX:exon_block:E2-E5 0.947368 582 AMELX:boundary_CDS_coverage:after_E1 1.000000 573 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMER1 ENST00000374869.8 45 43 0 0 2 2 4 AMER1:single_exon:E2 0.955556 8268 AMER1:exon_block:E1-E2 0.955556 8407 AMER1:boundary_CDS_coverage:after_E1 1.000000 3405 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMER3 ENST00000321420.5 1 1 0 0 0 2 4 AMER3:single_exon:E2 1.000000 6081 AMER3:exon_block:E1-E2 1.000000 6216 AMER3:boundary_CDS_coverage:after_E1 1.000000 2583 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMFR ENST00000290649.10 7 5 3 0 2 14 73 AMFR:single_exon:E1 0.285714 473 AMFR:exon_block:E1-E5 0.571429 925 AMFR:boundary_CDS_coverage:after_E2 0.714286 1581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMH ENST00000221496.5 30 27 3 1 2 5 19 AMH:single_exon:E5 0.466667 975 AMH:exon_block:E1-E5 1.000000 1809 AMH:boundary_CDS_coverage:after_E1 0.766667 1268 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMHR2 ENST00000257863.9 40 35 10 0 5 11 55 AMHR2:single_exon:E2 0.225000 183 AMHR2:exon_block:E1-E5 0.525000 701 AMHR2:boundary_CDS_coverage:after_E1 0.950000 1670 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMMECR1 ENST00000262844.10 14 11 3 1 2 6 25 AMMECR1:single_exon:E1 0.357143 487 AMMECR1:exon_block:E1-E5 0.928571 901 AMMECR1:boundary_CDS_coverage:after_E1 0.642857 526 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMN ENST00000299155.10 75 52 32 0 23 12 61 AMN:single_exon:E7 0.146667 109 AMN:exon_block:E5-E9 0.453333 711 AMN:boundary_CDS_coverage:after_E1 0.960000 1316 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMOT ENST00000371959.9 1 1 1 0 0 14 73 AMOT:single_exon:E9 1.000000 150 AMOT:exon_block:E8-E9 1.000000 296 AMOT:boundary_CDS_coverage:after_E9 1.000000 1326 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMOTL1 ENST00000433060.3 5 5 0 0 0 13 67 AMOTL1:single_exon:E3 0.800000 922 AMOTL1:exon_block:E3-E7 1.000000 1595 AMOTL1:boundary_CDS_coverage:after_E2 1.000000 2669 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMPD1 ENST00000520113.7 2 1 1 0 1 16 85 AMPD1:single_exon:E12 0.500000 164 AMPD1:exon_block:E12-E16 1.000000 745 AMPD1:boundary_CDS_coverage:after_E12 1.000000 562 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMPD2 ENST00000528667.7 49 37 15 3 9 19 103 AMPD2:single_exon:E4 0.163265 131 AMPD2:exon_block:E2-E6 0.367347 793 AMPD2:boundary_CDS_coverage:after_E1 1.000000 2475 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMPD3 ENST00000396553.7 3 3 1 0 0 15 79 AMPD3:single_exon:E12 0.333333 121 AMPD3:exon_block:E11-E12 0.666667 285 AMPD3:boundary_CDS_coverage:after_E4 1.000000 1712 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMT ENST00000273588.9 146 122 43 0 23 9 43 AMT:single_exon:E2 0.178082 168 AMT:exon_block:E5-E9 0.547945 1503 AMT:boundary_CDS_coverage:after_E1 0.890411 1119 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AMTN ENST00000339336.9 1 0 0 0 1 9 43 AMTN:single_exon:E7 0.000000 27 AMTN:exon_block:E6-E7 0.000000 63 AMTN:boundary_CDS_coverage:after_E2 1.000000 573 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANAPC1 ENST00000341068.8 3 1 1 0 2 48 277 ANAPC1:single_exon:E35 0.333333 77 ANAPC1:exon_block:E34-E35 0.333333 152 ANAPC1:boundary_CDS_coverage:after_E14 1.000000 4182 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANAPC15 ENST00000227618.9 8 0 0 0 0 6 25 ANAPC15:single_exon:E1 0.000000 46 ANAPC15:exon_block:E1-E2 0.000000 131 ANAPC15:boundary_CDS_coverage:after_E5 1.000000 45 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANAPC7 ENST00000455511.9 1 0 0 0 1 11 55 ANAPC7:single_exon:E4 0.000000 112 ANAPC7:exon_block:E3-E4 0.000000 232 ANAPC7:boundary_CDS_coverage:after_E6 1.000000 878 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANG ENST00000397990.5 7 7 0 0 0 2 4 ANG:single_exon:E2 1.000000 637 ANG:exon_block:E1-E2 1.000000 748 ANG:boundary_CDS_coverage:after_E1 1.000000 441 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANGPT2 ENST00000629816.3 4 2 0 2 0 9 43 ANGPT2:single_exon:E9 0.500000 3630 ANGPT2:exon_block:E5-E9 1.000000 4158 ANGPT2:boundary_CDS_coverage:after_E4 1.000000 686 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANGPTL3 ENST00000371129.4 14 11 3 0 3 7 31 ANGPTL3:single_exon:E1 0.428571 542 ANGPTL3:exon_block:E1-E5 0.714286 978 ANGPTL3:boundary_CDS_coverage:after_E1 0.571429 885 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANK1 ENST00000289734.13 497 404 158 1 92 43 246 ANK1:single_exon:E38 0.090543 559 ANK1:exon_block:E35-E39 0.219316 1211 ANK1:boundary_CDS_coverage:after_E1 0.991952 5613 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANK2 ENST00000357077.9 90 79 17 0 11 46 265 ANK2:single_exon:E38 0.466667 6255 ANK2:exon_block:E34-E38 0.544444 6559 ANK2:boundary_CDS_coverage:after_E1 0.988889 11787 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANK3 ENST00000280772.7 29 26 6 0 3 44 252 ANK3:single_exon:E37 0.344828 7812 ANK3:exon_block:E36-E40 0.413793 8245 ANK3:boundary_CDS_coverage:after_E2 0.965517 12915 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKH ENST00000284268.8 14 11 6 1 2 12 61 ANKH:single_exon:E10 0.285714 124 ANKH:exon_block:E8-E12 0.642857 6961 ANKH:boundary_CDS_coverage:after_E1 0.785714 1380 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKLE2 ENST00000357997.10 8 6 1 0 2 13 67 ANKLE2:single_exon:E10 0.375000 191 ANKLE2:exon_block:E10-E12 0.500000 915 ANKLE2:boundary_CDS_coverage:after_E1 1.000000 2633 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKRD11 ENST00000301030.10 652 621 42 0 31 13 67 ANKRD11:single_exon:E9 0.852761 6578 ANKRD11:exon_block:E8-E12 0.934049 7062 ANKRD11:boundary_CDS_coverage:after_E1 1.000000 7989 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKRD17 ENST00000358602.9 46 44 4 0 2 34 193 ANKRD17:single_exon:E29 0.195652 1634 ANKRD17:exon_block:E29-E32 0.304348 2260 ANKRD17:boundary_CDS_coverage:after_E3 0.978261 7105 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKRD24 ENST00000318934.9 1 1 0 0 0 22 121 ANKRD24:single_exon:E18 1.000000 1614 ANKRD24:exon_block:E17-E18 1.000000 1733 ANKRD24:boundary_CDS_coverage:after_E17 1.000000 2049 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKRD26 ENST00000376087.5 13 2 0 11 0 34 193 ANKRD26:single_exon:E1 0.846154 410 ANKRD26:exon_block:E1-E2 0.846154 525 ANKRD26:boundary_CDS_coverage:after_E20 0.153846 2969 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKRD31 ENST00000506364.6 3 2 1 0 1 26 145 ANKRD31:single_exon:E11 0.333333 143 ANKRD31:exon_block:E7-E11 1.000000 1260 ANKRD31:boundary_CDS_coverage:after_E6 1.000000 5343 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKRD36 ENST00000420699.9 2 1 2 0 1 76 444 ANKRD36:single_exon:E40 0.500000 73 ANKRD36:exon_block:E40-E42 1.000000 175 ANKRD36:boundary_CDS_coverage:after_E39 1.000000 3267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKRD37 ENST00000335174.6 2 0 0 0 0 5 18 ANKRD37:single_exon:E3 0.000000 92 ANKRD37:exon_block:E2-E3 0.000000 245 ANKRD37:boundary_CDS_coverage:after_E3 1.000000 202 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKRD44 ENST00000282272.15 1 0 0 0 1 28 157 ANKRD44:single_exon:E12 0.000000 64 ANKRD44:exon_block:E12-E13 0.000000 133 ANKRD44:boundary_CDS_coverage:after_E13 1.000000 1663 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKS1B ENST00000683438.2 1 0 1 0 1 27 151 ANKS1B:single_exon:E24 1.000000 87 ANKS1B:exon_block:E23-E24 1.000000 99 ANKS1B:boundary_CDS_coverage:after_E24 1.000000 414 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKS3 ENST00000304283.9 1 1 0 0 0 18 96 ANKS3:single_exon:E17 1.000000 88 ANKS3:exon_block:E16-E17 1.000000 172 ANKS3:boundary_CDS_coverage:after_E16 1.000000 74 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANKS6 ENST00000353234.5 35 30 11 0 5 15 79 ANKS6:single_exon:E2 0.228571 503 ANKS6:exon_block:E1-E4 0.485714 1176 ANKS6:boundary_CDS_coverage:after_E1 0.885714 2254 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANLN ENST00000265748.7 2 2 1 0 0 24 133 ANLN:single_exon:E7 0.500000 108 ANLN:exon_block:E7-E10 1.000000 582 ANLN:boundary_CDS_coverage:after_E6 1.000000 2085 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANO1 ENST00000355303.10 3 3 0 0 0 26 145 ANO1:single_exon:E12 0.333333 83 ANO1:exon_block:E20-E22 0.666667 400 ANO1:boundary_CDS_coverage:after_E11 1.000000 1700 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANO10 ENST00000292246.8 78 62 20 0 13 13 67 ANO10:single_exon:E6 0.243590 570 ANO10:exon_block:E2-E6 0.615385 1173 ANO10:boundary_CDS_coverage:after_E1 0.961538 1980 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANO3 ENST00000256737.8 12 12 3 0 0 27 151 ANO3:single_exon:E19 0.333333 112 ANO3:exon_block:E15-E19 0.750000 538 ANO3:boundary_CDS_coverage:after_E8 1.000000 2074 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANO4 ENST00000392977.8 7 7 0 0 0 28 156 ANO4:single_exon:E17 0.571429 165 ANO4:exon_block:E17-E19 0.714286 314 ANO4:boundary_CDS_coverage:after_E4 1.000000 2568 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANO5 ENST00000324559.9 183 144 64 0 39 22 121 ANO5:single_exon:E16 0.092896 170 ANO5:exon_block:E15-E19 0.333333 828 ANO5:boundary_CDS_coverage:after_E1 0.994536 2699 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANO6 ENST00000320560.13 36 26 13 0 10 20 109 ANO6:single_exon:E11 0.194444 143 ANO6:exon_block:E13-E17 0.416667 831 ANO6:boundary_CDS_coverage:after_E1 1.000000 2660 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANOS1 ENST00000262648.8 95 80 25 1 14 14 73 ANOS1:single_exon:E1 0.178947 308 ANOS1:exon_block:E3-E7 0.442105 807 ANOS1:boundary_CDS_coverage:after_E1 0.821053 1833 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANTXR1 ENST00000303714.9 10 9 5 0 1 18 97 ANTXR1:single_exon:E5 0.100000 34 ANTXR1:exon_block:E7-E11 0.400000 380 ANTXR1:boundary_CDS_coverage:after_E2 1.000000 1468 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANTXR2 ENST00000403729.7 37 28 11 0 9 17 91 ANTXR2:single_exon:E14 0.189189 93 ANTXR2:exon_block:E11-E15 0.540541 481 ANTXR2:boundary_CDS_coverage:after_E1 0.918919 1312 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANXA11 ENST00000422982.8 6 5 1 0 1 16 85 ANXA11:single_exon:E4 0.833333 116 ANXA11:exon_block:E4-E7 1.000000 689 ANXA11:boundary_CDS_coverage:after_E3 1.000000 1460 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ANXA7 ENST00000372921.10 1 0 1 0 1 13 67 ANXA7:single_exon:E10 1.000000 171 ANXA7:exon_block:E10-E11 1.000000 247 ANXA7:boundary_CDS_coverage:after_E10 1.000000 309 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AOPEP ENST00000375315.8 191 8 1 0 1 17 90 AOPEP:single_exon:E2 0.020942 932 AOPEP:exon_block:E2-E6 0.036649 1689 AOPEP:boundary_CDS_coverage:after_E1 1.000000 2457 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP1B1 ENST00000357586.7 12 11 2 0 1 23 127 AP1B1:single_exon:E18 0.166667 130 AP1B1:exon_block:E2-E6 0.500000 743 AP1B1:boundary_CDS_coverage:after_E1 1.000000 2847 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP1G1 ENST00000299980.9 24 19 8 1 4 23 127 AP1G1:single_exon:E2 0.250000 204 AP1G1:exon_block:E2-E6 0.416667 645 AP1G1:boundary_CDS_coverage:after_E1 1.000000 2466 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP1G2 ENST00000397120.8 1 1 1 0 0 22 121 AP1G2:single_exon:E4 1.000000 142 AP1G2:exon_block:E4-E5 1.000000 239 AP1G2:boundary_CDS_coverage:after_E3 1.000000 2026 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP1S1 ENST00000337619.11 9 6 4 0 3 5 19 AP1S1:single_exon:E3 0.666667 109 AP1S1:exon_block:E2-E4 1.000000 426 AP1S1:boundary_CDS_coverage:after_E1 1.000000 471 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP1S2 ENST00000672987.1 25 16 12 0 9 6 25 AP1S2:single_exon:E2 0.520000 179 AP1S2:exon_block:E1-E4 1.000000 552 AP1S2:boundary_CDS_coverage:after_E1 1.000000 480 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP2M1 ENST00000292807.9 1 1 0 0 0 12 61 AP2M1:single_exon:E6 1.000000 136 AP2M1:exon_block:E5-E6 1.000000 142 AP2M1:boundary_CDS_coverage:after_E5 1.000000 876 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP2S1 ENST00000263270.11 3 3 0 0 0 5 19 AP2S1:single_exon:E2 1.000000 150 AP2S1:exon_block:E1-E2 1.000000 233 AP2S1:boundary_CDS_coverage:after_E1 1.000000 423 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP3B1 ENST00000255194.11 73 55 27 0 18 27 151 AP3B1:single_exon:E23 0.123288 232 AP3B1:exon_block:E13-E17 0.328767 738 AP3B1:boundary_CDS_coverage:after_E1 1.000000 3154 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP3B2 ENST00000535359.6 49 42 10 0 7 27 151 AP3B2:single_exon:E8 0.163265 284 AP3B2:exon_block:E5-E9 0.346939 750 AP3B2:boundary_CDS_coverage:after_E1 0.938776 3190 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP3D1 ENST00000643116.3 1 1 0 0 0 32 181 AP3D1:single_exon:E32 1.000000 1281 AP3D1:exon_block:E31-E32 1.000000 1361 AP3D1:boundary_CDS_coverage:after_E31 1.000000 93 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP4B1 ENST00000369569.6 62 56 10 0 6 10 49 AP4B1:single_exon:E5 0.241935 497 AP4B1:exon_block:E2-E6 0.661290 1085 AP4B1:boundary_CDS_coverage:after_E1 0.983871 2104 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP4E1 ENST00000261842.10 32 25 10 0 7 21 115 AP4E1:single_exon:E8 0.125000 74 AP4E1:exon_block:E17-E21 0.343750 4557 AP4E1:boundary_CDS_coverage:after_E1 1.000000 3261 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP4M1 ENST00000359593.9 62 52 25 0 10 15 79 AP4M1:single_exon:E11 0.129032 95 AP4M1:exon_block:E11-E15 0.403226 2685 AP4M1:boundary_CDS_coverage:after_E1 0.919355 1301 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP4S1 ENST00000542754.7 24 15 14 0 9 6 25 AP4S1:single_exon:E2 0.416667 209 AP4S1:exon_block:E2-E6 1.000000 3921 AP4S1:boundary_CDS_coverage:after_E1 1.000000 432 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP5B1 ENST00000532090.3 4 4 0 0 0 2 4 AP5B1:single_exon:E2 1.000000 6445 AP5B1:exon_block:E1-E2 1.000000 6980 AP5B1:boundary_CDS_coverage:after_E1 1.000000 2484 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP5M1 ENST00000261558.8 2 2 1 0 0 8 37 AP5M1:single_exon:E5 0.500000 86 AP5M1:exon_block:E2-E5 1.000000 1100 AP5M1:boundary_CDS_coverage:after_E1 1.000000 1396 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AP5Z1 ENST00000649063.2 71 57 22 0 14 17 91 AP5Z1:single_exon:E7 0.126761 141 AP5Z1:exon_block:E7-E11 0.394366 664 AP5Z1:boundary_CDS_coverage:after_E1 1.000000 2380 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APBB1 ENST00000609360.6 2 0 0 0 0 15 79 APBB1:single_exon:E9 0.000000 6 APBB1:exon_block:E9-E10 0.000000 121 APBB1:boundary_CDS_coverage:after_E14 1.000000 165 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APC ENST00000257430.9 2556 2369 294 4 172 16 85 APC:single_exon:E16 0.638498 8687 APC:exon_block:E12-E16 0.755086 9237 APC:boundary_CDS_coverage:after_E1 0.995696 8529 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APC2 ENST00000590469.6 24 23 3 0 1 15 79 APC2:single_exon:E15 0.416667 8090 APC2:exon_block:E11-E15 0.583333 8640 APC2:boundary_CDS_coverage:after_E3 1.000000 6677 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APCDD1 ENST00000355285.10 1 1 0 0 0 5 19 APCDD1:single_exon:E1 1.000000 405 APCDD1:exon_block:E1-E2 1.000000 589 APCDD1:boundary_CDS_coverage:after_E4 0.000000 446 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOA1 ENST00000236850.5 33 29 3 0 3 4 13 APOA1:single_exon:E4 0.636364 661 APOA1:exon_block:E2-E4 0.969697 881 APOA1:boundary_CDS_coverage:after_E2 1.000000 758 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOA2 ENST00000367990.7 3 0 1 2 1 4 13 APOA2:single_exon:E4 0.666667 231 APOA2:exon_block:E3-E4 1.000000 364 APOA2:boundary_CDS_coverage:after_E3 1.000000 115 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOA4 ENST00000357780.5 2 2 0 0 0 3 8 APOA4:single_exon:E2 0.500000 127 APOA4:exon_block:E2-E3 1.000000 1309 APOA4:boundary_CDS_coverage:after_E1 1.000000 1139 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOA5 ENST00000227665.9 14 14 2 0 0 3 8 APOA5:single_exon:E3 0.785714 1701 APOA5:exon_block:E1-E3 1.000000 1881 APOA5:boundary_CDS_coverage:after_E1 0.928571 1049 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOB ENST00000233242.5 248 214 44 0 34 29 163 APOB:single_exon:E26 0.544355 7572 APOB:exon_block:E25-E29 0.669355 10151 APOB:boundary_CDS_coverage:after_E1 0.983871 13607 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOC2 ENST00000252490.7 18 16 2 0 2 4 13 APOC2:single_exon:E3 0.444444 160 APOC2:exon_block:E2-E4 1.000000 635 APOC2:boundary_CDS_coverage:after_E1 1.000000 303 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOC3 ENST00000227667.8 3 2 0 0 1 4 13 APOC3:single_exon:E4 0.666667 309 APOC3:exon_block:E3-E4 0.666667 433 APOC3:boundary_CDS_coverage:after_E1 1.000000 297 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOE ENST00000252486.9 20 19 1 0 1 4 13 APOE:single_exon:E4 0.850000 861 APOE:exon_block:E3-E4 1.000000 1054 APOE:boundary_CDS_coverage:after_E2 1.000000 908 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOH ENST00000205948.11 1 1 0 0 0 8 37 APOH:single_exon:E2 1.000000 177 APOH:exon_block:E2-E3 1.000000 274 APOH:boundary_CDS_coverage:after_E1 1.000000 971 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APOO ENST00000379226.9 1 1 0 0 0 9 42 APOO:single_exon:E5 1.000000 96 APOO:exon_block:E4-E5 1.000000 151 APOO:boundary_CDS_coverage:after_E4 1.000000 302 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APP ENST00000346798.8 27 27 3 0 0 18 97 APP:single_exon:E17 0.814815 147 APP:exon_block:E16-E17 1.000000 248 APP:boundary_CDS_coverage:after_E15 1.000000 347 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APPL1 ENST00000288266.8 2 2 1 0 0 22 121 APPL1:single_exon:E14 0.500000 95 APPL1:exon_block:E14-E17 1.000000 506 APPL1:boundary_CDS_coverage:after_E13 1.000000 975 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APRT ENST00000378364.8 77 62 20 3 12 5 19 APRT:single_exon:E3 0.298701 134 APRT:exon_block:E1-E5 0.948052 931 APRT:boundary_CDS_coverage:after_E1 0.896104 460 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true APTX ENST00000379817.7 40 34 8 0 6 8 37 APTX:single_exon:E6 0.475000 227 APTX:exon_block:E4-E8 0.950000 1731 APTX:boundary_CDS_coverage:after_E1 1.000000 1026 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AQP1 ENST00000311813.11 3 3 0 0 0 4 13 AQP1:single_exon:E3 0.666667 81 AQP1:exon_block:E1-E3 1.000000 687 AQP1:boundary_CDS_coverage:after_E2 0.666667 258 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AQP2 ENST00000199280.4 75 66 11 0 9 4 13 AQP2:single_exon:E1 0.333333 454 AQP2:exon_block:E1-E4 1.000000 4180 AQP2:boundary_CDS_coverage:after_E1 0.693333 453 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AQP4 ENST00000383168.9 2 2 0 0 0 5 19 AQP4:single_exon:E4 0.500000 81 AQP4:exon_block:E2-E4 1.000000 661 AQP4:boundary_CDS_coverage:after_E1 1.000000 937 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AQP5 ENST00000293599.7 5 5 3 0 0 4 13 AQP5:single_exon:E2 0.400000 165 AQP5:exon_block:E1-E3 1.000000 758 AQP5:boundary_CDS_coverage:after_E1 0.600000 432 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AR ENST00000374690.9 365 345 45 2 18 8 37 AR:single_exon:E1 0.309589 2742 AR:exon_block:E1-E5 0.717808 3444 AR:boundary_CDS_coverage:after_E1 0.695890 1144 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARCN1 ENST00000264028.5 29 28 3 0 1 10 49 ARCN1:single_exon:E4 0.206897 206 ARCN1:exon_block:E2-E6 0.689655 981 ARCN1:boundary_CDS_coverage:after_E1 1.000000 1530 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARF1 ENST00000272102.10 12 12 5 0 0 5 19 ARF1:single_exon:E3 0.333333 111 ARF1:exon_block:E2-E5 1.000000 1782 ARF1:boundary_CDS_coverage:after_E1 1.000000 543 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARF3 ENST00000256682.9 10 10 2 0 0 5 19 ARF3:single_exon:E4 0.400000 125 ARF3:exon_block:E2-E4 1.000000 477 ARF3:boundary_CDS_coverage:after_E1 1.000000 543 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARFGEF1 ENST00000262215.8 79 53 16 0 13 39 223 ARFGEF1:single_exon:E22 0.063291 151 ARFGEF1:exon_block:E18-E22 0.164557 763 ARFGEF1:boundary_CDS_coverage:after_E2 0.987342 5392 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARFGEF2 ENST00000371917.5 23 18 9 0 5 39 223 ARFGEF2:single_exon:E10 0.130435 235 ARFGEF2:exon_block:E9-E11 0.260870 466 ARFGEF2:boundary_CDS_coverage:after_E4 0.956522 4932 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARG1 ENST00000368087.8 138 110 49 0 28 8 37 ARG1:single_exon:E4 0.202899 160 ARG1:exon_block:E3-E7 0.644928 672 ARG1:boundary_CDS_coverage:after_E1 0.920290 909 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP11A ENST00000361627.8 1 1 0 0 0 12 61 ARHGAP11A:single_exon:E12 1.000000 3685 ARHGAP11A:exon_block:E11-E12 1.000000 3824 ARHGAP11A:boundary_CDS_coverage:after_E11 1.000000 1586 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP19 ENST00000358531.9 4 4 0 0 0 12 61 ARHGAP19:single_exon:E4 0.750000 210 ARHGAP19:exon_block:E2-E4 1.000000 557 ARHGAP19:boundary_CDS_coverage:after_E1 1.000000 1426 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP21 ENST00000396432.7 1 1 0 0 0 26 145 ARHGAP21:single_exon:E18 1.000000 156 ARHGAP21:exon_block:E18-E19 1.000000 235 ARHGAP21:boundary_CDS_coverage:after_E17 1.000000 2397 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP29 ENST00000260526.11 7 3 4 0 4 23 127 ARHGAP29:single_exon:E18 0.285714 189 ARHGAP29:exon_block:E17-E21 0.714286 1016 ARHGAP29:boundary_CDS_coverage:after_E7 1.000000 3086 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP31 ENST00000264245.9 4 4 0 0 0 12 61 ARHGAP31:single_exon:E12 0.750000 6859 ARHGAP31:exon_block:E11-E12 1.000000 7140 ARHGAP31:boundary_CDS_coverage:after_E10 1.000000 2687 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP32 ENST00000682385.1 2 2 0 0 0 23 127 ARHGAP32:single_exon:E16 0.500000 108 ARHGAP32:exon_block:E15-E16 0.500000 191 ARHGAP32:boundary_CDS_coverage:after_E6 1.000000 5772 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP35 ENST00000672722.1 17 17 0 0 0 7 31 ARHGAP35:single_exon:E2 0.823529 3869 ARHGAP35:exon_block:E2-E4 0.882353 4092 ARHGAP35:boundary_CDS_coverage:after_E1 1.000000 4497 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP4 ENST00000350060.10 1 0 0 0 0 22 121 ARHGAP4:single_exon:E11 0.000000 28 ARHGAP4:exon_block:E10-E11 0.000000 113 ARHGAP4:boundary_CDS_coverage:after_E21 1.000000 231 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP5 ENST00000345122.8 2 2 0 0 0 7 31 ARHGAP5:single_exon:E2 1.000000 3885 ARHGAP5:exon_block:E1-E2 1.000000 4017 ARHGAP5:boundary_CDS_coverage:after_E1 1.000000 4506 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGAP6 ENST00000337414.9 19 0 0 0 19 13 67 ARHGAP6:single_exon:E6 0.000000 56 ARHGAP6:exon_block:E6-E7 0.000000 207 ARHGAP6:boundary_CDS_coverage:after_E1 1.000000 2334 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGDIA ENST00000269321.12 4 3 1 1 0 6 25 ARHGDIA:single_exon:E6 0.750000 1355 ARHGDIA:exon_block:E5-E6 1.000000 1419 ARHGDIA:boundary_CDS_coverage:after_E4 1.000000 261 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGEF10L ENST00000361221.8 1 1 0 0 0 29 163 ARHGEF10L:single_exon:E29 1.000000 1022 ARHGEF10L:exon_block:E28-E29 1.000000 1145 ARHGEF10L:boundary_CDS_coverage:after_E28 1.000000 530 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGEF15 ENST00000361926.8 1 1 0 0 0 16 85 ARHGEF15:single_exon:E3 1.000000 333 ARHGEF15:exon_block:E3-E4 1.000000 388 ARHGEF15:boundary_CDS_coverage:after_E2 1.000000 1922 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGEF18 ENST00000668164.2 27 18 6 0 9 29 163 ARHGEF18:single_exon:E26 0.148148 471 ARHGEF18:exon_block:E22-E26 0.370370 845 ARHGEF18:boundary_CDS_coverage:after_E3 1.000000 3808 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGEF2 ENST00000361247.9 1 0 1 0 1 22 121 ARHGEF2:single_exon:E12 1.000000 77 ARHGEF2:exon_block:E12-E13 1.000000 247 ARHGEF2:boundary_CDS_coverage:after_E12 1.000000 1413 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGEF25 ENST00000286494.9 1 1 0 0 0 15 79 ARHGEF25:single_exon:E13 1.000000 181 ARHGEF25:exon_block:E12-E13 1.000000 382 ARHGEF25:boundary_CDS_coverage:after_E12 1.000000 501 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGEF26 ENST00000465093.6 1 0 1 0 1 15 79 ARHGEF26:single_exon:E2 1.000000 1134 ARHGEF26:exon_block:E2-E3 1.000000 1174 ARHGEF26:boundary_CDS_coverage:after_E2 1.000000 1530 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARHGEF9 ENST00000671741.2 51 42 17 0 9 10 49 ARHGEF9:single_exon:E8 0.215686 244 ARHGEF9:exon_block:E4-E8 0.686275 919 ARHGEF9:boundary_CDS_coverage:after_E1 0.980392 1539 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARID1A ENST00000324856.13 141 131 21 0 10 20 109 ARID1A:single_exon:E20 0.241135 3082 ARID1A:exon_block:E16-E20 0.411348 4340 ARID1A:boundary_CDS_coverage:after_E1 0.851064 5718 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARID1B ENST00000636930.2 566 523 85 0 43 20 109 ARID1B:single_exon:E20 0.252650 4613 ARID1B:exon_block:E16-E20 0.468198 5776 ARID1B:boundary_CDS_coverage:after_E1 0.872792 5325 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARID2 ENST00000334344.11 101 90 19 0 11 21 115 ARID2:single_exon:E15 0.455446 2861 ARID2:exon_block:E11-E15 0.613861 3443 ARID2:boundary_CDS_coverage:after_E1 1.000000 5413 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARID4A ENST00000355431.8 1 1 0 0 0 24 133 ARID4A:single_exon:E20 1.000000 1131 ARID4A:exon_block:E20-E21 1.000000 1236 ARID4A:boundary_CDS_coverage:after_E19 1.000000 1691 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARIH2 ENST00000356401.9 1 0 1 0 1 16 85 ARIH2:single_exon:E16 1.000000 3184 ARIH2:exon_block:E15-E16 1.000000 3268 ARIH2:boundary_CDS_coverage:after_E15 1.000000 69 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL13B ENST00000394222.8 40 34 13 0 6 10 49 ARL13B:single_exon:E7 0.275000 226 ARL13B:exon_block:E3-E7 0.850000 894 ARL13B:boundary_CDS_coverage:after_E1 0.975000 1225 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL14EP ENST00000282032.4 1 1 0 0 0 4 13 ARL14EP:single_exon:E4 1.000000 1657 ARL14EP:exon_block:E3-E4 1.000000 1785 ARL14EP:boundary_CDS_coverage:after_E3 1.000000 226 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL16 ENST00000622299.5 1 0 1 1 0 5 19 ARL16:single_exon:E1 1.000000 105 ARL16:exon_block:E1-E2 1.000000 164 ARL16:boundary_CDS_coverage:after_E4 0.000000 169 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL2 ENST00000246747.9 1 1 0 0 0 5 19 ARL2:single_exon:E1 1.000000 113 ARL2:exon_block:E1-E2 1.000000 224 ARL2:boundary_CDS_coverage:after_E4 0.000000 132 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL2BP ENST00000219204.8 16 8 11 0 8 6 25 ARL2BP:single_exon:E3 0.375000 107 ARL2BP:exon_block:E1-E5 0.937500 499 ARL2BP:boundary_CDS_coverage:after_E1 0.812500 451 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL3 ENST00000260746.6 2 2 0 0 0 6 25 ARL3:single_exon:E4 0.500000 51 ARL3:exon_block:E4-E5 1.000000 237 ARL3:boundary_CDS_coverage:after_E3 1.000000 282 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL6 ENST00000463745.6 50 36 22 0 14 8 37 ARL6:single_exon:E5 0.200000 95 ARL6:exon_block:E2-E6 0.820000 506 ARL6:boundary_CDS_coverage:after_E1 1.000000 558 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL6IP1 ENST00000304414.12 7 5 1 0 2 6 25 ARL6IP1:single_exon:E2 0.285714 134 ARL6IP1:exon_block:E2-E6 0.857143 2159 ARL6IP1:boundary_CDS_coverage:after_E1 1.000000 573 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARL6IP6 ENST00000326446.10 1 1 0 0 0 4 13 ARL6IP6:single_exon:E1 1.000000 405 ARL6IP6:exon_block:E1-E2 1.000000 459 ARL6IP6:boundary_CDS_coverage:after_E3 0.000000 91 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARMC12 ENST00000373866.4 3 3 1 0 0 6 25 ARMC12:single_exon:E5 1.000000 72 ARMC12:exon_block:E4-E5 1.000000 246 ARMC12:boundary_CDS_coverage:after_E4 1.000000 402 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARMC2 ENST00000392644.9 7 6 2 0 1 18 97 ARMC2:single_exon:E16 0.285714 133 ARMC2:exon_block:E16-E17 0.428571 294 ARMC2:boundary_CDS_coverage:after_E2 1.000000 2383 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARMC5 ENST00000268314.9 30 29 2 0 1 6 25 ARMC5:single_exon:E3 0.266667 787 ARMC5:exon_block:E2-E6 0.733333 2609 ARMC5:boundary_CDS_coverage:after_E1 0.766667 2330 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARMC9 ENST00000611582.5 48 27 31 0 21 25 139 ARMC9:single_exon:E15 0.166667 140 ARMC9:exon_block:E15-E19 0.416667 439 ARMC9:boundary_CDS_coverage:after_E2 1.000000 2403 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARMS2 ENST00000528446.1 1 0 0 0 0 2 4 ARMS2:single_exon:E1 0.000000 372 ARMS2:exon_block:E1-E2 0.000000 818 ARMS2:boundary_CDS_coverage:after_E1 1.000000 24 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARNT2 ENST00000303329.9 10 8 2 0 2 19 103 ARNT2:single_exon:E13 0.200000 73 ARNT2:exon_block:E5-E9 0.500000 546 ARNT2:boundary_CDS_coverage:after_E2 1.000000 2005 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARPC1B ENST00000646101.2 27 17 12 0 9 10 49 ARPC1B:single_exon:E4 0.259259 223 ARPC1B:exon_block:E4-E8 0.703704 820 ARPC1B:boundary_CDS_coverage:after_E1 0.962963 1116 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARPC5 ENST00000359856.11 2 2 0 0 0 4 13 ARPC5:single_exon:E1 1.000000 267 ARPC5:exon_block:E1-E2 1.000000 340 ARPC5:boundary_CDS_coverage:after_E3 0.000000 60 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARR3 ENST00000307959.9 10 8 4 0 2 17 91 ARR3:single_exon:E6 0.500000 200 ARR3:exon_block:E2-E6 0.600000 375 ARR3:boundary_CDS_coverage:after_E1 1.000000 1164 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARSA ENST00000216124.10 357 325 64 0 32 8 37 ARSA:single_exon:E2 0.207283 241 ARSA:exon_block:E1-E5 0.722689 1352 ARSA:boundary_CDS_coverage:after_E1 0.918768 1303 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARSB ENST00000264914.10 254 223 47 2 29 8 37 ARSB:single_exon:E1 0.267717 374 ARSB:exon_block:E1-E5 0.763780 1204 ARSB:boundary_CDS_coverage:after_E1 0.736220 1287 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARSG ENST00000621439.5 45 27 19 0 18 12 61 ARSG:single_exon:E8 0.155556 81 ARSG:exon_block:E7-E11 0.511111 599 ARSG:boundary_CDS_coverage:after_E1 1.000000 1575 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARSK ENST00000380009.9 3 3 1 0 0 8 37 ARSK:single_exon:E2 0.333333 130 ARSK:exon_block:E2-E4 0.666667 573 ARSK:boundary_CDS_coverage:after_E1 1.000000 1482 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARSL ENST00000381134.9 40 35 9 0 5 11 55 ARSL:single_exon:E3 0.200000 162 ARSL:exon_block:E3-E7 0.650000 968 ARSL:boundary_CDS_coverage:after_E2 1.000000 1744 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARV1 ENST00000310256.7 16 12 4 0 4 6 24 ARV1:single_exon:E4 0.375000 225 ARV1:exon_block:E1-E4 1.000000 685 ARV1:boundary_CDS_coverage:after_E1 0.812500 639 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ARX ENST00000379044.5 141 136 14 1 4 5 19 ARX:single_exon:E2 0.411348 877 ARX:exon_block:E1-E5 0.985816 2893 ARX:boundary_CDS_coverage:after_E1 0.886525 1490 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASAH1 ENST00000637790.2 125 92 56 0 33 14 73 ASAH1:single_exon:E6 0.144000 75 ASAH1:exon_block:E2-E6 0.400000 379 ASAH1:boundary_CDS_coverage:after_E1 0.928000 1107 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASCC1 ENST00000672957.1 28 20 6 0 8 10 49 ASCC1:single_exon:E5 0.321429 179 ASCC1:exon_block:E4-E8 0.785714 659 ASCC1:boundary_CDS_coverage:after_E1 1.000000 1071 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASCC3 ENST00000369162.7 13 10 5 0 3 42 241 ASCC3:single_exon:E32 0.153846 121 ASCC3:exon_block:E28-E32 0.384615 669 ASCC3:boundary_CDS_coverage:after_E4 1.000000 5805 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASCL5 ENST00000449188.3 1 1 0 0 0 2 4 ASCL5:single_exon:E2 1.000000 1935 ASCL5:exon_block:E1-E2 1.000000 2036 ASCL5:boundary_CDS_coverage:after_E1 1.000000 618 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASH1L ENST00000392403.8 99 96 9 0 3 28 157 ASH1L:single_exon:E3 0.545455 4564 ASH1L:exon_block:E3-E7 0.646465 5683 ASH1L:boundary_CDS_coverage:after_E1 1.000000 8892 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASH2L ENST00000343823.11 1 1 1 0 0 16 85 ASH2L:single_exon:E15 1.000000 60 ASH2L:exon_block:E14-E15 1.000000 159 ASH2L:boundary_CDS_coverage:after_E14 1.000000 165 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASIC2 ENST00000225823.7 2 0 0 0 0 10 49 ASIC2:single_exon:E5 0.000000 57 ASIC2:exon_block:E8-E9 0.000000 149 ASIC2:boundary_CDS_coverage:after_E9 0.000000 99 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASIC5 ENST00000537611.3 1 1 0 0 0 10 49 ASIC5:single_exon:E4 1.000000 126 ASIC5:exon_block:E4-E5 1.000000 276 ASIC5:boundary_CDS_coverage:after_E3 1.000000 930 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASL ENST00000304874.14 236 187 100 0 49 17 91 ASL:single_exon:E3 0.105932 195 ASL:exon_block:E3-E7 0.398305 512 ASL:boundary_CDS_coverage:after_E1 1.000000 1392 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASNS ENST00000394308.8 167 137 49 0 30 13 67 ASNS:single_exon:E3 0.155689 272 ASNS:exon_block:E3-E7 0.497006 926 ASNS:boundary_CDS_coverage:after_E1 1.000000 1683 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASPA ENST00000263080.3 182 154 45 1 27 6 25 ASPA:single_exon:E1 0.247253 399 ASPA:exon_block:E1-E5 0.829670 907 ASPA:boundary_CDS_coverage:after_E1 0.774725 703 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASPH ENST00000379454.9 24 19 7 0 5 25 139 ASPH:single_exon:E22 0.166667 136 ASPH:exon_block:E21-E25 0.583333 3454 ASPH:boundary_CDS_coverage:after_E1 1.000000 2171 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASPM ENST00000367409.9 348 324 43 0 24 28 157 ASPM:single_exon:E18 0.448276 4755 ASPM:exon_block:E17-E21 0.520115 5424 ASPM:boundary_CDS_coverage:after_E1 0.971264 10134 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASPRV1 ENST00000320256.6 3 3 0 0 0 1 1 ASPRV1:single_exon:E1 1.000000 1543 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASS1 ENST00000352480.10 226 172 95 0 54 15 79 ASS1:single_exon:E12 0.132743 132 ASS1:exon_block:E10-E14 0.464602 505 ASS1:boundary_CDS_coverage:after_E1 1.000000 1236 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASTL ENST00000342380.3 1 0 1 0 1 9 43 ASTL:single_exon:E6 1.000000 182 ASTL:exon_block:E6-E7 1.000000 264 ASTL:boundary_CDS_coverage:after_E5 1.000000 838 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASTN1 ENST00000361833.7 2 2 0 0 0 23 127 ASTN1:single_exon:E20 0.500000 136 ASTN1:exon_block:E20-E21 0.500000 237 ASTN1:boundary_CDS_coverage:after_E12 1.000000 1828 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASTN2 ENST00000313400.9 71 0 0 0 71 23 127 ASTN2:single_exon:E9 0.000000 75 ASTN2:exon_block:E8-E9 0.000000 160 ASTN2:boundary_CDS_coverage:after_E16 1.000000 1211 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASXL1 ENST00000375687.10 143 137 9 0 6 13 67 ASXL1:single_exon:E13 0.734266 4888 ASXL1:exon_block:E11-E13 0.923077 5628 ASXL1:boundary_CDS_coverage:after_E1 1.000000 4566 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASXL2 ENST00000435504.9 28 27 1 0 1 13 67 ASXL2:single_exon:E13 0.607143 10724 ASXL2:exon_block:E12-E13 1.000000 11442 ASXL2:boundary_CDS_coverage:after_E11 1.000000 3163 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ASXL3 ENST00000269197.12 234 223 12 0 11 12 61 ASXL3:single_exon:E11 0.465812 1957 ASXL3:exon_block:E9-E12 0.948718 10468 ASXL3:boundary_CDS_coverage:after_E2 0.991453 6607 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATAD1 ENST00000680024.1 3 2 2 0 1 10 49 ATAD1:single_exon:E8 0.333333 51 ATAD1:exon_block:E6-E10 1.000000 3678 ATAD1:boundary_CDS_coverage:after_E6 1.000000 393 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATAD3A ENST00000378756.8 24 18 10 0 6 16 85 ATAD3A:single_exon:E2 0.166667 77 ATAD3A:exon_block:E2-E6 0.416667 475 ATAD3A:boundary_CDS_coverage:after_E1 0.958333 1553 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATCAY ENST00000450849.7 4 3 1 0 1 13 67 ATCAY:single_exon:E9 0.500000 99 ATCAY:exon_block:E6-E9 1.000000 421 ATCAY:boundary_CDS_coverage:after_E5 1.000000 569 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATF6 ENST00000367942.4 46 30 19 0 16 16 85 ATF6:single_exon:E9 0.130435 92 ATF6:exon_block:E8-E12 0.434783 624 ATF6:boundary_CDS_coverage:after_E1 0.934783 1928 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATG12 ENST00000509910.2 4 3 1 0 1 4 13 ATG12:single_exon:E3 0.500000 63 ATG12:exon_block:E2-E4 1.000000 3864 ATG12:boundary_CDS_coverage:after_E1 1.000000 257 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATG4D ENST00000309469.9 7 7 0 0 0 10 49 ATG4D:single_exon:E5 0.142857 65 ATG4D:exon_block:E5-E9 0.571429 472 ATG4D:boundary_CDS_coverage:after_E2 0.857143 1103 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATG7 ENST00000693202.1 9 6 5 0 3 21 115 ATG7:single_exon:E16 0.222222 204 ATG7:exon_block:E16-E20 0.555556 600 ATG7:boundary_CDS_coverage:after_E6 1.000000 1776 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATG9B ENST00000639579.2 1 1 0 0 0 14 72 ATG9B:single_exon:E6 1.000000 755 ATG9B:exon_block:E5-E6 1.000000 897 ATG9B:boundary_CDS_coverage:after_E5 1.000000 1809 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATIC ENST00000236959.14 8 4 4 0 2 16 85 ATIC:single_exon:E5 0.250000 89 ATIC:exon_block:E2-E5 0.375000 360 ATIC:boundary_CDS_coverage:after_E1 1.000000 1757 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATL1 ENST00000358385.12 92 88 24 0 4 14 73 ATL1:single_exon:E12 0.315217 432 ATL1:exon_block:E8-E12 0.652174 828 ATL1:boundary_CDS_coverage:after_E1 1.000000 1640 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATL3 ENST00000398868.8 3 3 0 0 0 13 67 ATL3:single_exon:E6 0.333333 57 ATL3:exon_block:E10-E11 0.666667 129 ATL3:boundary_CDS_coverage:after_E5 1.000000 1062 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATM ENST00000675843.1 3732 3126 1019 5 600 63 367 ATM:single_exon:E10 0.033762 372 ATM:exon_block:E7-E11 0.116559 1140 ATM:boundary_CDS_coverage:after_E1 0.999732 9168 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATN1 ENST00000396684.3 10 10 0 0 0 10 49 ATN1:single_exon:E7 1.000000 697 ATN1:exon_block:E7-E8 1.000000 841 ATN1:boundary_CDS_coverage:after_E6 1.000000 1053 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATOH1 ENST00000306011.6 3 3 0 0 0 1 1 ATOH1:single_exon:E1 1.000000 2212 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATOH7 ENST00000373673.5 5 4 0 0 0 1 1 ATOH7:single_exon:E1 0.800000 1519 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP11A ENST00000375645.8 6 4 3 0 2 30 168 ATP11A:single_exon:E26 0.166667 66 ATP11A:exon_block:E1-E5 0.500000 820 ATP11A:boundary_CDS_coverage:after_E2 0.833333 3240 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP11C ENST00000682941.1 2 1 1 0 1 30 168 ATP11C:single_exon:E16 0.500000 74 ATP11C:exon_block:E13-E16 1.000000 460 ATP11C:boundary_CDS_coverage:after_E12 1.000000 2181 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP13A2 ENST00000326735.13 90 71 32 0 19 29 163 ATP13A2:single_exon:E27 0.088889 152 ATP13A2:exon_block:E15-E19 0.277778 773 ATP13A2:boundary_CDS_coverage:after_E1 1.000000 3530 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP13A3 ENST00000645319.2 8 7 2 0 1 34 193 ATP13A3:single_exon:E31 0.375000 89 ATP13A3:exon_block:E29-E31 0.500000 455 ATP13A3:boundary_CDS_coverage:after_E20 1.000000 1648 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP1A1 ENST00000295598.10 27 27 2 0 0 23 127 ATP1A1:single_exon:E8 0.296296 269 ATP1A1:exon_block:E4-E8 0.407407 840 ATP1A1:boundary_CDS_coverage:after_E2 1.000000 2946 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP1A2 ENST00000361216.8 134 114 43 2 18 23 127 ATP1A2:single_exon:E9 0.126866 199 ATP1A2:exon_block:E8-E12 0.328358 903 ATP1A2:boundary_CDS_coverage:after_E1 1.000000 3048 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP1A3 ENST00000648268.1 171 153 41 2 15 23 127 ATP1A3:single_exon:E17 0.169591 155 ATP1A3:exon_block:E16-E20 0.485380 725 ATP1A3:boundary_CDS_coverage:after_E1 1.000000 3033 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP2A1 ENST00000395503.9 66 51 22 0 15 23 126 ATP2A1:single_exon:E14 0.136364 219 ATP2A1:exon_block:E14-E18 0.393939 1065 ATP2A1:boundary_CDS_coverage:after_E1 0.969697 2864 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP2A2 ENST00000539276.7 91 80 21 0 11 20 109 ATP2A2:single_exon:E15 0.142857 221 ATP2A2:exon_block:E12-E16 0.373626 1102 ATP2A2:boundary_CDS_coverage:after_E1 0.956044 3008 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP2B1 ENST00000428670.8 41 34 14 0 7 21 115 ATP2B1:single_exon:E16 0.195122 192 ATP2B1:exon_block:E16-E20 0.414634 909 ATP2B1:boundary_CDS_coverage:after_E1 1.000000 3660 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP2B2 ENST00000360273.7 48 39 15 0 9 23 127 ATP2B2:single_exon:E14 0.145833 235 ATP2B2:exon_block:E11-E15 0.395833 1115 ATP2B2:boundary_CDS_coverage:after_E1 1.000000 3729 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP2B3 ENST00000263519.5 9 9 1 0 0 22 121 ATP2B3:single_exon:E10 0.333333 215 ATP2B3:exon_block:E18-E22 0.444444 3669 ATP2B3:boundary_CDS_coverage:after_E1 1.000000 3660 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP2C1 ENST00000510168.6 53 36 28 0 17 28 157 ATP2C1:single_exon:E20 0.113208 98 ATP2C1:exon_block:E17-E21 0.377358 582 ATP2C1:boundary_CDS_coverage:after_E3 1.000000 2640 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP5F1A ENST00000398752.11 5 4 2 0 1 12 61 ATP5F1A:single_exon:E8 0.400000 225 ATP5F1A:exon_block:E5-E9 0.800000 801 ATP5F1A:boundary_CDS_coverage:after_E3 1.000000 1350 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP5F1B ENST00000262030.8 1 1 0 0 0 10 49 ATP5F1B:single_exon:E7 1.000000 123 ATP5F1B:exon_block:E6-E7 1.000000 282 ATP5F1B:boundary_CDS_coverage:after_E6 1.000000 636 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP5F1D ENST00000215375.7 2 2 0 0 0 4 13 ATP5F1D:single_exon:E3 0.500000 89 ATP5F1D:exon_block:E2-E3 1.000000 243 ATP5F1D:boundary_CDS_coverage:after_E1 1.000000 363 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP5F1E ENST00000243997.8 1 1 1 0 0 3 7 ATP5F1E:single_exon:E2 1.000000 127 ATP5F1E:exon_block:E1-E2 1.000000 243 ATP5F1E:boundary_CDS_coverage:after_E1 1.000000 121 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP5MC3 ENST00000284727.9 3 3 2 0 0 5 19 ATP5MC3:single_exon:E5 0.666667 2145 ATP5MC3:exon_block:E4-E5 1.000000 2339 ATP5MC3:boundary_CDS_coverage:after_E3 1.000000 306 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP5ME ENST00000304312.5 3 0 0 0 0 4 13 ATP5ME:single_exon:E2 0.000000 55 ATP5ME:exon_block:E1-E2 0.000000 120 ATP5ME:boundary_CDS_coverage:after_E3 1.000000 17 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP5MK ENST00000369815.6 3 0 3 0 3 5 18 ATP5MK:single_exon:E3 1.000000 96 ATP5MK:exon_block:E3-E4 1.000000 189 ATP5MK:boundary_CDS_coverage:after_E3 1.000000 87 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP5PO ENST00000290299.7 3 1 2 0 2 7 31 ATP5PO:single_exon:E2 0.333333 51 ATP5PO:exon_block:E1-E2 0.666667 128 ATP5PO:boundary_CDS_coverage:after_E2 0.666667 552 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6AP1 ENST00000369762.7 13 9 1 0 3 10 49 ATP6AP1:single_exon:E2 0.230769 127 ATP6AP1:exon_block:E2-E6 0.461538 523 ATP6AP1:boundary_CDS_coverage:after_E1 1.000000 1249 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6AP2 ENST00000636580.2 6 5 1 0 1 9 43 ATP6AP2:single_exon:E4 0.333333 96 ATP6AP2:exon_block:E3-E7 0.833333 570 ATP6AP2:boundary_CDS_coverage:after_E2 1.000000 882 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V0A1 ENST00000343619.9 12 9 4 0 3 22 121 ATP6V0A1:single_exon:E3 0.250000 79 ATP6V0A1:exon_block:E13-E15 0.333333 365 ATP6V0A1:boundary_CDS_coverage:after_E2 1.000000 2394 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V0A2 ENST00000330342.8 73 56 35 0 17 20 109 ATP6V0A2:single_exon:E9 0.095890 213 ATP6V0A2:exon_block:E9-E13 0.328767 780 ATP6V0A2:boundary_CDS_coverage:after_E1 0.945205 2451 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V0A4 ENST00000310018.7 85 56 43 0 29 22 121 ATP6V0A4:single_exon:E13 0.094118 140 ATP6V0A4:exon_block:E11-E15 0.352941 756 ATP6V0A4:boundary_CDS_coverage:after_E1 1.000000 2520 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V0C ENST00000330398.9 21 20 2 1 0 3 8 ATP6V0C:single_exon:E3 0.619048 678 ATP6V0C:exon_block:E1-E3 1.000000 1093 ATP6V0C:boundary_CDS_coverage:after_E1 0.904762 386 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V1A ENST00000273398.8 25 25 5 0 0 15 79 ATP6V1A:single_exon:E8 0.320000 109 ATP6V1A:exon_block:E7-E11 0.720000 574 ATP6V1A:boundary_CDS_coverage:after_E1 1.000000 1851 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V1B1 ENST00000234396.10 127 95 52 0 32 14 73 ATP6V1B1:single_exon:E3 0.118110 99 ATP6V1B1:exon_block:E10-E14 0.393701 943 ATP6V1B1:boundary_CDS_coverage:after_E1 0.897638 1421 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V1B2 ENST00000276390.7 18 18 1 0 0 14 73 ATP6V1B2:single_exon:E14 0.277778 1434 ATP6V1B2:exon_block:E10-E14 0.666667 1903 ATP6V1B2:boundary_CDS_coverage:after_E5 0.944444 1070 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V1C1 ENST00000518738.2 1 1 0 0 0 13 67 ATP6V1C1:single_exon:E11 1.000000 98 ATP6V1C1:exon_block:E10-E11 1.000000 192 ATP6V1C1:boundary_CDS_coverage:after_E10 1.000000 318 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V1C2 ENST00000272238.9 1 1 0 0 0 14 73 ATP6V1C2:single_exon:E7 1.000000 99 ATP6V1C2:exon_block:E7-E8 1.000000 168 ATP6V1C2:boundary_CDS_coverage:after_E6 1.000000 811 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP6V1E1 ENST00000253413.10 1 1 0 0 0 9 43 ATP6V1E1:single_exon:E9 1.000000 601 ATP6V1E1:exon_block:E8-E9 1.000000 689 ATP6V1E1:boundary_CDS_coverage:after_E8 1.000000 60 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP7A ENST00000341514.11 254 214 75 0 40 23 127 ATP7A:single_exon:E4 0.106299 726 ATP7A:exon_block:E3-E7 0.311024 1749 ATP7A:boundary_CDS_coverage:after_E1 1.000000 4500 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP7B ENST00000242839.10 858 743 193 0 114 21 115 ATP7B:single_exon:E2 0.166667 1234 ATP7B:exon_block:E2-E6 0.292541 1895 ATP7B:boundary_CDS_coverage:after_E1 0.994172 4344 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP8A1 ENST00000381668.9 1 1 1 0 0 37 211 ATP8A1:single_exon:E24 1.000000 65 ATP8A1:exon_block:E23-E24 1.000000 204 ATP8A1:boundary_CDS_coverage:after_E23 1.000000 1406 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP8A2 ENST00000381655.7 49 32 24 0 17 37 211 ATP8A2:single_exon:E12 0.102041 128 ATP8A2:exon_block:E10-E14 0.224490 573 ATP8A2:boundary_CDS_coverage:after_E1 1.000000 3488 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP8B1 ENST00000648908.2 131 106 41 0 25 28 157 ATP8B1:single_exon:E22 0.091603 289 ATP8B1:exon_block:E22-E26 0.312977 982 ATP8B1:boundary_CDS_coverage:after_E1 1.000000 3753 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP8B3 ENST00000310127.10 1 1 0 0 0 29 163 ATP8B3:single_exon:E11 1.000000 159 ATP8B3:exon_block:E10-E11 1.000000 242 ATP8B3:boundary_CDS_coverage:after_E10 1.000000 2996 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATP9A ENST00000338821.6 12 9 5 0 3 28 157 ATP9A:single_exon:E3 0.166667 114 ATP9A:exon_block:E7-E11 0.416667 490 ATP9A:boundary_CDS_coverage:after_E2 1.000000 2928 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATPAF2 ENST00000474627.8 1 1 0 0 0 8 37 ATPAF2:single_exon:E1 1.000000 288 ATPAF2:exon_block:E1-E2 1.000000 333 ATPAF2:boundary_CDS_coverage:after_E7 0.000000 135 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATR ENST00000350721.9 137 105 40 0 32 47 271 ATR:single_exon:E4 0.102190 878 ATR:exon_block:E2-E6 0.197080 1482 ATR:boundary_CDS_coverage:after_E1 1.000000 7873 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATRIP ENST00000320211.10 79 0 2 77 2 13 67 ATRIP:single_exon:E13 0.974684 2159 ATRIP:exon_block:E12-E13 0.974684 2412 ATRIP:boundary_CDS_coverage:after_E5 1.000000 1544 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATRX ENST00000373344.11 144 124 39 0 20 35 199 ATRX:single_exon:E9 0.256944 3074 ATRX:exon_block:E6-E9 0.368056 3366 ATRX:boundary_CDS_coverage:after_E1 1.000000 7456 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATXN10 ENST00000252934.10 1 0 0 0 1 12 60 ATXN10:single_exon:E10 0.000000 64 ATXN10:exon_block:E3-E4 0.000000 180 ATXN10:boundary_CDS_coverage:after_E9 1.000000 252 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATXN2 ENST00000673436.1 5 5 0 0 0 25 139 ATXN2:single_exon:E1 0.800000 532 ATXN2:exon_block:E1-E2 0.800000 569 ATXN2:boundary_CDS_coverage:after_E10 0.200000 2090 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATXN3 ENST00000644486.2 1 1 0 0 0 11 55 ATXN3:single_exon:E10 1.000000 119 ATXN3:exon_block:E9-E10 1.000000 216 ATXN3:boundary_CDS_coverage:after_E9 1.000000 211 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ATXN7 ENST00000674280.1 3 3 0 0 0 13 67 ATXN7:single_exon:E9 0.333333 266 ATXN7:exon_block:E9-E12 0.666667 1566 ATXN7:boundary_CDS_coverage:after_E1 1.000000 2676 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AUH ENST00000375731.9 33 24 13 0 9 10 49 AUH:single_exon:E7 0.212121 188 AUH:exon_block:E4-E8 0.636364 476 AUH:boundary_CDS_coverage:after_E1 0.818182 755 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AURKA ENST00000395915.8 1 1 1 0 0 9 43 AURKA:single_exon:E9 1.000000 951 AURKA:exon_block:E8-E9 1.000000 1126 AURKA:boundary_CDS_coverage:after_E8 1.000000 180 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AURKB ENST00000585124.6 1 1 0 0 0 9 43 AURKB:single_exon:E8 1.000000 175 AURKB:exon_block:E7-E8 1.000000 324 AURKB:boundary_CDS_coverage:after_E7 1.000000 346 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AURKC ENST00000302804.12 6 5 2 0 1 7 31 AURKC:single_exon:E5 0.333333 149 AURKC:exon_block:E3-E6 0.833333 655 AURKC:boundary_CDS_coverage:after_E2 0.833333 823 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AUTS2 ENST00000342771.10 104 92 20 0 12 19 103 AUTS2:single_exon:E9 0.201923 221 AUTS2:exon_block:E6-E9 0.500000 999 AUTS2:boundary_CDS_coverage:after_E1 0.913462 3468 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AVIL ENST00000549994.2 4 4 1 0 0 20 109 AVIL:single_exon:E5 0.250000 109 AVIL:exon_block:E12-E13 0.500000 297 AVIL:boundary_CDS_coverage:after_E4 1.000000 2119 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AVP ENST00000380293.3 34 32 5 0 2 3 8 AVP:single_exon:E2 0.647059 202 AVP:exon_block:E1-E3 1.000000 619 AVP:boundary_CDS_coverage:after_E1 0.823529 372 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AVPR2 ENST00000646375.2 109 104 5 0 4 4 13 AVPR2:single_exon:E3 0.862385 885 AVPR2:exon_block:E2-E4 0.990826 1726 AVPR2:boundary_CDS_coverage:after_E1 0.990826 1113 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AXDND1 ENST00000367618.8 49 1 1 2 46 26 145 AXDND1:single_exon:E26 0.061224 224 AXDND1:exon_block:E25-E26 0.061224 457 AXDND1:boundary_CDS_coverage:after_E9 1.000000 2173 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AXIN1 ENST00000262320.8 4 3 2 0 1 11 55 AXIN1:single_exon:E11 0.500000 809 AXIN1:exon_block:E9-E11 0.750000 1085 AXIN1:boundary_CDS_coverage:after_E4 1.000000 1470 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AXIN2 ENST00000307078.10 196 178 25 0 18 11 55 AXIN2:single_exon:E2 0.290816 931 AXIN2:exon_block:E2-E6 0.673469 1828 AXIN2:boundary_CDS_coverage:after_E1 1.000000 2529 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true AXL ENST00000301178.9 1 1 0 0 0 20 109 AXL:single_exon:E18 1.000000 160 AXL:exon_block:E17-E18 1.000000 270 AXL:boundary_CDS_coverage:after_E17 1.000000 646 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B2M ENST00000648006.3 5 3 2 0 2 4 12 B2M:single_exon:E1 0.600000 97 B2M:exon_block:E1-E2 1.000000 376 B2M:boundary_CDS_coverage:after_E1 0.600000 290 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B3GALNT2 ENST00000366600.8 64 43 23 0 16 12 61 B3GALNT2:single_exon:E10 0.125000 160 B3GALNT2:exon_block:E6-E10 0.546875 660 B3GALNT2:boundary_CDS_coverage:after_E1 0.937500 1388 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B3GALT1 ENST00000392690.4 1 1 0 0 0 5 19 B3GALT1:single_exon:E5 1.000000 5235 B3GALT1:exon_block:E4-E5 1.000000 5357 B3GALT1:boundary_CDS_coverage:after_E1 1.000000 978 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B3GALT6 ENST00000379198.5 36 35 0 0 0 1 1 B3GALT6:single_exon:E1 0.972222 2805 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B3GAT3 ENST00000265471.10 32 29 5 0 3 5 19 B3GAT3:single_exon:E2 0.281250 175 B3GAT3:exon_block:E1-E5 1.000000 1452 B3GAT3:boundary_CDS_coverage:after_E1 0.875000 923 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B3GLCT ENST00000343307.5 22 14 11 0 8 15 79 B3GLCT:single_exon:E13 0.318182 120 B3GLCT:exon_block:E11-E13 0.454545 334 B3GLCT:boundary_CDS_coverage:after_E1 1.000000 1424 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B3GNT4 ENST00000324189.5 1 0 0 1 0 3 8 B3GNT4:single_exon:E3 1.000000 2635 B3GNT4:exon_block:E2-E3 1.000000 2798 B3GNT4:boundary_CDS_coverage:after_E2 1.000000 1068 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B3GNT6 ENST00000622824.1 1 1 0 0 0 2 4 B3GNT6:single_exon:E2 1.000000 2422 B3GNT6:exon_block:E1-E2 1.000000 2503 B3GNT6:boundary_CDS_coverage:after_E1 1.000000 1152 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B4GALNT1 ENST00000341156.9 40 32 12 0 8 11 55 B4GALNT1:single_exon:E6 0.225000 181 B4GALNT1:exon_block:E3-E7 0.500000 593 B4GALNT1:boundary_CDS_coverage:after_E1 1.000000 1599 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B4GALNT3 ENST00000266383.10 1 0 1 0 1 20 109 B4GALNT3:single_exon:E14 1.000000 790 B4GALNT3:exon_block:E13-E14 1.000000 852 B4GALNT3:boundary_CDS_coverage:after_E13 1.000000 1724 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B4GALT1 ENST00000379731.5 3 3 1 0 0 6 25 B4GALT1:single_exon:E5 0.666667 105 B4GALT1:exon_block:E2-E5 1.000000 652 B4GALT1:boundary_CDS_coverage:after_E1 1.000000 782 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B4GALT3 ENST00000319769.10 1 0 0 0 0 8 37 B4GALT3:single_exon:E1 0.000000 85 B4GALT3:exon_block:E6-E7 0.000000 228 B4GALT3:boundary_CDS_coverage:after_E7 1.000000 271 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B4GALT7 ENST00000029410.10 24 21 4 0 3 6 25 B4GALT7:single_exon:E2 0.500000 363 B4GALT7:exon_block:E1-E5 1.000000 907 B4GALT7:boundary_CDS_coverage:after_E1 0.958333 931 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B4GAT1 ENST00000311181.5 6 6 0 0 0 2 4 B4GAT1:single_exon:E2 0.666667 867 B4GAT1:exon_block:E1-E2 1.000000 2007 B4GAT1:boundary_CDS_coverage:after_E1 0.666667 189 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B9D1 ENST00000261499.11 14 11 6 0 3 7 31 B9D1:single_exon:E5 0.214286 63 B9D1:exon_block:E4-E7 0.857143 515 B9D1:boundary_CDS_coverage:after_E3 0.928571 368 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true B9D2 ENST00000243578.8 10 10 2 0 0 4 13 B9D2:single_exon:E3 0.400000 126 B9D2:exon_block:E2-E4 1.000000 815 B9D2:boundary_CDS_coverage:after_E1 1.000000 525 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BAAT ENST00000259407.7 6 6 0 0 0 4 13 BAAT:single_exon:E2 0.666667 525 BAAT:exon_block:E2-E4 1.000000 3327 BAAT:boundary_CDS_coverage:after_E1 1.000000 1254 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BACH2 ENST00000257749.9 1 1 0 0 0 9 43 BACH2:single_exon:E6 1.000000 255 BACH2:exon_block:E5-E6 1.000000 404 BACH2:boundary_CDS_coverage:after_E1 1.000000 2523 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BAG3 ENST00000369085.8 154 147 10 0 7 4 13 BAG3:single_exon:E4 0.324675 1356 BAG3:exon_block:E1-E4 0.980519 2561 BAG3:boundary_CDS_coverage:after_E1 0.876623 1545 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BAG5 ENST00000299204.6 5 5 0 0 0 2 4 BAG5:single_exon:E2 1.000000 4642 BAG5:exon_block:E1-E2 1.000000 4684 BAG5:boundary_CDS_coverage:after_E1 1.000000 1341 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BAIAP2 ENST00000428708.7 6 6 0 0 0 14 73 BAIAP2:single_exon:E9 0.666667 202 BAIAP2:exon_block:E7-E10 1.000000 779 BAIAP2:boundary_CDS_coverage:after_E6 1.000000 1113 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BAP1 ENST00000460680.6 413 329 135 2 82 17 91 BAP1:single_exon:E13 0.184019 479 BAP1:exon_block:E10-E14 0.433414 1107 BAP1:boundary_CDS_coverage:after_E1 0.968523 2150 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BARD1 ENST00000260947.9 610 527 109 1 82 11 55 BARD1:single_exon:E4 0.393443 950 BARD1:exon_block:E4-E8 0.627869 1446 BARD1:boundary_CDS_coverage:after_E1 0.947541 2173 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BAX ENST00000345358.12 4 3 0 0 1 6 25 BAX:single_exon:E3 0.750000 147 BAX:exon_block:E2-E3 0.750000 199 BAX:boundary_CDS_coverage:after_E2 1.000000 490 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BAZ1A ENST00000360310.6 1 1 0 0 0 27 151 BAZ1A:single_exon:E21 1.000000 149 BAZ1A:exon_block:E20-E21 1.000000 304 BAZ1A:boundary_CDS_coverage:after_E20 1.000000 1516 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BAZ2B ENST00000392783.7 18 13 7 0 5 37 211 BAZ2B:single_exon:E20 0.111111 66 BAZ2B:exon_block:E8-E11 0.333333 1355 BAZ2B:boundary_CDS_coverage:after_E1 1.000000 6504 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBIP1 ENST00000448814.7 2 2 1 0 0 4 13 BBIP1:single_exon:E3 0.500000 75 BBIP1:exon_block:E3-E4 1.000000 1872 BBIP1:boundary_CDS_coverage:after_E2 1.000000 239 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBOF1 ENST00000394009.5 7 0 0 3 1 12 61 BBOF1:single_exon:E12 0.428571 1405 BBOF1:exon_block:E11-E12 0.428571 1520 BBOF1:boundary_CDS_coverage:after_E11 1.000000 9 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBS1 ENST00000318312.12 226 158 92 1 67 17 91 BBS1:single_exon:E11 0.106195 159 BBS1:exon_block:E9-E13 0.393805 616 BBS1:boundary_CDS_coverage:after_E1 0.955752 1732 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBS10 ENST00000650064.2 267 263 7 0 4 2 4 BBS10:single_exon:E2 0.887640 3314 BBS10:exon_block:E1-E2 1.000000 3568 BBS10:boundary_CDS_coverage:after_E1 0.898876 1972 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBS12 ENST00000314218.8 183 182 0 1 0 2 4 BBS12:single_exon:E2 1.000000 3057 BBS12:exon_block:E1-E2 1.000000 3238 BBS12:boundary_CDS_coverage:after_E1 1.000000 2130 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBS2 ENST00000245157.11 264 200 98 0 64 17 91 BBS2:single_exon:E2 0.125000 228 BBS2:exon_block:E2-E6 0.340909 600 BBS2:boundary_CDS_coverage:after_E1 0.954545 2046 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBS4 ENST00000268057.9 157 107 70 0 50 16 85 BBS4:single_exon:E14 0.127389 142 BBS4:exon_block:E11-E15 0.433121 739 BBS4:boundary_CDS_coverage:after_E1 0.974522 1533 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBS5 ENST00000295240.8 70 50 32 0 19 12 61 BBS5:single_exon:E6 0.157143 136 BBS5:exon_block:E3-E7 0.542857 476 BBS5:boundary_CDS_coverage:after_E1 0.871429 964 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBS7 ENST00000264499.9 139 109 55 0 30 19 103 BBS7:single_exon:E4 0.093525 176 BBS7:exon_block:E4-E8 0.381295 684 BBS7:boundary_CDS_coverage:after_E1 1.000000 2109 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BBS9 ENST00000242067.11 146 110 58 0 36 23 127 BBS9:single_exon:E8 0.095890 184 BBS9:exon_block:E17-E21 0.328767 828 BBS9:boundary_CDS_coverage:after_E1 1.000000 2661 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCAM ENST00000270233.12 4 4 0 0 0 15 79 BCAM:single_exon:E6 0.500000 183 BCAM:exon_block:E3-E7 1.000000 717 BCAM:boundary_CDS_coverage:after_E2 1.000000 1680 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCAP31 ENST00000345046.12 17 11 5 1 4 8 37 BCAP31:single_exon:E5 0.294118 136 BCAP31:exon_block:E2-E6 0.823529 645 BCAP31:boundary_CDS_coverage:after_E1 1.000000 738 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCAR1 ENST00000162330.10 1 0 1 0 1 7 31 BCAR1:single_exon:E1 1.000000 154 BCAR1:exon_block:E1-E2 1.000000 775 BCAR1:boundary_CDS_coverage:after_E1 1.000000 2598 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCAS3 ENST00000407086.8 16 16 6 0 0 24 133 BCAS3:single_exon:E6 0.125000 82 BCAS3:exon_block:E15-E19 0.375000 808 BCAS3:boundary_CDS_coverage:after_E1 1.000000 2739 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCAT2 ENST00000316273.11 8 7 1 0 1 11 55 BCAT2:single_exon:E7 0.375000 143 BCAT2:exon_block:E5-E8 0.875000 513 BCAT2:boundary_CDS_coverage:after_E2 1.000000 1077 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCHE ENST00000264381.8 57 53 5 0 4 4 13 BCHE:single_exon:E2 0.912281 1525 BCHE:exon_block:E2-E4 1.000000 2295 BCHE:boundary_CDS_coverage:after_E1 1.000000 1806 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCKDHA ENST00000269980.7 182 156 54 1 25 9 43 BCKDHA:single_exon:E6 0.225275 207 BCKDHA:exon_block:E5-E9 0.637363 1248 BCKDHA:boundary_CDS_coverage:after_E1 0.945055 1227 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCKDHB ENST00000320393.9 225 189 74 0 34 10 49 BCKDHB:single_exon:E5 0.213333 156 BCKDHB:exon_block:E1-E5 0.608889 656 BCKDHB:boundary_CDS_coverage:after_E1 0.840000 980 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCKDK ENST00000219794.11 17 14 6 0 2 12 61 BCKDK:single_exon:E6 0.294118 120 BCKDK:exon_block:E2-E6 0.529412 720 BCKDK:boundary_CDS_coverage:after_E1 0.941176 1236 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCL10 ENST00000648566.1 20 19 2 0 1 3 8 BCL10:single_exon:E2 0.500000 289 BCL10:exon_block:E1-E3 1.000000 2833 BCL10:boundary_CDS_coverage:after_E1 0.950000 642 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCL11A ENST00000642384.2 92 82 12 1 9 4 13 BCL11A:single_exon:E4 0.586957 5231 BCL11A:exon_block:E1-E4 1.000000 6102 BCL11A:boundary_CDS_coverage:after_E1 0.913043 2450 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCL11B ENST00000357195.8 68 67 1 0 1 4 13 BCL11B:single_exon:E4 0.897059 6909 BCL11B:exon_block:E1-E4 1.000000 8528 BCL11B:boundary_CDS_coverage:after_E1 0.985294 2624 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCLAF1 ENST00000531224.6 2 2 0 0 0 13 67 BCLAF1:single_exon:E4 1.000000 912 BCLAF1:exon_block:E3-E4 1.000000 1026 BCLAF1:boundary_CDS_coverage:after_E3 1.000000 2656 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCOR ENST00000378444.9 114 100 16 0 14 15 79 BCOR:single_exon:E4 0.359649 2832 BCOR:exon_block:E4-E8 0.640351 3682 BCOR:boundary_CDS_coverage:after_E3 1.000000 5100 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCORL1 ENST00000540052.6 7 7 1 0 0 14 73 BCORL1:single_exon:E4 0.428571 3264 BCORL1:exon_block:E3-E7 0.714286 3992 BCORL1:boundary_CDS_coverage:after_E2 1.000000 5269 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BCS1L ENST00000359273.8 139 124 27 0 15 8 37 BCS1L:single_exon:E2 0.237410 369 BCS1L:exon_block:E2-E6 0.805755 938 BCS1L:boundary_CDS_coverage:after_E1 1.000000 1257 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BDNF ENST00000356660.9 2 2 0 0 0 2 4 BDNF:single_exon:E2 1.000000 3693 BDNF:exon_block:E1-E2 1.000000 3985 BDNF:boundary_CDS_coverage:after_E1 1.000000 741 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BDP1 ENST00000358731.9 3 3 0 0 0 39 223 BDP1:single_exon:E12 0.333333 159 BDP1:exon_block:E36-E37 0.333333 296 BDP1:boundary_CDS_coverage:after_E11 1.000000 6232 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BEST1 ENST00000378043.9 335 315 52 0 17 11 55 BEST1:single_exon:E8 0.191045 81 BEST1:exon_block:E2-E6 0.623881 750 BEST1:boundary_CDS_coverage:after_E1 1.000000 1755 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BFSP1 ENST00000377873.8 7 5 2 0 2 8 37 BFSP1:single_exon:E7 0.285714 86 BFSP1:exon_block:E6-E8 0.714286 1432 BFSP1:boundary_CDS_coverage:after_E5 0.857143 1260 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BFSP2 ENST00000302334.3 3 3 0 0 0 7 31 BFSP2:single_exon:E1 0.666667 517 BFSP2:exon_block:E1-E3 1.000000 757 BFSP2:boundary_CDS_coverage:after_E2 0.333333 673 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BGN ENST00000331595.9 17 12 6 0 5 8 37 BGN:single_exon:E2 0.352941 249 BGN:exon_block:E2-E6 0.882353 781 BGN:boundary_CDS_coverage:after_E1 1.000000 1104 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BHLHA9 ENST00000391429.2 5 5 0 0 0 1 1 BHLHA9:single_exon:E1 1.000000 1372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BICC1 ENST00000373886.8 5 3 3 0 2 21 115 BICC1:single_exon:E4 0.200000 80 BICC1:exon_block:E13-E17 0.400000 651 BICC1:boundary_CDS_coverage:after_E4 0.800000 2535 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BICD2 ENST00000356884.11 38 38 5 0 0 7 31 BICD2:single_exon:E5 0.526316 1044 BICD2:exon_block:E2-E6 0.947368 2018 BICD2:boundary_CDS_coverage:after_E1 1.000000 2325 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BICRA ENST00000594866.3 43 42 5 0 1 15 79 BICRA:single_exon:E6 0.627907 1956 BICRA:exon_block:E6-E8 0.720930 2745 BICRA:boundary_CDS_coverage:after_E5 1.000000 4530 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BIN1 ENST00000316724.10 8 7 2 0 1 19 103 BIN1:single_exon:E6 0.375000 108 BIN1:exon_block:E2-E6 0.625000 435 BIN1:boundary_CDS_coverage:after_E1 1.000000 1695 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BIRC3 ENST00000263464.9 7 6 1 1 0 9 43 BIRC3:single_exon:E9 0.428571 2495 BIRC3:exon_block:E7-E9 0.714286 2792 BIRC3:boundary_CDS_coverage:after_E1 1.000000 1812 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BLK ENST00000259089.9 3 2 0 0 0 13 67 BLK:single_exon:E11 0.333333 151 BLK:exon_block:E9-E11 0.666667 408 BLK:boundary_CDS_coverage:after_E8 0.666667 743 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BLM ENST00000355112.8 583 504 133 0 79 22 121 BLM:single_exon:E7 0.154374 662 BLM:exon_block:E3-E7 0.401372 1784 BLM:boundary_CDS_coverage:after_E1 1.000000 4251 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BLNK ENST00000224337.10 15 10 7 0 5 17 91 BLNK:single_exon:E5 0.200000 157 BLNK:exon_block:E1-E5 0.533333 532 BLNK:boundary_CDS_coverage:after_E1 0.933333 1321 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BLOC1S3 ENST00000433642.3 5 5 0 0 0 2 4 BLOC1S3:single_exon:E2 1.000000 2513 BLOC1S3:exon_block:E1-E2 1.000000 2561 BLOC1S3:boundary_CDS_coverage:after_E1 1.000000 606 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BLOC1S5 ENST00000397457.7 5 4 1 0 1 5 19 BLOC1S5:single_exon:E4 0.400000 59 BLOC1S5:exon_block:E1-E4 1.000000 397 BLOC1S5:boundary_CDS_coverage:after_E1 0.600000 449 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BLOC1S6 ENST00000220531.9 27 20 13 0 7 5 19 BLOC1S6:single_exon:E2 0.370370 142 BLOC1S6:exon_block:E1-E4 1.000000 464 BLOC1S6:boundary_CDS_coverage:after_E1 0.888889 434 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BLTP1 ENST00000679879.1 53 40 19 0 13 88 517 BLTP1:single_exon:E29 0.094340 838 BLTP1:exon_block:E29-E33 0.188679 1351 BLTP1:boundary_CDS_coverage:after_E4 1.000000 15065 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BLVRA ENST00000265523.9 3 3 1 0 0 8 37 BLVRA:single_exon:E3 0.666667 122 BLVRA:exon_block:E3-E4 1.000000 242 BLVRA:boundary_CDS_coverage:after_E2 1.000000 876 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMP1 ENST00000306385.10 48 34 17 0 14 20 109 BMP1:single_exon:E1 0.104167 182 BMP1:exon_block:E1-E5 0.333333 764 BMP1:boundary_CDS_coverage:after_E1 0.895833 2810 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMP15 ENST00000252677.4 11 10 1 0 0 2 4 BMP15:single_exon:E2 0.727273 885 BMP15:exon_block:E1-E2 1.000000 1262 BMP15:boundary_CDS_coverage:after_E1 0.727273 848 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMP2 ENST00000378827.5 31 27 2 1 2 3 8 BMP2:single_exon:E3 0.580645 2002 BMP2:exon_block:E2-E3 0.967742 2355 BMP2:boundary_CDS_coverage:after_E1 1.000000 1188 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMP4 ENST00000245451.9 16 15 1 0 1 4 13 BMP4:single_exon:E3 0.500000 377 BMP4:exon_block:E3-E4 1.000000 1530 BMP4:boundary_CDS_coverage:after_E1 1.000000 1224 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMP5 ENST00000370830.4 2 1 1 0 1 7 31 BMP5:single_exon:E5 0.500000 77 BMP5:exon_block:E1-E5 1.000000 1829 BMP5:boundary_CDS_coverage:after_E5 0.500000 258 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMP6 ENST00000283147.7 1 1 0 0 0 7 31 BMP6:single_exon:E1 1.000000 1521 BMP6:exon_block:E1-E2 1.000000 1714 BMP6:boundary_CDS_coverage:after_E6 0.000000 147 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMP7 ENST00000395863.8 2 2 0 0 0 7 31 BMP7:single_exon:E2 0.500000 193 BMP7:exon_block:E1-E2 1.000000 1130 BMP7:boundary_CDS_coverage:after_E1 0.500000 875 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMPER ENST00000649409.2 20 17 8 0 3 15 79 BMPER:single_exon:E5 0.150000 91 BMPER:exon_block:E5-E9 0.500000 525 BMPER:boundary_CDS_coverage:after_E2 0.950000 1836 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMPR1A ENST00000372037.8 295 249 70 3 43 13 67 BMPR1A:single_exon:E10 0.206780 298 BMPR1A:exon_block:E8-E12 0.569492 943 BMPR1A:boundary_CDS_coverage:after_E1 0.996610 1596 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMPR1B ENST00000515059.6 18 15 4 0 3 13 67 BMPR1B:single_exon:E9 0.166667 193 BMPR1B:exon_block:E7-E11 0.666667 903 BMPR1B:boundary_CDS_coverage:after_E1 1.000000 1506 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMPR2 ENST00000374580.10 502 422 117 1 77 13 67 BMPR2:single_exon:E12 0.167331 1280 BMPR2:exon_block:E8-E12 0.470120 1899 BMPR2:boundary_CDS_coverage:after_E1 0.960159 3038 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BMS1 ENST00000374518.6 1 1 0 0 0 23 127 BMS1:single_exon:E17 1.000000 181 BMS1:exon_block:E17-E18 1.000000 240 BMS1:boundary_CDS_coverage:after_E16 1.000000 1077 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BNC1 ENST00000345382.7 4 4 0 0 0 5 19 BNC1:single_exon:E4 1.000000 1865 BNC1:exon_block:E3-E4 1.000000 2101 BNC1:boundary_CDS_coverage:after_E3 1.000000 2547 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BNC2 ENST00000380672.9 2 1 0 0 1 7 31 BNC2:single_exon:E7 0.500000 10147 BNC2:exon_block:E6-E7 0.500000 12117 BNC2:boundary_CDS_coverage:after_E6 1.000000 658 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BOD1 ENST00000311086.9 2 2 0 0 0 4 12 BOD1:single_exon:E2 0.500000 125 BOD1:exon_block:E2-E3 1.000000 322 BOD1:boundary_CDS_coverage:after_E1 1.000000 318 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BOLA3 ENST00000327428.10 7 6 3 0 1 4 13 BOLA3:single_exon:E3 0.571429 89 BOLA3:exon_block:E2-E4 1.000000 463 BOLA3:boundary_CDS_coverage:after_E1 1.000000 267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BORCS5 ENST00000314565.9 1 1 0 0 0 4 13 BORCS5:single_exon:E4 1.000000 5688 BORCS5:exon_block:E3-E4 1.000000 5846 BORCS5:boundary_CDS_coverage:after_E3 1.000000 228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BORCS8 ENST00000462790.8 3 3 0 0 0 6 24 BORCS8:single_exon:E2 0.666667 113 BORCS8:exon_block:E2-E3 1.000000 178 BORCS8:boundary_CDS_coverage:after_E1 1.000000 320 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BPGM ENST00000344924.8 4 4 0 0 0 3 8 BPGM:single_exon:E2 1.000000 662 BPGM:exon_block:E1-E2 1.000000 747 BPGM:boundary_CDS_coverage:after_E1 1.000000 777 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BPHL ENST00000380379.10 1 0 0 0 0 7 31 BPHL:single_exon:E2 0.000000 104 BPHL:exon_block:E1-E2 0.000000 241 BPHL:boundary_CDS_coverage:after_E6 1.000000 85 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BPNT1 ENST00000322067.12 1 1 0 0 0 9 43 BPNT1:single_exon:E9 1.000000 1511 BPNT1:exon_block:E8-E9 1.000000 1617 BPNT1:boundary_CDS_coverage:after_E8 1.000000 146 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BPNT2 ENST00000262644.9 11 11 2 0 0 5 19 BPNT2:single_exon:E2 0.454545 163 BPNT2:exon_block:E1-E5 1.000000 7224 BPNT2:boundary_CDS_coverage:after_E1 0.818182 690 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BPTF ENST00000306378.11 72 70 7 0 2 28 157 BPTF:single_exon:E11 0.194444 2311 BPTF:exon_block:E11-E15 0.305556 2759 BPTF:boundary_CDS_coverage:after_E1 0.944444 8147 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRAF ENST00000646891.2 126 126 21 0 0 18 97 BRAF:single_exon:E15 0.214286 119 BRAF:exon_block:E11-E15 0.722222 546 BRAF:boundary_CDS_coverage:after_E4 1.000000 1690 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRAT1 ENST00000340611.9 113 93 35 0 20 14 73 BRAT1:single_exon:E14 0.176991 955 BRAT1:exon_block:E10-E14 0.442478 1404 BRAT1:boundary_CDS_coverage:after_E1 1.000000 2463 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRCA1 ENST00000357654.9 4060 3678 616 9 370 23 127 BRCA1:single_exon:E10 0.561823 3426 BRCA1:exon_block:E10-E14 0.656897 4005 BRCA1:boundary_CDS_coverage:after_E1 0.999754 5589 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRCA2 ENST00000380152.8 5554 5224 593 1 328 27 151 BRCA2:single_exon:E11 0.479474 4932 BRCA2:exon_block:E10-E14 0.637919 6642 BRCA2:boundary_CDS_coverage:after_E1 0.999820 10254 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRD4 ENST00000679869.1 31 27 5 0 4 20 109 BRD4:single_exon:E7 0.096774 129 BRD4:exon_block:E3-E7 0.322581 1056 BRD4:boundary_CDS_coverage:after_E1 1.000000 4086 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRD7 ENST00000394688.8 1 1 0 0 0 17 91 BRD7:single_exon:E16 1.000000 144 BRD7:exon_block:E15-E16 1.000000 288 BRD7:boundary_CDS_coverage:after_E15 1.000000 197 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRDT ENST00000399546.7 1 1 0 0 0 19 103 BRDT:single_exon:E10 1.000000 290 BRDT:exon_block:E10-E11 1.000000 404 BRDT:boundary_CDS_coverage:after_E9 1.000000 1381 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRF1 ENST00000547530.7 12 12 3 0 0 18 97 BRF1:single_exon:E8 0.416667 127 BRF1:exon_block:E6-E8 0.583333 371 BRF1:boundary_CDS_coverage:after_E2 1.000000 1766 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRIP1 ENST00000259008.7 875 732 241 0 143 20 109 BRIP1:single_exon:E7 0.089143 291 BRIP1:exon_block:E5-E9 0.326857 961 BRIP1:boundary_CDS_coverage:after_E1 1.000000 3747 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRME1 ENST00000586783.6 1 0 0 0 0 9 43 BRME1:single_exon:E2 0.000000 52 BRME1:exon_block:E4-E5 0.000000 187 BRME1:boundary_CDS_coverage:after_E8 0.000000 148 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRPF1 ENST00000383829.7 93 88 9 0 5 14 73 BRPF1:single_exon:E3 0.333333 960 BRPF1:exon_block:E2-E5 0.569892 1864 BRPF1:boundary_CDS_coverage:after_E1 1.000000 3660 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRSK1 ENST00000309383.6 1 1 0 0 0 19 103 BRSK1:single_exon:E14 1.000000 370 BRSK1:exon_block:E14-E15 1.000000 419 BRSK1:boundary_CDS_coverage:after_E13 1.000000 987 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRSK2 ENST00000528841.6 23 17 12 0 6 20 109 BRSK2:single_exon:E19 0.173913 48 BRSK2:exon_block:E8-E11 0.347826 442 BRSK2:boundary_CDS_coverage:after_E1 0.956522 2117 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRWD1 ENST00000342449.8 2 2 0 0 0 41 235 BRWD1:single_exon:E8 0.500000 222 BRWD1:exon_block:E8-E9 0.500000 323 BRWD1:boundary_CDS_coverage:after_E7 1.000000 6198 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BRWD3 ENST00000373275.5 66 59 20 0 7 41 235 BRWD3:single_exon:E41 0.075758 7861 BRWD3:exon_block:E33-E37 0.212121 505 BRWD3:boundary_CDS_coverage:after_E2 0.984848 5316 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BSCL2 ENST00000360796.10 58 41 24 1 14 11 55 BSCL2:single_exon:E4 0.206897 144 BSCL2:exon_block:E4-E8 0.637931 586 BSCL2:boundary_CDS_coverage:after_E1 0.965517 1299 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BSN ENST00000296452.5 4 4 0 0 0 12 59 BSN:single_exon:E5 0.750000 6654 BSN:exon_block:E5-E6 1.000000 8731 BSN:boundary_CDS_coverage:after_E4 1.000000 9792 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BSND ENST00000651561.1 39 32 10 0 7 4 13 BSND:single_exon:E1 0.461538 431 BSND:exon_block:E1-E4 0.974359 9761 BSND:boundary_CDS_coverage:after_E1 0.589744 783 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BTD ENST00000643237.3 251 230 26 6 15 4 13 BTD:single_exon:E4 0.693227 9399 BTD:exon_block:E1-E4 0.996016 9964 BTD:boundary_CDS_coverage:after_E1 0.984064 1569 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BTG4 ENST00000692032.1 5 5 1 0 0 5 19 BTG4:single_exon:E2 0.600000 199 BTG4:exon_block:E2-E4 1.000000 536 BTG4:boundary_CDS_coverage:after_E1 1.000000 687 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BTK ENST00000308731.8 348 281 122 1 66 19 103 BTK:single_exon:E18 0.137931 158 BTK:exon_block:E14-E18 0.428161 731 BTK:boundary_CDS_coverage:after_E1 1.000000 1977 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BUB1 ENST00000302759.11 6 4 4 0 2 25 139 BUB1:single_exon:E13 0.333333 111 BUB1:exon_block:E13-E14 0.333333 211 BUB1:boundary_CDS_coverage:after_E4 1.000000 2833 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BUB1B ENST00000287598.11 82 72 20 0 10 23 127 BUB1B:single_exon:E7 0.109756 215 BUB1B:exon_block:E3-E7 0.365854 787 BUB1B:boundary_CDS_coverage:after_E1 1.000000 3115 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true BUD13 ENST00000260210.5 1 1 0 0 0 10 49 BUD13:single_exon:E4 1.000000 714 BUD13:exon_block:E3-E4 1.000000 799 BUD13:boundary_CDS_coverage:after_E3 1.000000 1535 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C10orf105 ENST00000441508.4 65 0 0 9 0 2 4 C10orf105:single_exon:E2 0.138462 4642 C10orf105:exon_block:E1-E2 0.138462 4794 C10orf105:boundary_CDS_coverage:after_E1 0.138462 399 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C10orf67 ENST00000636213.3 1 0 0 0 1 16 85 C10orf67:single_exon:E7 0.000000 59 C10orf67:exon_block:E7-E8 0.000000 125 C10orf67:boundary_CDS_coverage:after_E15 1.000000 80 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C10orf71 ENST00000374144.8 4 4 0 0 0 3 8 C10orf71:single_exon:E3 1.000000 5091 C10orf71:exon_block:E2-E3 1.000000 5194 C10orf71:boundary_CDS_coverage:after_E1 1.000000 4305 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C11orf65 ENST00000393084.6 1469 0 0 0 0 9 43 C11orf65:single_exon:E4 0.000000 54 C11orf65:exon_block:E3-E4 0.000000 147 C11orf65:boundary_CDS_coverage:after_E8 1.000000 152 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C12orf43 ENST00000288757.7 10 0 0 10 0 6 25 C12orf43:single_exon:E6 1.000000 4004 C12orf43:exon_block:E5-E6 1.000000 4095 C12orf43:boundary_CDS_coverage:after_E5 1.000000 334 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C12orf57 ENST00000229281.6 27 17 7 0 5 3 8 C12orf57:single_exon:E2 0.444444 177 C12orf57:exon_block:E1-E3 0.814815 561 C12orf57:boundary_CDS_coverage:after_E1 0.555556 326 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C12orf60 ENST00000330828.3 3 0 0 0 0 2 4 C12orf60:single_exon:E1 0.000000 82 C12orf60:exon_block:E1-E2 0.000000 1586 C12orf60:boundary_CDS_coverage:after_E1 0.000000 735 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C14orf39 ENST00000321731.8 17 8 3 0 1 18 97 C14orf39:single_exon:E4 0.235294 127 C14orf39:exon_block:E4-E6 0.294118 405 C14orf39:boundary_CDS_coverage:after_E3 0.529412 1655 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C17orf107 ENST00000381365.4 156 0 1 148 0 3 8 C17orf107:single_exon:E3 0.910256 2698 C17orf107:exon_block:E1-E3 0.948718 3201 C17orf107:boundary_CDS_coverage:after_E2 0.955128 294 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C19orf12 ENST00000323670.14 33 29 9 2 2 3 8 C19orf12:single_exon:E3 0.787879 4041 C19orf12:exon_block:E2-E3 1.000000 4211 C19orf12:boundary_CDS_coverage:after_E1 1.000000 423 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1GALT1C1 ENST00000304661.6 8 8 1 0 0 2 4 C1GALT1C1:single_exon:E2 1.000000 1498 C1GALT1C1:exon_block:E1-E2 1.000000 1636 C1GALT1C1:boundary_CDS_coverage:after_E1 1.000000 954 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1QA ENST00000374642.8 12 12 0 0 0 3 8 C1QA:single_exon:E3 0.750000 846 C1QA:exon_block:E2-E3 1.000000 1016 C1QA:boundary_CDS_coverage:after_E1 1.000000 735 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1QB ENST00000509305.6 7 5 3 0 2 3 8 C1QB:single_exon:E3 0.571429 826 C1QB:exon_block:E2-E3 1.000000 1030 C1QB:boundary_CDS_coverage:after_E1 1.000000 753 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1QBP ENST00000225698.8 12 11 2 0 1 6 25 C1QBP:single_exon:E6 0.333333 388 C1QBP:exon_block:E2-E6 0.916667 855 C1QBP:boundary_CDS_coverage:after_E1 0.916667 614 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1QC ENST00000374640.9 2 2 0 0 0 3 8 C1QC:single_exon:E2 0.500000 194 C1QC:exon_block:E2-E3 1.000000 1076 C1QC:boundary_CDS_coverage:after_E1 1.000000 735 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1QTNF5 ENST00000528368.3 70 6 0 0 0 3 8 C1QTNF5:single_exon:E3 0.085714 907 C1QTNF5:exon_block:E2-E3 0.085714 1164 C1QTNF5:boundary_CDS_coverage:after_E2 0.085714 515 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1R ENST00000647956.2 20 20 6 0 0 11 55 C1R:single_exon:E8 0.250000 79 C1R:exon_block:E6-E10 0.850000 580 C1R:boundary_CDS_coverage:after_E1 1.000000 2113 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1RL ENST00000266542.9 1 0 0 0 0 6 25 C1RL:single_exon:E5 0.000000 75 C1RL:exon_block:E4-E5 0.000000 201 C1RL:boundary_CDS_coverage:after_E5 1.000000 770 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1S ENST00000360817.10 37 32 10 0 5 12 61 C1S:single_exon:E12 0.324324 1178 C1S:exon_block:E8-E12 0.594595 1577 C1S:boundary_CDS_coverage:after_E1 1.000000 2064 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1orf105 ENST00000367727.9 7 0 0 0 7 7 31 C1orf105:single_exon:E6 0.000000 65 C1orf105:exon_block:E5-E6 0.000000 133 C1orf105:boundary_CDS_coverage:after_E1 1.000000 528 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1orf122 ENST00000373042.5 2 0 0 2 0 3 8 C1orf122:single_exon:E1 1.000000 650 C1orf122:exon_block:E1-E2 1.000000 852 C1orf122:boundary_CDS_coverage:after_E2 0.000000 93 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C1orf146 ENST00000370375.8 1 1 0 0 0 6 25 C1orf146:single_exon:E4 1.000000 169 C1orf146:exon_block:E4-E5 1.000000 248 C1orf146:boundary_CDS_coverage:after_E3 1.000000 380 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C2 ENST00000299367.10 29 20 13 0 9 18 97 C2:single_exon:E5 0.137931 99 C2:exon_block:E4-E8 0.448276 687 C2:boundary_CDS_coverage:after_E1 0.965517 2210 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C2CD3 ENST00000334126.12 82 65 25 0 17 33 187 C2CD3:single_exon:E12 0.085366 119 C2CD3:exon_block:E12-E16 0.219512 1136 C2CD3:boundary_CDS_coverage:after_E1 0.951220 7004 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C2orf69 ENST00000319974.6 8 8 0 0 0 2 4 C2orf69:single_exon:E1 0.500000 479 C2orf69:exon_block:E1-E2 1.000000 3691 C2orf69:boundary_CDS_coverage:after_E1 0.500000 822 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C3 ENST00000245907.11 76 55 28 0 21 41 235 C3:single_exon:E3 0.065789 166 C3:exon_block:E20-E24 0.223684 714 C3:boundary_CDS_coverage:after_E1 1.000000 4915 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C3AR1 ENST00000307637.5 1 1 0 0 0 2 4 C3AR1:single_exon:E2 1.000000 3352 C3AR1:exon_block:E1-E2 1.000000 3434 C3AR1:boundary_CDS_coverage:after_E1 1.000000 1446 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C3orf52 ENST00000264848.10 4 4 0 0 0 6 25 C3orf52:single_exon:E4 0.500000 71 C3orf52:exon_block:E1-E5 1.000000 668 C3orf52:boundary_CDS_coverage:after_E3 0.750000 255 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C4B ENST00000435363.7 2 1 1 0 1 41 235 C4B:single_exon:E28 0.500000 172 C4B:exon_block:E28-E29 1.000000 405 C4B:boundary_CDS_coverage:after_E28 1.000000 1556 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C5 ENST00000223642.3 54 36 27 0 17 41 235 C5:single_exon:E27 0.074074 96 C5:exon_block:E1-E5 0.203704 613 C5:boundary_CDS_coverage:after_E1 0.944444 4963 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C6 ENST00000337836.10 63 51 16 0 12 18 97 C6:single_exon:E7 0.158730 201 C6:exon_block:E7-E11 0.412698 958 C6:boundary_CDS_coverage:after_E1 1.000000 2802 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C6orf47 ENST00000375911.2 1 0 0 1 0 1 1 C6orf47:single_exon:E1 1.000000 2481 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C6orf89 ENST00000480824.7 1 0 0 0 0 9 43 C6orf89:single_exon:E1 0.000000 77 C6orf89:exon_block:E1-E2 0.000000 177 C6orf89:boundary_CDS_coverage:after_E8 0.000000 92 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C7 ENST00000313164.10 61 41 23 0 20 18 97 C7:single_exon:E8 0.163934 244 C7:exon_block:E5-E9 0.426230 813 C7:boundary_CDS_coverage:after_E1 1.000000 2523 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C8A ENST00000361249.4 27 22 7 0 5 11 55 C8A:single_exon:E5 0.185185 190 C8A:exon_block:E4-E8 0.592593 906 C8A:boundary_CDS_coverage:after_E1 1.000000 1675 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C8B ENST00000371237.9 42 34 9 0 8 12 61 C8B:single_exon:E6 0.142857 198 C8B:exon_block:E3-E7 0.523810 856 C8B:boundary_CDS_coverage:after_E1 0.904762 1681 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true C9 ENST00000263408.5 47 41 10 0 6 11 55 C9:single_exon:E4 0.191489 148 C9:exon_block:E3-E7 0.702128 928 C9:boundary_CDS_coverage:after_E1 0.978723 1600 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CA1 ENST00000523022.6 2 2 0 0 0 8 37 CA1:single_exon:E8 1.000000 1069 CA1:exon_block:E7-E8 1.000000 1225 CA1:boundary_CDS_coverage:after_E7 1.000000 114 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CA12 ENST00000178638.8 5 5 1 0 0 11 55 CA12:single_exon:E4 0.400000 143 CA12:exon_block:E4-E8 0.800000 588 CA12:boundary_CDS_coverage:after_E3 1.000000 776 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CA2 ENST00000285379.10 23 18 6 0 5 7 31 CA2:single_exon:E2 0.304348 198 CA2:exon_block:E2-E6 0.782609 629 CA2:boundary_CDS_coverage:after_E1 0.913043 746 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CA4 ENST00000300900.9 14 7 8 1 6 8 37 CA4:single_exon:E3 0.285714 156 CA4:exon_block:E1-E5 0.785714 575 CA4:boundary_CDS_coverage:after_E1 1.000000 878 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CA5A ENST00000649794.3 9 6 2 0 3 7 31 CA5A:single_exon:E5 0.222222 63 CA5A:exon_block:E3-E6 0.777778 434 CA5A:boundary_CDS_coverage:after_E2 0.888889 575 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CA8 ENST00000317995.5 10 9 3 0 1 9 42 CA8:single_exon:E2 0.300000 192 CA8:exon_block:E1-E4 0.700000 766 CA8:boundary_CDS_coverage:after_E1 1.000000 770 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CABP2 ENST00000294288.5 11 6 7 0 5 7 31 CABP2:single_exon:E6 0.272727 148 CABP2:exon_block:E2-E6 0.818182 595 CABP2:boundary_CDS_coverage:after_E1 1.000000 618 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CABP4 ENST00000325656.7 30 22 9 0 8 6 25 CABP4:single_exon:E1 0.400000 436 CABP4:exon_block:E1-E5 0.900000 869 CABP4:boundary_CDS_coverage:after_E1 0.633333 459 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1A ENST00000360228.11 554 464 134 0 90 47 271 CACNA1A:single_exon:E19 0.124549 810 CACNA1A:exon_block:E16-E20 0.229242 1567 CACNA1A:boundary_CDS_coverage:after_E1 0.969314 7225 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1B ENST00000371372.6 54 42 18 0 12 47 271 CACNA1B:single_exon:E19 0.148148 801 CACNA1B:exon_block:E17-E21 0.259259 1321 CACNA1B:boundary_CDS_coverage:after_E2 0.962963 6627 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1C ENST00000399655.6 97 83 19 0 14 47 271 CACNA1C:single_exon:E33 0.061856 66 CACNA1C:exon_block:E4-E8 0.195876 740 CACNA1C:boundary_CDS_coverage:after_E1 0.989691 6365 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1D ENST00000350061.11 21 17 4 0 4 48 277 CACNA1D:single_exon:E16 0.333333 115 CACNA1D:exon_block:E12-E16 0.476190 831 CACNA1D:boundary_CDS_coverage:after_E4 1.000000 5860 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1E ENST00000367573.7 33 33 4 0 0 48 277 CACNA1E:single_exon:E17 0.242424 68 CACNA1E:exon_block:E13-E17 0.363636 504 CACNA1E:boundary_CDS_coverage:after_E2 1.000000 6567 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1F ENST00000323022.10 189 135 68 0 54 48 277 CACNA1F:single_exon:E9 0.047619 158 CACNA1F:exon_block:E5-E9 0.174603 755 CACNA1F:boundary_CDS_coverage:after_E1 1.000000 5873 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1G ENST00000359106.10 29 29 4 0 0 38 217 CACNA1G:single_exon:E25 0.206897 193 CACNA1G:exon_block:E25-E29 0.310345 643 CACNA1G:boundary_CDS_coverage:after_E1 1.000000 6889 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1H ENST00000348261.11 8 8 0 0 0 35 199 CACNA1H:single_exon:E25 0.250000 193 CACNA1H:exon_block:E6-E9 0.375000 1359 CACNA1H:boundary_CDS_coverage:after_E5 1.000000 6416 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1I ENST00000402142.4 6 5 1 0 1 37 211 CACNA1I:single_exon:E14 0.333333 156 CACNA1I:exon_block:E11-E14 0.500000 612 CACNA1I:boundary_CDS_coverage:after_E10 1.000000 4677 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA1S ENST00000362061.4 126 102 35 0 24 44 253 CACNA1S:single_exon:E33 0.079365 160 CACNA1S:exon_block:E30-E34 0.190476 575 CACNA1S:boundary_CDS_coverage:after_E1 0.968254 5467 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA2D1 ENST00000356860.8 4 3 0 0 1 39 223 CACNA2D1:single_exon:E10 0.250000 100 CACNA2D1:exon_block:E7-E10 0.500000 353 CACNA2D1:boundary_CDS_coverage:after_E4 0.750000 2919 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA2D2 ENST00000424201.7 80 57 39 0 23 38 217 CACNA2D2:single_exon:E1 0.087500 417 CACNA2D2:exon_block:E11-E15 0.187500 486 CACNA2D2:boundary_CDS_coverage:after_E1 0.925000 3223 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNA2D4 ENST00000382722.10 4 3 1 0 1 38 217 CACNA2D4:single_exon:E31 0.250000 76 CACNA2D4:exon_block:E31-E32 0.250000 129 CACNA2D4:boundary_CDS_coverage:after_E15 0.750000 1767 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNB1 ENST00000394303.8 2 1 1 0 1 14 73 CACNB1:single_exon:E2 1.000000 87 CACNB1:exon_block:E2-E3 1.000000 207 CACNB1:boundary_CDS_coverage:after_E1 1.000000 1710 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNB2 ENST00000324631.13 2 0 0 0 2 14 73 CACNB2:single_exon:E9 0.000000 59 CACNB2:exon_block:E8-E9 0.000000 140 CACNB2:boundary_CDS_coverage:after_E2 1.000000 1767 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNB4 ENST00000539935.7 3 3 2 0 0 14 73 CACNB4:single_exon:E7 0.666667 20 CACNB4:exon_block:E3-E7 1.000000 471 CACNB4:boundary_CDS_coverage:after_E2 1.000000 1413 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACNG7 ENST00000391767.6 1 1 0 0 0 6 25 CACNG7:single_exon:E6 1.000000 1915 CACNG7:exon_block:E5-E6 1.000000 2061 CACNG7:boundary_CDS_coverage:after_E5 1.000000 255 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CACUL1 ENST00000369151.8 1 1 0 0 0 9 43 CACUL1:single_exon:E7 1.000000 139 CACUL1:exon_block:E7-E8 1.000000 183 CACUL1:boundary_CDS_coverage:after_E6 1.000000 221 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAD ENST00000264705.9 95 73 36 0 22 44 253 CAD:single_exon:E27 0.073684 82 CAD:exon_block:E13-E17 0.210526 803 CAD:boundary_CDS_coverage:after_E1 0.989474 6593 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CADM3 ENST00000368125.9 1 1 0 0 0 9 43 CADM3:single_exon:E4 1.000000 138 CADM3:exon_block:E3-E4 1.000000 291 CADM3:boundary_CDS_coverage:after_E3 1.000000 812 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CALCRL ENST00000392370.8 1 1 1 0 0 15 79 CALCRL:single_exon:E9 1.000000 127 CALCRL:exon_block:E8-E9 1.000000 219 CALCRL:boundary_CDS_coverage:after_E8 1.000000 883 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CALHM1 ENST00000329905.6 1 1 0 0 0 2 4 CALHM1:single_exon:E1 1.000000 704 CALHM1:exon_block:E1-E2 1.000000 3212 CALHM1:boundary_CDS_coverage:after_E1 0.000000 483 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CALM1 ENST00000356978.9 20 20 8 0 0 6 25 CALM1:single_exon:E5 0.550000 136 CALM1:exon_block:E3-E6 1.000000 3967 CALM1:boundary_CDS_coverage:after_E2 1.000000 413 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CALM2 ENST00000272298.12 19 19 6 0 0 6 25 CALM2:single_exon:E5 0.842105 136 CALM2:exon_block:E4-E6 1.000000 964 CALM2:boundary_CDS_coverage:after_E3 1.000000 269 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CALM3 ENST00000291295.14 8 8 5 0 0 6 25 CALM3:single_exon:E5 0.625000 136 CALM3:exon_block:E4-E6 1.000000 1901 CALM3:boundary_CDS_coverage:after_E3 1.000000 269 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CALR ENST00000316448.10 2 2 0 0 0 9 43 CALR:single_exon:E9 1.000000 777 CALR:exon_block:E8-E9 1.000000 870 CALR:boundary_CDS_coverage:after_E8 1.000000 198 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CALU ENST00000249364.9 1 1 0 0 0 7 31 CALU:single_exon:E6 1.000000 200 CALU:exon_block:E5-E6 1.000000 261 CALU:boundary_CDS_coverage:after_E5 1.000000 302 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAMK1D ENST00000619168.5 1 1 1 0 0 11 55 CAMK1D:single_exon:E5 1.000000 127 CAMK1D:exon_block:E5-E6 1.000000 203 CAMK1D:boundary_CDS_coverage:after_E4 1.000000 717 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAMK2A ENST00000671881.1 29 27 10 0 2 19 103 CAMK2A:single_exon:E11 0.172414 84 CAMK2A:exon_block:E8-E12 0.586207 429 CAMK2A:boundary_CDS_coverage:after_E1 0.931034 1405 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAMK2B ENST00000395749.7 17 12 9 0 5 24 132 CAMK2B:single_exon:E11 0.411765 84 CAMK2B:exon_block:E7-E11 0.764706 489 CAMK2B:boundary_CDS_coverage:after_E1 1.000000 1933 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAMK2D ENST00000511664.6 9 8 4 0 1 21 114 CAMK2D:single_exon:E11 0.444444 84 CAMK2D:exon_block:E7-E11 0.666667 489 CAMK2D:boundary_CDS_coverage:after_E3 1.000000 1379 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAMK2G ENST00000423381.6 6 6 0 0 0 23 126 CAMK2G:single_exon:E11 0.333333 84 CAMK2G:exon_block:E9-E13 0.666667 408 CAMK2G:boundary_CDS_coverage:after_E2 1.000000 1604 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAMK4 ENST00000282356.9 2 1 1 0 1 11 55 CAMK4:single_exon:E10 1.000000 153 CAMK4:exon_block:E9-E10 1.000000 280 CAMK4:boundary_CDS_coverage:after_E9 1.000000 591 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAMSAP1 ENST00000389532.9 5 5 0 0 0 17 91 CAMSAP1:single_exon:E11 0.800000 2422 CAMSAP1:exon_block:E11-E14 1.000000 2871 CAMSAP1:boundary_CDS_coverage:after_E10 1.000000 3406 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAMTA1 ENST00000303635.12 97 85 21 0 12 23 127 CAMTA1:single_exon:E9 0.298969 1847 CAMTA1:exon_block:E5-E9 0.484536 2350 CAMTA1:boundary_CDS_coverage:after_E2 1.000000 4904 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CANT1 ENST00000392446.10 48 46 3 0 2 5 19 CANT1:single_exon:E3 0.500000 653 CANT1:exon_block:E1-E5 1.000000 3287 CANT1:boundary_CDS_coverage:after_E1 1.000000 1203 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAP2 ENST00000229922.7 3 2 1 0 1 13 67 CAP2:single_exon:E7 0.333333 106 CAP2:exon_block:E7-E9 0.666667 472 CAP2:boundary_CDS_coverage:after_E7 1.000000 795 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPN1 ENST00000279247.11 50 37 22 0 13 22 121 CAPN1:single_exon:E10 0.160000 161 CAPN1:exon_block:E6-E10 0.460000 575 CAPN1:boundary_CDS_coverage:after_E1 1.000000 2142 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPN10 ENST00000391984.7 4 3 2 0 1 12 61 CAPN10:single_exon:E6 0.500000 167 CAPN10:exon_block:E6-E7 0.750000 448 CAPN10:boundary_CDS_coverage:after_E5 1.000000 1186 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPN15 ENST00000219611.7 7 7 3 0 0 14 73 CAPN15:single_exon:E13 0.285714 179 CAPN15:exon_block:E10-E13 0.571429 738 CAPN15:boundary_CDS_coverage:after_E1 1.000000 3258 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPN3 ENST00000397163.8 509 401 190 1 107 24 133 CAPN3:single_exon:E5 0.092338 169 CAPN3:exon_block:E1-E5 0.300589 1106 CAPN3:boundary_CDS_coverage:after_E1 0.919450 2154 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPN5 ENST00000648180.1 4 4 0 0 0 13 67 CAPN5:single_exon:E6 1.000000 194 CAPN5:exon_block:E6-E7 1.000000 272 CAPN5:boundary_CDS_coverage:after_E5 1.000000 1221 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPN6 ENST00000324068.2 2 2 0 0 0 13 67 CAPN6:single_exon:E8 0.500000 187 CAPN6:exon_block:E6-E8 1.000000 459 CAPN6:boundary_CDS_coverage:after_E5 1.000000 1224 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPNS1 ENST00000246533.8 2 0 2 0 2 11 55 CAPNS1:single_exon:E3 0.500000 34 CAPNS1:exon_block:E3-E4 0.500000 124 CAPNS1:boundary_CDS_coverage:after_E2 1.000000 595 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPRIN1 ENST00000341394.9 26 25 8 0 1 19 103 CAPRIN1:single_exon:E15 0.269231 151 CAPRIN1:exon_block:E13-E16 0.423077 607 CAPRIN1:boundary_CDS_coverage:after_E1 1.000000 2127 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAPZA2 ENST00000361183.8 2 2 0 0 0 10 49 CAPZA2:single_exon:E10 1.000000 4323 CAPZA2:exon_block:E9-E10 1.000000 4386 CAPZA2:boundary_CDS_coverage:after_E9 1.000000 138 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARD10 ENST00000251973.10 1 1 0 0 0 20 109 CARD10:single_exon:E7 1.000000 192 CARD10:exon_block:E6-E7 1.000000 318 CARD10:boundary_CDS_coverage:after_E6 1.000000 1905 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARD11 ENST00000396946.9 45 32 21 0 13 25 139 CARD11:single_exon:E3 0.177778 213 CARD11:exon_block:E2-E6 0.533333 989 CARD11:boundary_CDS_coverage:after_E2 1.000000 3455 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARD14 ENST00000648509.2 16 12 6 0 3 24 133 CARD14:single_exon:E7 0.687500 326 CARD14:exon_block:E6-E7 0.937500 464 CARD14:boundary_CDS_coverage:after_E6 1.000000 2663 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARD8 ENST00000651546.1 1 1 0 0 0 14 73 CARD8:single_exon:E5 1.000000 150 CARD8:exon_block:E4-E5 1.000000 252 CARD8:boundary_CDS_coverage:after_E4 1.000000 1552 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARD9 ENST00000371732.10 23 18 8 0 5 13 67 CARD9:single_exon:E10 0.173913 46 CARD9:exon_block:E3-E7 0.608696 893 CARD9:boundary_CDS_coverage:after_E1 1.000000 1608 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARMIL2 ENST00000334583.11 81 62 28 0 19 38 217 CARMIL2:single_exon:E14 0.148148 263 CARMIL2:exon_block:E11-E15 0.333333 663 CARMIL2:boundary_CDS_coverage:after_E1 0.987654 4265 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARNMT1 ENST00000376834.8 1 1 1 0 0 8 37 CARNMT1:single_exon:E1 1.000000 282 CARNMT1:exon_block:E1-E2 1.000000 478 CARNMT1:boundary_CDS_coverage:after_E1 1.000000 997 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARS1 ENST00000380525.9 7 7 3 0 0 23 127 CARS1:single_exon:E12 0.428571 129 CARS1:exon_block:E12-E13 0.571429 259 CARS1:boundary_CDS_coverage:after_E1 1.000000 2468 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CARS2 ENST00000257347.9 4 4 2 0 0 15 79 CARS2:single_exon:E6 0.250000 84 CARS2:exon_block:E12-E14 0.750000 430 CARS2:boundary_CDS_coverage:after_E6 1.000000 1037 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASD1 ENST00000297273.9 153 0 0 0 0 18 97 CASD1:single_exon:E4 0.000000 45 CASD1:exon_block:E4-E5 0.000000 108 CASD1:boundary_CDS_coverage:after_E17 1.000000 264 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASK ENST00000378163.7 190 142 75 0 48 27 151 CASK:single_exon:E7 0.084211 176 CASK:exon_block:E21-E25 0.278947 678 CASK:boundary_CDS_coverage:after_E1 0.957895 2719 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASP10 ENST00000286186.11 5 5 0 0 0 10 49 CASP10:single_exon:E9 0.400000 493 CASP10:exon_block:E7-E10 0.800000 4772 CASP10:boundary_CDS_coverage:after_E1 1.000000 1566 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASP2 ENST00000310447.10 5 4 1 0 1 11 55 CASP2:single_exon:E10 0.400000 110 CASP2:exon_block:E7-E10 0.600000 480 CASP2:boundary_CDS_coverage:after_E1 1.000000 1282 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASP8 ENST00000673742.1 22 13 4 0 9 9 43 CASP8:single_exon:E8 0.272727 502 CASP8:exon_block:E4-E8 0.500000 893 CASP8:boundary_CDS_coverage:after_E1 1.000000 1437 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASQ1 ENST00000368078.8 5 4 2 0 1 11 55 CASQ1:single_exon:E7 0.200000 46 CASQ1:exon_block:E6-E9 0.600000 333 CASQ1:boundary_CDS_coverage:after_E5 0.800000 537 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASQ2 ENST00000261448.6 79 53 36 0 26 11 55 CASQ2:single_exon:E1 0.215190 407 CASQ2:exon_block:E1-E5 0.582278 779 CASQ2:boundary_CDS_coverage:after_E1 0.784810 963 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASR ENST00000639785.2 313 290 34 0 23 7 31 CASR:single_exon:E7 0.383387 7943 CASR:exon_block:E3-E7 0.907348 9490 CASR:boundary_CDS_coverage:after_E1 1.000000 3234 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAST ENST00000675179.1 51 11 6 0 2 32 180 CAST:single_exon:E25 0.039216 99 CAST:exon_block:E8-E11 0.098039 363 CAST:boundary_CDS_coverage:after_E4 0.254902 2103 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CASZ1 ENST00000377022.8 7 7 1 0 0 21 115 CASZ1:single_exon:E11 0.571429 842 CASZ1:exon_block:E11-E14 0.714286 1197 CASZ1:boundary_CDS_coverage:after_E4 1.000000 5261 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAT ENST00000241052.5 4 2 3 0 2 13 67 CAT:single_exon:E4 0.500000 131 CAT:exon_block:E2-E4 0.750000 414 CAT:boundary_CDS_coverage:after_E1 1.000000 1515 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CATIP ENST00000289388.4 1 1 0 0 0 10 49 CATIP:single_exon:E2 1.000000 93 CATIP:exon_block:E1-E2 1.000000 146 CATIP:boundary_CDS_coverage:after_E1 1.000000 1136 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CATSPER1 ENST00000312106.6 3 3 0 0 0 12 61 CATSPER1:single_exon:E1 1.000000 1316 CATSPER1:exon_block:E1-E2 1.000000 1529 CATSPER1:boundary_CDS_coverage:after_E11 0.000000 24 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CATSPERB ENST00000256343.8 1 1 0 0 0 27 151 CATSPERB:single_exon:E19 1.000000 330 CATSPERB:exon_block:E19-E20 1.000000 470 CATSPERB:boundary_CDS_coverage:after_E18 1.000000 1418 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAV1 ENST00000341049.7 12 12 0 0 0 3 8 CAV1:single_exon:E3 0.916667 2234 CAV1:exon_block:E2-E3 1.000000 2399 CAV1:boundary_CDS_coverage:after_E1 1.000000 504 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAV3 ENST00000343849.3 26 25 1 0 1 2 4 CAV3:single_exon:E2 0.615385 1233 CAV3:exon_block:E1-E2 1.000000 1422 CAV3:boundary_CDS_coverage:after_E1 0.653846 339 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CAVIN1 ENST00000357037.6 16 15 4 0 1 2 4 CAVIN1:single_exon:E1 0.562500 630 CAVIN1:exon_block:E1-E2 1.000000 3570 CAVIN1:boundary_CDS_coverage:after_E1 0.500000 699 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CBFB ENST00000412916.7 2 0 1 0 2 6 25 CBFB:single_exon:E1 0.500000 337 CBFB:exon_block:E1-E2 0.500000 424 CBFB:boundary_CDS_coverage:after_E1 1.000000 483 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CBL ENST00000264033.6 34 25 16 0 9 16 85 CBL:single_exon:E8 0.735294 132 CBL:exon_block:E6-E10 0.941176 694 CBL:boundary_CDS_coverage:after_E1 1.000000 2523 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CBLB ENST00000394030.8 3 3 1 0 0 19 103 CBLB:single_exon:E10 0.666667 204 CBLB:exon_block:E6-E10 1.000000 684 CBLB:boundary_CDS_coverage:after_E5 1.000000 2223 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CBLIF ENST00000257248.3 15 12 4 0 3 9 43 CBLIF:single_exon:E2 0.266667 177 CBLIF:exon_block:E1-E5 0.933333 739 CBLIF:boundary_CDS_coverage:after_E1 0.866667 1172 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CBS ENST00000398165.8 280 219 118 0 61 17 91 CBS:single_exon:E5 0.128571 135 CBS:exon_block:E3-E7 0.403571 674 CBS:boundary_CDS_coverage:after_E1 1.000000 1653 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CBX2 ENST00000310942.9 2 2 1 0 0 5 19 CBX2:single_exon:E5 1.000000 4252 CBX2:exon_block:E4-E5 1.000000 4358 CBX2:boundary_CDS_coverage:after_E4 1.000000 1308 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CBY1 ENST00000216029.8 2 2 1 0 0 5 19 CBY1:single_exon:E2 0.500000 116 CBY1:exon_block:E2-E4 1.000000 341 CBY1:boundary_CDS_coverage:after_E1 1.000000 378 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CC2D1A ENST00000318003.11 64 38 31 0 26 29 163 CC2D1A:single_exon:E4 0.062500 66 CC2D1A:exon_block:E9-E13 0.250000 522 CC2D1A:boundary_CDS_coverage:after_E1 0.984375 2793 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CC2D2A ENST00000424120.6 328 258 105 0 70 37 211 CC2D2A:single_exon:E36 0.067073 178 CC2D2A:exon_block:E26-E30 0.185976 687 CC2D2A:boundary_CDS_coverage:after_E1 1.000000 4860 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCBE1 ENST00000439986.9 18 14 7 0 4 11 55 CCBE1:single_exon:E4 0.333333 135 CCBE1:exon_block:E1-E5 0.722222 634 CCBE1:boundary_CDS_coverage:after_E2 0.888889 1006 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC107 ENST00000426546.7 1 0 0 0 0 5 19 CCDC107:single_exon:E3 0.000000 61 CCDC107:exon_block:E3-E4 0.000000 152 CCDC107:boundary_CDS_coverage:after_E4 0.000000 439 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC134 ENST00000255784.6 1 1 0 0 0 7 31 CCDC134:single_exon:E2 1.000000 119 CCDC134:exon_block:E1-E2 1.000000 207 CCDC134:boundary_CDS_coverage:after_E1 1.000000 687 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC146 ENST00000285871.5 3 3 0 0 0 19 103 CCDC146:single_exon:E9 0.666667 187 CCDC146:exon_block:E9-E10 0.666667 283 CCDC146:boundary_CDS_coverage:after_E8 1.000000 1879 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC174 ENST00000383794.7 1 0 0 1 0 11 55 CCDC174:single_exon:E11 1.000000 1760 CCDC174:exon_block:E10-E11 1.000000 1913 CCDC174:boundary_CDS_coverage:after_E10 1.000000 296 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC183 ENST00000338005.7 2 2 0 0 0 14 73 CCDC183:single_exon:E9 0.500000 101 CCDC183:exon_block:E9-E10 1.000000 262 CCDC183:boundary_CDS_coverage:after_E8 1.000000 755 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC186 ENST00000369287.8 1 1 1 0 0 16 85 CCDC186:single_exon:E4 1.000000 129 CCDC186:exon_block:E3-E4 1.000000 256 CCDC186:boundary_CDS_coverage:after_E3 1.000000 1935 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC22 ENST00000376227.4 3 3 1 0 0 17 91 CCDC22:single_exon:E15 0.333333 60 CCDC22:exon_block:E11-E15 0.666667 483 CCDC22:boundary_CDS_coverage:after_E10 0.666667 669 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC30 ENST00000657597.2 4 0 0 0 1 21 115 CCDC30:single_exon:E20 0.000000 68 CCDC30:exon_block:E4-E5 0.000000 188 CCDC30:boundary_CDS_coverage:after_E1 0.250000 2814 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC32 ENST00000416810.7 2 2 0 0 0 4 13 CCDC32:single_exon:E2 1.000000 256 CCDC32:exon_block:E1-E2 1.000000 323 CCDC32:boundary_CDS_coverage:after_E1 1.000000 555 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC33 ENST00000398814.8 1 0 0 0 0 19 103 CCDC33:single_exon:E10 0.000000 72 CCDC33:exon_block:E17-E18 0.000000 201 CCDC33:boundary_CDS_coverage:after_E18 0.000000 126 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC34 ENST00000328697.11 2 2 0 0 0 6 25 CCDC34:single_exon:E5 0.500000 142 CCDC34:exon_block:E4-E5 1.000000 301 CCDC34:boundary_CDS_coverage:after_E3 1.000000 513 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC39 ENST00000476379.6 171 139 45 0 32 20 109 CCDC39:single_exon:E13 0.116959 209 CCDC39:exon_block:E9-E13 0.362573 840 CCDC39:boundary_CDS_coverage:after_E1 0.988304 2733 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC40 ENST00000397545.9 111 83 34 0 27 20 109 CCDC40:single_exon:E3 0.099099 459 CCDC40:exon_block:E3-E7 0.288288 1066 CCDC40:boundary_CDS_coverage:after_E1 1.000000 3397 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC47 ENST00000225726.10 7 7 0 0 0 13 67 CCDC47:single_exon:E11 0.428571 110 CCDC47:exon_block:E11-E12 0.571429 278 CCDC47:boundary_CDS_coverage:after_E4 1.000000 902 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC50 ENST00000392455.9 2 2 0 0 0 12 61 CCDC50:single_exon:E11 0.500000 107 CCDC50:exon_block:E10-E11 0.500000 187 CCDC50:boundary_CDS_coverage:after_E5 1.000000 998 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC62 ENST00000253079.11 1 1 0 0 0 13 66 CCDC62:single_exon:E4 1.000000 102 CCDC62:exon_block:E3-E4 1.000000 269 CCDC62:boundary_CDS_coverage:after_E3 1.000000 1656 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC68 ENST00000591504.6 1 1 0 0 0 12 61 CCDC68:single_exon:E9 1.000000 106 CCDC68:exon_block:E8-E9 1.000000 189 CCDC68:boundary_CDS_coverage:after_E8 1.000000 322 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC8 ENST00000307522.5 10 10 0 0 0 1 1 CCDC8:single_exon:E1 1.000000 3236 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC82 ENST00000646818.2 3 3 0 0 0 10 49 CCDC82:single_exon:E4 1.000000 800 CCDC82:exon_block:E3-E4 1.000000 840 CCDC82:boundary_CDS_coverage:after_E1 1.000000 1632 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC88A ENST00000436346.7 36 31 8 0 5 33 186 CCDC88A:single_exon:E15 0.277778 1071 CCDC88A:exon_block:E11-E15 0.444444 1686 CCDC88A:boundary_CDS_coverage:after_E3 1.000000 5340 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCDC88C ENST00000389857.11 113 88 33 0 25 30 169 CCDC88C:single_exon:E30 0.203540 2331 CCDC88C:exon_block:E26-E30 0.292035 2948 CCDC88C:boundary_CDS_coverage:after_E1 0.991150 6024 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCIN ENST00000335119.4 5 5 0 0 0 1 1 CCIN:single_exon:E1 1.000000 1947 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCKBR ENST00000334619.7 1 1 0 0 0 5 19 CCKBR:single_exon:E4 1.000000 158 CCKBR:exon_block:E3-E4 1.000000 408 CCKBR:boundary_CDS_coverage:after_E3 1.000000 688 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCL5 ENST00000605140.6 1 0 0 0 1 3 8 CCL5:single_exon:E2 0.000000 112 CCL5:exon_block:E1-E2 0.000000 243 CCL5:boundary_CDS_coverage:after_E1 1.000000 197 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCM2 ENST00000258781.11 110 86 36 0 24 10 49 CCM2:single_exon:E2 0.263636 174 CCM2:exon_block:E2-E6 0.818182 715 CCM2:boundary_CDS_coverage:after_E1 0.972727 1302 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCN2 ENST00000367976.4 3 3 1 0 0 5 19 CCN2:single_exon:E3 0.333333 252 CCN2:exon_block:E1-E5 1.000000 2338 CCN2:boundary_CDS_coverage:after_E2 0.666667 758 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCN6 ENST00000368666.7 69 63 12 0 6 5 19 CCN6:single_exon:E4 0.318841 194 CCN6:exon_block:E1-E5 0.985507 1385 CCN6:boundary_CDS_coverage:after_E1 0.913043 1014 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCNB3 ENST00000376042.6 1 1 0 0 0 13 67 CCNB3:single_exon:E10 1.000000 156 CCNB3:exon_block:E9-E10 1.000000 294 CCNB3:boundary_CDS_coverage:after_E9 1.000000 531 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCND2 ENST00000261254.8 17 17 1 0 0 5 19 CCND2:single_exon:E5 0.882353 5494 CCND2:exon_block:E3-E5 1.000000 5803 CCND2:boundary_CDS_coverage:after_E2 1.000000 456 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCNF ENST00000397066.9 3 3 0 0 0 17 91 CCNF:single_exon:E16 0.666667 170 CCNF:exon_block:E15-E16 0.666667 298 CCNF:boundary_CDS_coverage:after_E10 1.000000 1264 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCNH ENST00000256897.9 255 0 0 0 0 9 43 CCNH:single_exon:E8 0.000000 61 CCNH:exon_block:E7-E8 0.000000 173 CCNH:boundary_CDS_coverage:after_E8 1.000000 36 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCNK ENST00000389879.9 1 1 0 0 0 11 55 CCNK:single_exon:E4 1.000000 132 CCNK:exon_block:E3-E4 1.000000 214 CCNK:boundary_CDS_coverage:after_E3 1.000000 1461 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCNO ENST00000282572.5 37 35 4 0 2 3 8 CCNO:single_exon:E1 0.378378 466 CCNO:exon_block:E1-E3 1.000000 1361 CCNO:boundary_CDS_coverage:after_E1 0.621622 669 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCNQ ENST00000576892.8 7 4 5 0 2 5 19 CCNQ:single_exon:E4 0.571429 228 CCNQ:exon_block:E3-E5 0.857143 891 CCNQ:boundary_CDS_coverage:after_E2 1.000000 448 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCP110 ENST00000694978.1 2 2 0 0 0 14 73 CCP110:single_exon:E4 1.000000 1648 CCP110:exon_block:E3-E4 1.000000 1777 CCP110:boundary_CDS_coverage:after_E3 1.000000 2703 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCPG1 ENST00000442196.8 1 0 0 1 0 9 43 CCPG1:single_exon:E9 1.000000 1171 CCPG1:exon_block:E8-E9 1.000000 2577 CCPG1:boundary_CDS_coverage:after_E8 1.000000 187 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCR2 ENST00000445132.3 5 5 0 0 0 2 4 CCR2:single_exon:E2 1.000000 3464 CCR2:exon_block:E1-E2 1.000000 3531 CCR2:boundary_CDS_coverage:after_E1 1.000000 1080 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCT3 ENST00000295688.8 2 2 0 0 0 14 73 CCT3:single_exon:E9 0.500000 133 CCT3:exon_block:E9-E12 1.000000 642 CCT3:boundary_CDS_coverage:after_E8 1.000000 876 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCT5 ENST00000280326.9 1 1 0 0 0 11 55 CCT5:single_exon:E5 1.000000 193 CCT5:exon_block:E5-E6 1.000000 343 CCT5:boundary_CDS_coverage:after_E4 1.000000 1093 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CCT7 ENST00000258091.10 1 1 0 0 0 12 61 CCT7:single_exon:E12 1.000000 366 CCT7:exon_block:E11-E12 1.000000 573 CCT7:boundary_CDS_coverage:after_E11 1.000000 219 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD151 ENST00000397420.9 6 4 3 0 2 9 43 CD151:single_exon:E4 0.333333 192 CD151:exon_block:E3-E6 0.833333 463 CD151:boundary_CDS_coverage:after_E1 1.000000 759 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD19 ENST00000538922.8 14 9 6 0 5 15 78 CD19:single_exon:E2 0.357143 267 CD19:exon_block:E2-E6 0.571429 907 CD19:boundary_CDS_coverage:after_E1 1.000000 1580 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD247 ENST00000362089.10 8 8 5 0 0 8 37 CD247:single_exon:E3 0.500000 57 CD247:exon_block:E1-E5 1.000000 400 CD247:boundary_CDS_coverage:after_E2 0.750000 330 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD27 ENST00000266557.4 17 15 4 0 2 6 25 CD27:single_exon:E2 0.352941 132 CD27:exon_block:E1-E4 0.941176 679 CD27:boundary_CDS_coverage:after_E1 0.882353 644 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD28 ENST00000324106.9 1 1 1 0 0 4 13 CD28:single_exon:E1 1.000000 110 CD28:exon_block:E1-E2 1.000000 467 CD28:boundary_CDS_coverage:after_E1 1.000000 608 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD2AP ENST00000359314.5 17 14 4 0 3 18 97 CD2AP:single_exon:E3 0.176471 154 CD2AP:exon_block:E3-E7 0.470588 643 CD2AP:boundary_CDS_coverage:after_E1 1.000000 1913 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD36 ENST00000447544.7 51 35 18 0 16 15 78 CD36:single_exon:E13 0.176471 55 CD36:exon_block:E9-E13 0.529412 506 CD36:boundary_CDS_coverage:after_E1 1.000000 1416 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD3D ENST00000300692.9 17 11 9 0 6 5 19 CD3D:single_exon:E2 0.411765 219 CD3D:exon_block:E1-E4 1.000000 548 CD3D:boundary_CDS_coverage:after_E1 0.705882 458 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD3E ENST00000361763.9 21 12 9 0 9 9 43 CD3E:single_exon:E6 0.380952 249 CD3E:exon_block:E4-E7 0.904762 450 CD3E:boundary_CDS_coverage:after_E2 1.000000 572 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD3G ENST00000532917.3 21 15 7 0 6 7 30 CD3G:single_exon:E3 0.380952 228 CD3G:exon_block:E1-E4 0.857143 519 CD3G:boundary_CDS_coverage:after_E1 0.809524 491 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD4 ENST00000011653.9 2 1 1 0 1 10 49 CD4:single_exon:E2 0.500000 116 CD4:exon_block:E8-E9 0.500000 190 CD4:boundary_CDS_coverage:after_E1 1.000000 1374 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD40 ENST00000372285.8 15 11 6 1 3 9 43 CD40:single_exon:E5 0.266667 94 CD40:exon_block:E1-E5 0.866667 527 CD40:boundary_CDS_coverage:after_E1 0.866667 780 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD40LG ENST00000370629.7 102 86 31 0 16 5 19 CD40LG:single_exon:E5 0.519608 1352 CD40LG:exon_block:E1-E5 1.000000 1852 CD40LG:boundary_CDS_coverage:after_E1 0.911765 627 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD46 ENST00000367042.6 69 45 29 0 24 13 66 CD46:single_exon:E6 0.188406 183 CD46:exon_block:E2-E6 0.768116 759 CD46:boundary_CDS_coverage:after_E1 0.971014 1034 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD55 ENST00000367064.9 28 20 12 0 8 10 49 CD55:single_exon:E2 0.464286 186 CD55:exon_block:E2-E6 0.892857 753 CD55:boundary_CDS_coverage:after_E1 0.928571 1043 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD59 ENST00000642928.2 10 10 0 0 0 4 13 CD59:single_exon:E4 0.500000 7334 CD59:exon_block:E2-E4 1.000000 7521 CD59:boundary_CDS_coverage:after_E1 1.000000 384 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD63 ENST00000257857.9 25 0 0 0 0 8 37 CD63:single_exon:E1 0.000000 57 CD63:exon_block:E1-E2 0.000000 134 CD63:boundary_CDS_coverage:after_E7 1.000000 63 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD70 ENST00000245903.4 3 3 0 0 0 3 8 CD70:single_exon:E3 1.000000 567 CD70:exon_block:E2-E3 1.000000 601 CD70:boundary_CDS_coverage:after_E2 1.000000 383 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD79A ENST00000221972.8 8 4 4 0 4 5 19 CD79A:single_exon:E2 0.500000 300 CD79A:exon_block:E1-E4 1.000000 593 CD79A:boundary_CDS_coverage:after_E1 0.875000 599 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD79B ENST00000006750.8 4 3 2 0 1 6 25 CD79B:single_exon:E3 0.500000 312 CD79B:exon_block:E3-E5 1.000000 473 CD79B:boundary_CDS_coverage:after_E2 1.000000 569 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD8A ENST00000283635.8 1 1 0 0 0 6 25 CD8A:single_exon:E2 1.000000 354 CD8A:exon_block:E2-E3 1.000000 465 CD8A:boundary_CDS_coverage:after_E1 1.000000 656 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CD96 ENST00000352690.9 5 3 3 0 2 14 73 CD96:single_exon:E5 0.400000 56 CD96:exon_block:E3-E5 0.600000 389 CD96:boundary_CDS_coverage:after_E2 1.000000 1289 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDAN1 ENST00000356231.4 63 54 15 0 9 28 157 CDAN1:single_exon:E2 0.126984 479 CDAN1:exon_block:E20-E24 0.301587 559 CDAN1:boundary_CDS_coverage:after_E1 1.000000 3591 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC14A ENST00000336454.5 20 16 6 0 4 16 85 CDC14A:single_exon:E10 0.250000 139 CDC14A:exon_block:E8-E11 0.650000 618 CDC14A:boundary_CDS_coverage:after_E1 0.950000 1733 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC20 ENST00000310955.11 11 9 2 0 2 11 55 CDC20:single_exon:E7 0.181818 95 CDC20:exon_block:E5-E9 0.909091 776 CDC20:boundary_CDS_coverage:after_E3 1.000000 1167 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC25A ENST00000302506.8 1 1 0 0 0 15 79 CDC25A:single_exon:E3 1.000000 43 CDC25A:exon_block:E3-E4 1.000000 80 CDC25A:boundary_CDS_coverage:after_E2 1.000000 1325 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC27 ENST00000066544.8 1 1 0 0 0 19 103 CDC27:single_exon:E14 1.000000 209 CDC27:exon_block:E14-E15 1.000000 327 CDC27:boundary_CDS_coverage:after_E13 1.000000 768 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC40 ENST00000307731.2 1 1 0 0 0 15 79 CDC40:single_exon:E14 1.000000 145 CDC40:exon_block:E13-E14 1.000000 222 CDC40:boundary_CDS_coverage:after_E13 1.000000 320 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC42 ENST00000656825.1 22 22 2 0 0 6 25 CDC42:single_exon:E4 0.318182 110 CDC42:exon_block:E2-E6 1.000000 10469 CDC42:boundary_CDS_coverage:after_E1 1.000000 573 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC42BPB ENST00000361246.7 31 26 7 0 4 37 211 CDC42BPB:single_exon:E19 0.225806 149 CDC42BPB:exon_block:E16-E20 0.322581 581 CDC42BPB:boundary_CDS_coverage:after_E3 0.935484 4782 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC45 ENST00000263201.7 22 17 9 0 5 19 102 CDC45:single_exon:E3 0.181818 93 CDC45:exon_block:E2-E4 0.318182 291 CDC45:boundary_CDS_coverage:after_E1 1.000000 1647 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDC73 ENST00000367435.5 152 129 47 0 23 17 91 CDC73:single_exon:E1 0.250000 301 CDC73:exon_block:E1-E5 0.519737 593 CDC73:boundary_CDS_coverage:after_E1 0.763158 1462 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDCA3 ENST00000538862.7 1 0 0 0 0 6 25 CDCA3:single_exon:E1 0.000000 65 CDCA3:exon_block:E1-E2 0.000000 242 CDCA3:boundary_CDS_coverage:after_E5 1.000000 153 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDCA7 ENST00000306721.8 3 3 0 0 0 10 49 CDCA7:single_exon:E8 0.666667 150 CDCA7:exon_block:E8-E9 1.000000 287 CDCA7:boundary_CDS_coverage:after_E7 1.000000 315 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDCA7L ENST00000406877.8 41 0 0 41 0 10 49 CDCA7L:single_exon:E10 1.000000 1454 CDCA7L:exon_block:E9-E10 1.000000 1591 CDCA7L:boundary_CDS_coverage:after_E9 1.000000 28 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDH1 ENST00000261769.10 622 521 173 0 101 16 85 CDH1:single_exon:E10 0.106109 245 CDH1:exon_block:E9-E13 0.371383 1027 CDH1:boundary_CDS_coverage:after_E1 0.971061 2598 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDH11 ENST00000268603.9 14 12 3 0 2 13 67 CDH11:single_exon:E6 0.285714 168 CDH11:exon_block:E4-E8 0.785714 1025 CDH11:boundary_CDS_coverage:after_E1 1.000000 2388 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDH2 ENST00000269141.8 24 18 6 0 6 16 85 CDH2:single_exon:E12 0.291667 234 CDH2:exon_block:E9-E13 0.625000 1051 CDH2:boundary_CDS_coverage:after_E2 1.000000 2546 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDH23 ENST00000224721.12 725 528 273 0 196 70 409 CDH23:single_exon:E48 0.071724 459 CDH23:exon_block:E47-E51 0.153103 1175 CDH23:boundary_CDS_coverage:after_E1 1.000000 10062 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDH3 ENST00000264012.9 55 37 20 0 18 16 85 CDH3:single_exon:E13 0.127273 207 CDH3:exon_block:E6-E10 0.436364 878 CDH3:boundary_CDS_coverage:after_E1 0.981818 2442 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDH4 ENST00000614565.5 1 1 0 0 0 16 85 CDH4:single_exon:E12 1.000000 234 CDH4:exon_block:E11-E12 1.000000 377 CDH4:boundary_CDS_coverage:after_E11 1.000000 977 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDHR1 ENST00000623527.4 100 68 43 0 31 17 91 CDHR1:single_exon:E13 0.100000 165 CDHR1:exon_block:E12-E16 0.400000 873 CDHR1:boundary_CDS_coverage:after_E1 0.960000 2522 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDIN1 ENST00000566621.6 3 3 1 0 0 11 55 CDIN1:single_exon:E8 0.333333 68 CDIN1:exon_block:E8-E10 0.666667 240 CDIN1:boundary_CDS_coverage:after_E4 1.000000 570 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK10 ENST00000353379.12 28 22 11 0 6 13 67 CDK10:single_exon:E3 0.178571 72 CDK10:exon_block:E7-E11 0.571429 447 CDK10:boundary_CDS_coverage:after_E1 0.964286 993 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK12 ENST00000447079.6 1 1 0 0 0 14 73 CDK12:single_exon:E7 1.000000 57 CDK12:exon_block:E7-E8 1.000000 159 CDK12:boundary_CDS_coverage:after_E6 1.000000 1861 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK13 ENST00000181839.10 86 85 3 0 1 14 73 CDK13:single_exon:E1 0.197674 1597 CDK13:exon_block:E1-E5 0.581395 2739 CDK13:boundary_CDS_coverage:after_E1 0.802326 3325 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK16 ENST00000357227.9 1 1 0 0 0 16 85 CDK16:single_exon:E2 1.000000 208 CDK16:exon_block:E2-E3 1.000000 342 CDK16:boundary_CDS_coverage:after_E1 1.000000 1488 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK19 ENST00000368911.8 8 8 0 0 0 13 67 CDK19:single_exon:E1 0.625000 461 CDK19:exon_block:E1-E2 0.625000 537 CDK19:boundary_CDS_coverage:after_E5 0.375000 992 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK4 ENST00000257904.11 3 3 0 0 0 8 37 CDK4:single_exon:E2 0.666667 237 CDK4:exon_block:E2-E3 1.000000 373 CDK4:boundary_CDS_coverage:after_E1 1.000000 909 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK5 ENST00000485972.6 2 1 1 0 1 12 61 CDK5:single_exon:E3 0.500000 68 CDK5:exon_block:E3-E4 0.500000 129 CDK5:boundary_CDS_coverage:after_E2 1.000000 750 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK5RAP2 ENST00000349780.9 78 64 24 0 14 38 217 CDK5RAP2:single_exon:E30 0.089744 190 CDK5RAP2:exon_block:E7-E11 0.217949 585 CDK5RAP2:boundary_CDS_coverage:after_E2 1.000000 5552 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK6 ENST00000424848.3 1 1 0 0 0 8 37 CDK6:single_exon:E5 1.000000 110 CDK6:exon_block:E5-E6 1.000000 161 CDK6:boundary_CDS_coverage:after_E4 1.000000 441 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK8 ENST00000381527.8 19 19 2 0 0 13 67 CDK8:single_exon:E6 0.368421 132 CDK8:exon_block:E2-E6 0.631579 518 CDK8:boundary_CDS_coverage:after_E1 0.684211 1264 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDK9 ENST00000373264.5 1 1 0 0 0 7 31 CDK9:single_exon:E6 1.000000 149 CDK9:exon_block:E5-E6 1.000000 321 CDK9:boundary_CDS_coverage:after_E5 1.000000 512 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKL2 ENST00000307465.9 1 1 0 0 0 14 72 CDKL2:single_exon:E5 1.000000 113 CDKL2:exon_block:E5-E6 1.000000 253 CDKL2:boundary_CDS_coverage:after_E4 1.000000 1168 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKL5 ENST00000623535.2 806 483 151 0 83 18 97 CDKL5:single_exon:E12 0.166253 967 CDKL5:exon_block:E8-E12 0.351117 1481 CDKL5:boundary_CDS_coverage:after_E1 1.000000 2880 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKN1A ENST00000244741.10 1 1 0 0 0 3 8 CDKN1A:single_exon:E2 1.000000 450 CDKN1A:exon_block:E1-E2 1.000000 535 CDKN1A:boundary_CDS_coverage:after_E1 1.000000 492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKN1B ENST00000228872.9 114 112 0 0 1 3 7 CDKN1B:single_exon:E1 0.947368 947 CDKN1B:exon_block:E1-E2 0.982456 1077 CDKN1B:boundary_CDS_coverage:after_E1 0.043860 119 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKN1C ENST00000440480.8 127 124 11 0 3 4 12 CDKN1C:single_exon:E2 0.826772 797 CDKN1C:exon_block:E2-E3 1.000000 933 CDKN1C:boundary_CDS_coverage:after_E1 1.000000 915 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKN2A ENST00000304494.10 168 136 25 0 16 3 8 CDKN2A:single_exon:E2 0.529762 307 CDKN2A:exon_block:E1-E2 0.880952 487 CDKN2A:boundary_CDS_coverage:after_E1 0.583333 318 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKN2B ENST00000276925.7 5 0 0 5 0 2 4 CDKN2B:single_exon:E2 1.000000 3345 CDKN2B:exon_block:E1-E2 1.000000 3853 CDKN2B:boundary_CDS_coverage:after_E1 1.000000 258 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKN2B-AS1 ENST00000428597.7 5 0 0 0 5 19 85 CDKN2B-AS1:single_exon:E9 0.000000 74 CDKN2B-AS1:exon_block:E9-E10 0.000000 149 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDKN2C ENST00000371761.4 1 1 0 0 0 2 4 CDKN2C:single_exon:E2 1.000000 742 CDKN2C:exon_block:E1-E2 1.000000 995 CDKN2C:boundary_CDS_coverage:after_E1 1.000000 375 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDON ENST00000531738.6 5 5 2 0 0 20 109 CDON:single_exon:E15 0.200000 123 CDON:exon_block:E11-E15 0.800000 747 CDON:boundary_CDS_coverage:after_E4 1.000000 3296 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDSN ENST00000376288.3 9 9 0 0 0 2 4 CDSN:single_exon:E2 0.888889 2443 CDSN:exon_block:E1-E2 1.000000 2555 CDSN:boundary_CDS_coverage:after_E1 0.888889 1502 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDT1 ENST00000301019.9 25 22 4 0 3 10 49 CDT1:single_exon:E9 0.240000 202 CDT1:exon_block:E5-E9 0.560000 791 CDT1:boundary_CDS_coverage:after_E2 0.800000 1287 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CDX2 ENST00000381020.8 1 0 0 1 0 3 8 CDX2:single_exon:E3 1.000000 2452 CDX2:exon_block:E2-E3 1.000000 2598 CDX2:boundary_CDS_coverage:after_E2 1.000000 252 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEACAM16 ENST00000587331.7 15 14 3 0 1 7 31 CEACAM16:single_exon:E5 0.333333 279 CEACAM16:exon_block:E2-E6 1.000000 1363 CEACAM16:boundary_CDS_coverage:after_E2 1.000000 1238 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEBPA ENST00000498907.3 67 67 0 0 0 1 1 CEBPA:single_exon:E1 1.000000 2601 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEBPE ENST00000206513.6 11 11 1 0 0 2 4 CEBPE:single_exon:E1 0.636364 674 CEBPE:exon_block:E1-E2 1.000000 1191 CEBPE:boundary_CDS_coverage:after_E1 0.454545 333 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CECR2 ENST00000262608.13 3 3 0 0 0 19 103 CECR2:single_exon:E14 0.666667 389 CECR2:exon_block:E14-E17 1.000000 2782 CECR2:boundary_CDS_coverage:after_E13 1.000000 2897 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEL ENST00000372080.8 6 6 0 0 0 11 55 CEL:single_exon:E11 0.666667 875 CEL:exon_block:E10-E11 0.666667 1073 CEL:boundary_CDS_coverage:after_E4 1.000000 1721 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CELA2A ENST00000359621.5 5 4 2 0 1 8 37 CELA2A:single_exon:E6 0.400000 146 CELA2A:exon_block:E3-E6 1.000000 510 CELA2A:boundary_CDS_coverage:after_E2 1.000000 678 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CELF2 ENST00000633077.2 15 14 1 0 1 13 67 CELF2:single_exon:E13 0.533333 7750 CELF2:exon_block:E9-E13 0.866667 8347 CELF2:boundary_CDS_coverage:after_E1 1.000000 1489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CELSR1 ENST00000674500.2 14 9 5 0 5 35 199 CELSR1:single_exon:E1 0.428571 3994 CELSR1:exon_block:E1-E2 0.428571 4633 CELSR1:boundary_CDS_coverage:after_E8 0.571429 3998 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CELSR2 ENST00000271332.4 2 2 0 0 0 34 193 CELSR2:single_exon:E2 0.500000 648 CELSR2:exon_block:E1-E2 1.000000 4499 CELSR2:boundary_CDS_coverage:after_E1 0.500000 5459 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CELSR3 ENST00000164024.5 13 13 0 0 0 35 199 CELSR3:single_exon:E1 0.307692 4000 CELSR3:exon_block:E19-E23 0.307692 813 CELSR3:boundary_CDS_coverage:after_E6 0.692308 4948 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEMIP2 ENST00000377044.9 2 2 0 0 0 24 133 CEMIP2:single_exon:E6 0.500000 189 CEMIP2:exon_block:E5-E6 0.500000 359 CEMIP2:boundary_CDS_coverage:after_E5 1.000000 2945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CENATAC ENST00000334418.6 2 2 2 0 0 11 55 CENATAC:single_exon:E9 1.000000 90 CENATAC:exon_block:E8-E9 1.000000 121 CENATAC:boundary_CDS_coverage:after_E8 1.000000 281 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CENPE ENST00000265148.9 5 4 1 0 1 49 283 CENPE:single_exon:E10 0.200000 88 CENPE:exon_block:E10-E11 0.400000 218 CENPE:boundary_CDS_coverage:after_E9 1.000000 7358 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CENPF ENST00000366955.8 60 49 12 0 11 20 109 CENPF:single_exon:E12 0.283333 3404 CENPF:exon_block:E12-E16 0.666667 6740 CENPF:boundary_CDS_coverage:after_E2 1.000000 9180 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CENPO ENST00000380834.7 1 0 0 1 0 8 36 CENPO:single_exon:E8 1.000000 3023 CENPO:exon_block:E7-E8 1.000000 3195 CENPO:boundary_CDS_coverage:after_E6 1.000000 134 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CENPP ENST00000375587.8 1 1 0 0 0 8 37 CENPP:single_exon:E8 1.000000 7511 CENPP:exon_block:E7-E8 1.000000 7603 CENPP:boundary_CDS_coverage:after_E7 1.000000 128 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CENPT ENST00000562787.6 2 0 1 0 2 16 85 CENPT:single_exon:E12 0.500000 324 CENPT:exon_block:E12-E13 0.500000 418 CENPT:boundary_CDS_coverage:after_E1 1.000000 1683 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP104 ENST00000378230.8 50 38 17 0 12 22 121 CEP104:single_exon:E9 0.120000 228 CEP104:exon_block:E7-E11 0.380000 919 CEP104:boundary_CDS_coverage:after_E1 1.000000 2775 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP112 ENST00000535342.7 3 3 0 0 0 27 151 CEP112:single_exon:E5 0.333333 94 CEP112:exon_block:E5-E6 0.333333 172 CEP112:boundary_CDS_coverage:after_E4 1.000000 2395 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP120 ENST00000306467.10 40 29 12 0 11 20 109 CEP120:single_exon:E8 0.125000 217 CEP120:exon_block:E14-E18 0.325000 567 CEP120:boundary_CDS_coverage:after_E1 1.000000 2909 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP128 ENST00000555265.6 6 0 0 0 0 25 139 CEP128:single_exon:E21 0.000000 24 CEP128:exon_block:E20-E21 0.000000 74 CEP128:boundary_CDS_coverage:after_E24 0.000000 101 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP135 ENST00000257287.5 57 48 17 0 9 26 144 CEP135:single_exon:E23 0.140351 203 CEP135:exon_block:E7-E11 0.350877 774 CEP135:boundary_CDS_coverage:after_E2 1.000000 3307 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP152 ENST00000380950.7 142 111 45 0 31 27 151 CEP152:single_exon:E20 0.098592 651 CEP152:exon_block:E5-E9 0.295775 912 CEP152:boundary_CDS_coverage:after_E1 1.000000 5130 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP164 ENST00000278935.8 136 99 49 1 36 33 187 CEP164:single_exon:E30 0.080882 348 CEP164:exon_block:E13-E17 0.235294 874 CEP164:boundary_CDS_coverage:after_E1 1.000000 4380 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP19 ENST00000409690.5 1 1 0 0 0 3 8 CEP19:single_exon:E3 1.000000 1636 CEP19:exon_block:E2-E3 1.000000 1836 CEP19:boundary_CDS_coverage:after_E2 1.000000 359 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP250 ENST00000397527.6 102 87 23 0 15 35 199 CEP250:single_exon:E30 0.352941 2616 CEP250:exon_block:E26-E30 0.460784 3330 CEP250:boundary_CDS_coverage:after_E1 1.000000 7326 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP290 ENST00000552810.6 949 774 268 0 175 54 313 CEP290:single_exon:E31 0.055848 456 CEP290:exon_block:E28-E32 0.150685 1091 CEP290:boundary_CDS_coverage:after_E1 1.000000 7437 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP295 ENST00000325212.11 5 5 0 0 0 30 169 CEP295:single_exon:E15 0.400000 3505 CEP295:exon_block:E13-E15 0.800000 3741 CEP295:boundary_CDS_coverage:after_E2 1.000000 7695 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP41 ENST00000223208.10 22 12 11 0 10 11 55 CEP41:single_exon:E2 0.181818 64 CEP41:exon_block:E6-E10 0.590909 696 CEP41:boundary_CDS_coverage:after_E1 0.954545 1086 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP55 ENST00000371485.8 12 10 4 0 2 9 43 CEP55:single_exon:E8 0.250000 126 CEP55:exon_block:E4-E8 0.666667 732 CEP55:boundary_CDS_coverage:after_E2 1.000000 1209 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP57 ENST00000325542.10 19 15 5 0 4 11 55 CEP57:single_exon:E9 0.210526 242 CEP57:exon_block:E3-E7 0.578947 605 CEP57:boundary_CDS_coverage:after_E1 0.947368 1455 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP63 ENST00000675561.1 43 27 13 0 8 15 79 CEP63:single_exon:E7 0.139535 234 CEP63:exon_block:E7-E11 0.488372 825 CEP63:boundary_CDS_coverage:after_E2 1.000000 2065 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP76 ENST00000262127.7 13 13 3 0 0 12 61 CEP76:single_exon:E4 0.230769 225 CEP76:exon_block:E4-E8 0.538462 827 CEP76:boundary_CDS_coverage:after_E1 1.000000 1914 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP78 ENST00000643273.2 67 52 19 0 15 17 91 CEP78:single_exon:E12 0.119403 78 CEP78:exon_block:E1-E5 0.417910 1054 CEP78:boundary_CDS_coverage:after_E1 0.910448 1862 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP83 ENST00000397809.10 45 42 11 0 3 17 91 CEP83:single_exon:E10 0.155556 145 CEP83:exon_block:E9-E13 0.422222 644 CEP83:boundary_CDS_coverage:after_E1 1.000000 2103 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP85L ENST00000368491.8 27 9 6 0 17 13 67 CEP85L:single_exon:E2 0.407407 159 CEP85L:exon_block:E1-E2 0.518519 554 CEP85L:boundary_CDS_coverage:after_E1 0.851852 2342 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CEP97 ENST00000341893.8 1 1 0 0 0 11 55 CEP97:single_exon:E9 1.000000 790 CEP97:exon_block:E9-E10 1.000000 866 CEP97:boundary_CDS_coverage:after_E8 1.000000 1568 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CERKL ENST00000410087.8 202 148 58 0 54 13 67 CERKL:single_exon:E2 0.183168 243 CERKL:exon_block:E1-E5 0.549505 919 CERKL:boundary_CDS_coverage:after_E1 0.866337 1358 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CERS1 ENST00000623882.4 31 2 0 29 0 8 36 CERS1:single_exon:E8 0.806452 846 CERS1:exon_block:E7-E8 0.935484 1483 CERS1:boundary_CDS_coverage:after_E1 1.000000 801 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CERS3 ENST00000679737.1 19 15 6 0 4 12 61 CERS3:single_exon:E9 0.210526 129 CERS3:exon_block:E5-E9 0.578947 450 CERS3:boundary_CDS_coverage:after_E1 1.000000 1149 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CERT1 ENST00000643780.2 13 11 1 2 0 17 91 CERT1:single_exon:E4 0.153846 108 CERT1:exon_block:E1-E5 0.615385 1017 CERT1:boundary_CDS_coverage:after_E1 0.846154 1776 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CES1 ENST00000360526.8 2 2 0 0 0 14 73 CES1:single_exon:E6 0.500000 108 CES1:exon_block:E4-E6 1.000000 396 CES1:boundary_CDS_coverage:after_E3 1.000000 1299 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CETP ENST00000200676.8 10 6 5 0 4 16 85 CETP:single_exon:E10 0.300000 51 CETP:exon_block:E10-E14 0.500000 391 CETP:boundary_CDS_coverage:after_E1 1.000000 1361 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP126 ENST00000367974.2 2 0 0 0 1 5 19 CFAP126:single_exon:E1 0.000000 35 CFAP126:exon_block:E1-E2 0.000000 98 CFAP126:boundary_CDS_coverage:after_E1 1.000000 504 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP20 ENST00000262498.8 5 4 2 0 1 6 25 CFAP20:single_exon:E4 0.600000 189 CFAP20:exon_block:E2-E4 1.000000 381 CFAP20:boundary_CDS_coverage:after_E2 1.000000 415 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP206 ENST00000369562.9 2 2 0 0 0 13 67 CFAP206:single_exon:E11 1.000000 194 CFAP206:exon_block:E10-E11 1.000000 335 CFAP206:boundary_CDS_coverage:after_E10 1.000000 566 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP221 ENST00000413369.8 4 3 1 0 1 24 133 CFAP221:single_exon:E22 0.500000 93 CFAP221:exon_block:E21-E22 0.500000 185 CFAP221:boundary_CDS_coverage:after_E14 1.000000 1110 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP251 ENST00000288912.9 10 9 1 0 1 22 121 CFAP251:single_exon:E2 0.500000 398 CFAP251:exon_block:E2-E4 0.700000 908 CFAP251:boundary_CDS_coverage:after_E1 1.000000 3447 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP298 ENST00000290155.8 12 11 3 0 1 7 31 CFAP298:single_exon:E6 0.333333 96 CFAP298:exon_block:E2-E6 0.916667 623 CFAP298:boundary_CDS_coverage:after_E1 1.000000 731 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP300 ENST00000434758.7 20 17 9 0 3 7 31 CFAP300:single_exon:E4 0.350000 167 CFAP300:exon_block:E2-E6 0.800000 565 CFAP300:boundary_CDS_coverage:after_E1 1.000000 691 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP410 ENST00000339818.9 47 34 14 0 13 7 31 CFAP410:single_exon:E4 0.361702 230 CFAP410:exon_block:E1-E5 0.872340 741 CFAP410:boundary_CDS_coverage:after_E1 0.936170 691 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP418 ENST00000286688.6 26 22 8 0 4 6 25 CFAP418:single_exon:E1 0.269231 167 CFAP418:exon_block:E1-E5 0.769231 482 CFAP418:boundary_CDS_coverage:after_E1 0.769231 466 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP43 ENST00000357060.8 23 20 5 0 3 38 217 CFAP43:single_exon:E29 0.130435 108 CFAP43:exon_block:E28-E32 0.304348 618 CFAP43:boundary_CDS_coverage:after_E1 1.000000 4930 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP44 ENST00000393845.9 15 12 7 0 3 35 199 CFAP44:single_exon:E5 0.133333 163 CFAP44:exon_block:E4-E6 0.266667 420 CFAP44:boundary_CDS_coverage:after_E3 1.000000 5309 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP45 ENST00000368099.9 4 4 1 0 0 12 61 CFAP45:single_exon:E8 0.250000 147 CFAP45:exon_block:E5-E8 0.750000 627 CFAP45:boundary_CDS_coverage:after_E4 1.000000 1236 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP47 ENST00000378653.8 1 1 1 0 0 64 373 CFAP47:single_exon:E47 1.000000 144 CFAP47:exon_block:E47-E48 1.000000 318 CFAP47:boundary_CDS_coverage:after_E46 1.000000 2547 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP52 ENST00000352665.10 4 3 2 0 1 14 73 CFAP52:single_exon:E5 0.250000 100 CFAP52:exon_block:E4-E6 0.750000 346 CFAP52:boundary_CDS_coverage:after_E4 1.000000 1324 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP53 ENST00000398545.5 12 6 7 0 6 8 37 CFAP53:single_exon:E6 0.250000 217 CFAP53:exon_block:E2-E6 0.916667 1144 CFAP53:boundary_CDS_coverage:after_E1 1.000000 1473 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP54 ENST00000524981.9 7 7 1 0 0 68 396 CFAP54:single_exon:E6 0.285714 144 CFAP54:exon_block:E6-E7 0.428571 258 CFAP54:boundary_CDS_coverage:after_E5 1.000000 8490 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP57 ENST00000372492.9 2 2 1 0 0 23 127 CFAP57:single_exon:E19 0.500000 117 CFAP57:exon_block:E19-E20 0.500000 252 CFAP57:boundary_CDS_coverage:after_E10 1.000000 1995 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP58 ENST00000369704.8 6 6 2 0 0 18 97 CFAP58:single_exon:E14 0.333333 112 CFAP58:exon_block:E12-E16 0.666667 702 CFAP58:boundary_CDS_coverage:after_E8 1.000000 1443 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP61 ENST00000245957.10 7 5 3 0 2 27 151 CFAP61:single_exon:E16 0.285714 207 CFAP61:exon_block:E2-E6 0.428571 602 CFAP61:boundary_CDS_coverage:after_E2 1.000000 3568 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP65 ENST00000341552.10 8 7 2 0 1 35 199 CFAP65:single_exon:E33 0.250000 504 CFAP65:exon_block:E21-E22 0.250000 306 CFAP65:boundary_CDS_coverage:after_E4 1.000000 5418 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP69 ENST00000389297.8 6 5 1 0 1 23 127 CFAP69:single_exon:E8 0.333333 178 CFAP69:exon_block:E4-E8 0.666667 614 CFAP69:boundary_CDS_coverage:after_E3 1.000000 2577 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP70 ENST00000355577.9 1 0 1 0 1 28 157 CFAP70:single_exon:E16 1.000000 132 CFAP70:exon_block:E16-E17 1.000000 258 CFAP70:boundary_CDS_coverage:after_E15 1.000000 1641 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP74 ENST00000682832.2 12 12 2 0 0 39 223 CFAP74:single_exon:E15 0.166667 67 CFAP74:exon_block:E7-E10 0.333333 546 CFAP74:boundary_CDS_coverage:after_E6 1.000000 4417 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP91 ENST00000273390.9 2 1 1 0 1 18 96 CFAP91:single_exon:E13 0.500000 147 CFAP91:exon_block:E12-E13 0.500000 219 CFAP91:boundary_CDS_coverage:after_E6 1.000000 1619 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP92 ENST00000645291.3 27 0 0 13 14 16 85 CFAP92:single_exon:E16 0.481481 461 CFAP92:exon_block:E15-E16 0.481481 618 CFAP92:boundary_CDS_coverage:after_E15 1.000000 32 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFAP96 ENST00000378850.5 2 0 0 0 0 8 37 CFAP96:single_exon:E5 0.000000 76 CFAP96:exon_block:E4-E5 0.000000 214 CFAP96:boundary_CDS_coverage:after_E7 0.000000 46 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFB ENST00000425368.7 13 12 1 0 1 18 97 CFB:single_exon:E8 0.461538 132 CFB:exon_block:E6-E8 1.000000 408 CFB:boundary_CDS_coverage:after_E5 1.000000 1532 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFC1 ENST00000259216.6 3 2 0 0 1 6 25 CFC1:single_exon:E4 0.333333 115 CFC1:exon_block:E3-E4 0.666667 289 CFC1:boundary_CDS_coverage:after_E2 1.000000 596 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFD ENST00000327726.11 14 7 4 0 5 5 19 CFD:single_exon:E2 0.357143 157 CFD:exon_block:E1-E4 0.785714 641 CFD:boundary_CDS_coverage:after_E1 0.785714 704 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFH ENST00000367429.9 215 184 50 0 31 22 121 CFH:single_exon:E22 0.120930 394 CFH:exon_block:E18-E22 0.320930 1105 CFH:boundary_CDS_coverage:after_E1 0.981395 3635 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFHR1 ENST00000320493.10 1 1 0 0 0 6 25 CFHR1:single_exon:E6 1.000000 393 CFHR1:exon_block:E5-E6 1.000000 576 CFHR1:boundary_CDS_coverage:after_E5 1.000000 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFHR3 ENST00000367425.9 1 1 1 0 0 6 25 CFHR3:single_exon:E4 1.000000 183 CFHR3:exon_block:E3-E4 1.000000 360 CFHR3:boundary_CDS_coverage:after_E3 1.000000 560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFHR5 ENST00000256785.5 2 1 0 0 1 10 49 CFHR5:single_exon:E8 0.500000 183 CFHR5:exon_block:E7-E8 0.500000 360 CFHR5:boundary_CDS_coverage:after_E1 1.000000 1649 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFI ENST00000394634.7 124 109 28 0 15 13 67 CFI:single_exon:E2 0.177419 271 CFI:exon_block:E2-E6 0.548387 826 CFI:boundary_CDS_coverage:after_E1 0.991935 1692 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFL2 ENST00000298159.11 7 5 0 0 2 4 13 CFL2:single_exon:E2 0.571429 308 CFL2:exon_block:E2-E3 0.714286 385 CFL2:boundary_CDS_coverage:after_E1 1.000000 495 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFP ENST00000396992.8 8 6 3 0 2 9 43 CFP:single_exon:E6 0.250000 174 CFP:exon_block:E4-E8 0.875000 841 CFP:boundary_CDS_coverage:after_E2 1.000000 1180 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CFTR ENST00000003084.11 1471 1211 397 1 257 27 151 CFTR:single_exon:E14 0.119646 724 CFTR:exon_block:E10-E14 0.288239 1281 CFTR:boundary_CDS_coverage:after_E1 0.980965 4387 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CGNL1 ENST00000281282.6 1 1 0 0 0 19 103 CGNL1:single_exon:E8 1.000000 213 CGNL1:exon_block:E7-E8 1.000000 349 CGNL1:boundary_CDS_coverage:after_E7 1.000000 1716 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHAF1A ENST00000301280.10 7 5 2 0 2 15 79 CHAF1A:single_exon:E12 0.285714 256 CHAF1A:exon_block:E8-E12 0.571429 826 CHAF1A:boundary_CDS_coverage:after_E2 1.000000 2765 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHAF1B ENST00000314103.6 1 1 0 0 0 14 73 CHAF1B:single_exon:E6 1.000000 97 CHAF1B:exon_block:E6-E7 1.000000 182 CHAF1B:boundary_CDS_coverage:after_E5 1.000000 1196 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHAMP1 ENST00000361283.4 58 58 0 0 0 3 8 CHAMP1:single_exon:E3 1.000000 3535 CHAMP1:exon_block:E2-E3 1.000000 3658 CHAMP1:boundary_CDS_coverage:after_E1 1.000000 2436 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHAT ENST00000337653.7 110 90 29 0 17 15 79 CHAT:single_exon:E10 0.172727 129 CHAT:exon_block:E8-E12 0.454545 665 CHAT:boundary_CDS_coverage:after_E2 0.945455 1857 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHCHD10 ENST00000484558.3 5 5 2 0 0 4 13 CHCHD10:single_exon:E2 1.000000 220 CHCHD10:exon_block:E1-E2 1.000000 359 CHCHD10:boundary_CDS_coverage:after_E1 1.000000 385 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHCHD2 ENST00000395422.4 2 1 1 0 1 4 13 CHCHD2:single_exon:E2 1.000000 250 CHCHD2:exon_block:E1-E2 1.000000 363 CHCHD2:boundary_CDS_coverage:after_E1 1.000000 403 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHCHD4 ENST00000396914.4 1 1 0 0 0 3 8 CHCHD4:single_exon:E1 1.000000 216 CHCHD4:exon_block:E1-E2 1.000000 315 CHCHD4:boundary_CDS_coverage:after_E2 0.000000 305 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHD1 ENST00000614616.5 11 10 0 0 1 36 205 CHD1:single_exon:E9 0.181818 101 CHD1:exon_block:E6-E9 0.363636 749 CHD1:boundary_CDS_coverage:after_E5 1.000000 4693 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHD2 ENST00000394196.9 368 318 95 0 50 39 223 CHD2:single_exon:E21 0.073370 150 CHD2:exon_block:E21-E25 0.192935 660 CHD2:boundary_CDS_coverage:after_E1 1.000000 5484 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHD3 ENST00000330494.12 122 113 23 0 9 40 229 CHD3:single_exon:E23 0.147541 232 CHD3:exon_block:E22-E26 0.344262 768 CHD3:boundary_CDS_coverage:after_E1 0.991803 5900 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHD4 ENST00000544040.7 69 63 15 0 6 40 229 CHD4:single_exon:E24 0.173913 238 CHD4:exon_block:E20-E24 0.434783 755 CHD4:boundary_CDS_coverage:after_E1 1.000000 5736 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHD5 ENST00000262450.8 39 35 7 0 4 42 240 CHD5:single_exon:E22 0.102564 125 CHD5:exon_block:E18-E22 0.256410 691 CHD5:boundary_CDS_coverage:after_E1 1.000000 5783 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHD7 ENST00000423902.7 829 715 198 0 114 38 217 CHD7:single_exon:E2 0.142340 1839 CHD7:exon_block:E2-E6 0.241255 2616 CHD7:boundary_CDS_coverage:after_E1 1.000000 8991 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHD8 ENST00000646647.2 212 186 61 0 26 38 217 CHD8:single_exon:E18 0.070755 196 CHD8:exon_block:E16-E20 0.221698 1011 CHD8:boundary_CDS_coverage:after_E1 1.000000 7743 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHEK1 ENST00000438015.7 5 5 1 0 0 13 67 CHEK1:single_exon:E12 0.600000 102 CHEK1:exon_block:E10-E12 1.000000 412 CHEK1:boundary_CDS_coverage:after_E9 1.000000 505 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHEK2 ENST00000404276.6 1025 835 307 0 190 15 79 CHEK2:single_exon:E2 0.148293 325 CHEK2:exon_block:E2-E6 0.475122 798 CHEK2:boundary_CDS_coverage:after_E1 1.000000 1629 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHFR ENST00000450056.7 1 1 1 0 0 18 97 CHFR:single_exon:E11 1.000000 143 CHFR:exon_block:E11-E12 1.000000 263 CHFR:boundary_CDS_coverage:after_E10 1.000000 727 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHKA ENST00000265689.9 5 5 1 0 0 12 61 CHKA:single_exon:E9 0.400000 109 CHKA:exon_block:E1-E4 0.600000 841 CHKA:boundary_CDS_coverage:after_E1 0.800000 1021 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHKB ENST00000406938.3 42 33 18 0 9 11 55 CHKB:single_exon:E6 0.166667 59 CHKB:exon_block:E3-E7 0.571429 485 CHKB:boundary_CDS_coverage:after_E1 0.857143 961 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHM ENST00000357749.7 314 243 115 0 71 15 79 CHM:single_exon:E5 0.194268 388 CHM:exon_block:E4-E8 0.490446 977 CHM:boundary_CDS_coverage:after_E1 0.968153 1910 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHMP1A ENST00000397901.8 5 3 3 0 2 7 31 CHMP1A:single_exon:E3 0.400000 78 CHMP1A:exon_block:E2-E5 0.800000 374 CHMP1A:boundary_CDS_coverage:after_E1 1.000000 581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHMP2B ENST00000263780.9 6 5 2 0 1 6 25 CHMP2B:single_exon:E6 0.666667 1845 CHMP2B:exon_block:E3-E6 1.000000 2250 CHMP2B:boundary_CDS_coverage:after_E2 1.000000 513 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHMP4B ENST00000217402.3 3 3 2 0 0 5 19 CHMP4B:single_exon:E3 0.666667 115 CHMP4B:exon_block:E2-E3 1.000000 293 CHMP4B:boundary_CDS_coverage:after_E1 1.000000 482 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHN1 ENST00000409900.9 13 13 2 0 0 13 67 CHN1:single_exon:E8 0.384615 85 CHN1:exon_block:E6-E10 0.846154 704 CHN1:boundary_CDS_coverage:after_E2 1.000000 1319 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHP1 ENST00000334660.10 1 1 0 0 0 7 31 CHP1:single_exon:E1 1.000000 182 CHP1:exon_block:E1-E2 1.000000 255 CHP1:boundary_CDS_coverage:after_E6 0.000000 51 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRDL1 ENST00000372042.6 22 18 9 0 4 12 61 CHRDL1:single_exon:E9 0.227273 210 CHRDL1:exon_block:E2-E6 0.636364 575 CHRDL1:boundary_CDS_coverage:after_E1 1.000000 1374 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRM1 ENST00000306960.4 1 1 0 0 0 2 4 CHRM1:single_exon:E2 1.000000 2500 CHRM1:exon_block:E1-E2 1.000000 2646 CHRM1:boundary_CDS_coverage:after_E1 1.000000 1380 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRM3 ENST00000676153.1 3 3 0 0 0 7 31 CHRM3:single_exon:E7 1.000000 8018 CHRM3:exon_block:E6-E7 1.000000 8145 CHRM3:boundary_CDS_coverage:after_E1 1.000000 1770 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNA1 ENST00000348749.9 47 40 8 0 7 9 43 CHRNA1:single_exon:E5 0.234043 196 CHRNA1:exon_block:E4-E8 0.808511 1008 CHRNA1:boundary_CDS_coverage:after_E1 1.000000 1328 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNA2 ENST00000407991.3 4 4 0 0 0 7 31 CHRNA2:single_exon:E6 1.000000 1015 CHRNA2:exon_block:E5-E6 1.000000 1125 CHRNA2:boundary_CDS_coverage:after_E5 1.000000 1138 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNA3 ENST00000326828.6 16 14 3 0 2 6 25 CHRNA3:single_exon:E5 0.687500 1012 CHRNA3:exon_block:E1-E5 1.000000 1591 CHRNA3:boundary_CDS_coverage:after_E2 0.937500 1293 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNA4 ENST00000370263.9 8 8 0 0 0 6 25 CHRNA4:single_exon:E5 1.000000 1375 CHRNA4:exon_block:E4-E5 1.000000 1485 CHRNA4:boundary_CDS_coverage:after_E4 1.000000 1498 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNB1 ENST00000306071.7 31 26 7 0 5 11 55 CHRNB1:single_exon:E8 0.258065 224 CHRNB1:exon_block:E4-E8 0.774194 801 CHRNB1:boundary_CDS_coverage:after_E3 0.967742 1260 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNB2 ENST00000368476.4 7 6 1 0 1 6 25 CHRNB2:single_exon:E5 0.857143 973 CHRNB2:exon_block:E4-E5 1.000000 1083 CHRNB2:boundary_CDS_coverage:after_E3 1.000000 1251 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNB4 ENST00000261751.8 3 3 0 0 0 6 25 CHRNB4:single_exon:E2 0.333333 149 CHRNB4:exon_block:E2-E6 1.000000 2464 CHRNB4:boundary_CDS_coverage:after_E1 1.000000 1439 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRND ENST00000258385.8 44 35 22 0 9 12 61 CHRND:single_exon:E4 0.136364 110 CHRND:exon_block:E4-E8 0.545455 689 CHRND:boundary_CDS_coverage:after_E1 0.954545 1499 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNE ENST00000649488.2 264 218 75 0 45 12 61 CHRNE:single_exon:E10 0.178030 187 CHRNE:exon_block:E7-E11 0.594697 725 CHRNE:boundary_CDS_coverage:after_E1 0.981061 1433 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHRNG ENST00000651502.1 80 61 31 0 19 12 61 CHRNG:single_exon:E5 0.187500 156 CHRNG:exon_block:E4-E8 0.550000 680 CHRNG:boundary_CDS_coverage:after_E1 0.962500 1496 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHST14 ENST00000306243.7 37 37 0 0 0 1 1 CHST14:single_exon:E1 1.000000 2175 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHST3 ENST00000373115.5 57 55 2 0 2 3 8 CHST3:single_exon:E3 0.964912 6387 CHST3:exon_block:E2-E3 1.000000 6634 CHST3:boundary_CDS_coverage:after_E1 1.000000 1437 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHST6 ENST00000332272.9 53 53 0 0 0 3 8 CHST6:single_exon:E3 1.000000 7793 CHST6:exon_block:E2-E3 1.000000 7868 CHST6:boundary_CDS_coverage:after_E1 1.000000 1185 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHSY1 ENST00000254190.4 7 6 1 0 1 3 8 CHSY1:single_exon:E1 0.571429 912 CHSY1:exon_block:E1-E3 1.000000 4662 CHSY1:boundary_CDS_coverage:after_E1 0.428571 2086 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CHUK ENST00000370397.8 6 3 3 0 3 21 115 CHUK:single_exon:E12 0.333333 124 CHUK:exon_block:E4-E6 0.500000 249 CHUK:boundary_CDS_coverage:after_E3 1.000000 1920 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIAO1 ENST00000488633.2 3 3 0 0 0 7 31 CIAO1:single_exon:E6 0.333333 88 CIAO1:exon_block:E5-E7 1.000000 3353 CIAO1:boundary_CDS_coverage:after_E4 1.000000 528 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIB1 ENST00000328649.11 15 9 5 0 6 7 31 CIB1:single_exon:E5 0.333333 119 CIB1:exon_block:E1-E5 0.800000 521 CIB1:boundary_CDS_coverage:after_E1 0.866667 522 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIB2 ENST00000258930.8 27 23 9 0 4 6 25 CIB2:single_exon:E5 0.370370 196 CIB2:exon_block:E1-E5 0.962963 772 CIB2:boundary_CDS_coverage:after_E2 0.888889 475 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIBAR1 ENST00000518322.6 3 3 0 0 0 9 43 CIBAR1:single_exon:E4 0.666667 102 CIBAR1:exon_block:E4-E6 1.000000 213 CIBAR1:boundary_CDS_coverage:after_E3 1.000000 537 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIC ENST00000681038.1 75 69 16 0 6 21 115 CIC:single_exon:E11 0.253333 1234 CIC:exon_block:E2-E6 0.373333 3502 CIC:boundary_CDS_coverage:after_E1 1.000000 7551 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIDEC ENST00000336832.7 1 1 1 0 0 7 31 CIDEC:single_exon:E7 1.000000 583 CIDEC:exon_block:E6-E7 1.000000 771 CIDEC:boundary_CDS_coverage:after_E6 1.000000 160 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIITA ENST00000324288.14 105 84 31 0 21 20 108 CIITA:single_exon:E11 0.504762 1651 CIITA:exon_block:E7-E11 0.676190 2176 CIITA:boundary_CDS_coverage:after_E2 0.971429 3191 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CILK1 ENST00000676107.1 6 5 2 0 1 14 73 CILK1:single_exon:E8 0.333333 168 CILK1:exon_block:E4-E8 0.666667 675 CILK1:boundary_CDS_coverage:after_E1 1.000000 1896 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CINP ENST00000216756.11 1 0 0 1 0 5 19 CINP:single_exon:E5 1.000000 478 CINP:exon_block:E4-E5 1.000000 608 CINP:boundary_CDS_coverage:after_E4 1.000000 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIROP ENST00000637218.2 8 7 3 0 1 16 85 CIROP:single_exon:E11 0.250000 70 CIROP:exon_block:E8-E11 0.875000 476 CIROP:boundary_CDS_coverage:after_E3 1.000000 1905 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIROZ ENST00000377004.9 3 3 0 0 0 13 66 CIROZ:single_exon:E7 0.333333 138 CIROZ:exon_block:E5-E7 0.666667 321 CIROZ:boundary_CDS_coverage:after_E4 1.000000 2097 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CISD2 ENST00000273986.10 3 2 3 0 1 3 8 CISD2:single_exon:E2 0.666667 215 CISD2:exon_block:E1-E2 1.000000 411 CISD2:boundary_CDS_coverage:after_E1 1.000000 302 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIT ENST00000392521.7 25 19 9 0 6 48 277 CIT:single_exon:E4 0.160000 176 CIT:exon_block:E3-E7 0.520000 657 CIT:boundary_CDS_coverage:after_E1 1.000000 6207 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CITED2 ENST00000367651.4 1 1 0 0 0 2 4 CITED2:single_exon:E2 1.000000 2146 CITED2:exon_block:E1-E2 1.000000 2382 CITED2:boundary_CDS_coverage:after_E1 1.000000 810 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CIZ1 ENST00000372938.10 6 0 0 0 0 17 91 CIZ1:single_exon:E15 0.000000 70 CIZ1:exon_block:E3-E4 0.000000 188 CIZ1:boundary_CDS_coverage:after_E16 0.000000 207 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CKAP2L ENST00000302450.11 21 20 3 0 1 9 43 CKAP2L:single_exon:E4 0.523810 1238 CKAP2L:exon_block:E1-E5 0.857143 1613 CKAP2L:boundary_CDS_coverage:after_E1 0.904762 2198 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CKS1B ENST00000308987.6 2 2 0 0 0 3 8 CKS1B:single_exon:E1 1.000000 124 CKS1B:exon_block:E1-E2 1.000000 252 CKS1B:boundary_CDS_coverage:after_E2 0.000000 50 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLASP1 ENST00000696935.1 28 0 0 0 28 41 235 CLASP1:single_exon:E28 0.000000 3 CLASP1:exon_block:E27-E28 0.000000 67 CLASP1:boundary_CDS_coverage:after_E2 1.000000 4482 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCC1 ENST00000369969.7 1 1 0 0 0 13 66 CLCC1:single_exon:E3 1.000000 140 CLCC1:exon_block:E3-E4 1.000000 242 CLCC1:boundary_CDS_coverage:after_E1 1.000000 1653 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCF1 ENST00000312438.8 4 3 0 1 0 3 8 CLCF1:single_exon:E3 0.750000 1463 CLCF1:exon_block:E2-E3 1.000000 1630 CLCF1:boundary_CDS_coverage:after_E1 1.000000 659 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCN1 ENST00000343257.7 342 287 111 0 55 23 127 CLCN1:single_exon:E8 0.111111 126 CLCN1:exon_block:E13-E17 0.289474 771 CLCN1:boundary_CDS_coverage:after_E1 0.953216 2784 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCN2 ENST00000265593.9 46 36 21 0 10 24 133 CLCN2:single_exon:E2 0.173913 157 CLCN2:exon_block:E1-E5 0.326087 741 CLCN2:boundary_CDS_coverage:after_E1 0.978261 2631 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCN3 ENST00000513761.6 17 17 1 0 0 13 67 CLCN3:single_exon:E9 0.294118 546 CLCN3:exon_block:E7-E11 0.764706 1420 CLCN3:boundary_CDS_coverage:after_E2 1.000000 2294 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCN4 ENST00000380833.9 67 63 12 0 4 13 67 CLCN4:single_exon:E11 0.238806 399 CLCN4:exon_block:E7-E11 0.776119 1420 CLCN4:boundary_CDS_coverage:after_E1 1.000000 2280 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCN5 ENST00000376091.8 137 115 35 0 22 15 79 CLCN5:single_exon:E13 0.204380 399 CLCN5:exon_block:E9-E13 0.664234 1417 CLCN5:boundary_CDS_coverage:after_E4 1.000000 2285 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCN6 ENST00000346436.11 1 1 0 0 0 23 127 CLCN6:single_exon:E8 1.000000 68 CLCN6:exon_block:E8-E9 1.000000 127 CLCN6:boundary_CDS_coverage:after_E7 1.000000 2027 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCN7 ENST00000382745.9 93 71 38 1 21 25 139 CLCN7:single_exon:E9 0.096774 84 CLCN7:exon_block:E20-E24 0.258065 534 CLCN7:boundary_CDS_coverage:after_E1 0.978495 2274 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCNKA ENST00000331433.5 5 5 2 0 0 20 109 CLCNKA:single_exon:E18 0.200000 84 CLCNKA:exon_block:E17-E19 0.600000 260 CLCNKA:boundary_CDS_coverage:after_E3 1.000000 1832 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLCNKB ENST00000375679.9 85 67 32 0 18 20 109 CLCNKB:single_exon:E14 0.129412 111 CLCNKB:exon_block:E11-E15 0.400000 654 CLCNKB:boundary_CDS_coverage:after_E1 1.000000 2061 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN1 ENST00000295522.4 8 8 0 0 0 4 13 CLDN1:single_exon:E1 0.750000 463 CLDN1:exon_block:E1-E3 1.000000 713 CLDN1:boundary_CDS_coverage:after_E1 0.250000 410 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN10 ENST00000299339.3 7 7 1 0 0 5 19 CLDN10:single_exon:E1 0.571429 254 CLDN10:exon_block:E1-E5 1.000000 2466 CLDN10:boundary_CDS_coverage:after_E2 0.428571 302 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN11 ENST00000064724.8 2 0 0 2 0 3 8 CLDN11:single_exon:E3 1.000000 2168 CLDN11:exon_block:E2-E3 1.000000 2333 CLDN11:boundary_CDS_coverage:after_E2 1.000000 230 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN14 ENST00000399135.6 19 19 0 0 0 2 4 CLDN14:single_exon:E2 1.000000 1156 CLDN14:exon_block:E1-E2 1.000000 1784 CLDN14:boundary_CDS_coverage:after_E1 1.000000 717 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN16 ENST00000264734.3 56 43 11 0 5 5 19 CLDN16:single_exon:E4 0.250000 192 CLDN16:exon_block:E1-E5 0.857143 2977 CLDN16:boundary_CDS_coverage:after_E1 0.750000 591 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN19 ENST00000296387.6 25 22 8 0 3 5 19 CLDN19:single_exon:E1 0.520000 396 CLDN19:exon_block:E1-E4 1.000000 799 CLDN19:boundary_CDS_coverage:after_E1 0.600000 449 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN2 ENST00000336803.2 1 1 0 0 0 2 4 CLDN2:single_exon:E2 1.000000 2811 CLDN2:exon_block:E1-E2 1.000000 2961 CLDN2:boundary_CDS_coverage:after_E1 1.000000 690 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN5 ENST00000618236.2 6 6 0 0 0 1 1 CLDN5:single_exon:E1 1.000000 1384 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLDN9 ENST00000445369.3 3 3 0 0 0 1 1 CLDN9:single_exon:E1 1.000000 1583 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLEC3B ENST00000296130.5 1 1 0 0 0 3 8 CLEC3B:single_exon:E3 1.000000 548 CLEC3B:exon_block:E2-E3 1.000000 647 CLEC3B:boundary_CDS_coverage:after_E2 1.000000 398 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLGN ENST00000325617.10 1 1 0 0 0 15 79 CLGN:single_exon:E9 1.000000 114 CLGN:exon_block:E9-E10 1.000000 265 CLGN:boundary_CDS_coverage:after_E8 1.000000 946 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLHC1 ENST00000401408.6 1 1 0 0 0 13 67 CLHC1:single_exon:E10 1.000000 175 CLHC1:exon_block:E9-E10 1.000000 282 CLHC1:boundary_CDS_coverage:after_E9 1.000000 752 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLIC4 ENST00000374379.9 1 1 0 0 0 6 25 CLIC4:single_exon:E3 1.000000 126 CLIC4:exon_block:E3-E4 1.000000 233 CLIC4:boundary_CDS_coverage:after_E2 1.000000 577 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLIC5 ENST00000339561.12 3 3 0 0 0 6 25 CLIC5:single_exon:E2 0.333333 110 CLIC5:exon_block:E2-E6 1.000000 5325 CLIC5:boundary_CDS_coverage:after_E1 1.000000 690 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLIP1 ENST00000620786.5 1 1 0 0 0 26 145 CLIP1:single_exon:E3 1.000000 572 CLIP1:exon_block:E3-E4 1.000000 697 CLIP1:boundary_CDS_coverage:after_E2 1.000000 4229 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLMP ENST00000448775.4 9 8 3 0 1 7 31 CLMP:single_exon:E5 0.222222 123 CLMP:exon_block:E1-E5 0.888889 987 CLMP:boundary_CDS_coverage:after_E1 0.888889 1091 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLN3 ENST00000636147.2 220 148 104 0 72 16 85 CLN3:single_exon:E14 0.113636 94 CLN3:exon_block:E6-E10 0.404545 496 CLN3:boundary_CDS_coverage:after_E1 1.000000 1314 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLN5 ENST00000377453.9 152 135 21 0 16 4 13 CLN5:single_exon:E4 0.440789 4660 CLN5:exon_block:E1-E4 0.980263 5243 CLN5:boundary_CDS_coverage:after_E1 0.855263 901 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLN6 ENST00000249806.11 119 97 38 1 21 7 31 CLN6:single_exon:E7 0.210084 1419 CLN6:exon_block:E3-E7 0.756303 1886 CLN6:boundary_CDS_coverage:after_E1 0.932773 850 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLN8 ENST00000331222.6 87 82 8 1 4 3 8 CLN8:single_exon:E2 0.666667 666 CLN8:exon_block:E2-E3 1.000000 6987 CLN8:boundary_CDS_coverage:after_E1 1.000000 858 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLP1 ENST00000533682.2 4 4 0 0 0 3 8 CLP1:single_exon:E2 0.750000 628 CLP1:exon_block:E2-E3 1.000000 1729 CLP1:boundary_CDS_coverage:after_E1 1.000000 1275 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLPB ENST00000538039.6 48 34 21 0 14 16 85 CLPB:single_exon:E10 0.125000 45 CLPB:exon_block:E6-E10 0.375000 392 CLPB:boundary_CDS_coverage:after_E1 0.916667 1628 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLPP ENST00000245816.11 22 17 7 0 4 6 25 CLPP:single_exon:E4 0.363636 188 CLPP:exon_block:E1-E5 0.954545 705 CLPP:boundary_CDS_coverage:after_E1 0.863636 633 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLPX ENST00000300107.7 1 1 1 0 0 14 73 CLPX:single_exon:E8 1.000000 165 CLPX:exon_block:E8-E9 1.000000 254 CLPX:boundary_CDS_coverage:after_E7 1.000000 1007 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLRN1 ENST00000327047.6 97 85 11 1 11 3 8 CLRN1:single_exon:E1 0.494845 272 CLRN1:exon_block:E1-E3 0.979381 2087 CLRN1:boundary_CDS_coverage:after_E1 0.525773 443 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLRN2 ENST00000511148.2 1 1 0 0 0 3 8 CLRN2:single_exon:E3 1.000000 288 CLRN2:exon_block:E2-E3 1.000000 468 CLRN2:boundary_CDS_coverage:after_E2 1.000000 263 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLTC ENST00000269122.8 123 100 33 0 22 32 181 CLTC:single_exon:E29 0.073171 171 CLTC:exon_block:E26-E30 0.227642 786 CLTC:boundary_CDS_coverage:after_E1 1.000000 4983 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLUAP1 ENST00000576634.6 1 1 0 0 0 12 61 CLUAP1:single_exon:E8 1.000000 142 CLUAP1:exon_block:E8-E9 1.000000 215 CLUAP1:boundary_CDS_coverage:after_E7 1.000000 526 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CLXN ENST00000262103.8 4 4 0 0 0 6 25 CLXN:single_exon:E3 0.250000 105 CLXN:exon_block:E1-E4 1.000000 588 CLXN:boundary_CDS_coverage:after_E1 0.750000 575 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CMPK2 ENST00000256722.10 3 3 0 0 0 5 19 CMPK2:single_exon:E1 0.666667 886 CMPK2:exon_block:E1-E5 1.000000 3095 CMPK2:boundary_CDS_coverage:after_E4 0.333333 121 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNGA1 ENST00000514170.7 83 76 19 0 7 11 55 CNGA1:single_exon:E11 0.554217 1853 CNGA1:exon_block:E7-E11 0.831325 2218 CNGA1:boundary_CDS_coverage:after_E1 1.000000 2058 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNGA3 ENST00000272602.7 224 217 22 0 7 8 37 CNGA3:single_exon:E8 0.691964 2758 CNGA3:exon_block:E4-E8 0.933036 3216 CNGA3:boundary_CDS_coverage:after_E1 1.000000 2082 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNGB1 ENST00000251102.13 181 126 74 0 55 33 187 CNGB1:single_exon:E26 0.093923 142 CNGB1:exon_block:E23-E27 0.243094 577 CNGB1:boundary_CDS_coverage:after_E1 1.000000 3753 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNGB3 ENST00000320005.6 271 193 106 0 78 18 97 CNGB3:single_exon:E6 0.099631 209 CNGB3:exon_block:E3-E7 0.317343 692 CNGB3:boundary_CDS_coverage:after_E1 0.952030 2298 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNKSR2 ENST00000379510.5 54 44 20 0 10 22 121 CNKSR2:single_exon:E18 0.129630 68 CNKSR2:exon_block:E16-E20 0.370370 862 CNKSR2:boundary_CDS_coverage:after_E1 0.981481 3038 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNN2 ENST00000263097.9 2 2 0 0 0 7 31 CNN2:single_exon:E7 1.000000 1441 CNN2:exon_block:E6-E7 1.000000 1588 CNN2:boundary_CDS_coverage:after_E6 1.000000 273 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNNM2 ENST00000369878.9 39 37 1 2 0 8 37 CNNM2:single_exon:E1 0.717949 1808 CNNM2:exon_block:E1-E4 0.871795 2260 CNNM2:boundary_CDS_coverage:after_E1 0.282051 1004 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNNM4 ENST00000377075.3 49 44 7 0 5 7 31 CNNM4:single_exon:E1 0.591837 1500 CNNM4:exon_block:E1-E5 0.857143 2046 CNNM4:boundary_CDS_coverage:after_E1 0.408163 923 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNOT1 ENST00000317147.10 45 34 18 0 11 49 283 CNOT1:single_exon:E7 0.111111 204 CNOT1:exon_block:E3-E7 0.222222 535 CNOT1:boundary_CDS_coverage:after_E1 1.000000 7128 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNOT2 ENST00000229195.8 6 5 1 0 1 16 85 CNOT2:single_exon:E4 0.166667 67 CNOT2:exon_block:E3-E4 0.333333 190 CNOT2:boundary_CDS_coverage:after_E2 1.000000 1572 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNOT3 ENST00000221232.11 69 60 17 0 9 18 97 CNOT3:single_exon:E11 0.159420 388 CNOT3:exon_block:E11-E15 0.434783 1010 CNOT3:boundary_CDS_coverage:after_E1 1.000000 2259 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNOT9 ENST00000273064.11 4 4 0 0 0 8 37 CNOT9:single_exon:E7 0.250000 92 CNOT9:exon_block:E4-E8 0.750000 3384 CNOT9:boundary_CDS_coverage:after_E1 1.000000 873 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNP ENST00000393892.8 6 4 0 2 0 4 13 CNP:single_exon:E2 0.500000 673 CNP:exon_block:E1-E4 1.000000 5172 CNP:boundary_CDS_coverage:after_E1 0.666667 1260 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNPY2 ENST00000273308.9 1 1 0 0 0 6 25 CNPY2:single_exon:E2 1.000000 113 CNPY2:exon_block:E2-E3 1.000000 229 CNPY2:boundary_CDS_coverage:after_E1 1.000000 546 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNPY3 ENST00000372836.5 8 6 3 0 2 6 25 CNPY3:single_exon:E6 0.375000 727 CNPY3:exon_block:E3-E6 1.000000 1065 CNPY3:boundary_CDS_coverage:after_E2 1.000000 559 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNTN1 ENST00000551295.7 23 18 5 0 5 24 133 CNTN1:single_exon:E3 0.086957 33 CNTN1:exon_block:E19-E23 0.347826 796 CNTN1:boundary_CDS_coverage:after_E2 1.000000 2993 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNTN2 ENST00000331830.7 40 30 16 0 10 23 127 CNTN2:single_exon:E14 0.150000 121 CNTN2:exon_block:E14-E18 0.325000 736 CNTN2:boundary_CDS_coverage:after_E1 1.000000 3120 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNTN6 ENST00000446702.7 2 1 1 0 1 23 127 CNTN6:single_exon:E12 0.500000 128 CNTN6:exon_block:E11-E12 0.500000 279 CNTN6:boundary_CDS_coverage:after_E5 1.000000 2630 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNTNAP1 ENST00000264638.9 45 36 17 1 8 24 133 CNTNAP1:single_exon:E13 0.111111 204 CNTNAP1:exon_block:E11-E15 0.311111 716 CNTNAP1:boundary_CDS_coverage:after_E1 0.977778 4085 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CNTNAP2 ENST00000361727.8 99 83 30 0 16 24 133 CNTNAP2:single_exon:E5 0.090909 204 CNTNAP2:exon_block:E5-E9 0.282828 948 CNTNAP2:boundary_CDS_coverage:after_E1 0.979798 3896 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COA5 ENST00000328709.8 1 1 0 0 0 3 8 COA5:single_exon:E2 1.000000 84 COA5:exon_block:E1-E2 1.000000 290 COA5:boundary_CDS_coverage:after_E1 1.000000 123 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COA6 ENST00000366615.10 5 4 0 0 1 3 8 COA6:single_exon:E2 0.600000 160 COA6:exon_block:E2-E3 0.800000 1518 COA6:boundary_CDS_coverage:after_E1 1.000000 253 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COA7 ENST00000371538.5 9 7 3 0 2 3 8 COA7:single_exon:E3 0.555556 3720 COA7:exon_block:E1-E3 1.000000 3988 COA7:boundary_CDS_coverage:after_E1 0.777778 587 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COA8 ENST00000409074.8 15 13 6 0 2 5 19 COA8:single_exon:E2 0.400000 198 COA8:exon_block:E1-E4 1.000000 518 COA8:boundary_CDS_coverage:after_E1 0.800000 456 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COASY ENST00000393818.3 30 26 6 0 4 9 43 COASY:single_exon:E1 0.500000 1175 COASY:exon_block:E1-E4 0.700000 1712 COASY:boundary_CDS_coverage:after_E1 0.500000 992 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COCH ENST00000396618.9 35 35 1 0 0 12 61 COCH:single_exon:E5 0.314286 134 COCH:exon_block:E8-E12 0.542857 1999 COCH:boundary_CDS_coverage:after_E3 1.000000 1568 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COG1 ENST00000299886.9 20 18 4 0 2 14 73 COG1:single_exon:E12 0.250000 110 COG1:exon_block:E5-E8 0.550000 1307 COG1:boundary_CDS_coverage:after_E1 0.900000 2625 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COG2 ENST00000366669.9 7 7 0 0 0 18 97 COG2:single_exon:E3 0.142857 66 COG2:exon_block:E3-E6 0.428571 360 COG2:boundary_CDS_coverage:after_E2 0.857143 1980 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COG4 ENST00000323786.10 32 26 10 0 6 19 103 COG4:single_exon:E12 0.125000 166 COG4:exon_block:E3-E7 0.375000 748 COG4:boundary_CDS_coverage:after_E3 0.906250 1998 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COG5 ENST00000297135.9 66 49 20 0 16 22 121 COG5:single_exon:E12 0.121212 205 COG5:exon_block:E6-E10 0.303030 609 COG5:boundary_CDS_coverage:after_E1 0.924242 2393 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COG6 ENST00000455146.8 34 24 14 0 10 19 103 COG6:single_exon:E2 0.117647 144 COG6:exon_block:E5-E9 0.352941 489 COG6:boundary_CDS_coverage:after_E1 0.970588 1818 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COG7 ENST00000307149.10 28 21 11 0 7 17 91 COG7:single_exon:E1 0.142857 364 COG7:exon_block:E10-E14 0.428571 595 COG7:boundary_CDS_coverage:after_E1 0.892857 2141 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COG8 ENST00000306875.10 17 13 5 0 4 6 24 COG8:single_exon:E3 0.352941 828 COG8:exon_block:E1-E5 1.000000 1877 COG8:boundary_CDS_coverage:after_E1 0.941176 1459 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL10A1 ENST00000651968.1 78 78 0 0 0 3 8 COL10A1:single_exon:E3 0.948718 3053 COL10A1:exon_block:E2-E3 1.000000 3222 COL10A1:boundary_CDS_coverage:after_E1 1.000000 2040 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL11A1 ENST00000370096.9 248 125 167 0 123 67 391 COL11A1:single_exon:E37 0.036290 54 COL11A1:exon_block:E46-E50 0.125000 324 COL11A1:boundary_CDS_coverage:after_E1 1.000000 5312 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL11A2 ENST00000341947.7 197 148 78 0 49 66 385 COL11A2:single_exon:E42 0.040609 108 COL11A2:exon_block:E2-E6 0.167513 794 COL11A2:boundary_CDS_coverage:after_E1 0.989848 5126 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL12A1 ENST00000322507.13 132 89 62 0 43 66 385 COL12A1:single_exon:E56 0.098485 96 COL12A1:exon_block:E52-E56 0.219697 465 COL12A1:boundary_CDS_coverage:after_E1 1.000000 9189 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL13A1 ENST00000645393.2 44 22 29 0 22 41 234 COL13A1:single_exon:E23 0.090909 87 COL13A1:exon_block:E22-E25 0.204545 240 COL13A1:boundary_CDS_coverage:after_E1 0.931818 1890 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL17A1 ENST00000648076.2 180 123 93 0 57 56 325 COL17A1:single_exon:E52 0.127778 390 COL17A1:exon_block:E48-E52 0.244444 879 COL17A1:boundary_CDS_coverage:after_E1 1.000000 4491 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL18A1 ENST00000651438.1 214 164 68 0 50 42 241 COL18A1:single_exon:E35 0.088785 145 COL18A1:exon_block:E35-E39 0.261682 627 COL18A1:boundary_CDS_coverage:after_E1 0.995327 4006 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL1A1 ENST00000225964.10 1430 1147 631 0 283 51 295 COL1A1:single_exon:E48 0.042657 283 COL1A1:exon_block:E47-E51 0.146154 2373 COL1A1:boundary_CDS_coverage:after_E1 0.985315 4289 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL1A2 ENST00000297268.11 722 630 337 0 92 52 301 COL1A2:single_exon:E17 0.042936 99 COL1A2:exon_block:E37-E41 0.149584 486 COL1A2:boundary_CDS_coverage:after_E1 1.000000 4028 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL25A1 ENST00000399132.6 9 7 5 0 2 38 216 COL25A1:single_exon:E10 0.222222 108 COL25A1:exon_block:E15-E17 0.222222 105 COL25A1:boundary_CDS_coverage:after_E3 1.000000 1595 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL27A1 ENST00000356083.8 158 93 82 0 65 61 355 COL27A1:single_exon:E3 0.164557 1775 COL27A1:exon_block:E1-E5 0.234177 2430 COL27A1:boundary_CDS_coverage:after_E1 0.993671 5518 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL2A1 ENST00000380518.8 1101 888 487 0 213 54 313 COL2A1:single_exon:E42 0.042688 162 COL2A1:exon_block:E49-E53 0.151680 882 COL2A1:boundary_CDS_coverage:after_E1 0.994550 4376 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL3A1 ENST00000304636.9 937 754 436 1 182 51 295 COL3A1:single_exon:E30 0.048026 99 COL3A1:exon_block:E39-E43 0.148346 540 COL3A1:boundary_CDS_coverage:after_E1 0.997866 4319 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL4A1 ENST00000375820.10 396 341 141 4 51 52 301 COL4A1:single_exon:E42 0.053030 186 COL4A1:exon_block:E29-E33 0.196970 621 COL4A1:boundary_CDS_coverage:after_E1 0.989899 4923 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL4A2 ENST00000360467.7 84 67 37 0 17 48 277 COL4A2:single_exon:E44 0.071429 147 COL4A2:exon_block:E35-E39 0.190476 427 COL4A2:boundary_CDS_coverage:after_E4 1.000000 4956 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL4A3 ENST00000396578.8 855 693 342 0 162 52 301 COL4A3:single_exon:E26 0.039766 169 COL4A3:exon_block:E25-E29 0.136842 648 COL4A3:boundary_CDS_coverage:after_E1 0.988304 4923 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL4A4 ENST00000396625.5 860 703 315 0 156 48 277 COL4A4:single_exon:E25 0.048837 184 COL4A4:exon_block:E28-E32 0.160465 804 COL4A4:boundary_CDS_coverage:after_E1 0.998837 5070 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL4A5 ENST00000328300.11 1369 1151 498 0 218 53 307 COL4A5:single_exon:E25 0.041636 169 COL4A5:exon_block:E24-E28 0.138787 657 COL4A5:boundary_CDS_coverage:after_E1 0.991234 4992 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL4A6 ENST00000334504.12 4 3 2 1 0 45 259 COL4A6:single_exon:E8 0.250000 36 COL4A6:exon_block:E8-E9 0.250000 99 COL4A6:boundary_CDS_coverage:after_E7 1.000000 4560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL5A1 ENST00000371817.8 361 278 148 0 83 66 385 COL5A1:single_exon:E65 0.055402 234 COL5A1:exon_block:E62-E66 0.149584 3359 COL5A1:boundary_CDS_coverage:after_E1 0.975069 5405 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL5A2 ENST00000374866.9 62 35 39 0 27 54 313 COL5A2:single_exon:E29 0.080645 54 COL5A2:exon_block:E28-E32 0.161290 261 COL5A2:boundary_CDS_coverage:after_E1 1.000000 4400 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL6A1 ENST00000361866.8 194 122 116 0 72 35 199 COL6A1:single_exon:E14 0.123711 54 COL6A1:exon_block:E10-E14 0.402062 198 COL6A1:boundary_CDS_coverage:after_E1 0.979381 2987 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL6A2 ENST00000300527.9 262 173 141 0 89 28 157 COL6A2:single_exon:E26 0.114504 453 COL6A2:exon_block:E5-E9 0.320611 219 COL6A2:boundary_CDS_coverage:after_E1 1.000000 3057 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL6A3 ENST00000295550.9 205 152 80 0 53 44 253 COL6A3:single_exon:E16 0.078049 54 COL6A3:exon_block:E15-E19 0.297561 291 COL6A3:boundary_CDS_coverage:after_E1 1.000000 9531 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL6A6 ENST00000358511.11 1 0 1 0 1 37 211 COL6A6:single_exon:E11 1.000000 155 COL6A6:exon_block:E10-E11 1.000000 234 COL6A6:boundary_CDS_coverage:after_E10 1.000000 2819 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL7A1 ENST00000681320.1 1079 795 597 0 282 119 703 COL7A1:single_exon:E74 0.051900 201 COL7A1:exon_block:E73-E77 0.110287 492 COL7A1:boundary_CDS_coverage:after_E1 0.998146 8832 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL8A2 ENST00000397799.2 3 3 0 0 0 4 13 COL8A2:single_exon:E4 1.000000 4249 COL8A2:exon_block:E3-E4 1.000000 4458 COL8A2:boundary_CDS_coverage:after_E3 1.000000 1916 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL9A1 ENST00000357250.11 100 68 54 0 32 38 217 COL9A1:single_exon:E5 0.100000 397 COL9A1:exon_block:E5-E9 0.280000 613 COL9A1:boundary_CDS_coverage:after_E1 0.990000 2749 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL9A2 ENST00000372748.8 60 47 29 0 13 32 181 COL9A2:single_exon:E3 0.116667 36 COL9A2:exon_block:E2-E6 0.250000 264 COL9A2:boundary_CDS_coverage:after_E1 1.000000 1992 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COL9A3 ENST00000649368.1 54 43 26 0 11 32 181 COL9A3:single_exon:E3 0.166667 36 COL9A3:exon_block:E1-E5 0.277778 324 COL9A3:boundary_CDS_coverage:after_E1 0.962963 1974 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COLEC10 ENST00000332843.3 6 5 2 0 1 6 25 COLEC10:single_exon:E1 0.333333 183 COLEC10:exon_block:E1-E5 0.833333 477 COLEC10:boundary_CDS_coverage:after_E2 0.666667 611 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COLEC11 ENST00000349077.9 6 6 0 0 0 7 31 COLEC11:single_exon:E7 0.500000 918 COLEC11:exon_block:E4-E7 0.666667 1140 COLEC11:boundary_CDS_coverage:after_E1 1.000000 813 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COLGALT1 ENST00000252599.9 7 7 1 0 0 12 61 COLGALT1:single_exon:E8 0.285714 107 COLGALT1:exon_block:E1-E4 0.714286 689 COLGALT1:boundary_CDS_coverage:after_E2 0.714286 1495 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COLQ ENST00000383788.10 115 86 45 0 29 17 91 COLQ:single_exon:E16 0.156522 103 COLQ:exon_block:E12-E16 0.513043 581 COLQ:boundary_CDS_coverage:after_E1 0.947826 1259 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COMP ENST00000222271.7 170 168 35 0 2 19 103 COMP:single_exon:E13 0.300000 182 COMP:exon_block:E10-E14 0.752941 693 COMP:boundary_CDS_coverage:after_E2 1.000000 2106 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COMT ENST00000361682.11 1 1 0 0 0 6 25 COMT:single_exon:E5 1.000000 132 COMT:exon_block:E4-E5 1.000000 326 COMT:boundary_CDS_coverage:after_E4 1.000000 330 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COPA ENST00000241704.8 8 8 3 0 0 33 187 COPA:single_exon:E9 0.500000 136 COPA:exon_block:E8-E9 0.750000 236 COPA:boundary_CDS_coverage:after_E7 1.000000 3066 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COPB1 ENST00000439561.7 3 2 1 0 1 22 121 COPB1:single_exon:E8 0.333333 120 COPB1:exon_block:E14-E16 0.666667 529 COPB1:boundary_CDS_coverage:after_E8 1.000000 1902 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COPB2 ENST00000333188.10 9 7 5 0 2 22 121 COPB2:single_exon:E11 0.222222 89 COPB2:exon_block:E11-E14 0.555556 471 COPB2:boundary_CDS_coverage:after_E2 1.000000 2577 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COQ2 ENST00000647002.2 40 30 14 2 7 7 31 COQ2:single_exon:E1 0.250000 287 COQ2:exon_block:E1-E5 0.825000 796 COQ2:boundary_CDS_coverage:after_E1 0.750000 860 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COQ4 ENST00000300452.8 42 33 18 0 9 7 31 COQ4:single_exon:E1 0.190476 90 COQ4:exon_block:E1-E5 0.833333 552 COQ4:boundary_CDS_coverage:after_E1 0.880952 725 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COQ5 ENST00000288532.11 2 1 0 0 0 7 31 COQ5:single_exon:E1 0.500000 219 COQ5:exon_block:E1-E2 0.500000 369 COQ5:boundary_CDS_coverage:after_E6 0.500000 99 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COQ6 ENST00000334571.7 29 26 8 0 3 12 61 COQ6:single_exon:E9 0.206897 203 COQ6:exon_block:E5-E9 0.551724 613 COQ6:boundary_CDS_coverage:after_E1 0.896552 1241 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COQ7 ENST00000321998.10 12 11 1 0 1 6 25 COQ7:single_exon:E3 0.250000 115 COQ7:exon_block:E1-E4 0.750000 558 COQ7:boundary_CDS_coverage:after_E2 0.750000 399 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COQ8A ENST00000366777.4 106 88 29 1 17 15 79 COQ8A:single_exon:E15 0.141509 1092 COQ8A:exon_block:E3-E7 0.386792 762 COQ8A:boundary_CDS_coverage:after_E1 1.000000 1941 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COQ8B ENST00000324464.8 36 26 14 0 10 15 79 COQ8B:single_exon:E10 0.138889 94 COQ8B:exon_block:E9-E13 0.444444 492 COQ8B:boundary_CDS_coverage:after_E1 1.000000 1632 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COQ9 ENST00000262507.11 24 15 11 0 9 9 43 COQ9:single_exon:E2 0.333333 169 COQ9:exon_block:E2-E6 0.833333 638 COQ9:boundary_CDS_coverage:after_E1 0.958333 881 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CORIN ENST00000273857.9 4 4 0 0 0 22 121 CORIN:single_exon:E7 0.250000 108 CORIN:exon_block:E5-E7 0.500000 404 CORIN:boundary_CDS_coverage:after_E4 1.000000 2509 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CORO1A ENST00000219150.10 17 15 8 0 2 11 55 CORO1A:single_exon:E6 0.176471 120 CORO1A:exon_block:E6-E10 0.588235 645 CORO1A:boundary_CDS_coverage:after_E1 1.000000 1383 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX10 ENST00000261643.8 15 12 5 0 3 7 31 COX10:single_exon:E5 0.200000 71 COX10:exon_block:E3-E7 0.866667 2619 COX10:boundary_CDS_coverage:after_E2 0.933333 1152 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX11 ENST00000299335.8 4 4 0 0 0 4 13 COX11:single_exon:E4 0.750000 2494 COX11:exon_block:E1-E4 1.000000 3150 COX11:boundary_CDS_coverage:after_E3 0.750000 180 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX14 ENST00000550487.6 2 2 0 0 0 2 4 COX14:single_exon:E2 1.000000 418 COX14:exon_block:E1-E2 1.000000 484 COX14:boundary_CDS_coverage:after_E1 1.000000 171 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX15 ENST00000016171.6 44 30 19 0 14 9 43 COX15:single_exon:E5 0.227273 168 COX15:exon_block:E3-E7 0.772727 715 COX15:boundary_CDS_coverage:after_E1 0.977273 1140 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX16 ENST00000389912.7 1 1 0 0 0 4 13 COX16:single_exon:E4 1.000000 1369 COX16:exon_block:E3-E4 1.000000 1432 COX16:boundary_CDS_coverage:after_E3 1.000000 114 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX18 ENST00000507544.3 3 2 2 0 1 6 25 COX18:single_exon:E3 0.333333 164 COX18:exon_block:E1-E3 0.666667 665 COX18:boundary_CDS_coverage:after_E2 0.666667 568 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX20 ENST00000411948.7 15 9 10 0 6 4 13 COX20:single_exon:E2 0.533333 115 COX20:exon_block:E1-E4 1.000000 2295 COX20:boundary_CDS_coverage:after_E1 0.866667 312 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX4I1 ENST00000253452.8 2 2 0 0 0 5 19 COX4I1:single_exon:E4 0.500000 132 COX4I1:exon_block:E4-E5 1.000000 463 COX4I1:boundary_CDS_coverage:after_E3 1.000000 266 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX5A ENST00000322347.11 2 2 0 0 0 5 18 COX5A:single_exon:E3 1.000000 122 COX5A:exon_block:E2-E3 1.000000 239 COX5A:boundary_CDS_coverage:after_E2 1.000000 233 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX6A1 ENST00000229379.3 1 0 0 0 1 3 8 COX6A1:single_exon:E1 0.000000 117 COX6A1:exon_block:E1-E2 0.000000 260 COX6A1:boundary_CDS_coverage:after_E2 1.000000 81 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX6A2 ENST00000287490.5 1 1 0 0 0 3 8 COX6A2:single_exon:E2 1.000000 137 COX6A2:exon_block:E1-E2 1.000000 245 COX6A2:boundary_CDS_coverage:after_E1 1.000000 218 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX6B1 ENST00000649813.2 2 2 0 0 0 4 13 COX6B1:single_exon:E2 1.000000 117 COX6B1:exon_block:E1-E2 1.000000 198 COX6B1:boundary_CDS_coverage:after_E1 1.000000 258 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX7B ENST00000650309.2 4 2 2 0 2 3 8 COX7B:single_exon:E2 0.500000 125 COX7B:exon_block:E1-E3 1.000000 2444 COX7B:boundary_CDS_coverage:after_E1 1.000000 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COX8A ENST00000314133.4 1 0 1 0 1 2 4 COX8A:single_exon:E2 1.000000 319 COX8A:exon_block:E1-E2 1.000000 494 COX8A:boundary_CDS_coverage:after_E1 1.000000 93 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true COXFA4 ENST00000339600.6 4 1 3 0 3 4 13 COXFA4:single_exon:E1 0.750000 138 COXFA4:exon_block:E1-E2 1.000000 227 COXFA4:boundary_CDS_coverage:after_E1 0.750000 201 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CP ENST00000264613.11 156 77 29 0 20 19 103 CP:single_exon:E12 0.083333 208 CP:exon_block:E10-E14 0.217949 841 CP:boundary_CDS_coverage:after_E1 0.993590 3049 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPA1 ENST00000011292.8 3 3 0 0 0 10 49 CPA1:single_exon:E7 0.333333 91 CPA1:exon_block:E7-E10 1.000000 661 CPA1:boundary_CDS_coverage:after_E6 1.000000 561 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPA6 ENST00000297770.10 4 4 2 0 0 11 55 CPA6:single_exon:E3 0.500000 125 CPA6:exon_block:E3-E6 1.000000 444 CPA6:boundary_CDS_coverage:after_E2 1.000000 1119 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPAMD8 ENST00000443236.7 27 18 11 1 8 42 241 CPAMD8:single_exon:E17 0.148148 162 CPAMD8:exon_block:E15-E19 0.370370 691 CPAMD8:boundary_CDS_coverage:after_E1 0.962963 5563 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPAP ENST00000381884.9 80 74 9 0 6 17 91 CPAP:single_exon:E7 0.325000 1615 CPAP:exon_block:E7-E11 0.487500 2224 CPAP:boundary_CDS_coverage:after_E1 1.000000 4014 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPE ENST00000402744.9 8 8 1 0 0 9 43 CPE:single_exon:E7 0.250000 100 CPE:exon_block:E1-E4 0.625000 1004 CPE:boundary_CDS_coverage:after_E1 0.750000 1121 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPLANE1 ENST00000651892.2 343 278 91 0 65 53 307 CPLANE1:single_exon:E12 0.069971 770 CPLANE1:exon_block:E12-E16 0.163265 1399 CPLANE1:boundary_CDS_coverage:after_E1 1.000000 9753 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPLX1 ENST00000304062.11 3 3 0 0 0 4 13 CPLX1:single_exon:E4 0.666667 1742 CPLX1:exon_block:E3-E4 1.000000 1918 CPLX1:boundary_CDS_coverage:after_E2 1.000000 371 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPN1 ENST00000370418.8 2 2 0 0 0 9 43 CPN1:single_exon:E4 0.500000 183 CPN1:exon_block:E1-E4 1.000000 1003 CPN1:boundary_CDS_coverage:after_E3 0.500000 798 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPNE1 ENST00000397443.7 2 0 0 0 2 16 85 CPNE1:single_exon:E13 0.000000 52 CPNE1:exon_block:E12-E13 0.000000 107 CPNE1:boundary_CDS_coverage:after_E1 1.000000 1611 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPOX ENST00000647941.2 40 36 9 0 4 7 31 CPOX:single_exon:E1 0.275000 663 CPOX:exon_block:E1-E5 0.875000 1279 CPOX:boundary_CDS_coverage:after_E1 0.725000 806 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPS1 ENST00000233072.10 400 309 136 0 91 38 217 CPS1:single_exon:E20 0.075000 177 CPS1:exon_block:E16-E20 0.242500 861 CPS1:boundary_CDS_coverage:after_E1 0.985000 4374 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPSF1 ENST00000616140.2 8 6 2 0 2 38 217 CPSF1:single_exon:E34 0.125000 48 CPSF1:exon_block:E17-E21 0.375000 662 CPSF1:boundary_CDS_coverage:after_E6 1.000000 3790 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPSF3 ENST00000238112.8 2 1 2 0 1 18 97 CPSF3:single_exon:E12 0.500000 109 CPSF3:exon_block:E8-E12 1.000000 744 CPSF3:boundary_CDS_coverage:after_E7 1.000000 1292 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPT1A ENST00000265641.10 183 146 59 0 37 19 103 CPT1A:single_exon:E16 0.087432 153 CPT1A:exon_block:E10-E14 0.360656 773 CPT1A:boundary_CDS_coverage:after_E1 1.000000 2319 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPT1C ENST00000598293.6 16 13 5 0 3 20 109 CPT1C:single_exon:E11 0.187500 196 CPT1C:exon_block:E7-E11 0.437500 605 CPT1C:boundary_CDS_coverage:after_E1 1.000000 2409 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPT2 ENST00000371486.4 225 216 20 0 9 5 19 CPT2:single_exon:E4 0.635556 1305 CPT2:exon_block:E1-E5 1.000000 2699 CPT2:boundary_CDS_coverage:after_E1 0.897778 1822 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CPZ ENST00000360986.9 1 1 1 0 0 11 55 CPZ:single_exon:E3 1.000000 375 CPZ:exon_block:E2-E3 1.000000 408 CPZ:boundary_CDS_coverage:after_E2 1.000000 1835 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CR2 ENST00000367057.8 62 52 16 0 10 20 108 CR2:single_exon:E6 0.145161 408 CR2:exon_block:E2-E6 0.387097 1167 CR2:boundary_CDS_coverage:after_E1 0.967742 3218 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRADD ENST00000332896.8 8 7 2 0 1 3 8 CRADD:single_exon:E2 0.500000 304 CRADD:exon_block:E2-E3 0.875000 1091 CRADD:boundary_CDS_coverage:after_E1 1.000000 597 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRB1 ENST00000367400.8 574 523 99 0 51 12 61 CRB1:single_exon:E9 0.200348 907 CRB1:exon_block:E5-E9 0.656794 2761 CRB1:boundary_CDS_coverage:after_E1 0.986063 4148 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRB2 ENST00000373631.8 43 41 5 0 2 13 67 CRB2:single_exon:E10 0.302326 787 CRB2:exon_block:E6-E10 0.720930 2449 CRB2:boundary_CDS_coverage:after_E1 0.976744 3761 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRBN ENST00000231948.9 12 11 1 0 1 11 55 CRBN:single_exon:E7 0.250000 85 CRBN:exon_block:E4-E8 0.583333 574 CRBN:boundary_CDS_coverage:after_E1 1.000000 1259 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CREB3 ENST00000353704.3 1 0 0 0 0 9 43 CREB3:single_exon:E3 0.000000 68 CREB3:exon_block:E6-E7 0.000000 154 CREB3:boundary_CDS_coverage:after_E8 1.000000 332 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CREB3L1 ENST00000621158.5 15 12 5 0 3 12 61 CREB3L1:single_exon:E7 0.133333 59 CREB3L1:exon_block:E6-E10 0.533333 505 CREB3L1:boundary_CDS_coverage:after_E2 0.933333 1226 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CREB3L3 ENST00000078445.7 18 15 7 0 3 10 49 CREB3L3:single_exon:E5 0.333333 138 CREB3L3:exon_block:E2-E6 0.944444 794 CREB3L3:boundary_CDS_coverage:after_E1 1.000000 1356 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CREBBP ENST00000262367.10 514 441 117 1 72 31 175 CREBBP:single_exon:E31 0.225681 4821 CREBBP:exon_block:E27-E31 0.377432 5599 CREBBP:boundary_CDS_coverage:after_E1 0.984436 7241 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CREBL2 ENST00000228865.3 1 1 0 0 0 4 13 CREBL2:single_exon:E2 1.000000 198 CREBL2:exon_block:E2-E3 1.000000 343 CREBL2:boundary_CDS_coverage:after_E1 1.000000 345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRELD1 ENST00000452070.6 14 10 4 0 4 11 55 CRELD1:single_exon:E3 0.214286 83 CRELD1:exon_block:E5-E9 0.571429 545 CRELD1:boundary_CDS_coverage:after_E2 1.000000 1086 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRIPT ENST00000238892.4 11 8 5 0 2 5 19 CRIPT:single_exon:E3 0.363636 55 CRIPT:exon_block:E1-E4 0.909091 309 CRIPT:boundary_CDS_coverage:after_E2 0.727273 221 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRLF1 ENST00000392386.8 32 29 6 0 3 9 43 CRLF1:single_exon:E5 0.406250 158 CRLF1:exon_block:E2-E6 0.812500 909 CRLF1:boundary_CDS_coverage:after_E1 0.875000 1151 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRLS1 ENST00000378863.9 3 3 0 0 0 7 31 CRLS1:single_exon:E4 0.333333 86 CRLS1:exon_block:E2-E4 1.000000 354 CRLS1:boundary_CDS_coverage:after_E1 1.000000 597 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRMP1 ENST00000324989.12 1 1 0 0 0 14 73 CRMP1:single_exon:E12 1.000000 180 CRMP1:exon_block:E12-E13 1.000000 346 CRMP1:boundary_CDS_coverage:after_E11 1.000000 435 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRNKL1 ENST00000536226.2 3 3 0 0 0 14 73 CRNKL1:single_exon:E4 1.000000 159 CRNKL1:exon_block:E3-E4 1.000000 251 CRNKL1:boundary_CDS_coverage:after_E3 1.000000 1765 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRPPA ENST00000407010.7 57 43 20 0 14 10 49 CRPPA:single_exon:E1 0.228070 473 CRPPA:exon_block:E1-E5 0.684211 1051 CRPPA:boundary_CDS_coverage:after_E1 0.771930 1096 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRTAP ENST00000320954.11 66 56 11 0 10 7 31 CRTAP:single_exon:E1 0.621212 535 CRTAP:exon_block:E1-E5 0.969697 1132 CRTAP:boundary_CDS_coverage:after_E1 0.424242 732 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRX ENST00000221996.12 140 133 11 1 6 4 13 CRX:single_exon:E4 0.757143 4005 CRX:exon_block:E2-E4 1.000000 4292 CRX:boundary_CDS_coverage:after_E1 1.000000 897 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYAA ENST00000291554.6 11 11 0 0 0 3 8 CRYAA:single_exon:E1 0.545455 281 CRYAA:exon_block:E1-E3 1.000000 1139 CRYAA:boundary_CDS_coverage:after_E1 0.454545 330 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYAB ENST00000650687.2 18 16 2 2 0 3 8 CRYAB:single_exon:E1 0.500000 247 CRYAB:exon_block:E1-E3 1.000000 774 CRYAB:boundary_CDS_coverage:after_E2 0.500000 201 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYBA1 ENST00000225387.8 16 9 7 0 7 6 25 CRYBA1:single_exon:E6 0.375000 293 CRYBA1:exon_block:E2-E6 1.000000 762 CRYBA1:boundary_CDS_coverage:after_E2 1.000000 549 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYBA4 ENST00000354760.4 20 6 0 0 0 6 25 CRYBA4:single_exon:E4 0.300000 142 CRYBA4:exon_block:E3-E4 0.300000 261 CRYBA4:boundary_CDS_coverage:after_E3 0.300000 430 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYBB1 ENST00000647684.1 14 14 2 0 0 6 25 CRYBB1:single_exon:E6 0.428571 396 CRYBB1:exon_block:E2-E6 1.000000 990 CRYBB1:boundary_CDS_coverage:after_E1 1.000000 756 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYBB2 ENST00000398215.3 15 14 3 0 1 6 25 CRYBB2:single_exon:E6 0.533333 266 CRYBB2:exon_block:E2-E6 1.000000 741 CRYBB2:boundary_CDS_coverage:after_E2 1.000000 561 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYBB3 ENST00000215855.7 6 5 2 1 0 6 25 CRYBB3:single_exon:E5 0.500000 143 CRYBB3:exon_block:E5-E6 1.000000 456 CRYBB3:boundary_CDS_coverage:after_E4 1.000000 306 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYGB ENST00000260988.5 1 1 0 0 0 3 8 CRYGB:single_exon:E2 1.000000 243 CRYGB:exon_block:E1-E2 1.000000 290 CRYGB:boundary_CDS_coverage:after_E1 1.000000 516 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYGC ENST00000282141.4 24 24 1 0 0 3 8 CRYGC:single_exon:E3 0.875000 339 CRYGC:exon_block:E2-E3 1.000000 582 CRYGC:boundary_CDS_coverage:after_E1 1.000000 513 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYGD ENST00000264376.5 17 17 0 0 0 3 8 CRYGD:single_exon:E2 0.588235 243 CRYGD:exon_block:E2-E3 1.000000 582 CRYGD:boundary_CDS_coverage:after_E1 1.000000 513 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CRYGS ENST00000307944.6 7 7 2 0 0 3 8 CRYGS:single_exon:E2 1.000000 243 CRYGS:exon_block:E1-E2 1.000000 318 CRYGS:boundary_CDS_coverage:after_E1 1.000000 513 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSDE1 ENST00000358528.9 17 13 2 0 4 20 109 CSDE1:single_exon:E6 0.235294 98 CSDE1:exon_block:E6-E10 0.529412 648 CSDE1:boundary_CDS_coverage:after_E1 1.000000 2394 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSF1R ENST00000675795.1 81 72 21 0 9 21 115 CSF1R:single_exon:E17 0.222222 123 CSF1R:exon_block:E14-E18 0.555556 585 CSF1R:boundary_CDS_coverage:after_E1 1.000000 2867 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSF2RA ENST00000381529.9 22 19 9 0 3 13 67 CSF2RA:single_exon:E7 0.227273 173 CSF2RA:exon_block:E6-E10 0.727273 603 CSF2RA:boundary_CDS_coverage:after_E3 1.000000 1124 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSF2RB ENST00000403662.8 1 1 0 0 0 14 73 CSF2RB:single_exon:E6 1.000000 169 CSF2RB:exon_block:E6-E7 1.000000 305 CSF2RB:boundary_CDS_coverage:after_E5 1.000000 2142 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSF3R ENST00000373106.6 50 38 15 0 12 17 91 CSF3R:single_exon:E4 0.180000 297 CSF3R:exon_block:E7-E11 0.460000 801 CSF3R:boundary_CDS_coverage:after_E1 1.000000 2508 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSGALNACT1 ENST00000692225.2 16 15 2 0 1 9 43 CSGALNACT1:single_exon:E3 0.625000 930 CSGALNACT1:exon_block:E3-E6 0.875000 1428 CSGALNACT1:boundary_CDS_coverage:after_E1 1.000000 1596 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSMD1 ENST00000635120.2 2 2 0 0 0 70 409 CSMD1:single_exon:E7 0.500000 78 CSMD1:exon_block:E7-E8 0.500000 166 CSMD1:boundary_CDS_coverage:after_E6 1.000000 9761 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSNK1D ENST00000314028.11 2 2 0 0 0 9 43 CSNK1D:single_exon:E2 1.000000 111 CSNK1D:exon_block:E2-E3 1.000000 260 CSNK1D:boundary_CDS_coverage:after_E1 1.000000 1169 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSNK1E ENST00000396832.6 1 0 1 0 1 11 54 CSNK1E:single_exon:E7 1.000000 149 CSNK1E:exon_block:E6-E7 1.000000 320 CSNK1E:boundary_CDS_coverage:after_E7 1.000000 363 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSNK1G1 ENST00000303052.13 1 1 0 0 0 12 61 CSNK1G1:single_exon:E9 1.000000 149 CSNK1G1:exon_block:E8-E9 1.000000 234 CSNK1G1:boundary_CDS_coverage:after_E8 1.000000 416 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSNK2A1 ENST00000217244.9 78 70 14 0 8 14 73 CSNK2A1:single_exon:E4 0.230769 112 CSNK2A1:exon_block:E8-E12 0.500000 547 CSNK2A1:boundary_CDS_coverage:after_E1 1.000000 1173 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSNK2B ENST00000375882.7 100 72 38 0 28 7 31 CSNK2B:single_exon:E3 0.210000 103 CSNK2B:exon_block:E2-E6 0.920000 568 CSNK2B:boundary_CDS_coverage:after_E1 1.000000 645 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSPP1 ENST00000678616.1 117 87 39 3 27 31 175 CSPP1:single_exon:E20 0.111111 150 CSPP1:exon_block:E17-E21 0.282051 711 CSPP1:boundary_CDS_coverage:after_E1 0.974359 3678 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSRP3 ENST00000265968.9 36 30 9 0 6 6 25 CSRP3:single_exon:E2 0.333333 140 CSRP3:exon_block:E2-E5 1.000000 536 CSRP3:boundary_CDS_coverage:after_E1 1.000000 582 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CST3 ENST00000376925.8 1 1 0 0 0 3 8 CST3:single_exon:E2 1.000000 114 CST3:exon_block:E1-E2 1.000000 450 CST3:boundary_CDS_coverage:after_E1 1.000000 195 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CST6 ENST00000312134.3 1 1 1 0 0 3 8 CST6:single_exon:E2 1.000000 126 CST6:exon_block:E2-E3 1.000000 315 CST6:boundary_CDS_coverage:after_E1 1.000000 207 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSTA ENST00000264474.4 7 6 3 0 1 3 8 CSTA:single_exon:E2 0.428571 102 CSTA:exon_block:E1-E3 1.000000 744 CSTA:boundary_CDS_coverage:after_E1 0.857143 228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSTB ENST00000291568.7 20 17 7 0 3 3 8 CSTB:single_exon:E2 0.400000 102 CSTB:exon_block:E1-E3 1.000000 588 CSTB:boundary_CDS_coverage:after_E1 0.750000 228 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CSTF2 ENST00000372972.7 1 1 0 0 0 14 72 CSTF2:single_exon:E3 1.000000 170 CSTF2:exon_block:E2-E3 1.000000 249 CSTF2:boundary_CDS_coverage:after_E2 1.000000 1594 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CT55 ENST00000276241.11 1 1 0 0 0 6 25 CT55:single_exon:E4 1.000000 113 CT55:exon_block:E3-E4 1.000000 258 CT55:boundary_CDS_coverage:after_E3 1.000000 368 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTBP1 ENST00000382952.8 2 2 1 0 0 10 49 CTBP1:single_exon:E9 0.500000 118 CTBP1:exon_block:E8-E9 0.500000 246 CTBP1:boundary_CDS_coverage:after_E2 1.000000 1280 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTBP2 ENST00000337195.11 3 3 1 0 0 11 55 CTBP2:single_exon:E5 0.333333 145 CTBP2:exon_block:E5-E7 1.000000 567 CTBP2:boundary_CDS_coverage:after_E4 1.000000 1122 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTC1 ENST00000651323.1 136 117 36 0 19 23 127 CTC1:single_exon:E6 0.095588 285 CTC1:exon_block:E2-E6 0.316176 1044 CTC1:boundary_CDS_coverage:after_E1 0.970588 3618 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTCF ENST00000264010.10 90 80 18 1 9 12 61 CTCF:single_exon:E3 0.222222 790 CTCF:exon_block:E3-E7 0.733333 1366 CTCF:boundary_CDS_coverage:after_E1 1.000000 2181 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTDP1 ENST00000613122.5 1 0 0 0 1 13 67 CTDP1:single_exon:E2 0.000000 84 CTDP1:exon_block:E2-E3 0.000000 178 CTDP1:boundary_CDS_coverage:after_E6 1.000000 2020 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTH ENST00000370938.8 4 4 2 0 0 12 61 CTH:single_exon:E8 0.500000 153 CTH:exon_block:E7-E11 1.000000 545 CTH:boundary_CDS_coverage:after_E6 1.000000 569 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTHRC1 ENST00000330295.10 1 1 0 0 0 4 13 CTHRC1:single_exon:E1 1.000000 269 CTHRC1:exon_block:E1-E2 1.000000 491 CTHRC1:boundary_CDS_coverage:after_E3 0.000000 140 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTLA4 ENST00000648405.2 62 55 11 0 7 4 13 CTLA4:single_exon:E2 0.693548 348 CTLA4:exon_block:E1-E3 1.000000 739 CTLA4:boundary_CDS_coverage:after_E1 0.838710 560 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTNNA1 ENST00000302763.12 233 203 60 0 30 18 97 CTNNA1:single_exon:E7 0.111588 204 CTNNA1:exon_block:E3-E7 0.416309 957 CTNNA1:boundary_CDS_coverage:after_E1 1.000000 2718 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTNNA2 ENST00000402739.9 8 7 1 0 1 19 103 CTNNA2:single_exon:E10 0.125000 93 CTNNA2:exon_block:E10-E14 0.375000 717 CTNNA2:boundary_CDS_coverage:after_E2 1.000000 2757 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTNNA3 ENST00000433211.7 5 4 1 0 1 18 97 CTNNA3:single_exon:E3 0.400000 193 CTNNA3:exon_block:E15-E18 0.600000 8518 CTNNA3:boundary_CDS_coverage:after_E2 1.000000 2586 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTNNB1 ENST00000349496.11 246 212 63 0 34 15 79 CTNNB1:single_exon:E9 0.150407 339 CTNNB1:exon_block:E5-E9 0.471545 1029 CTNNB1:boundary_CDS_coverage:after_E2 1.000000 2330 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTNND1 ENST00000399050.10 37 33 8 0 4 21 115 CTNND1:single_exon:E7 0.216216 464 CTNND1:exon_block:E6-E10 0.594595 1456 CTNND1:boundary_CDS_coverage:after_E5 1.000000 2484 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTNND2 ENST00000304623.13 11 10 2 0 1 22 121 CTNND2:single_exon:E10 0.272727 133 CTNND2:exon_block:E6-E10 0.727273 1322 CTNND2:boundary_CDS_coverage:after_E1 1.000000 3638 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTNS ENST00000046640.9 195 138 78 1 54 12 61 CTNS:single_exon:E10 0.138462 171 CTNS:exon_block:E7-E11 0.574359 641 CTNS:boundary_CDS_coverage:after_E1 0.989744 1101 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTPS1 ENST00000650070.2 1 0 1 0 1 19 102 CTPS1:single_exon:E18 1.000000 94 CTPS1:exon_block:E17-E18 1.000000 239 CTPS1:boundary_CDS_coverage:after_E17 1.000000 82 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTR9 ENST00000361367.7 17 15 7 0 2 25 139 CTR9:single_exon:E2 0.529412 99 CTR9:exon_block:E1-E3 0.705882 551 CTR9:boundary_CDS_coverage:after_E1 0.882353 3474 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTRC ENST00000375949.5 17 15 3 0 2 8 37 CTRC:single_exon:E6 0.235294 146 CTRC:exon_block:E2-E6 0.823529 599 CTRC:boundary_CDS_coverage:after_E1 0.941176 764 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTSA ENST00000646241.3 80 64 26 0 16 15 79 CTSA:single_exon:E2 0.162500 194 CTSA:exon_block:E2-E6 0.450000 600 CTSA:boundary_CDS_coverage:after_E1 1.000000 1440 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTSC ENST00000227266.10 85 75 18 1 9 7 31 CTSC:single_exon:E7 0.247059 917 CTSC:exon_block:E3-E7 0.823529 1488 CTSC:boundary_CDS_coverage:after_E1 0.905882 1217 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTSD ENST00000236671.7 52 38 17 0 14 9 43 CTSD:single_exon:E7 0.192308 145 CTSD:exon_block:E3-E7 0.653846 744 CTSD:boundary_CDS_coverage:after_E1 0.961538 1168 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTSF ENST00000310325.10 37 30 15 0 7 13 67 CTSF:single_exon:E8 0.135135 81 CTSF:exon_block:E4-E8 0.459459 514 CTSF:boundary_CDS_coverage:after_E1 0.918919 1239 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTSK ENST00000271651.8 133 111 39 1 21 8 37 CTSK:single_exon:E5 0.248120 219 CTSK:exon_block:E2-E6 0.796992 785 CTSK:boundary_CDS_coverage:after_E1 1.000000 987 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CTU2 ENST00000453996.7 8 5 6 0 3 15 79 CTU2:single_exon:E14 0.125000 59 CTU2:exon_block:E4-E8 0.500000 651 CTU2:boundary_CDS_coverage:after_E4 1.000000 1263 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CUBN ENST00000377833.10 206 156 83 0 50 67 391 CUBN:single_exon:E46 0.058252 210 CUBN:exon_block:E42-E46 0.126214 939 CUBN:boundary_CDS_coverage:after_E1 1.000000 10747 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CUL2 ENST00000374749.8 1 1 0 0 0 21 115 CUL2:single_exon:E21 1.000000 1892 CUL2:exon_block:E20-E21 1.000000 2009 CUL2:boundary_CDS_coverage:after_E20 1.000000 129 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CUL3 ENST00000264414.9 105 84 28 0 21 16 85 CUL3:single_exon:E9 0.238095 171 CUL3:exon_block:E5-E9 0.533333 838 CUL3:boundary_CDS_coverage:after_E1 1.000000 2238 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CUL4B ENST00000371322.11 61 49 24 0 12 20 109 CUL4B:single_exon:E10 0.114754 119 CUL4B:exon_block:E3-E7 0.295082 501 CUL4B:boundary_CDS_coverage:after_E2 0.934426 2013 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CUL7 ENST00000265348.9 126 103 32 0 23 26 145 CUL7:single_exon:E9 0.063492 106 CUL7:exon_block:E21-E25 0.246032 967 CUL7:boundary_CDS_coverage:after_E1 1.000000 5094 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CUX1 ENST00000292535.12 51 40 7 0 5 24 133 CUX1:single_exon:E15 0.196078 672 CUX1:exon_block:E15-E19 0.411765 1851 CUX1:boundary_CDS_coverage:after_E3 0.960784 4326 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CUX2 ENST00000261726.11 4 4 1 0 0 22 121 CUX2:single_exon:E6 0.250000 124 CUX2:exon_block:E18-E20 0.500000 619 CUX2:boundary_CDS_coverage:after_E5 1.000000 4022 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CWC27 ENST00000381070.8 45 34 19 0 11 14 73 CWC27:single_exon:E12 0.133333 110 CWC27:exon_block:E9-E13 0.466667 507 CWC27:boundary_CDS_coverage:after_E1 0.977778 1374 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CWF19L1 ENST00000354105.10 29 21 11 0 8 14 73 CWF19L1:single_exon:E9 0.172414 115 CWF19L1:exon_block:E5-E9 0.551724 675 CWF19L1:boundary_CDS_coverage:after_E1 1.000000 1591 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CXCR2 ENST00000318507.7 6 6 0 0 0 3 8 CXCR2:single_exon:E3 1.000000 2475 CXCR2:exon_block:E2-E3 1.000000 2527 CXCR2:boundary_CDS_coverage:after_E1 1.000000 1080 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CXCR4 ENST00000241393.4 40 40 0 0 0 2 4 CXCR4:single_exon:E2 1.000000 1564 CXCR4:exon_block:E1-E2 1.000000 1668 CXCR4:boundary_CDS_coverage:after_E1 1.000000 1041 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CXorf65 ENST00000374251.6 1 0 0 0 0 6 25 CXorf65:single_exon:E4 0.000000 69 CXorf65:exon_block:E4-E5 0.000000 176 CXorf65:boundary_CDS_coverage:after_E5 0.000000 123 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYB561 ENST00000360793.8 2 2 0 0 0 6 25 CYB561:single_exon:E3 0.500000 99 CYB561:exon_block:E2-E3 1.000000 314 CYB561:boundary_CDS_coverage:after_E1 1.000000 753 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYB561D2 ENST00000425346.6 1 0 0 0 0 4 13 CYB561D2:single_exon:E3 0.000000 38 CYB561D2:exon_block:E2-E3 0.000000 190 CYB561D2:boundary_CDS_coverage:after_E3 1.000000 501 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYB5A ENST00000340533.9 3 2 2 0 1 5 19 CYB5A:single_exon:E2 0.666667 129 CYB5A:exon_block:E1-E2 1.000000 346 CYB5A:boundary_CDS_coverage:after_E1 0.666667 273 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYB5R3 ENST00000352397.10 36 31 7 0 5 9 43 CYB5R3:single_exon:E9 0.194444 2106 CYB5R3:exon_block:E5-E9 0.694444 2506 CYB5R3:boundary_CDS_coverage:after_E1 0.972222 882 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYBA ENST00000261623.8 76 53 24 2 21 6 25 CYBA:single_exon:E6 0.210526 283 CYBA:exon_block:E2-E6 0.842105 594 CYBA:boundary_CDS_coverage:after_E1 0.921053 527 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYBB ENST00000378588.5 206 163 62 0 41 13 67 CYBB:single_exon:E9 0.160194 254 CYBB:exon_block:E6-E10 0.490291 831 CYBB:boundary_CDS_coverage:after_E1 0.946602 1665 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYBC1 ENST00000306645.10 5 3 2 0 2 7 31 CYBC1:single_exon:E5 0.400000 97 CYBC1:exon_block:E2-E5 1.000000 336 CYBC1:boundary_CDS_coverage:after_E1 1.000000 561 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYC1 ENST00000318911.5 2 2 0 0 0 7 31 CYC1:single_exon:E5 0.500000 161 CYC1:exon_block:E2-E5 1.000000 643 CYC1:boundary_CDS_coverage:after_E1 1.000000 846 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYCS ENST00000305786.7 7 7 0 0 0 3 8 CYCS:single_exon:E3 0.571429 5194 CYCS:exon_block:E2-E3 1.000000 5371 CYCS:boundary_CDS_coverage:after_E1 1.000000 315 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYFIP2 ENST00000620254.5 21 19 4 0 2 31 175 CYFIP2:single_exon:E19 0.333333 77 CYFIP2:exon_block:E15-E19 0.571429 633 CYFIP2:boundary_CDS_coverage:after_E3 1.000000 3552 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYGB ENST00000293230.10 13 0 0 0 0 4 13 CYGB:single_exon:E3 0.000000 164 CYGB:exon_block:E2-E3 0.000000 396 CYGB:boundary_CDS_coverage:after_E3 0.000000 31 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYLD ENST00000427738.8 75 63 23 0 12 19 103 CYLD:single_exon:E16 0.146667 109 CYLD:exon_block:E15-E19 0.426667 6190 CYLD:boundary_CDS_coverage:after_E1 1.000000 2868 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP11A1 ENST00000268053.11 52 47 9 0 5 9 43 CYP11A1:single_exon:E4 0.173077 204 CYP11A1:exon_block:E1-E5 0.730769 1051 CYP11A1:boundary_CDS_coverage:after_E1 0.884615 1294 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP11B1 ENST00000292427.10 195 163 60 0 32 9 43 CYP11B1:single_exon:E5 0.179487 155 CYP11B1:exon_block:E4-E8 0.676923 803 CYP11B1:boundary_CDS_coverage:after_E1 0.907692 1270 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP11B2 ENST00000323110.2 131 97 56 0 34 9 43 CYP11B2:single_exon:E3 0.183206 200 CYP11B2:exon_block:E1-E5 0.633588 957 CYP11B2:boundary_CDS_coverage:after_E1 0.893130 1270 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP17A1 ENST00000369887.4 157 140 33 0 17 8 37 CYP17A1:single_exon:E6 0.184713 170 CYP17A1:exon_block:E4-E8 0.598726 1032 CYP17A1:boundary_CDS_coverage:after_E1 0.859873 1227 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP19A1 ENST00000396402.6 85 68 24 0 17 10 49 CYP19A1:single_exon:E9 0.223529 242 CYP19A1:exon_block:E2-E6 0.588235 781 CYP19A1:boundary_CDS_coverage:after_E1 1.000000 1509 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP1B1 ENST00000610745.5 125 120 11 0 5 3 8 CYP1B1:single_exon:E2 0.584000 1044 CYP1B1:exon_block:E2-E3 1.000000 4846 CYP1B1:boundary_CDS_coverage:after_E1 1.000000 1629 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP21A2 ENST00000644719.2 119 107 20 0 9 10 49 CYP21A2:single_exon:E10 0.184874 776 CYP21A2:exon_block:E6-E10 0.596639 1347 CYP21A2:boundary_CDS_coverage:after_E1 0.848739 1283 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP24A1 ENST00000216862.8 63 54 16 0 9 12 60 CYP24A1:single_exon:E2 0.190476 191 CYP24A1:exon_block:E1-E5 0.507937 1139 CYP24A1:boundary_CDS_coverage:after_E1 0.888889 1284 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP26B1 ENST00000001146.7 6 6 1 0 0 6 25 CYP26B1:single_exon:E1 0.333333 232 CYP26B1:exon_block:E1-E5 0.833333 1174 CYP26B1:boundary_CDS_coverage:after_E2 0.666667 1107 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP26C1 ENST00000651965.1 3 2 1 0 1 6 25 CYP26C1:single_exon:E3 0.333333 276 CYP26C1:exon_block:E3-E6 1.000000 1983 CYP26C1:boundary_CDS_coverage:after_E2 1.000000 1137 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP27A1 ENST00000258415.9 214 173 62 2 39 9 43 CYP27A1:single_exon:E8 0.154206 213 CYP27A1:exon_block:E1-E5 0.630841 1053 CYP27A1:boundary_CDS_coverage:after_E1 0.864486 1338 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP27B1 ENST00000228606.9 105 95 18 0 10 9 43 CYP27B1:single_exon:E8 0.228571 198 CYP27B1:exon_block:E4-E8 0.561905 824 CYP27B1:boundary_CDS_coverage:after_E1 0.866667 1329 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP2C8 ENST00000371270.6 1 1 1 0 0 9 43 CYP2C8:single_exon:E3 1.000000 150 CYP2C8:exon_block:E3-E4 1.000000 311 CYP2C8:boundary_CDS_coverage:after_E2 1.000000 1139 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP2C9 ENST00000260682.8 1 1 0 0 0 9 43 CYP2C9:single_exon:E4 1.000000 161 CYP2C9:exon_block:E3-E4 1.000000 311 CYP2C9:boundary_CDS_coverage:after_E3 1.000000 989 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP2R1 ENST00000334636.10 30 27 4 0 3 5 19 CYP2R1:single_exon:E3 0.466667 633 CYP2R1:exon_block:E1-E4 1.000000 1356 CYP2R1:boundary_CDS_coverage:after_E1 0.733333 1278 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP2U1 ENST00000332884.11 51 48 3 1 2 5 19 CYP2U1:single_exon:E2 0.549020 636 CYP2U1:exon_block:E1-E5 1.000000 4768 CYP2U1:boundary_CDS_coverage:after_E1 0.784314 1142 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP3A4 ENST00000651514.1 2 2 0 0 0 13 67 CYP3A4:single_exon:E10 0.500000 161 CYP3A4:exon_block:E10-E11 1.000000 388 CYP3A4:boundary_CDS_coverage:after_E9 1.000000 644 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP4F22 ENST00000269703.8 56 46 11 0 10 14 73 CYP4F22:single_exon:E8 0.160714 268 CYP4F22:exon_block:E7-E11 0.535714 721 CYP4F22:boundary_CDS_coverage:after_E1 1.000000 1593 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP4V2 ENST00000378802.5 86 69 27 0 17 11 55 CYP4V2:single_exon:E2 0.139535 113 CYP4V2:exon_block:E6-E10 0.523256 731 CYP4V2:boundary_CDS_coverage:after_E1 0.918605 1361 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP51A1 ENST00000003100.13 1 1 0 0 0 10 49 CYP51A1:single_exon:E5 1.000000 175 CYP51A1:exon_block:E5-E6 1.000000 295 CYP51A1:boundary_CDS_coverage:after_E4 1.000000 932 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP7A1 ENST00000301645.4 1 1 0 0 0 6 25 CYP7A1:single_exon:E4 1.000000 131 CYP7A1:exon_block:E4-E5 1.000000 307 CYP7A1:boundary_CDS_coverage:after_E3 1.000000 604 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYP7B1 ENST00000310193.4 82 74 9 0 8 6 25 CYP7B1:single_exon:E3 0.292683 591 CYP7B1:exon_block:E2-E6 0.914634 7190 CYP7B1:boundary_CDS_coverage:after_E1 0.951220 1396 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true CYS1 ENST00000381813.5 1 0 1 0 1 3 8 CYS1:single_exon:E1 1.000000 506 CYS1:exon_block:E1-E2 1.000000 559 CYS1:boundary_CDS_coverage:after_E1 1.000000 156 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true D2HGDH ENST00000321264.9 29 25 6 0 4 10 49 D2HGDH:single_exon:E10 0.241379 1102 D2HGDH:exon_block:E6-E10 0.586207 1724 D2HGDH:boundary_CDS_coverage:after_E1 1.000000 1563 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DAAM2 ENST00000274867.9 5 5 0 0 0 25 139 DAAM2:single_exon:E12 0.200000 59 DAAM2:exon_block:E3-E5 0.400000 260 DAAM2:boundary_CDS_coverage:after_E2 1.000000 3036 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DAB1 ENST00000371236.7 1 1 0 0 0 15 78 DAB1:single_exon:E10 1.000000 63 DAB1:exon_block:E9-E10 1.000000 123 DAB1:boundary_CDS_coverage:after_E9 1.000000 942 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DACT1 ENST00000395153.8 8 8 0 0 0 4 13 DACT1:single_exon:E4 1.000000 2953 DACT1:exon_block:E3-E4 1.000000 3109 DACT1:boundary_CDS_coverage:after_E3 1.000000 1763 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DAG1 ENST00000308775.7 21 20 1 0 1 3 8 DAG1:single_exon:E3 0.714286 4819 DAG1:exon_block:E2-E3 1.000000 5220 DAG1:boundary_CDS_coverage:after_E1 1.000000 2685 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DAGLA ENST00000257215.10 8 8 0 0 0 20 109 DAGLA:single_exon:E20 1.000000 3470 DAGLA:exon_block:E19-E20 1.000000 3658 DAGLA:boundary_CDS_coverage:after_E19 1.000000 955 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DAND5 ENST00000317060.4 1 1 0 0 0 2 4 DAND5:single_exon:E2 1.000000 1372 DAND5:exon_block:E1-E2 1.000000 1781 DAND5:boundary_CDS_coverage:after_E1 1.000000 243 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DAP3 ENST00000368336.10 8 3 0 0 0 13 67 DAP3:single_exon:E13 0.375000 854 DAP3:exon_block:E12-E13 0.375000 972 DAP3:boundary_CDS_coverage:after_E12 0.375000 83 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DARS1 ENST00000264161.9 11 11 3 0 0 16 85 DARS1:single_exon:E10 0.272727 148 DARS1:exon_block:E9-E12 0.636364 473 DARS1:boundary_CDS_coverage:after_E4 1.000000 1183 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DARS2 ENST00000649689.2 73 56 18 0 17 17 91 DARS2:single_exon:E6 0.109589 124 DARS2:exon_block:E2-E6 0.356164 489 DARS2:boundary_CDS_coverage:after_E1 0.904110 1808 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DAW1 ENST00000309931.3 5 5 0 0 0 13 67 DAW1:single_exon:E5 0.400000 123 DAW1:exon_block:E3-E5 0.600000 327 DAW1:boundary_CDS_coverage:after_E2 1.000000 1132 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DAZL ENST00000399444.7 2 2 0 0 0 11 55 DAZL:single_exon:E3 1.000000 92 DAZL:exon_block:E3-E4 1.000000 144 DAZL:boundary_CDS_coverage:after_E2 1.000000 735 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DBH ENST00000393056.8 10 8 2 0 2 12 61 DBH:single_exon:E5 0.200000 103 DBH:exon_block:E1-E5 0.700000 1033 DBH:boundary_CDS_coverage:after_E1 0.900000 1512 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DBNL ENST00000448521.6 12 0 0 12 0 13 67 DBNL:single_exon:E13 1.000000 8680 DBNL:exon_block:E12-E13 1.000000 8786 DBNL:boundary_CDS_coverage:after_E12 1.000000 137 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DBR1 ENST00000260803.9 1 1 0 0 0 8 37 DBR1:single_exon:E5 1.000000 225 DBR1:exon_block:E5-E6 1.000000 306 DBR1:boundary_CDS_coverage:after_E4 1.000000 1143 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DBT ENST00000370132.8 163 126 54 2 35 11 55 DBT:single_exon:E4 0.159509 182 DBT:exon_block:E3-E7 0.564417 764 DBT:boundary_CDS_coverage:after_E1 0.975460 1395 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCAF12L1 ENST00000371126.3 1 1 0 0 0 2 3 DCAF12L1:single_exon:E1 1.000000 1620 DCAF12L1:exon_block:E1-E2 1.000000 3345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCAF17 ENST00000375255.8 57 41 21 0 16 14 73 DCAF17:single_exon:E10 0.122807 110 DCAF17:exon_block:E1-E5 0.438596 889 DCAF17:boundary_CDS_coverage:after_E1 0.894737 1434 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCAF6 ENST00000367840.4 9 0 0 0 0 22 121 DCAF6:single_exon:E17 0.000000 42 DCAF6:exon_block:E2-E3 0.000000 155 DCAF6:boundary_CDS_coverage:after_E21 0.000000 62 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCAF8 ENST00000368074.6 1 1 1 0 0 14 73 DCAF8:single_exon:E6 1.000000 95 DCAF8:exon_block:E6-E7 1.000000 206 DCAF8:boundary_CDS_coverage:after_E5 1.000000 927 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCC ENST00000442544.7 49 44 6 0 5 29 163 DCC:single_exon:E15 0.102041 195 DCC:exon_block:E15-E19 0.285714 771 DCC:boundary_CDS_coverage:after_E1 0.959184 4250 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCDC1 ENST00000684477.1 1 1 0 0 0 39 222 DCDC1:single_exon:E37 1.000000 151 DCDC1:exon_block:E37-E38 1.000000 319 DCDC1:boundary_CDS_coverage:after_E36 1.000000 276 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCDC2 ENST00000378454.8 33 23 13 0 10 10 49 DCDC2:single_exon:E1 0.242424 602 DCDC2:exon_block:E1-E5 0.636364 1013 DCDC2:boundary_CDS_coverage:after_E1 0.848485 1135 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCHS1 ENST00000299441.5 40 37 4 0 3 21 115 DCHS1:single_exon:E14 0.150000 879 DCHS1:exon_block:E2-E6 0.375000 3601 DCHS1:boundary_CDS_coverage:after_E1 1.000000 9894 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCLRE1B ENST00000650450.2 6 5 1 0 0 4 13 DCLRE1B:single_exon:E3 0.500000 183 DCLRE1B:exon_block:E2-E4 0.833333 3305 DCLRE1B:boundary_CDS_coverage:after_E1 0.833333 1407 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCLRE1C ENST00000378278.7 183 137 62 0 46 14 73 DCLRE1C:single_exon:E14 0.333333 4718 DCLRE1C:exon_block:E10-E14 0.464481 5094 DCLRE1C:boundary_CDS_coverage:after_E1 0.961749 1967 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCN ENST00000052754.10 5 5 0 0 0 8 37 DCN:single_exon:E8 0.800000 5769 DCN:exon_block:E7-E8 1.000000 5908 DCN:boundary_CDS_coverage:after_E6 1.000000 331 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCPS ENST00000263579.5 7 4 3 0 3 6 25 DCPS:single_exon:E4 0.285714 114 DCPS:exon_block:E1-E4 0.857143 657 DCPS:boundary_CDS_coverage:after_E1 1.000000 810 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCT ENST00000377028.10 11 11 1 0 0 8 37 DCT:single_exon:E1 0.363636 722 DCT:exon_block:E1-E5 0.818182 1470 DCT:boundary_CDS_coverage:after_E1 0.636364 1262 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCTN1 ENST00000628224.3 14 10 6 0 4 32 181 DCTN1:single_exon:E2 0.714286 246 DCTN1:exon_block:E2-E3 0.714286 325 DCTN1:boundary_CDS_coverage:after_E1 1.000000 3801 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCTN5 ENST00000300087.7 1 0 0 0 0 6 25 DCTN5:single_exon:E2 0.000000 69 DCTN5:exon_block:E2-E3 0.000000 188 DCTN5:boundary_CDS_coverage:after_E5 0.000000 95 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCX ENST00000636035.2 165 154 17 0 11 7 31 DCX:single_exon:E3 0.424242 341 DCX:exon_block:E2-E5 0.975758 968 DCX:boundary_CDS_coverage:after_E1 1.000000 1098 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DCXR ENST00000306869.7 1 1 0 0 0 8 37 DCXR:single_exon:E7 1.000000 118 DCXR:exon_block:E6-E7 1.000000 183 DCXR:boundary_CDS_coverage:after_E6 1.000000 219 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDB1 ENST00000301764.12 5 5 0 0 0 27 151 DDB1:single_exon:E5 0.400000 115 DDB1:exon_block:E4-E5 0.600000 337 DDB1:boundary_CDS_coverage:after_E3 1.000000 3093 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDB2 ENST00000256996.9 15 11 5 0 4 10 49 DDB2:single_exon:E6 0.266667 178 DDB2:exon_block:E4-E8 0.866667 732 DDB2:boundary_CDS_coverage:after_E3 0.933333 825 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDC ENST00000444124.7 92 74 36 0 18 15 78 DDC:single_exon:E3 0.130435 114 DDC:exon_block:E2-E6 0.510870 742 DDC:boundary_CDS_coverage:after_E1 1.000000 1440 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDHD1 ENST00000673822.2 30 27 8 0 3 13 67 DDHD1:single_exon:E1 0.366667 1063 DDHD1:exon_block:E1-E5 0.533333 1621 DDHD1:boundary_CDS_coverage:after_E1 0.633333 1862 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDHD2 ENST00000397166.7 38 33 12 0 5 18 96 DDHD2:single_exon:E3 0.131579 191 DDHD2:exon_block:E12-E16 0.368421 710 DDHD2:boundary_CDS_coverage:after_E1 1.000000 2133 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDOST ENST00000602624.7 3 3 1 0 0 11 55 DDOST:single_exon:E6 0.666667 94 DDOST:exon_block:E5-E6 0.666667 189 DDOST:boundary_CDS_coverage:after_E5 1.000000 766 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDR2 ENST00000367921.8 27 21 8 0 6 18 97 DDR2:single_exon:E16 0.259259 235 DDR2:exon_block:E13-E17 0.555556 929 DDR2:boundary_CDS_coverage:after_E3 1.000000 2483 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDRGK1 ENST00000354488.8 3 1 2 0 2 9 43 DDRGK1:single_exon:E3 0.666667 113 DDRGK1:exon_block:E3-E4 1.000000 215 DDRGK1:boundary_CDS_coverage:after_E2 1.000000 647 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX11 ENST00000542838.6 47 29 24 0 17 27 151 DDX11:single_exon:E22 0.085106 69 DDX11:exon_block:E22-E26 0.276596 489 DDX11:boundary_CDS_coverage:after_E2 0.978723 2574 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX17 ENST00000403230.3 4 3 1 0 1 13 67 DDX17:single_exon:E5 0.250000 66 DDX17:exon_block:E2-E5 0.500000 451 DDX17:boundary_CDS_coverage:after_E1 1.000000 1900 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX23 ENST00000308025.8 5 5 0 0 0 17 91 DDX23:single_exon:E16 0.400000 175 DDX23:exon_block:E13-E17 1.000000 1616 DDX23:boundary_CDS_coverage:after_E12 1.000000 900 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX25 ENST00000263576.11 2 1 0 0 0 12 61 DDX25:single_exon:E10 0.500000 163 DDX25:exon_block:E10-E11 0.500000 352 DDX25:boundary_CDS_coverage:after_E9 0.500000 411 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX39A ENST00000242776.9 1 1 0 0 0 11 55 DDX39A:single_exon:E6 1.000000 119 DDX39A:exon_block:E6-E7 1.000000 251 DDX39A:boundary_CDS_coverage:after_E5 1.000000 668 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX3X ENST00000644876.2 366 325 90 0 41 17 91 DDX3X:single_exon:E13 0.147541 182 DDX3X:exon_block:E10-E14 0.497268 751 DDX3X:boundary_CDS_coverage:after_E1 0.978142 1941 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX3Y ENST00000336079.8 4 4 2 0 0 17 91 DDX3Y:single_exon:E12 0.500000 145 DDX3Y:exon_block:E12-E14 0.750000 445 DDX3Y:boundary_CDS_coverage:after_E4 1.000000 1699 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX41 ENST00000330503.12 117 89 46 0 28 17 91 DDX41:single_exon:E3 0.111111 160 DDX41:exon_block:E1-E5 0.376068 450 DDX41:boundary_CDS_coverage:after_E1 0.965812 1839 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX53 ENST00000327968.7 2 2 0 0 0 1 1 DDX53:single_exon:E1 1.000000 3630 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX54 ENST00000306014.10 3 3 1 0 0 20 109 DDX54:single_exon:E6 0.333333 42 DDX54:exon_block:E5-E6 0.333333 92 DDX54:boundary_CDS_coverage:after_E5 0.666667 2029 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX59 ENST00000331314.11 8 5 2 1 2 8 37 DDX59:single_exon:E8 0.375000 481 DDX59:exon_block:E5-E8 0.625000 1015 DDX59:boundary_CDS_coverage:after_E1 1.000000 1857 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DDX6 ENST00000534980.7 8 8 5 0 0 14 72 DDX6:single_exon:E11 0.625000 64 DDX6:exon_block:E10-E12 0.875000 283 DDX6:boundary_CDS_coverage:after_E6 1.000000 803 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DEAF1 ENST00000382409.4 103 87 27 0 16 12 61 DEAF1:single_exon:E5 0.330097 140 DEAF1:exon_block:E4-E8 0.786408 609 DEAF1:boundary_CDS_coverage:after_E2 0.961165 1308 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DEF6 ENST00000316637.7 9 9 2 0 0 11 55 DEF6:single_exon:E4 0.444444 237 DEF6:exon_block:E4-E7 0.777778 792 DEF6:boundary_CDS_coverage:after_E1 1.000000 1797 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DEGS1 ENST00000323699.9 19 16 3 0 3 3 8 DEGS1:single_exon:E2 0.631579 743 DEGS1:exon_block:E1-E3 1.000000 2032 DEGS1:boundary_CDS_coverage:after_E1 0.842105 887 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DENND3 ENST00000519811.6 1 1 0 0 0 23 127 DENND3:single_exon:E13 1.000000 522 DENND3:exon_block:E12-E13 1.000000 722 DENND3:boundary_CDS_coverage:after_E12 1.000000 2081 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DENND4A ENST00000443035.8 1 1 1 0 0 33 187 DENND4A:single_exon:E16 1.000000 136 DENND4A:exon_block:E15-E16 1.000000 270 DENND4A:boundary_CDS_coverage:after_E15 1.000000 3634 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DENND4B ENST00000361217.9 1 1 1 0 0 28 157 DENND4B:single_exon:E13 1.000000 146 DENND4B:exon_block:E13-E14 1.000000 286 DENND4B:boundary_CDS_coverage:after_E12 1.000000 2669 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DENND5A ENST00000328194.8 32 22 15 0 10 23 127 DENND5A:single_exon:E4 0.250000 658 DENND5A:exon_block:E2-E6 0.500000 1346 DENND5A:boundary_CDS_coverage:after_E1 1.000000 3752 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DENND5B ENST00000389082.10 1 1 1 0 0 21 115 DENND5B:single_exon:E13 1.000000 129 DENND5B:exon_block:E12-E13 1.000000 211 DENND5B:boundary_CDS_coverage:after_E12 1.000000 1270 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DEPDC5 ENST00000651528.2 382 286 144 1 95 43 247 DEPDC5:single_exon:E6 0.044503 84 DEPDC5:exon_block:E4-E8 0.157068 337 DEPDC5:boundary_CDS_coverage:after_E1 1.000000 4809 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DES ENST00000373960.4 123 107 31 0 16 9 43 DES:single_exon:E1 0.349593 664 DES:exon_block:E1-E5 0.609756 1109 DES:boundary_CDS_coverage:after_E1 0.658537 832 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DGAT1 ENST00000528718.6 74 49 31 1 24 17 91 DGAT1:single_exon:E1 0.135135 416 DGAT1:exon_block:E13-E17 0.337838 2456 DGAT1:boundary_CDS_coverage:after_E1 0.891892 1264 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DGKE ENST00000284061.8 57 49 11 0 8 12 61 DGKE:single_exon:E2 0.333333 482 DGKE:exon_block:E2-E6 0.719298 1064 DGKE:boundary_CDS_coverage:after_E1 1.000000 1701 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DGKG ENST00000265022.8 1 1 1 0 0 25 139 DGKG:single_exon:E7 1.000000 50 DGKG:exon_block:E7-E8 1.000000 125 DGKG:boundary_CDS_coverage:after_E6 1.000000 1829 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DGKH ENST00000337343.9 1 1 0 0 0 30 169 DGKH:single_exon:E9 1.000000 160 DGKH:exon_block:E8-E9 1.000000 263 DGKH:boundary_CDS_coverage:after_E8 1.000000 2702 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DGKZ ENST00000456247.7 1 0 0 0 1 31 175 DGKZ:single_exon:E26 0.000000 32 DGKZ:exon_block:E26-E27 0.000000 76 DGKZ:boundary_CDS_coverage:after_E1 1.000000 2623 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DGUOK ENST00000264093.9 67 54 21 0 13 7 31 DGUOK:single_exon:E2 0.194030 113 DGUOK:exon_block:E1-E5 0.850746 738 DGUOK:boundary_CDS_coverage:after_E1 0.820896 689 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHCR24 ENST00000371269.9 6 5 1 0 1 9 43 DHCR24:single_exon:E2 0.333333 156 DHCR24:exon_block:E2-E6 0.666667 789 DHCR24:boundary_CDS_coverage:after_E1 1.000000 1317 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHCR7 ENST00000355527.8 300 262 65 1 37 9 43 DHCR7:single_exon:E9 0.320000 1429 DHCR7:exon_block:E5-E9 0.840000 2071 DHCR7:boundary_CDS_coverage:after_E1 1.000000 1425 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHDDS ENST00000236342.12 42 37 6 0 5 9 43 DHDDS:single_exon:E3 0.238095 117 DHDDS:exon_block:E3-E7 0.714286 594 DHDDS:boundary_CDS_coverage:after_E1 1.000000 999 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHFR ENST00000439211.7 43 4 2 39 0 6 25 DHFR:single_exon:E1 0.953488 580 DHFR:exon_block:E1-E5 1.000000 979 DHFR:boundary_CDS_coverage:after_E2 0.046512 425 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHH ENST00000649637.2 19 18 1 0 1 3 8 DHH:single_exon:E3 0.526316 3829 DHH:exon_block:E1-E3 1.000000 4683 DHH:boundary_CDS_coverage:after_E1 0.894737 885 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHODH ENST00000219240.9 11 11 2 0 0 9 43 DHODH:single_exon:E5 0.454545 188 DHODH:exon_block:E3-E7 0.818182 739 DHODH:boundary_CDS_coverage:after_E1 1.000000 1164 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHPS ENST00000210060.12 5 4 2 0 1 9 43 DHPS:single_exon:E4 0.200000 97 DHPS:exon_block:E4-E8 0.800000 520 DHPS:boundary_CDS_coverage:after_E1 1.000000 900 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHRS3 ENST00000616661.5 2 1 0 1 0 6 25 DHRS3:single_exon:E4 0.500000 239 DHRS3:exon_block:E1-E4 1.000000 1560 DHRS3:boundary_CDS_coverage:after_E3 0.500000 447 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHRSX ENST00000334651.11 1 1 0 0 0 7 31 DHRSX:single_exon:E5 1.000000 208 DHRSX:exon_block:E4-E5 1.000000 310 DHRSX:boundary_CDS_coverage:after_E4 1.000000 602 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHTKD1 ENST00000263035.9 58 46 18 0 12 17 91 DHTKD1:single_exon:E8 0.206897 313 DHTKD1:exon_block:E8-E12 0.431034 796 DHTKD1:boundary_CDS_coverage:after_E1 0.965517 2603 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHX16 ENST00000376442.8 7 7 0 0 0 20 109 DHX16:single_exon:E13 0.428571 141 DHX16:exon_block:E10-E13 0.714286 604 DHX16:boundary_CDS_coverage:after_E6 0.857143 1998 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHX30 ENST00000445061.6 19 17 3 0 2 22 121 DHX30:single_exon:E15 0.421053 207 DHX30:exon_block:E11-E15 0.736842 1401 DHX30:boundary_CDS_coverage:after_E1 1.000000 3582 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHX34 ENST00000328771.9 3 3 0 0 0 17 91 DHX34:single_exon:E5 0.333333 103 DHX34:exon_block:E2-E5 0.666667 1652 DHX34:boundary_CDS_coverage:after_E1 1.000000 3429 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHX37 ENST00000308736.7 15 14 4 0 1 27 151 DHX37:single_exon:E15 0.200000 233 DHX37:exon_block:E14-E17 0.400000 529 DHX37:boundary_CDS_coverage:after_E5 1.000000 2584 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHX38 ENST00000268482.8 4 4 1 0 0 27 151 DHX38:single_exon:E4 0.250000 105 DHX38:exon_block:E14-E17 0.500000 555 DHX38:boundary_CDS_coverage:after_E3 1.000000 3170 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHX8 ENST00000262415.8 1 0 0 0 0 23 127 DHX8:single_exon:E3 0.000000 73 DHX8:exon_block:E2-E3 0.000000 159 DHX8:boundary_CDS_coverage:after_E22 1.000000 217 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DHX9 ENST00000367549.4 17 16 4 0 1 28 157 DHX9:single_exon:E20 0.235294 153 DHX9:exon_block:E17-E20 0.294118 536 DHX9:boundary_CDS_coverage:after_E4 1.000000 3446 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIABLO ENST00000464942.7 3 2 0 1 0 6 25 DIABLO:single_exon:E4 0.333333 111 DIABLO:exon_block:E3-E6 1.000000 1250 DIABLO:boundary_CDS_coverage:after_E2 1.000000 534 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIAPH1 ENST00000389054.8 59 43 24 0 16 28 157 DIAPH1:single_exon:E16 0.118644 717 DIAPH1:exon_block:E23-E27 0.237288 643 DIAPH1:boundary_CDS_coverage:after_E1 0.932203 3699 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIAPH3 ENST00000400324.9 1 1 0 0 0 28 157 DIAPH3:single_exon:E17 1.000000 115 DIAPH3:exon_block:E17-E18 1.000000 211 DIAPH3:boundary_CDS_coverage:after_E16 1.000000 1620 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DICER1 ENST00000343455.8 833 714 164 0 119 27 151 DICER1:single_exon:E21 0.160864 781 DICER1:exon_block:E21-E25 0.457383 2258 DICER1:boundary_CDS_coverage:after_E1 1.000000 5766 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIO1 ENST00000361921.8 2 2 0 0 0 4 13 DIO1:single_exon:E3 0.500000 200 DIO1:exon_block:E1-E3 1.000000 705 DIO1:boundary_CDS_coverage:after_E2 0.500000 266 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIP2A ENST00000417564.3 2 1 2 0 1 38 217 DIP2A:single_exon:E11 0.500000 124 DIP2A:exon_block:E11-E12 0.500000 234 DIP2A:boundary_CDS_coverage:after_E11 1.000000 3284 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIP2B ENST00000301180.10 2 1 1 0 1 38 217 DIP2B:single_exon:E36 0.500000 178 DIP2B:exon_block:E35-E36 0.500000 253 DIP2B:boundary_CDS_coverage:after_E33 1.000000 685 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIP2C ENST00000280886.12 17 14 6 0 3 37 211 DIP2C:single_exon:E3 0.117647 111 DIP2C:exon_block:E19-E23 0.294118 773 DIP2C:boundary_CDS_coverage:after_E2 1.000000 4511 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIPK1A ENST00000370310.5 84 0 0 0 0 5 19 DIPK1A:single_exon:E1 0.000000 87 DIPK1A:exon_block:E1-E2 0.000000 222 DIPK1A:boundary_CDS_coverage:after_E4 1.000000 810 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIS3 ENST00000377767.9 2 2 1 0 0 21 115 DIS3:single_exon:E15 0.500000 87 DIS3:exon_block:E15-E17 1.000000 459 DIS3:boundary_CDS_coverage:after_E14 1.000000 991 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIS3L2 ENST00000325385.12 92 71 37 0 21 21 115 DIS3L2:single_exon:E6 0.119565 235 DIS3L2:exon_block:E6-E10 0.369565 838 DIS3L2:boundary_CDS_coverage:after_E1 1.000000 2655 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DISP1 ENST00000675850.1 5 4 1 0 1 9 43 DISP1:single_exon:E3 0.600000 526 DISP1:exon_block:E3-E6 0.800000 808 DISP1:boundary_CDS_coverage:after_E1 1.000000 4572 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DIXDC1 ENST00000440460.7 1 1 0 0 0 20 109 DIXDC1:single_exon:E7 1.000000 149 DIXDC1:exon_block:E7-E8 1.000000 239 DIXDC1:boundary_CDS_coverage:after_E6 1.000000 1280 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DKC1 ENST00000369550.10 30 28 5 0 2 15 79 DKC1:single_exon:E3 0.300000 87 DKC1:exon_block:E1-E4 0.533333 365 DKC1:boundary_CDS_coverage:after_E1 0.966667 1526 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DKK3 ENST00000683431.1 2 2 0 0 0 7 31 DKK3:single_exon:E7 1.000000 1651 DKK3:exon_block:E6-E7 1.000000 1808 DKK3:boundary_CDS_coverage:after_E6 1.000000 220 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLAT ENST00000280346.11 17 13 5 0 4 14 73 DLAT:single_exon:E3 0.176471 125 DLAT:exon_block:E3-E7 0.647059 748 DLAT:boundary_CDS_coverage:after_E1 0.941176 1662 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLC1 ENST00000276297.9 1 1 0 0 0 18 97 DLC1:single_exon:E9 1.000000 1424 DLC1:exon_block:E8-E9 1.000000 1488 DLC1:boundary_CDS_coverage:after_E8 1.000000 3018 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLD ENST00000205402.10 139 110 44 0 29 14 73 DLD:single_exon:E11 0.187050 190 DLD:exon_block:E9-E13 0.517986 780 DLD:boundary_CDS_coverage:after_E1 0.949640 1488 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLG3 ENST00000374360.8 40 32 12 1 7 19 103 DLG3:single_exon:E1 0.250000 724 DLG3:exon_block:E1-E5 0.425000 1207 DLG3:boundary_CDS_coverage:after_E1 0.775000 2094 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLG4 ENST00000399506.9 116 75 48 0 25 20 109 DLG4:single_exon:E9 0.103448 296 DLG4:exon_block:E9-E13 0.318966 728 DLG4:boundary_CDS_coverage:after_E1 0.853448 2142 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLG5 ENST00000372391.7 3 3 0 0 0 32 181 DLG5:single_exon:E15 0.666667 1020 DLG5:exon_block:E14-E15 0.666667 1113 DLG5:boundary_CDS_coverage:after_E14 0.666667 3375 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLK1 ENST00000341267.9 1 1 0 0 0 5 19 DLK1:single_exon:E4 1.000000 142 DLK1:exon_block:E3-E4 1.000000 273 DLK1:boundary_CDS_coverage:after_E3 1.000000 887 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLL1 ENST00000366756.4 62 55 10 0 7 11 55 DLL1:single_exon:E9 0.338710 799 DLL1:exon_block:E5-E9 0.548387 1378 DLL1:boundary_CDS_coverage:after_E1 0.967742 2115 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLL3 ENST00000356433.10 55 49 9 0 6 9 43 DLL3:single_exon:E4 0.345455 243 DLL3:exon_block:E3-E7 0.890909 1322 DLL3:boundary_CDS_coverage:after_E1 1.000000 1692 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLL4 ENST00000249749.7 28 27 3 0 1 11 55 DLL4:single_exon:E9 0.464286 703 DLL4:exon_block:E6-E10 0.714286 1333 DLL4:boundary_CDS_coverage:after_E1 1.000000 1989 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLX3 ENST00000434704.2 8 8 0 0 0 3 8 DLX3:single_exon:E3 0.875000 1860 DLX3:exon_block:E2-E3 1.000000 2051 DLX3:boundary_CDS_coverage:after_E1 1.000000 536 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DLX5 ENST00000648378.1 9 8 2 0 1 3 8 DLX5:single_exon:E2 0.666667 185 DLX5:exon_block:E1-E3 1.000000 1418 DLX5:boundary_CDS_coverage:after_E1 0.888889 512 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMAC2L ENST00000557421.7 2 0 0 0 0 6 25 DMAC2L:single_exon:E2 0.000000 36 DMAC2L:exon_block:E1-E2 0.000000 102 DMAC2L:boundary_CDS_coverage:after_E5 0.000000 112 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMAP1 ENST00000372289.7 1 1 0 0 0 10 49 DMAP1:single_exon:E8 1.000000 73 DMAP1:exon_block:E7-E8 1.000000 145 DMAP1:boundary_CDS_coverage:after_E7 1.000000 423 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMBX1 ENST00000360032.4 1 1 0 0 0 6 25 DMBX1:single_exon:E5 1.000000 349 DMBX1:exon_block:E4-E5 1.000000 528 DMBX1:boundary_CDS_coverage:after_E4 1.000000 798 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMC1 ENST00000216024.7 5 5 2 0 0 14 73 DMC1:single_exon:E6 0.200000 53 DMC1:exon_block:E6-E9 0.600000 260 DMC1:boundary_CDS_coverage:after_E3 1.000000 924 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMD ENST00000357033.9 2119 1683 655 0 436 79 463 DMD:single_exon:E20 0.026899 242 DMD:exon_block:E20-E24 0.094384 896 DMD:boundary_CDS_coverage:after_E1 0.996697 11024 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMGDH ENST00000255189.8 2 2 1 0 0 16 85 DMGDH:single_exon:E3 0.500000 99 DMGDH:exon_block:E2-E3 1.000000 274 DMGDH:boundary_CDS_coverage:after_E1 1.000000 2497 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMP1 ENST00000339673.11 18 13 6 0 5 6 25 DMP1:single_exon:E6 0.555556 2396 DMP1:exon_block:E2-E6 1.000000 2600 DMP1:boundary_CDS_coverage:after_E1 1.000000 1539 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMPK ENST00000291270.9 174 1 0 173 0 15 79 DMPK:single_exon:E15 0.994253 924 DMPK:exon_block:E14-E15 0.994253 1014 DMPK:boundary_CDS_coverage:after_E2 1.000000 1635 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMRT1 ENST00000382276.8 9 8 1 0 1 5 19 DMRT1:single_exon:E1 0.444444 496 DMRT1:exon_block:E1-E5 0.888889 2215 DMRT1:boundary_CDS_coverage:after_E1 0.555556 765 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMRT2 ENST00000358146.7 2 2 0 0 0 4 13 DMRT2:single_exon:E2 1.000000 569 DMRT2:exon_block:E2-E3 1.000000 672 DMRT2:boundary_CDS_coverage:after_E1 1.000000 1683 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMRT3 ENST00000190165.3 1 1 0 0 0 2 4 DMRT3:single_exon:E2 1.000000 1692 DMRT3:exon_block:E1-E2 1.000000 2493 DMRT3:boundary_CDS_coverage:after_E1 1.000000 962 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DMXL2 ENST00000560891.6 61 51 12 0 10 44 253 DMXL2:single_exon:E24 0.131148 1082 DMXL2:exon_block:E16-E20 0.278689 2309 DMXL2:boundary_CDS_coverage:after_E3 1.000000 8889 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNA2 ENST00000358410.8 17 8 4 0 8 21 115 DNA2:single_exon:E13 0.117647 110 DNA2:exon_block:E10-E13 0.294118 568 DNA2:boundary_CDS_coverage:after_E1 1.000000 3106 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAAF1 ENST00000378553.10 51 46 6 0 5 12 61 DNAAF1:single_exon:E8 0.215686 498 DNAAF1:exon_block:E4-E8 0.627451 1176 DNAAF1:boundary_CDS_coverage:after_E1 0.941176 2051 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAAF11 ENST00000620350.5 45 33 19 0 12 12 61 DNAAF11:single_exon:E5 0.266667 224 DNAAF11:exon_block:E2-E6 0.666667 826 DNAAF11:boundary_CDS_coverage:after_E1 0.977778 1388 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAAF19 ENST00000417826.3 26 22 7 0 4 4 13 DNAAF19:single_exon:E4 0.538462 3026 DNAAF19:exon_block:E2-E4 1.000000 3311 DNAAF19:boundary_CDS_coverage:after_E1 1.000000 726 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAAF2 ENST00000298292.13 50 50 1 0 0 3 8 DNAAF2:single_exon:E1 0.960000 1958 DNAAF2:exon_block:E1-E2 1.000000 2102 DNAAF2:boundary_CDS_coverage:after_E1 0.040000 648 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAAF3 ENST00000524407.7 53 39 14 1 12 12 61 DNAAF3:single_exon:E3 0.132075 143 DNAAF3:exon_block:E2-E6 0.490566 667 DNAAF3:boundary_CDS_coverage:after_E1 0.962264 1623 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAAF4 ENST00000321149.7 40 31 8 0 8 10 49 DNAAF4:single_exon:E5 0.300000 232 DNAAF4:exon_block:E3-E7 0.700000 770 DNAAF4:boundary_CDS_coverage:after_E1 1.000000 1260 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAAF5 ENST00000297440.11 50 43 9 0 7 13 67 DNAAF5:single_exon:E1 0.280000 617 DNAAF5:exon_block:E1-E5 0.560000 1279 DNAAF5:boundary_CDS_coverage:after_E1 0.740000 1970 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAAF6 ENST00000372453.8 12 7 6 0 5 7 31 DNAAF6:single_exon:E4 0.416667 106 DNAAF6:exon_block:E2-E6 0.916667 518 DNAAF6:boundary_CDS_coverage:after_E2 1.000000 489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH1 ENST00000420323.7 139 105 45 0 33 78 457 DNAH1:single_exon:E45 0.043165 174 DNAH1:exon_block:E45-E49 0.122302 820 DNAH1:boundary_CDS_coverage:after_E1 1.000000 12795 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH10 ENST00000673944.1 6 6 1 0 0 79 463 DNAH10:single_exon:E45 0.333333 146 DNAH10:exon_block:E44-E45 0.500000 266 DNAH10:boundary_CDS_coverage:after_E22 1.000000 9870 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH11 ENST00000409508.8 574 440 188 1 133 82 481 DNAH11:single_exon:E82 0.071429 833 DNAH11:exon_block:E78-E82 0.130662 1386 DNAH11:boundary_CDS_coverage:after_E1 0.975610 13197 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH12 ENST00000495027.6 2 2 0 0 0 74 433 DNAH12:single_exon:E27 0.500000 240 DNAH12:exon_block:E26-E27 0.500000 393 DNAH12:boundary_CDS_coverage:after_E26 1.000000 7941 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH14 ENST00000682510.1 2 2 1 0 0 86 505 DNAH14:single_exon:E23 0.500000 172 DNAH14:exon_block:E23-E24 0.500000 277 DNAH14:boundary_CDS_coverage:after_E22 1.000000 10156 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH17 ENST00000389840.7 23 20 7 0 3 81 475 DNAH17:single_exon:E73 0.086957 128 DNAH17:exon_block:E35-E37 0.173913 423 DNAH17:boundary_CDS_coverage:after_E7 1.000000 12342 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH2 ENST00000572933.6 7 6 2 0 1 86 505 DNAH2:single_exon:E76 0.428571 184 DNAH2:exon_block:E75-E76 0.428571 333 DNAH2:boundary_CDS_coverage:after_E36 1.000000 7559 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH3 ENST00000698260.1 4 4 0 0 0 62 361 DNAH3:single_exon:E53 0.500000 2142 DNAH3:exon_block:E52-E53 0.500000 2341 DNAH3:boundary_CDS_coverage:after_E35 1.000000 7263 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH5 ENST00000265104.5 1093 903 297 0 190 79 463 DNAH5:single_exon:E32 0.022873 157 DNAH5:exon_block:E32-E36 0.096066 947 DNAH5:boundary_CDS_coverage:after_E1 0.998170 13815 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH6 ENST00000389394.8 1 1 0 0 0 77 451 DNAH6:single_exon:E65 1.000000 161 DNAH6:exon_block:E65-E66 1.000000 250 DNAH6:boundary_CDS_coverage:after_E64 1.000000 1771 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH7 ENST00000312428.11 7 4 3 0 3 65 379 DNAH7:single_exon:E29 0.142857 99 DNAH7:exon_block:E41-E44 0.285714 1781 DNAH7:boundary_CDS_coverage:after_E9 1.000000 11203 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH8 ENST00000327475.11 156 122 58 0 34 93 547 DNAH8:single_exon:E2 0.032051 424 DNAH8:exon_block:E59-E63 0.096154 765 DNAH8:boundary_CDS_coverage:after_E1 1.000000 14121 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAH9 ENST00000262442.9 157 117 48 0 40 69 403 DNAH9:single_exon:E1 0.063694 446 DNAH9:exon_block:E17-E21 0.146497 1817 DNAH9:boundary_CDS_coverage:after_E1 0.942675 13041 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAI1 ENST00000242317.9 167 117 77 1 49 20 109 DNAI1:single_exon:E13 0.107784 248 DNAI1:exon_block:E13-E17 0.353293 655 DNAI1:boundary_CDS_coverage:after_E1 0.982036 2049 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAI2 ENST00000311014.11 115 90 40 0 25 14 72 DNAI2:single_exon:E11 0.173913 147 DNAI2:exon_block:E8-E12 0.513043 858 DNAI2:boundary_CDS_coverage:after_E1 1.000000 1815 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJB11 ENST00000265028.8 28 25 6 0 3 10 49 DNAJB11:single_exon:E4 0.178571 133 DNAJB11:exon_block:E2-E6 0.750000 614 DNAJB11:boundary_CDS_coverage:after_E1 0.964286 1006 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJB13 ENST00000339764.6 13 7 6 0 6 8 37 DNAJB13:single_exon:E4 0.384615 158 DNAJB13:exon_block:E1-E5 0.846154 650 DNAJB13:boundary_CDS_coverage:after_E1 1.000000 880 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJB2 ENST00000336576.10 26 9 17 0 16 9 43 DNAJB2:single_exon:E3 0.230769 110 DNAJB2:exon_block:E2-E6 0.769231 481 DNAJB2:boundary_CDS_coverage:after_E1 0.961538 972 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJB4 ENST00000370763.6 4 4 1 0 0 3 8 DNAJB4:single_exon:E1 0.500000 383 DNAJB4:exon_block:E1-E3 1.000000 2903 DNAJB4:boundary_CDS_coverage:after_E2 0.500000 231 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJB6 ENST00000262177.9 14 13 2 0 1 10 49 DNAJB6:single_exon:E5 1.000000 111 DNAJB6:exon_block:E4-E5 1.000000 171 DNAJB6:boundary_CDS_coverage:after_E4 1.000000 743 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJC12 ENST00000225171.7 22 13 8 1 8 5 19 DNAJC12:single_exon:E4 0.318182 205 DNAJC12:exon_block:E1-E5 0.954545 1221 DNAJC12:boundary_CDS_coverage:after_E1 0.863636 516 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJC19 ENST00000382564.8 21 14 12 0 7 6 25 DNAJC19:single_exon:E3 0.285714 74 DNAJC19:exon_block:E2-E6 1.000000 1279 DNAJC19:boundary_CDS_coverage:after_E1 1.000000 345 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJC21 ENST00000648817.1 48 37 17 0 11 12 61 DNAJC21:single_exon:E5 0.312500 305 DNAJC21:exon_block:E3-E7 0.687500 792 DNAJC21:boundary_CDS_coverage:after_E1 0.958333 1496 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJC3 ENST00000602402.6 10 8 3 0 2 12 61 DNAJC3:single_exon:E4 0.200000 75 DNAJC3:exon_block:E9-E12 0.500000 4519 DNAJC3:boundary_CDS_coverage:after_E4 0.900000 1119 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJC30 ENST00000395176.3 9 9 0 0 0 1 1 DNAJC30:single_exon:E1 1.000000 2536 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJC5 ENST00000360864.9 4 4 0 0 0 5 19 DNAJC5:single_exon:E4 1.000000 172 DNAJC5:exon_block:E3-E4 1.000000 386 DNAJC5:boundary_CDS_coverage:after_E3 1.000000 273 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJC6 ENST00000371069.5 13 10 5 0 3 19 103 DNAJC6:single_exon:E6 0.153846 134 DNAJC6:exon_block:E4-E7 0.461538 601 DNAJC6:boundary_CDS_coverage:after_E1 0.923077 2717 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAJC9 ENST00000372950.6 3 0 0 0 0 5 19 DNAJC9:single_exon:E4 0.000000 87 DNAJC9:exon_block:E3-E4 0.000000 342 DNAJC9:boundary_CDS_coverage:after_E4 1.000000 117 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAL1 ENST00000553645.7 10 10 2 0 0 8 37 DNAL1:single_exon:E7 0.500000 141 DNAL1:exon_block:E3-E7 0.900000 490 DNAL1:boundary_CDS_coverage:after_E1 1.000000 567 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNAL4 ENST00000216068.9 1 0 1 0 1 4 13 DNAL4:single_exon:E3 1.000000 84 DNAL4:exon_block:E2-E3 1.000000 292 DNAL4:boundary_CDS_coverage:after_E3 1.000000 162 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNALI1 ENST00000652629.1 1 1 0 0 0 6 25 DNALI1:single_exon:E5 1.000000 165 DNALI1:exon_block:E4-E5 1.000000 344 DNALI1:boundary_CDS_coverage:after_E4 1.000000 198 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNASE1 ENST00000246949.10 2 1 0 0 0 9 43 DNASE1:single_exon:E2 0.500000 148 DNASE1:exon_block:E2-E3 0.500000 237 DNASE1:boundary_CDS_coverage:after_E1 1.000000 846 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNASE1L1 ENST00000369807.6 8 0 0 0 0 8 37 DNASE1L1:single_exon:E4 0.000000 87 DNASE1L1:exon_block:E3-E4 0.000000 176 DNASE1L1:boundary_CDS_coverage:after_E7 0.000000 132 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNASE1L3 ENST00000394549.7 18 13 9 0 5 8 37 DNASE1L3:single_exon:E3 0.222222 90 DNASE1L3:exon_block:E2-E6 0.833333 563 DNASE1L3:boundary_CDS_coverage:after_E1 0.944444 774 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNASE2 ENST00000222219.8 3 3 1 0 0 6 25 DNASE2:single_exon:E4 0.666667 165 DNASE2:exon_block:E3-E4 1.000000 244 DNASE2:boundary_CDS_coverage:after_E2 1.000000 813 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNHD1 ENST00000254579.11 45 38 9 0 7 43 247 DNHD1:single_exon:E42 0.111111 806 DNHD1:exon_block:E25-E29 0.200000 2282 DNHD1:boundary_CDS_coverage:after_E1 1.000000 14259 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNM1 ENST00000372923.8 67 62 9 0 5 22 121 DNM1:single_exon:E4 0.179104 204 DNM1:exon_block:E4-E8 0.477612 743 DNM1:boundary_CDS_coverage:after_E1 0.910448 2431 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNM1L ENST00000549701.6 65 55 19 0 10 20 109 DNM1L:single_exon:E10 0.153846 121 DNM1L:exon_block:E9-E13 0.369231 667 DNM1L:boundary_CDS_coverage:after_E1 0.969231 2106 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNM2 ENST00000389253.9 29 29 7 0 0 21 115 DNM2:single_exon:E17 0.275862 112 DNM2:exon_block:E15-E19 0.620690 734 DNM2:boundary_CDS_coverage:after_E7 1.000000 1618 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNMBP ENST00000324109.9 5 4 1 0 1 17 91 DNMBP:single_exon:E4 0.600000 1992 DNMBP:exon_block:E3-E4 0.600000 2115 DNMBP:boundary_CDS_coverage:after_E3 1.000000 4463 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNMT1 ENST00000359526.9 13 12 2 0 1 41 235 DNMT1:single_exon:E20 0.307692 152 DNMT1:exon_block:E20-E21 0.615385 340 DNMT1:boundary_CDS_coverage:after_E19 1.000000 3404 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNMT3A ENST00000321117.10 207 179 55 0 27 23 127 DNMT3A:single_exon:E8 0.115942 159 DNMT3A:exon_block:E7-E11 0.314010 790 DNMT3A:boundary_CDS_coverage:after_E1 1.000000 2736 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DNMT3B ENST00000328111.6 41 35 10 0 6 23 127 DNMT3B:single_exon:E23 0.146341 1595 DNMT3B:exon_block:E17-E21 0.365854 542 DNMT3B:boundary_CDS_coverage:after_E1 1.000000 2559 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOCK1 ENST00000623213.2 1 1 0 0 0 52 301 DOCK1:single_exon:E20 1.000000 90 DOCK1:exon_block:E19-E20 1.000000 188 DOCK1:boundary_CDS_coverage:after_E19 1.000000 3648 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOCK11 ENST00000276202.9 14 11 5 0 3 53 307 DOCK11:single_exon:E4 0.142857 83 DOCK11:exon_block:E46-E49 0.285714 595 DOCK11:boundary_CDS_coverage:after_E3 0.928571 5910 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOCK2 ENST00000520908.7 34 21 19 0 13 52 301 DOCK2:single_exon:E47 0.088235 138 DOCK2:exon_block:E10-E14 0.176471 540 DOCK2:boundary_CDS_coverage:after_E1 1.000000 5447 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOCK3 ENST00000266037.10 11 9 4 0 2 53 307 DOCK3:single_exon:E13 0.181818 89 DOCK3:exon_block:E12-E13 0.272727 237 DOCK3:boundary_CDS_coverage:after_E2 1.000000 5969 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOCK4 ENST00000428084.6 3 3 0 0 0 53 307 DOCK4:single_exon:E30 0.333333 59 DOCK4:exon_block:E28-E31 1.000000 385 DOCK4:boundary_CDS_coverage:after_E27 1.000000 2995 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOCK6 ENST00000294618.12 97 63 43 0 34 48 277 DOCK6:single_exon:E33 0.061856 97 DOCK6:exon_block:E31-E35 0.175258 597 DOCK6:boundary_CDS_coverage:after_E1 1.000000 6097 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOCK7 ENST00000635253.2 111 74 36 0 37 50 289 DOCK7:single_exon:E33 0.054054 163 DOCK7:exon_block:E20-E24 0.144144 750 DOCK7:boundary_CDS_coverage:after_E2 1.000000 6276 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOCK8 ENST00000432829.7 120 87 41 0 33 48 277 DOCK8:single_exon:E33 0.066667 88 DOCK8:exon_block:E39-E43 0.158333 694 DOCK8:boundary_CDS_coverage:after_E1 0.991667 6244 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOHH ENST00000427575.6 5 5 0 0 0 5 19 DOHH:single_exon:E5 0.600000 988 DOHH:exon_block:E3-E5 1.000000 1303 DOHH:boundary_CDS_coverage:after_E2 1.000000 632 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOK1 ENST00000233668.10 3 0 0 0 0 5 19 DOK1:single_exon:E3 0.000000 94 DOK1:exon_block:E3-E4 0.000000 279 DOK1:boundary_CDS_coverage:after_E4 0.000000 804 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOK7 ENST00000340083.6 144 124 22 0 19 7 31 DOK7:single_exon:E7 0.555556 1724 DOK7:exon_block:E3-E7 0.923611 2396 DOK7:boundary_CDS_coverage:after_E1 0.979167 1458 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOLK ENST00000372586.4 14 14 0 0 0 1 1 DOLK:single_exon:E1 1.000000 2074 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DONSON ENST00000303071.10 47 39 10 0 8 10 49 DONSON:single_exon:E8 0.212766 199 DONSON:exon_block:E5-E9 0.659574 778 DONSON:boundary_CDS_coverage:after_E2 0.893617 1296 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOP1A ENST00000349129.7 8 0 0 0 0 39 223 DOP1A:single_exon:E14 0.000000 30 DOP1A:exon_block:E13-E14 0.000000 145 DOP1A:boundary_CDS_coverage:after_E38 1.000000 303 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DOT1L ENST00000398665.8 9 9 1 0 0 28 157 DOT1L:single_exon:E5 0.444444 229 DOT1L:exon_block:E3-E5 0.555556 368 DOT1L:boundary_CDS_coverage:after_E2 1.000000 4486 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPAGT1 ENST00000354202.9 41 35 11 0 6 9 43 DPAGT1:single_exon:E3 0.219512 214 DPAGT1:exon_block:E1-E5 0.658537 926 DPAGT1:boundary_CDS_coverage:after_E1 0.829268 1063 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPF2 ENST00000528416.6 17 14 5 0 3 11 55 DPF2:single_exon:E10 0.588235 82 DPF2:exon_block:E8-E10 1.000000 324 DPF2:boundary_CDS_coverage:after_E7 1.000000 398 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPH1 ENST00000263083.12 14 12 5 0 2 13 66 DPH1:single_exon:E9 0.214286 101 DPH1:exon_block:E3-E7 0.642857 535 DPH1:boundary_CDS_coverage:after_E1 0.928571 1253 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPH2 ENST00000255108.8 3 3 0 0 0 6 25 DPH2:single_exon:E2 0.333333 113 DPH2:exon_block:E2-E6 1.000000 2153 DPH2:boundary_CDS_coverage:after_E1 1.000000 1320 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPH5 ENST00000370109.8 3 3 0 0 0 8 37 DPH5:single_exon:E7 0.333333 104 DPH5:exon_block:E4-E8 1.000000 1383 DPH5:boundary_CDS_coverage:after_E3 1.000000 595 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPM1 ENST00000371588.10 22 18 11 0 4 9 43 DPM1:single_exon:E8 0.227273 115 DPM1:exon_block:E4-E8 0.636364 383 DPM1:boundary_CDS_coverage:after_E1 0.909091 619 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPM2 ENST00000314392.13 9 8 2 0 1 4 13 DPM2:single_exon:E2 0.444444 90 DPM2:exon_block:E2-E4 1.000000 875 DPM2:boundary_CDS_coverage:after_E1 1.000000 249 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPM3 ENST00000368400.5 13 13 1 0 0 2 4 DPM3:single_exon:E2 1.000000 355 DPM3:exon_block:E1-E2 1.000000 396 DPM3:boundary_CDS_coverage:after_E1 1.000000 276 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPP6 ENST00000377770.8 2 1 0 0 1 26 145 DPP6:single_exon:E11 0.500000 124 DPP6:exon_block:E11-E12 0.500000 163 DPP6:boundary_CDS_coverage:after_E1 1.000000 2352 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPP9 ENST00000262960.14 4 4 2 0 0 22 121 DPP9:single_exon:E21 0.500000 112 DPP9:exon_block:E18-E21 0.750000 555 DPP9:boundary_CDS_coverage:after_E4 1.000000 2363 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPPA2 ENST00000478945.1 1 1 0 0 0 9 42 DPPA2:single_exon:E7 1.000000 196 DPPA2:exon_block:E7-E8 1.000000 261 DPPA2:boundary_CDS_coverage:after_E6 1.000000 236 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPRX ENST00000376650.2 1 1 0 0 0 3 8 DPRX:single_exon:E3 1.000000 419 DPRX:exon_block:E2-E3 1.000000 574 DPRX:boundary_CDS_coverage:after_E2 1.000000 390 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPT ENST00000367817.4 1 1 1 0 0 4 13 DPT:single_exon:E4 1.000000 1148 DPT:exon_block:E3-E4 1.000000 1256 DPT:boundary_CDS_coverage:after_E3 1.000000 64 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPY19L2 ENST00000324472.9 7 6 2 0 1 22 121 DPY19L2:single_exon:E8 0.428571 92 DPY19L2:exon_block:E7-E11 0.857143 415 DPY19L2:boundary_CDS_coverage:after_E6 1.000000 1471 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPYD ENST00000370192.8 146 106 52 0 40 23 127 DPYD:single_exon:E12 0.089041 185 DPYD:exon_block:E10-E14 0.328767 947 DPYD:boundary_CDS_coverage:after_E1 0.979452 3036 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPYS ENST00000351513.7 31 26 6 0 5 10 48 DPYS:single_exon:E6 0.225806 142 DPYS:exon_block:E5-E9 0.645161 781 DPYS:boundary_CDS_coverage:after_E2 0.774194 1134 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPYSL2 ENST00000521913.7 1 1 1 0 0 14 73 DPYSL2:single_exon:E2 1.000000 89 DPYSL2:exon_block:E2-E3 1.000000 274 DPYSL2:boundary_CDS_coverage:after_E1 1.000000 1677 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DPYSL5 ENST00000288699.11 1 1 0 0 0 13 67 DPYSL5:single_exon:E2 1.000000 265 DPYSL5:exon_block:E1-E2 1.000000 388 DPYSL5:boundary_CDS_coverage:after_E1 1.000000 1692 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DRAM2 ENST00000484310.6 30 25 7 0 5 10 49 DRAM2:single_exon:E4 0.266667 145 DRAM2:exon_block:E4-E8 0.733333 614 DRAM2:boundary_CDS_coverage:after_E1 1.000000 798 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DRC1 ENST00000288710.7 35 30 12 0 5 17 91 DRC1:single_exon:E15 0.114286 144 DRC1:exon_block:E4-E8 0.371429 672 DRC1:boundary_CDS_coverage:after_E1 0.971429 2065 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DRC2 ENST00000320516.5 19 16 5 0 3 8 37 DRC2:single_exon:E5 0.368421 198 DRC2:exon_block:E2-E6 1.000000 894 DRC2:boundary_CDS_coverage:after_E1 1.000000 1320 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DRC4 ENST00000268699.9 19 13 9 0 6 11 55 DRC4:single_exon:E7 0.263158 168 DRC4:exon_block:E5-E9 0.684211 726 DRC4:boundary_CDS_coverage:after_E2 1.000000 1344 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DRC9 ENST00000265239.11 7 0 0 0 7 12 61 DRC9:single_exon:E3 0.000000 67 DRC9:exon_block:E9-E10 0.000000 207 DRC9:boundary_CDS_coverage:after_E1 1.000000 1329 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DRD4 ENST00000176183.6 1 1 0 0 0 4 13 DRD4:single_exon:E1 1.000000 321 DRD4:exon_block:E1-E2 1.000000 434 DRD4:boundary_CDS_coverage:after_E3 0.000000 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DRG1 ENST00000331457.9 5 5 2 0 0 9 43 DRG1:single_exon:E2 0.400000 124 DRG1:exon_block:E5-E7 0.600000 469 DRG1:boundary_CDS_coverage:after_E1 1.000000 1059 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DROSHA ENST00000344624.8 9 7 2 0 2 36 205 DROSHA:single_exon:E5 0.222222 834 DROSHA:exon_block:E24-E28 0.333333 379 DROSHA:boundary_CDS_coverage:after_E4 1.000000 4102 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DRP2 ENST00000395209.8 17 15 2 0 2 24 133 DRP2:single_exon:E21 0.235294 144 DRP2:exon_block:E17-E21 0.470588 525 DRP2:boundary_CDS_coverage:after_E1 1.000000 2871 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSC2 ENST00000280904.11 97 77 25 0 20 16 85 DSC2:single_exon:E11 0.103093 143 DSC2:exon_block:E8-E12 0.391753 946 DSC2:boundary_CDS_coverage:after_E1 0.989691 2634 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSC3 ENST00000360428.9 7 5 2 0 2 16 85 DSC3:single_exon:E14 0.285714 122 DSC3:exon_block:E14-E15 0.571429 380 DSC3:boundary_CDS_coverage:after_E8 1.000000 1611 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSCAM ENST00000400454.6 6 6 1 0 0 33 187 DSCAM:single_exon:E24 0.166667 99 DSCAM:exon_block:E9-E12 0.333333 770 DSCAM:boundary_CDS_coverage:after_E4 1.000000 5381 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSE ENST00000644252.3 15 12 2 0 1 6 25 DSE:single_exon:E4 0.266667 240 DSE:exon_block:E2-E6 0.866667 10446 DSE:boundary_CDS_coverage:after_E1 0.866667 2874 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSG1 ENST00000257192.5 44 35 16 0 9 15 79 DSG1:single_exon:E4 0.136364 156 DSG1:exon_block:E2-E6 0.477273 636 DSG1:boundary_CDS_coverage:after_E1 0.977273 3099 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSG2 ENST00000261590.13 126 103 36 0 23 15 79 DSG2:single_exon:E5 0.111111 145 DSG2:exon_block:E5-E9 0.396825 902 DSG2:boundary_CDS_coverage:after_E1 0.976190 3309 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSG3 ENST00000257189.5 1 1 0 0 0 16 85 DSG3:single_exon:E8 1.000000 186 DSG3:exon_block:E7-E8 1.000000 315 DSG3:boundary_CDS_coverage:after_E7 1.000000 2184 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSG4 ENST00000308128.9 17 15 4 0 2 16 85 DSG4:single_exon:E3 0.176471 132 DSG4:exon_block:E6-E10 0.470588 900 DSG4:boundary_CDS_coverage:after_E1 1.000000 3072 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSP ENST00000379802.8 816 760 98 0 56 24 133 DSP:single_exon:E23 0.291667 2295 DSP:exon_block:E20-E24 0.611520 6659 DSP:boundary_CDS_coverage:after_E1 0.985294 8443 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSPP ENST00000651931.1 59 53 15 0 6 5 19 DSPP:single_exon:E5 0.745763 3089 DSPP:exon_block:E2-E5 1.000000 4239 DSPP:boundary_CDS_coverage:after_E1 1.000000 3903 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DST ENST00000680361.1 196 113 40 0 83 104 613 DST:single_exon:E61 0.061224 1472 DST:exon_block:E60-E64 0.102041 2468 DST:boundary_CDS_coverage:after_E2 0.994898 23238 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DSTYK ENST00000367162.8 6 5 0 1 0 13 67 DSTYK:single_exon:E4 0.333333 233 DSTYK:exon_block:E1-E4 0.833333 1724 DSTYK:boundary_CDS_coverage:after_E2 0.833333 2133 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DTNA ENST00000444659.6 1 1 0 0 0 23 126 DTNA:single_exon:E17 1.000000 97 DTNA:exon_block:E16-E17 1.000000 211 DTNA:boundary_CDS_coverage:after_E16 1.000000 664 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DTNBP1 ENST00000344537.10 15 12 7 0 3 10 49 DTNBP1:single_exon:E7 0.133333 23 DTNBP1:exon_block:E4-E8 0.600000 506 DTNBP1:boundary_CDS_coverage:after_E1 1.000000 997 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DTYMK ENST00000305784.7 5 5 2 0 0 5 19 DTYMK:single_exon:E3 0.800000 91 DTYMK:exon_block:E3-E4 1.000000 289 DTYMK:boundary_CDS_coverage:after_E2 1.000000 397 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DUOX2 ENST00000389039.11 239 187 80 0 52 34 193 DUOX2:single_exon:E13 0.062762 176 DUOX2:exon_block:E21-E25 0.196653 761 DUOX2:boundary_CDS_coverage:after_E1 1.000000 4644 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DUOXA1 ENST00000560572.6 2 0 0 2 0 9 43 DUOXA1:single_exon:E9 1.000000 2000 DUOXA1:exon_block:E8-E9 1.000000 2218 DUOXA1:boundary_CDS_coverage:after_E8 1.000000 257 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DUOXA2 ENST00000323030.6 27 21 6 0 6 6 25 DUOXA2:single_exon:E5 0.259259 215 DUOXA2:exon_block:E1-E5 0.925926 1049 DUOXA2:boundary_CDS_coverage:after_E1 0.777778 813 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DUS1L ENST00000306796.10 1 1 0 0 0 14 73 DUS1L:single_exon:E9 1.000000 97 DUS1L:exon_block:E9-E10 1.000000 180 DUS1L:boundary_CDS_coverage:after_E8 1.000000 577 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DUS4L ENST00000265720.8 1 0 1 1 0 8 37 DUS4L:single_exon:E1 1.000000 239 DUS4L:exon_block:E1-E2 1.000000 328 DUS4L:boundary_CDS_coverage:after_E7 0.000000 245 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DUSP6 ENST00000279488.8 1 1 0 0 0 3 8 DUSP6:single_exon:E1 1.000000 862 DUSP6:exon_block:E1-E2 1.000000 1300 DUSP6:boundary_CDS_coverage:after_E2 0.000000 305 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DUT ENST00000331200.8 1 1 1 0 0 7 31 DUT:single_exon:E3 1.000000 92 DUT:exon_block:E3-E4 1.000000 137 DUT:boundary_CDS_coverage:after_E2 1.000000 337 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DVL1 ENST00000378888.10 24 22 4 0 2 15 79 DVL1:single_exon:E14 0.833333 207 DVL1:exon_block:E11-E15 0.958333 1898 DVL1:boundary_CDS_coverage:after_E3 1.000000 1723 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DVL2 ENST00000005340.10 4 0 0 0 0 15 79 DVL2:single_exon:E10 0.000000 68 DVL2:exon_block:E9-E10 0.000000 145 DVL2:boundary_CDS_coverage:after_E14 1.000000 446 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DVL3 ENST00000313143.9 19 14 6 0 5 15 79 DVL3:single_exon:E15 0.578947 3296 DVL3:exon_block:E13-E15 0.894737 3680 DVL3:boundary_CDS_coverage:after_E2 1.000000 1917 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYM ENST00000675505.1 54 39 18 0 15 18 97 DYM:single_exon:E15 0.129630 103 DYM:exon_block:E8-E12 0.370370 745 DYM:boundary_CDS_coverage:after_E1 1.000000 2172 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYNC1H1 ENST00000360184.10 176 168 20 0 8 78 457 DYNC1H1:single_exon:E8 0.147727 1077 DYNC1H1:exon_block:E4-E8 0.267045 2020 DYNC1H1:boundary_CDS_coverage:after_E1 1.000000 13682 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYNC1I2 ENST00000397119.8 5 3 3 0 2 18 97 DYNC1I2:single_exon:E8 0.200000 96 DYNC1I2:exon_block:E8-E11 0.800000 485 DYNC1I2:boundary_CDS_coverage:after_E1 1.000000 1914 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYNC2H1 ENST00000375735.7 566 435 208 0 131 89 523 DYNC2H1:single_exon:E38 0.031802 265 DYNC2H1:exon_block:E38-E42 0.102473 1019 DYNC2H1:boundary_CDS_coverage:after_E1 0.996466 12726 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYNC2I1 ENST00000407559.8 31 25 9 0 6 25 139 DYNC2I1:single_exon:E5 0.161290 306 DYNC2I1:exon_block:E3-E7 0.483871 921 DYNC2I1:boundary_CDS_coverage:after_E2 1.000000 3129 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYNC2I2 ENST00000372715.7 51 46 8 0 5 9 43 DYNC2I2:single_exon:E8 0.235294 158 DYNC2I2:exon_block:E6-E9 0.647059 889 DYNC2I2:boundary_CDS_coverage:after_E1 0.882353 1422 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYNC2LI1 ENST00000260605.12 71 14 19 0 12 13 67 DYNC2LI1:single_exon:E2 0.056338 118 DYNC2LI1:exon_block:E2-E6 0.154930 499 DYNC2LI1:boundary_CDS_coverage:after_E1 0.985915 1045 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYNLT2B ENST00000325318.10 8 6 3 0 2 5 19 DYNLT2B:single_exon:E3 0.375000 70 DYNLT2B:exon_block:E1-E3 1.000000 405 DYNLT2B:boundary_CDS_coverage:after_E1 0.750000 313 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYRK1A ENST00000647188.2 258 221 67 0 37 12 61 DYRK1A:single_exon:E7 0.209302 287 DYRK1A:exon_block:E6-E10 0.686047 1030 DYRK1A:boundary_CDS_coverage:after_E1 1.000000 2262 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYRK1B ENST00000323039.10 2 2 0 0 0 11 55 DYRK1B:single_exon:E4 1.000000 189 DYRK1B:exon_block:E3-E4 1.000000 309 DYRK1B:boundary_CDS_coverage:after_E3 1.000000 1704 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DYSF ENST00000410020.8 913 690 318 0 215 56 325 DYSF:single_exon:E29 0.041621 143 DYSF:exon_block:E26-E30 0.124863 705 DYSF:boundary_CDS_coverage:after_E1 0.991238 6266 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DZIP1 ENST00000376829.7 2 2 1 0 0 23 127 DZIP1:single_exon:E7 0.500000 125 DZIP1:exon_block:E5-E7 1.000000 774 DZIP1:boundary_CDS_coverage:after_E4 1.000000 2565 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true DZIP1L ENST00000327532.7 17 14 5 0 3 16 85 DZIP1L:single_exon:E5 0.235294 162 DZIP1L:exon_block:E2-E6 0.529412 1080 DZIP1L:boundary_CDS_coverage:after_E1 1.000000 2301 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true E2F6 ENST00000381525.8 1 0 0 0 1 7 31 E2F6:single_exon:E2 0.000000 55 E2F6:exon_block:E5-E6 0.000000 263 E2F6:boundary_CDS_coverage:after_E3 1.000000 463 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true E4F1 ENST00000301727.9 1 1 0 0 0 14 73 E4F1:single_exon:E4 1.000000 194 E4F1:exon_block:E3-E4 1.000000 300 E4F1:boundary_CDS_coverage:after_E3 1.000000 1937 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EARS2 ENST00000449606.7 35 33 7 0 2 9 43 EARS2:single_exon:E4 0.314286 473 EARS2:exon_block:E2-E6 0.857143 1082 EARS2:boundary_CDS_coverage:after_E1 0.971429 1430 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EBF3 ENST00000440978.2 110 94 38 0 16 17 91 EBF3:single_exon:E7 0.154545 82 EBF3:exon_block:E4-E8 0.536364 426 EBF3:boundary_CDS_coverage:after_E1 0.972727 1753 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EBP ENST00000495186.6 81 73 26 0 8 5 19 EBP:single_exon:E2 0.444444 374 EBP:exon_block:E2-E5 1.000000 1025 EBP:boundary_CDS_coverage:after_E1 1.000000 690 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ECE1 ENST00000374893.11 4 4 0 0 0 19 103 ECE1:single_exon:E17 0.500000 191 ECE1:exon_block:E17-E19 0.750000 3169 ECE1:boundary_CDS_coverage:after_E8 1.000000 1290 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ECEL1 ENST00000304546.6 62 46 19 0 16 18 97 ECEL1:single_exon:E2 0.258065 887 ECEL1:exon_block:E2-E6 0.467742 1285 ECEL1:boundary_CDS_coverage:after_E1 1.000000 2325 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ECHDC1 ENST00000454859.8 3 2 1 0 1 6 25 ECHDC1:single_exon:E4 0.333333 53 ECHDC1:exon_block:E3-E4 0.666667 196 ECHDC1:boundary_CDS_coverage:after_E2 1.000000 683 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ECHS1 ENST00000368547.4 63 56 12 0 7 8 37 ECHS1:single_exon:E2 0.222222 198 ECHS1:exon_block:E1-E5 0.857143 640 ECHS1:boundary_CDS_coverage:after_E1 0.809524 782 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ECM1 ENST00000369047.9 32 27 6 0 5 10 49 ECM1:single_exon:E7 0.281250 375 ECM1:exon_block:E6-E10 0.718750 1560 ECM1:boundary_CDS_coverage:after_E2 0.906250 1499 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDA ENST00000374552.9 276 245 56 2 29 8 37 EDA:single_exon:E4 0.221014 180 EDA:exon_block:E4-E8 0.673913 4513 EDA:boundary_CDS_coverage:after_E1 0.815217 777 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDA2R ENST00000374719.8 1 1 0 0 0 7 30 EDA2R:single_exon:E6 1.000000 387 EDA2R:exon_block:E5-E6 1.000000 552 EDA2R:boundary_CDS_coverage:after_E5 1.000000 374 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDAR ENST00000258443.7 91 78 19 0 13 12 61 EDAR:single_exon:E12 0.472527 2759 EDAR:exon_block:E8-E12 0.692308 3128 EDAR:boundary_CDS_coverage:after_E2 1.000000 1293 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDARADD ENST00000334232.9 16 13 3 0 3 6 25 EDARADD:single_exon:E6 0.687500 2664 EDARADD:exon_block:E2-E6 0.937500 2868 EDARADD:boundary_CDS_coverage:after_E1 1.000000 584 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDC3 ENST00000315127.9 2 2 1 0 0 7 31 EDC3:single_exon:E2 0.500000 182 EDC3:exon_block:E2-E4 1.000000 838 EDC3:boundary_CDS_coverage:after_E1 1.000000 1524 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDEM3 ENST00000318130.13 15 13 5 0 2 20 109 EDEM3:single_exon:E8 0.200000 106 EDEM3:exon_block:E13-E17 0.466667 792 EDEM3:boundary_CDS_coverage:after_E1 1.000000 2638 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDN1 ENST00000379375.6 4 4 1 0 0 5 19 EDN1:single_exon:E3 0.500000 156 EDN1:exon_block:E2-E3 1.000000 325 EDN1:boundary_CDS_coverage:after_E1 1.000000 572 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDN3 ENST00000337938.7 7 7 0 0 0 5 19 EDN3:single_exon:E2 0.714286 313 EDN3:exon_block:E2-E3 1.000000 490 EDN3:boundary_CDS_coverage:after_E1 1.000000 662 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDNRA ENST00000651419.1 2 2 1 0 0 8 37 EDNRA:single_exon:E6 0.500000 134 EDNRA:exon_block:E2-E6 1.000000 1104 EDNRA:boundary_CDS_coverage:after_E1 1.000000 1281 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EDNRB ENST00000646607.2 41 31 13 0 10 7 31 EDNRB:single_exon:E1 0.317073 741 EDNRB:exon_block:E1-E5 0.926829 1343 EDNRB:boundary_CDS_coverage:after_E1 0.682927 843 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EED ENST00000263360.11 13 13 1 0 0 12 61 EED:single_exon:E9 0.230769 106 EED:exon_block:E7-E11 0.769231 565 EED:boundary_CDS_coverage:after_E2 1.000000 1056 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EEF1A2 ENST00000217182.6 42 42 5 0 0 8 37 EEF1A2:single_exon:E3 0.261905 180 EEF1A2:exon_block:E3-E7 0.809524 1120 EEF1A2:boundary_CDS_coverage:after_E1 1.000000 1389 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EEF1AKMT4 ENST00000324557.9 1 0 0 0 0 3 8 EEF1AKMT4:single_exon:E1 0.000000 219 EEF1AKMT4:exon_block:E1-E2 0.000000 503 EEF1AKMT4:boundary_CDS_coverage:after_E2 0.000000 285 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EEF1B2 ENST00000392222.7 3 2 1 0 1 6 25 EEF1B2:single_exon:E4 0.333333 67 EEF1B2:exon_block:E1-E4 1.000000 482 EEF1B2:boundary_CDS_coverage:after_E1 1.000000 595 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EEF1D ENST00000618139.4 9 8 2 0 1 10 49 EEF1D:single_exon:E3 0.444444 1091 EEF1D:exon_block:E3-E7 0.777778 1488 EEF1D:boundary_CDS_coverage:after_E1 1.000000 1941 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EEF2 ENST00000309311.7 7 7 0 0 0 15 79 EEF2:single_exon:E14 0.285714 133 EEF2:exon_block:E10-E14 0.714286 1037 EEF2:boundary_CDS_coverage:after_E2 1.000000 2356 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EEF2KMT ENST00000427587.9 4 0 0 4 0 8 37 EEF2KMT:single_exon:E8 1.000000 1449 EEF2KMT:exon_block:E7-E8 1.000000 1599 EEF2KMT:boundary_CDS_coverage:after_E7 1.000000 98 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EEFSEC ENST00000254730.11 4 4 0 0 0 7 31 EEFSEC:single_exon:E5 0.500000 657 EEFSEC:exon_block:E5-E7 0.750000 1392 EEFSEC:boundary_CDS_coverage:after_E4 0.750000 1002 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EFCAB10 ENST00000480514.6 4 0 0 3 1 5 18 EFCAB10:single_exon:E5 0.750000 324 EFCAB10:exon_block:E4-E5 0.750000 348 EFCAB10:boundary_CDS_coverage:after_E3 1.000000 22 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EFEMP1 ENST00000355426.8 14 13 2 1 0 12 61 EFEMP1:single_exon:E5 0.214286 387 EFEMP1:exon_block:E4-E7 0.500000 679 EFEMP1:boundary_CDS_coverage:after_E3 1.000000 1398 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EFEMP2 ENST00000307998.11 43 37 19 1 5 11 55 EFEMP2:single_exon:E9 0.186047 127 EFEMP2:exon_block:E7-E11 0.604651 1202 EFEMP2:boundary_CDS_coverage:after_E1 1.000000 1329 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EFHC1 ENST00000371068.11 1 1 0 0 0 11 55 EFHC1:single_exon:E8 1.000000 214 EFHC1:exon_block:E7-E8 1.000000 355 EFHC1:boundary_CDS_coverage:after_E7 1.000000 642 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EFL1 ENST00000268206.12 5 5 1 0 0 20 109 EFL1:single_exon:E18 0.600000 959 EFL1:exon_block:E14-E18 0.800000 1545 EFL1:boundary_CDS_coverage:after_E1 1.000000 3360 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EFNB1 ENST00000204961.5 69 63 16 0 6 5 19 EFNB1:single_exon:E2 0.420290 278 EFNB1:exon_block:E1-E5 1.000000 3303 EFNB1:boundary_CDS_coverage:after_E1 0.811594 910 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EFNB2 ENST00000646441.1 1 1 0 0 0 5 19 EFNB2:single_exon:E2 1.000000 284 EFNB2:exon_block:E2-E3 1.000000 377 EFNB2:boundary_CDS_coverage:after_E1 1.000000 877 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EFTUD2 ENST00000426333.7 170 125 71 1 44 28 157 EFTUD2:single_exon:E26 0.100000 154 EFTUD2:exon_block:E22-E26 0.270588 583 EFTUD2:boundary_CDS_coverage:after_E1 1.000000 2916 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EGF ENST00000265171.10 2 1 1 0 1 24 133 EGF:single_exon:E22 0.500000 118 EGF:exon_block:E22-E23 0.500000 197 EGF:boundary_CDS_coverage:after_E7 1.000000 2432 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EGFR ENST00000275493.7 115 93 34 0 22 28 157 EGFR:single_exon:E20 0.147826 186 EGFR:exon_block:E17-E21 0.408696 706 EGFR:boundary_CDS_coverage:after_E1 1.000000 3542 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EGLN1 ENST00000366641.4 15 14 3 0 1 5 19 EGLN1:single_exon:E1 0.533333 1290 EGLN1:exon_block:E1-E3 1.000000 1547 EGLN1:boundary_CDS_coverage:after_E2 0.466667 267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EGR2 ENST00000242480.4 18 18 0 0 0 2 4 EGR2:single_exon:E2 1.000000 2473 EGR2:exon_block:E1-E2 1.000000 2979 EGR2:boundary_CDS_coverage:after_E1 1.000000 1259 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EHBP1L1 ENST00000309295.9 1 0 1 0 1 19 103 EHBP1L1:single_exon:E5 1.000000 179 EHBP1L1:exon_block:E4-E5 1.000000 233 EHBP1L1:boundary_CDS_coverage:after_E5 1.000000 4078 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EHMT1 ENST00000460843.6 256 209 78 0 47 27 151 EHMT1:single_exon:E3 0.093750 557 EHMT1:exon_block:E16-E20 0.230469 653 EHMT1:boundary_CDS_coverage:after_E1 0.992188 3873 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EHMT2 ENST00000375537.9 7 7 0 0 0 28 157 EHMT2:single_exon:E26 0.428571 79 EHMT2:exon_block:E26-E28 1.000000 761 EHMT2:boundary_CDS_coverage:after_E25 1.000000 433 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EI24 ENST00000278903.11 1 1 0 0 0 11 55 EI24:single_exon:E9 1.000000 112 EI24:exon_block:E9-E10 1.000000 187 EI24:boundary_CDS_coverage:after_E8 1.000000 347 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF1AX ENST00000379607.10 1 1 0 0 0 7 31 EIF1AX:single_exon:E5 1.000000 82 EIF1AX:exon_block:E4-E5 1.000000 133 EIF1AX:boundary_CDS_coverage:after_E4 1.000000 177 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2AK1 ENST00000199389.11 3 0 0 3 0 15 79 EIF2AK1:single_exon:E15 1.000000 2555 EIF2AK1:exon_block:E14-E15 1.000000 2789 EIF2AK1:boundary_CDS_coverage:after_E14 1.000000 126 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2AK2 ENST00000233057.9 4 3 2 0 1 17 91 EIF2AK2:single_exon:E5 0.500000 149 EIF2AK2:exon_block:E5-E6 0.750000 276 EIF2AK2:boundary_CDS_coverage:after_E4 1.000000 1413 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2AK3 ENST00000303236.9 105 85 35 0 20 17 91 EIF2AK3:single_exon:E13 0.171429 781 EIF2AK3:exon_block:E9-E13 0.457143 1388 EIF2AK3:boundary_CDS_coverage:after_E1 0.923810 3040 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2AK4 ENST00000263791.10 77 64 31 0 13 39 223 EIF2AK4:single_exon:E9 0.090909 536 EIF2AK4:exon_block:E9-E13 0.272727 1302 EIF2AK4:boundary_CDS_coverage:after_E1 0.987013 4803 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2B1 ENST00000424014.7 36 30 8 0 6 9 43 EIF2B1:single_exon:E2 0.194444 102 EIF2B1:exon_block:E2-E6 0.583333 538 EIF2B1:boundary_CDS_coverage:after_E1 1.000000 902 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2B2 ENST00000266126.10 39 35 9 0 4 8 37 EIF2B2:single_exon:E4 0.256410 164 EIF2B2:exon_block:E4-E8 0.769231 3801 EIF2B2:boundary_CDS_coverage:after_E1 0.897436 890 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2B3 ENST00000360403.7 16 15 3 0 1 12 61 EIF2B3:single_exon:E7 0.187500 128 EIF2B3:exon_block:E3-E7 0.625000 636 EIF2B3:boundary_CDS_coverage:after_E1 1.000000 1356 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2B4 ENST00000347454.9 37 29 11 0 8 13 67 EIF2B4:single_exon:E7 0.162162 115 EIF2B4:exon_block:E7-E11 0.567568 601 EIF2B4:boundary_CDS_coverage:after_E1 1.000000 1538 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2B5 ENST00000648915.2 117 102 24 1 14 16 85 EIF2B5:single_exon:E7 0.213675 313 EIF2B5:exon_block:E6-E10 0.529915 781 EIF2B5:boundary_CDS_coverage:after_E1 0.974359 1968 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF2S3 ENST00000253039.9 8 8 1 0 0 12 61 EIF2S3:single_exon:E5 0.250000 95 EIF2S3:exon_block:E5-E8 0.750000 484 EIF2S3:boundary_CDS_coverage:after_E4 1.000000 1033 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF3F ENST00000651655.1 4 4 0 0 0 8 37 EIF3F:single_exon:E5 0.500000 92 EIF3F:exon_block:E5-E6 0.750000 229 EIF3F:boundary_CDS_coverage:after_E4 0.750000 418 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF4A2 ENST00000323963.10 18 17 2 0 1 11 55 EIF4A2:single_exon:E7 0.222222 144 EIF4A2:exon_block:E3-E7 0.611111 696 EIF4A2:boundary_CDS_coverage:after_E2 0.944444 1146 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF4A3 ENST00000649764.2 1 1 0 0 0 12 61 EIF4A3:single_exon:E8 1.000000 139 EIF4A3:exon_block:E8-E9 1.000000 255 EIF4A3:boundary_CDS_coverage:after_E7 1.000000 505 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF4G3 ENST00000602326.6 1 1 0 0 0 37 211 EIF4G3:single_exon:E37 1.000000 1022 EIF4G3:exon_block:E36-E37 1.000000 1169 EIF4G3:boundary_CDS_coverage:after_E36 1.000000 179 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EIF5A ENST00000336458.13 14 12 2 0 2 6 24 EIF5A:single_exon:E4 0.428571 132 EIF5A:exon_block:E2-E5 1.000000 497 EIF5A:boundary_CDS_coverage:after_E1 1.000000 462 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELAC2 ENST00000338034.9 82 60 32 0 22 24 133 ELAC2:single_exon:E1 0.121951 325 ELAC2:exon_block:E1-E5 0.292683 570 ELAC2:boundary_CDS_coverage:after_E1 0.890244 2233 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELANE ENST00000263621.2 111 100 19 0 11 5 19 ELANE:single_exon:E2 0.297297 157 ELANE:exon_block:E1-E5 1.000000 909 ELANE:boundary_CDS_coverage:after_E1 0.963964 734 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELF2 ENST00000686138.1 1 1 0 0 0 10 49 ELF2:single_exon:E3 1.000000 238 ELF2:exon_block:E2-E3 1.000000 323 ELF2:boundary_CDS_coverage:after_E1 1.000000 1779 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELF4 ENST00000308167.10 8 8 1 0 0 9 43 ELF4:single_exon:E7 0.375000 193 ELF4:exon_block:E5-E8 1.000000 847 ELF4:boundary_CDS_coverage:after_E4 1.000000 1649 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELFN1 ENST00000424383.5 5 5 0 0 0 4 13 ELFN1:single_exon:E4 1.000000 3643 ELFN1:exon_block:E3-E4 1.000000 3805 ELFN1:boundary_CDS_coverage:after_E1 1.000000 2484 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELMO2 ENST00000290246.11 7 4 3 0 3 22 121 ELMO2:single_exon:E13 0.285714 135 ELMO2:exon_block:E13-E17 0.571429 650 ELMO2:boundary_CDS_coverage:after_E6 1.000000 1917 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELMOD3 ENST00000409013.8 1 1 0 0 0 14 73 ELMOD3:single_exon:E12 1.000000 77 ELMOD3:exon_block:E12-E13 1.000000 205 ELMOD3:boundary_CDS_coverage:after_E11 1.000000 405 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELN ENST00000252034.12 196 136 96 0 60 33 187 ELN:single_exon:E20 0.091837 165 ELN:exon_block:E16-E20 0.260204 516 ELN:boundary_CDS_coverage:after_E1 0.948980 2090 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELOVL1 ENST00000372458.8 1 0 1 0 1 8 37 ELOVL1:single_exon:E6 1.000000 106 ELOVL1:exon_block:E5-E6 1.000000 163 ELOVL1:boundary_CDS_coverage:after_E5 1.000000 462 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELOVL4 ENST00000369816.5 27 23 4 0 4 6 25 ELOVL4:single_exon:E4 0.407407 172 ELOVL4:exon_block:E2-E6 0.962963 2639 ELOVL4:boundary_CDS_coverage:after_E1 0.962963 842 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELOVL5 ENST00000304434.11 2 2 0 0 0 8 37 ELOVL5:single_exon:E7 0.500000 135 ELOVL5:exon_block:E3-E7 1.000000 698 ELOVL5:boundary_CDS_coverage:after_E2 1.000000 839 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELP1 ENST00000374647.10 429 312 179 0 117 37 211 ELP1:single_exon:E11 0.062937 231 ELP1:exon_block:E11-E15 0.191142 792 ELP1:boundary_CDS_coverage:after_E1 1.000000 3996 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELP2 ENST00000358232.11 17 17 1 0 0 22 121 ELP2:single_exon:E13 0.176471 189 ELP2:exon_block:E13-E17 0.470588 486 ELP2:boundary_CDS_coverage:after_E3 1.000000 2190 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELP4 ENST00000640961.2 19 2 0 15 1 10 49 ELP4:single_exon:E10 0.789474 6932 ELP4:exon_block:E7-E10 0.842105 7337 ELP4:boundary_CDS_coverage:after_E2 1.000000 1013 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ELP6 ENST00000296149.9 1 1 0 0 0 7 31 ELP6:single_exon:E5 1.000000 202 ELP6:exon_block:E4-E5 1.000000 321 ELP6:boundary_CDS_coverage:after_E4 1.000000 475 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EMC1 ENST00000477853.6 99 72 41 0 27 23 127 EMC1:single_exon:E15 0.090909 150 EMC1:exon_block:E5-E9 0.272727 646 EMC1:boundary_CDS_coverage:after_E1 0.969697 2884 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EMC10 ENST00000334976.11 13 10 5 0 3 7 31 EMC10:single_exon:E3 0.307692 110 EMC10:exon_block:E1-E5 0.846154 622 EMC10:boundary_CDS_coverage:after_E1 0.846154 672 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EMD ENST00000369842.9 102 86 26 0 16 6 25 EMD:single_exon:E6 0.352941 642 EMD:exon_block:E2-E6 0.862745 1009 EMD:boundary_CDS_coverage:after_E1 0.882353 680 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EME2 ENST00000568449.7 4 0 0 3 0 8 37 EME2:single_exon:E1 0.750000 665 EME2:exon_block:E1-E2 0.750000 802 EME2:boundary_CDS_coverage:after_E7 0.000000 168 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EMG1 ENST00000599672.6 1 1 0 0 0 6 25 EMG1:single_exon:E2 1.000000 102 EMG1:exon_block:E2-E3 1.000000 244 EMG1:boundary_CDS_coverage:after_E1 1.000000 564 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EMILIN1 ENST00000380320.9 6 6 0 0 0 8 37 EMILIN1:single_exon:E4 0.500000 1929 EMILIN1:exon_block:E1-E5 1.000000 3008 EMILIN1:boundary_CDS_coverage:after_E3 0.666667 2537 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EML1 ENST00000262233.11 10 8 3 0 2 22 121 EML1:single_exon:E7 0.200000 150 EML1:exon_block:E4-E7 0.500000 444 EML1:boundary_CDS_coverage:after_E1 1.000000 2378 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EML6 ENST00000356458.8 1 1 0 0 0 42 241 EML6:single_exon:E19 1.000000 203 EML6:exon_block:E18-E19 1.000000 304 EML6:boundary_CDS_coverage:after_E18 1.000000 3335 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EMP2 ENST00000359543.8 3 2 1 0 1 5 19 EMP2:single_exon:E2 0.666667 138 EMP2:exon_block:E2-E3 1.000000 229 EMP2:boundary_CDS_coverage:after_E1 1.000000 501 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EMX2 ENST00000553456.5 6 4 4 0 2 3 8 EMX2:single_exon:E2 0.666667 185 EMX2:exon_block:E1-E3 1.000000 2595 EMX2:boundary_CDS_coverage:after_E1 0.833333 350 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EN1 ENST00000295206.7 1 1 0 0 0 2 4 EN1:single_exon:E1 1.000000 1343 EN1:exon_block:E1-E2 1.000000 2427 EN1:boundary_CDS_coverage:after_E1 0.000000 314 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENAM ENST00000396073.4 15 12 5 0 3 9 43 ENAM:single_exon:E9 0.400000 4810 ENAM:exon_block:E6-E9 0.666667 5188 ENAM:boundary_CDS_coverage:after_E1 1.000000 3426 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENG ENST00000373203.9 607 493 176 2 111 15 79 ENG:single_exon:E12 0.128501 258 ENG:exon_block:E4-E8 0.469522 774 ENG:boundary_CDS_coverage:after_E1 0.963756 1907 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENO3 ENST00000519602.6 4 3 2 0 1 12 61 ENO3:single_exon:E10 0.500000 109 ENO3:exon_block:E9-E10 0.750000 311 ENO3:boundary_CDS_coverage:after_E2 1.000000 1217 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENOSF1 ENST00000647584.2 4 0 0 1 0 16 85 ENOSF1:single_exon:E16 0.250000 4089 ENOSF1:exon_block:E15-E16 0.250000 4171 ENOSF1:boundary_CDS_coverage:after_E15 1.000000 99 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENPP1 ENST00000647893.1 95 74 34 0 21 25 139 ENPP1:single_exon:E25 0.105263 4815 ENPP1:exon_block:E21-E25 0.273684 5322 ENPP1:boundary_CDS_coverage:after_E1 0.915789 2535 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENTPD1 ENST00000371205.5 17 12 5 0 5 10 49 ENTPD1:single_exon:E6 0.294118 240 ENTPD1:exon_block:E5-E8 0.764706 775 ENTPD1:boundary_CDS_coverage:after_E1 1.000000 1514 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENTPD2 ENST00000355097.7 1 1 0 0 0 9 43 ENTPD2:single_exon:E8 1.000000 135 ENTPD2:exon_block:E7-E8 1.000000 255 ENTPD2:boundary_CDS_coverage:after_E7 1.000000 336 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENTPD5 ENST00000334696.11 22 0 0 0 0 16 85 ENTPD5:single_exon:E8 0.000000 36 ENTPD5:exon_block:E7-E8 0.000000 112 ENTPD5:boundary_CDS_coverage:after_E15 1.000000 84 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ENTREP2 ENST00000261275.5 2 0 0 0 2 11 55 ENTREP2:single_exon:E2 0.000000 57 ENTREP2:exon_block:E2-E3 0.000000 168 ENTREP2:boundary_CDS_coverage:after_E2 1.000000 1341 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EOGT ENST00000383701.8 13 8 8 0 5 18 97 EOGT:single_exon:E10 0.153846 104 EOGT:exon_block:E10-E14 0.384615 425 EOGT:boundary_CDS_coverage:after_E1 1.000000 1581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EP300 ENST00000263253.9 264 236 49 2 26 31 175 EP300:single_exon:E31 0.250000 3305 EP300:exon_block:E27-E31 0.416667 4080 EP300:boundary_CDS_coverage:after_E1 0.992424 7148 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPAS1 ENST00000263734.5 8 8 0 0 0 16 85 EPAS1:single_exon:E12 1.000000 491 EPAS1:exon_block:E11-E12 1.000000 602 EPAS1:boundary_CDS_coverage:after_E11 1.000000 1056 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPB41 ENST00000343067.9 36 33 8 0 3 21 114 EPB41:single_exon:E11 0.138889 173 EPB41:exon_block:E3-E7 0.444444 656 EPB41:boundary_CDS_coverage:after_E2 1.000000 2124 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPB41L1 ENST00000338074.7 1 1 0 0 0 22 121 EPB41L1:single_exon:E15 1.000000 411 EPB41L1:exon_block:E15-E16 1.000000 516 EPB41L1:boundary_CDS_coverage:after_E14 1.000000 975 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPB41L4A ENST00000261486.6 1 1 0 0 0 23 127 EPB41L4A:single_exon:E15 1.000000 114 EPB41L4A:exon_block:E15-E16 1.000000 162 EPB41L4A:boundary_CDS_coverage:after_E14 1.000000 796 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPB42 ENST00000441366.7 19 18 4 0 1 13 67 EPB42:single_exon:E11 0.210526 161 EPB42:exon_block:E2-E6 0.473684 822 EPB42:boundary_CDS_coverage:after_E1 1.000000 2063 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPCAM ENST00000263735.9 49 32 20 1 16 9 43 EPCAM:single_exon:E3 0.204082 241 EPCAM:exon_block:E2-E6 0.673469 581 EPCAM:boundary_CDS_coverage:after_E1 0.857143 866 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPG5 ENST00000282041.11 213 178 65 0 35 44 253 EPG5:single_exon:E2 0.103286 945 EPG5:exon_block:E1-E5 0.197183 1587 EPG5:boundary_CDS_coverage:after_E1 0.990610 7674 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPHA10 ENST00000373048.9 1 0 0 0 0 17 91 EPHA10:single_exon:E9 0.000000 62 EPHA10:exon_block:E8-E9 0.000000 171 EPHA10:boundary_CDS_coverage:after_E16 0.000000 112 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPHA2 ENST00000358432.8 17 11 7 1 5 17 91 EPHA2:single_exon:E17 0.352941 984 EPHA2:exon_block:E14-E17 0.705882 1484 EPHA2:boundary_CDS_coverage:after_E2 0.941176 2775 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPHA4 ENST00000281821.7 2 2 0 0 0 18 96 EPHA4:single_exon:E8 0.500000 112 EPHA4:exon_block:E8-E9 0.500000 171 EPHA4:boundary_CDS_coverage:after_E7 1.000000 1355 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPHB2 ENST00000374630.8 2 2 0 0 0 16 85 EPHB2:single_exon:E12 1.000000 216 EPHB2:exon_block:E12-E13 1.000000 366 EPHB2:boundary_CDS_coverage:after_E11 1.000000 822 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPHB4 ENST00000358173.8 135 113 31 0 22 17 91 EPHB4:single_exon:E14 0.111111 150 EPHB4:exon_block:E11-E15 0.392593 922 EPHB4:boundary_CDS_coverage:after_E1 0.962963 2909 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPHX1 ENST00000272167.10 1 1 0 0 0 9 43 EPHX1:single_exon:E3 1.000000 181 EPHX1:exon_block:E2-E3 1.000000 369 EPHX1:boundary_CDS_coverage:after_E2 1.000000 1182 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPM2A ENST00000367519.9 55 49 8 0 6 4 13 EPM2A:single_exon:E1 0.490909 323 EPM2A:exon_block:E1-E4 1.000000 3129 EPM2A:boundary_CDS_coverage:after_E1 0.563636 692 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPO ENST00000252723.3 3 3 1 0 0 5 19 EPO:single_exon:E2 0.666667 146 EPO:exon_block:E2-E5 1.000000 1136 EPO:boundary_CDS_coverage:after_E1 1.000000 566 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPOR ENST00000222139.11 5 5 0 0 0 8 37 EPOR:single_exon:E8 0.800000 1389 EPOR:exon_block:E4-E8 1.000000 1877 EPOR:boundary_CDS_coverage:after_E3 1.000000 1097 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPRS1 ENST00000366923.8 18 17 3 0 1 32 181 EPRS1:single_exon:E12 0.111111 60 EPRS1:exon_block:E24-E28 0.333333 710 EPRS1:boundary_CDS_coverage:after_E6 1.000000 3913 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPS8 ENST00000281172.10 13 9 6 0 4 21 115 EPS8:single_exon:E8 0.230769 137 EPS8:exon_block:E6-E10 0.538462 571 EPS8:boundary_CDS_coverage:after_E2 1.000000 2407 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EPS8L2 ENST00000318562.13 26 25 4 0 1 21 115 EPS8L2:single_exon:E15 0.115385 113 EPS8L2:exon_block:E9-E13 0.423077 508 EPS8L2:boundary_CDS_coverage:after_E3 1.000000 2045 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERAL1 ENST00000254928.10 1 1 1 0 0 10 49 ERAL1:single_exon:E6 1.000000 113 ERAL1:exon_block:E5-E6 1.000000 175 ERAL1:boundary_CDS_coverage:after_E5 1.000000 713 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERAP1 ENST00000443439.7 3 0 0 0 0 19 103 ERAP1:single_exon:E10 0.000000 72 ERAP1:exon_block:E9-E10 0.000000 204 ERAP1:boundary_CDS_coverage:after_E18 1.000000 153 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERBB2 ENST00000269571.10 25 25 5 0 0 27 151 ERBB2:single_exon:E20 0.480000 186 ERBB2:exon_block:E17-E21 0.760000 703 ERBB2:boundary_CDS_coverage:after_E7 1.000000 2864 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERBB3 ENST00000267101.8 21 13 11 0 8 28 157 ERBB3:single_exon:E2 0.142857 152 ERBB3:exon_block:E2-E4 0.333333 465 ERBB3:boundary_CDS_coverage:after_E1 1.000000 3944 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERBB4 ENST00000342788.9 10 7 3 0 3 28 157 ERBB4:single_exon:E7 0.200000 142 ERBB4:exon_block:E7-E9 0.300000 383 ERBB4:boundary_CDS_coverage:after_E1 0.900000 3842 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERC1 ENST00000360905.9 1 1 1 0 0 19 103 ERC1:single_exon:E18 1.000000 189 ERC1:exon_block:E17-E18 1.000000 288 ERC1:boundary_CDS_coverage:after_E17 1.000000 324 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERCC1 ENST00000300853.8 15 10 6 0 5 10 49 ERCC1:single_exon:E3 0.466667 216 ERCC1:exon_block:E3-E7 0.800000 597 ERCC1:boundary_CDS_coverage:after_E1 1.000000 891 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERCC2 ENST00000391945.10 226 161 89 0 65 23 127 ERCC2:single_exon:E21 0.141593 144 ERCC2:exon_block:E18-E22 0.393805 525 ERCC2:boundary_CDS_coverage:after_E1 1.000000 2275 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERCC3 ENST00000285398.7 62 53 21 0 9 15 79 ERCC3:single_exon:E3 0.177419 237 ERCC3:exon_block:E3-E7 0.467742 793 ERCC3:boundary_CDS_coverage:after_E1 1.000000 2318 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERCC4 ENST00000311895.8 66 56 14 0 10 11 55 ERCC4:single_exon:E8 0.212121 598 ERCC4:exon_block:E4-E8 0.515152 1227 ERCC4:boundary_CDS_coverage:after_E1 0.909091 2541 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERCC5 ENST00000652225.2 75 68 15 0 7 15 79 ERCC5:single_exon:E8 0.226667 1074 ERCC5:exon_block:E7-E11 0.466667 1861 ERCC5:boundary_CDS_coverage:after_E1 0.973333 3470 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERCC6 ENST00000355832.10 349 284 91 0 65 21 115 ERCC6:single_exon:E18 0.177650 708 ERCC6:exon_block:E15-E19 0.332378 1274 ERCC6:boundary_CDS_coverage:after_E1 1.000000 4479 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERCC6L2 ENST00000653738.2 59 52 9 1 6 19 103 ERCC6L2:single_exon:E16 0.271186 1156 ERCC6L2:exon_block:E14-E18 0.508475 1727 ERCC6L2:boundary_CDS_coverage:after_E1 0.949153 4604 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERCC8 ENST00000676185.1 126 92 51 0 32 12 61 ERCC8:single_exon:E4 0.142857 124 ERCC8:exon_block:E3-E7 0.500000 444 ERCC8:boundary_CDS_coverage:after_E1 0.952381 1111 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERF ENST00000222329.9 55 53 5 0 2 4 13 ERF:single_exon:E4 0.600000 2170 ERF:exon_block:E1-E4 0.981818 2672 ERF:boundary_CDS_coverage:after_E1 0.963636 1622 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERG ENST00000288319.12 3 3 1 0 0 10 49 ERG:single_exon:E5 0.333333 81 ERG:exon_block:E4-E5 0.666667 285 ERG:boundary_CDS_coverage:after_E3 1.000000 1049 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERGIC1 ENST00000393784.8 2 2 0 0 0 10 49 ERGIC1:single_exon:E5 0.500000 125 ERGIC1:exon_block:E4-E5 0.500000 220 ERGIC1:boundary_CDS_coverage:after_E4 1.000000 620 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERGIC2 ENST00000360150.9 1 0 1 0 1 14 73 ERGIC2:single_exon:E8 1.000000 96 ERGIC2:exon_block:E8-E9 1.000000 152 ERGIC2:boundary_CDS_coverage:after_E8 1.000000 559 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERGIC3 ENST00000348547.7 1 1 0 0 0 13 67 ERGIC3:single_exon:E10 1.000000 65 ERGIC3:exon_block:E9-E10 1.000000 162 ERGIC3:boundary_CDS_coverage:after_E9 1.000000 335 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERI1 ENST00000250263.8 13 12 1 0 1 7 31 ERI1:single_exon:E3 0.307692 211 ERI1:exon_block:E3-E7 0.923077 4067 ERI1:boundary_CDS_coverage:after_E2 0.923077 760 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERLEC1 ENST00000185150.9 4 4 3 0 0 14 73 ERLEC1:single_exon:E4 0.500000 78 ERLEC1:exon_block:E4-E5 0.500000 142 ERLEC1:boundary_CDS_coverage:after_E3 1.000000 1101 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERLIN1 ENST00000421367.7 5 4 2 0 1 11 55 ERLIN1:single_exon:E4 0.400000 62 ERLIN1:exon_block:E2-E4 0.800000 191 ERLIN1:boundary_CDS_coverage:after_E1 1.000000 931 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERLIN2 ENST00000519638.3 34 29 15 0 5 12 61 ERLIN2:single_exon:E6 0.176471 126 ERLIN2:exon_block:E4-E8 0.500000 368 ERLIN2:boundary_CDS_coverage:after_E1 1.000000 1017 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERMAP ENST00000372517.8 1 1 0 0 0 12 61 ERMAP:single_exon:E4 1.000000 348 ERMAP:exon_block:E3-E4 1.000000 438 ERMAP:boundary_CDS_coverage:after_E3 1.000000 1340 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ERMARD ENST00000366773.8 4 2 2 0 2 18 97 ERMARD:single_exon:E6 0.250000 98 ERMARD:exon_block:E3-E6 0.500000 430 ERMARD:boundary_CDS_coverage:after_E2 1.000000 1859 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESAM ENST00000278927.10 7 4 3 0 3 7 31 ESAM:single_exon:E3 0.285714 202 ESAM:exon_block:E1-E5 0.857143 866 ESAM:boundary_CDS_coverage:after_E1 0.857143 1100 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESCO2 ENST00000305188.13 155 128 41 0 27 11 55 ESCO2:single_exon:E3 0.470968 808 ESCO2:exon_block:E3-E7 0.741935 1210 ESCO2:boundary_CDS_coverage:after_E1 1.000000 1803 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESPN ENST00000645284.1 26 21 10 0 5 13 67 ESPN:single_exon:E13 0.230769 946 ESPN:exon_block:E9-E13 0.615385 1448 ESPN:boundary_CDS_coverage:after_E1 0.884615 2268 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESR1 ENST00000206249.8 6 4 0 0 1 8 37 ESR1:single_exon:E5 0.333333 139 ESR1:exon_block:E2-E6 0.666667 917 ESR1:boundary_CDS_coverage:after_E1 1.000000 1333 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESR2 ENST00000341099.6 1 1 0 0 0 9 43 ESR2:single_exon:E5 1.000000 300 ESR2:exon_block:E4-E5 1.000000 417 ESR2:boundary_CDS_coverage:after_E4 1.000000 938 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESRP1 ENST00000433389.8 2 2 0 0 0 16 84 ESRP1:single_exon:E7 0.500000 111 ESRP1:exon_block:E7-E8 1.000000 244 ESRP1:boundary_CDS_coverage:after_E6 1.000000 1399 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESRP2 ENST00000473183.7 2 2 1 0 0 15 79 ESRP2:single_exon:E8 0.500000 133 ESRP2:exon_block:E8-E12 1.000000 890 ESRP2:boundary_CDS_coverage:after_E7 1.000000 1330 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESRRB ENST00000644823.1 25 20 4 2 3 7 31 ESRRB:single_exon:E6 0.320000 270 ESRRB:exon_block:E3-E7 0.960000 4284 ESRRB:boundary_CDS_coverage:after_E1 1.000000 1312 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESRRG ENST00000408911.8 5 5 0 0 0 7 31 ESRRG:single_exon:E3 0.400000 117 ESRRG:exon_block:E3-E7 0.800000 4593 ESRRG:boundary_CDS_coverage:after_E1 1.000000 1318 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ESX1 ENST00000372588.4 1 1 0 0 0 4 13 ESX1:single_exon:E4 1.000000 859 ESX1:exon_block:E3-E4 1.000000 905 ESX1:boundary_CDS_coverage:after_E3 1.000000 666 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETFA ENST00000557943.6 87 62 39 1 24 12 61 ETFA:single_exon:E7 0.172414 102 ETFA:exon_block:E3-E7 0.666667 478 ETFA:boundary_CDS_coverage:after_E1 0.942529 960 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETFB ENST00000309244.9 39 29 15 0 10 6 25 ETFB:single_exon:E2 0.358974 159 ETFB:exon_block:E2-E6 0.923077 753 ETFB:boundary_CDS_coverage:after_E1 0.974359 708 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETFDH ENST00000511912.6 301 254 78 0 47 13 67 ETFDH:single_exon:E3 0.136213 230 ETFDH:exon_block:E9-E13 0.471761 1978 ETFDH:boundary_CDS_coverage:after_E1 0.983389 1817 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETHE1 ENST00000292147.7 97 74 38 0 23 7 31 ETHE1:single_exon:E4 0.247423 130 ETHE1:exon_block:E1-E5 0.865979 619 ETHE1:boundary_CDS_coverage:after_E1 0.814433 681 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETS1 ENST00000392668.8 2 2 0 0 0 10 49 ETS1:single_exon:E3 0.500000 145 ETS1:exon_block:E2-E3 0.500000 228 ETS1:boundary_CDS_coverage:after_E2 1.000000 1386 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETV2 ENST00000402764.6 2 2 0 0 0 7 31 ETV2:single_exon:E6 0.500000 113 ETV2:exon_block:E5-E6 1.000000 593 ETV2:boundary_CDS_coverage:after_E4 1.000000 791 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETV4 ENST00000319349.10 1 1 0 0 0 13 67 ETV4:single_exon:E13 1.000000 898 ETV4:exon_block:E12-E13 1.000000 1000 ETV4:boundary_CDS_coverage:after_E12 1.000000 222 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETV5 ENST00000306376.10 1 1 0 0 0 13 67 ETV5:single_exon:E7 1.000000 288 ETV5:exon_block:E6-E7 1.000000 418 ETV5:boundary_CDS_coverage:after_E6 1.000000 1168 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ETV6 ENST00000396373.9 55 40 18 0 15 8 37 ETV6:single_exon:E5 0.254545 546 ETV6:exon_block:E3-E7 0.854545 1090 ETV6:boundary_CDS_coverage:after_E1 1.000000 1323 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EVC ENST00000264956.11 320 251 103 3 65 21 115 EVC:single_exon:E1 0.128125 354 EVC:exon_block:E6-E10 0.300000 762 EVC:boundary_CDS_coverage:after_E1 0.875000 2802 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EVC2 ENST00000344408.10 336 269 94 0 67 22 121 EVC2:single_exon:E14 0.110119 455 EVC2:exon_block:E10-E14 0.339286 1356 EVC2:boundary_CDS_coverage:after_E1 0.931548 3696 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EVI2A ENST00000462804.3 3 0 0 0 0 2 4 EVI2A:single_exon:E1 0.000000 128 EVI2A:exon_block:E1-E2 0.000000 2742 EVI2A:boundary_CDS_coverage:after_E1 0.000000 708 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EVX2 ENST00000308618.5 1 0 0 0 0 3 8 EVX2:single_exon:E2 0.000000 272 EVX2:exon_block:E1-E2 0.000000 885 EVX2:boundary_CDS_coverage:after_E2 1.000000 729 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXO1 ENST00000366548.8 1 1 0 0 0 16 85 EXO1:single_exon:E4 1.000000 178 EXO1:exon_block:E3-E4 1.000000 283 EXO1:boundary_CDS_coverage:after_E1 1.000000 2538 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOC2 ENST00000230449.9 1 1 0 0 0 28 157 EXOC2:single_exon:E16 1.000000 122 EXOC2:exon_block:E16-E17 1.000000 184 EXOC2:boundary_CDS_coverage:after_E15 1.000000 1105 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOC3L2 ENST00000413988.3 3 3 1 0 0 12 61 EXOC3L2:single_exon:E5 0.333333 102 EXOC3L2:exon_block:E5-E7 0.666667 314 EXOC3L2:boundary_CDS_coverage:after_E4 1.000000 1137 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOC4 ENST00000253861.5 1 1 1 0 0 18 97 EXOC4:single_exon:E11 1.000000 220 EXOC4:exon_block:E10-E11 1.000000 317 EXOC4:boundary_CDS_coverage:after_E10 1.000000 1408 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOC6B ENST00000272427.11 13 8 6 0 5 22 121 EXOC6B:single_exon:E8 0.230769 69 EXOC6B:exon_block:E7-E11 0.461538 498 EXOC6B:boundary_CDS_coverage:after_E3 1.000000 2106 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOC7 ENST00000589210.6 5 4 2 0 1 19 103 EXOC7:single_exon:E7 0.200000 93 EXOC7:exon_block:E7-E9 0.600000 392 EXOC7:boundary_CDS_coverage:after_E2 1.000000 1926 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOC8 ENST00000366645.1 2 2 0 0 0 1 1 EXOC8:single_exon:E1 1.000000 5100 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOSC1 ENST00000370902.8 1 1 0 0 0 8 37 EXOSC1:single_exon:E2 1.000000 116 EXOSC1:exon_block:E1-E2 1.000000 168 EXOSC1:boundary_CDS_coverage:after_E1 1.000000 554 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOSC2 ENST00000372358.10 2 2 0 0 0 9 43 EXOSC2:single_exon:E7 1.000000 177 EXOSC2:exon_block:E6-E7 1.000000 246 EXOSC2:boundary_CDS_coverage:after_E6 1.000000 384 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOSC3 ENST00000327304.10 50 46 7 0 4 4 13 EXOSC3:single_exon:E1 0.460000 344 EXOSC3:exon_block:E1-E4 1.000000 1813 EXOSC3:boundary_CDS_coverage:after_E1 0.540000 501 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOSC5 ENST00000221233.9 6 5 2 0 1 6 25 EXOSC5:single_exon:E3 0.333333 122 EXOSC5:exon_block:E3-E6 0.833333 705 EXOSC5:boundary_CDS_coverage:after_E2 0.833333 443 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOSC8 ENST00000389704.4 2 2 0 0 0 11 55 EXOSC8:single_exon:E1 0.500000 37 EXOSC8:exon_block:E1-E2 0.500000 74 EXOSC8:boundary_CDS_coverage:after_E5 0.500000 590 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXOSC9 ENST00000243498.10 31 23 10 0 8 12 61 EXOSC9:single_exon:E10 0.258065 182 EXOSC9:exon_block:E7-E11 0.516129 630 EXOSC9:boundary_CDS_coverage:after_E1 0.935484 1251 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXPH5 ENST00000265843.9 15 15 0 0 0 6 25 EXPH5:single_exon:E6 0.866667 9441 EXPH5:exon_block:E3-E6 0.933333 9792 EXPH5:boundary_CDS_coverage:after_E2 0.933333 5687 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXT1 ENST00000378204.7 516 440 117 1 75 11 55 EXT1:single_exon:E1 0.414729 1742 EXT1:exon_block:E1-E5 0.684109 2197 EXT1:boundary_CDS_coverage:after_E1 0.596899 1276 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXT2 ENST00000533608.7 221 182 70 0 39 14 73 EXT2:single_exon:E2 0.266968 566 EXT2:exon_block:E2-E6 0.692308 1109 EXT2:boundary_CDS_coverage:after_E1 1.000000 2154 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EXTL3 ENST00000220562.9 2 2 0 0 0 7 31 EXTL3:single_exon:E3 1.000000 2623 EXTL3:exon_block:E2-E3 1.000000 2717 EXTL3:boundary_CDS_coverage:after_E1 1.000000 2757 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EYA1 ENST00000340726.8 198 151 70 0 47 18 97 EYA1:single_exon:E17 0.111111 101 EYA1:exon_block:E14-E18 0.474747 2487 EYA1:boundary_CDS_coverage:after_E4 1.000000 1574 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EYA4 ENST00000355286.12 87 68 32 0 19 20 109 EYA4:single_exon:E8 0.137931 143 EYA4:exon_block:E8-E12 0.413793 670 EYA4:boundary_CDS_coverage:after_E1 1.000000 1917 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EYS ENST00000503581.6 1068 917 236 0 151 43 247 EYS:single_exon:E26 0.158240 1767 EYS:exon_block:E26-E30 0.231273 2314 EYS:boundary_CDS_coverage:after_E1 1.000000 9432 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EZH1 ENST00000428826.7 5 3 3 0 2 21 115 EZH1:single_exon:E19 0.200000 81 EZH1:exon_block:E13-E15 0.400000 259 EZH1:boundary_CDS_coverage:after_E9 1.000000 1310 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true EZH2 ENST00000320356.7 39 39 8 0 0 20 109 EZH2:single_exon:E20 0.230769 324 EZH2:exon_block:E16-E20 0.692308 668 EZH2:boundary_CDS_coverage:after_E4 1.000000 1890 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F10 ENST00000375559.8 43 39 7 0 4 8 37 F10:single_exon:E8 0.372093 614 F10:exon_block:E4-E8 0.651163 1223 F10:boundary_CDS_coverage:after_E1 0.976744 1394 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F11 ENST00000403665.7 216 175 65 0 41 15 79 F11:single_exon:E12 0.148148 176 F11:exon_block:E9-E13 0.449074 711 F11:boundary_CDS_coverage:after_E1 1.000000 1875 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F12 ENST00000253496.4 19 13 5 0 6 14 73 F12:single_exon:E13 0.157895 149 F12:exon_block:E5-E9 0.526316 732 F12:boundary_CDS_coverage:after_E4 1.000000 1559 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F13A1 ENST00000264870.8 50 43 13 0 7 15 79 F13A1:single_exon:E7 0.140000 175 F13A1:exon_block:E3-E7 0.500000 843 F13A1:boundary_CDS_coverage:after_E1 1.000000 2196 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F13B ENST00000367412.2 16 14 4 0 2 12 61 F13B:single_exon:E2 0.187500 201 F13B:exon_block:E1-E5 0.562500 842 F13B:boundary_CDS_coverage:after_E1 0.937500 1919 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F2 ENST00000311907.10 39 36 7 0 3 14 73 F2:single_exon:E14 0.230769 242 F2:exon_block:E8-E12 0.538462 780 F2:boundary_CDS_coverage:after_E2 0.974359 1626 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F5 ENST00000367797.9 109 96 19 0 13 25 139 F5:single_exon:E13 0.366972 2821 F5:exon_block:E13-E17 0.522936 3624 F5:boundary_CDS_coverage:after_E1 0.981651 6514 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F7 ENST00000346342.8 91 74 17 1 12 8 37 F7:single_exon:E8 0.483516 2273 F7:exon_block:E4-E8 0.758242 2762 F7:boundary_CDS_coverage:after_E1 0.923077 1268 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F8 ENST00000360256.9 641 589 118 1 49 26 145 F8:single_exon:E14 0.157566 3106 F8:exon_block:E14-E18 0.315133 3885 F8:boundary_CDS_coverage:after_E1 0.982839 6910 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true F9 ENST00000218099.7 299 270 62 4 21 8 37 F9:single_exon:E8 0.414716 1936 F9:exon_block:E4-E8 0.775920 2497 F9:boundary_CDS_coverage:after_E1 0.956522 1295 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FA2H ENST00000219368.8 63 55 18 0 8 7 31 FA2H:single_exon:E1 0.365079 335 FA2H:exon_block:E1-E5 0.761905 851 FA2H:boundary_CDS_coverage:after_E1 0.634921 846 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAAH ENST00000243167.9 1 1 0 0 0 15 79 FAAH:single_exon:E4 1.000000 134 FAAH:exon_block:E3-E4 1.000000 269 FAAH:boundary_CDS_coverage:after_E3 1.000000 1293 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAAH2 ENST00000374900.5 2 2 0 0 0 11 55 FAAH2:single_exon:E2 0.500000 83 FAAH2:exon_block:E2-E3 0.500000 220 FAAH2:boundary_CDS_coverage:after_E1 1.000000 1404 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAAP100 ENST00000327787.13 4 3 1 0 1 9 43 FAAP100:single_exon:E7 0.250000 117 FAAP100:exon_block:E3-E7 0.750000 2137 FAAP100:boundary_CDS_coverage:after_E2 1.000000 2353 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FADD ENST00000301838.5 2 2 0 0 0 2 4 FADD:single_exon:E1 0.500000 450 FADD:exon_block:E1-E2 1.000000 1708 FADD:boundary_CDS_coverage:after_E1 0.500000 338 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAH ENST00000561421.6 185 126 95 3 56 14 73 FAH:single_exon:E12 0.129730 102 FAH:exon_block:E8-E12 0.421622 456 FAH:boundary_CDS_coverage:after_E1 0.918919 1176 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAHD1 ENST00000427358.5 5 0 0 0 0 1 1 FAHD1:single_exon:E1 0.000000 1705 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM110C ENST00000327669.5 2 2 0 0 0 2 4 FAM110C:single_exon:E1 1.000000 1066 FAM110C:exon_block:E1-E2 1.000000 3880 FAM110C:boundary_CDS_coverage:after_E1 0.000000 17 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM111A ENST00000675163.1 7 7 0 0 0 6 25 FAM111A:single_exon:E6 1.000000 3290 FAM111A:exon_block:E5-E6 1.000000 3447 FAM111A:boundary_CDS_coverage:after_E5 1.000000 1752 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM111B ENST00000343597.4 7 7 0 0 0 4 13 FAM111B:single_exon:E4 1.000000 3234 FAM111B:exon_block:E3-E4 1.000000 3401 FAM111B:boundary_CDS_coverage:after_E3 1.000000 2121 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM120AOS ENST00000375412.11 1 1 0 0 0 3 8 FAM120AOS:single_exon:E3 1.000000 4366 FAM120AOS:exon_block:E2-E3 1.000000 4487 FAM120AOS:boundary_CDS_coverage:after_E2 1.000000 84 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM131B ENST00000443739.7 1 0 0 0 0 7 31 FAM131B:single_exon:E3 0.000000 36 FAM131B:exon_block:E3-E4 0.000000 130 FAM131B:boundary_CDS_coverage:after_E6 1.000000 470 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM136A ENST00000430566.6 1 1 1 0 0 3 8 FAM136A:single_exon:E2 1.000000 141 FAM136A:exon_block:E1-E2 1.000000 605 FAM136A:boundary_CDS_coverage:after_E1 1.000000 327 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM149B1 ENST00000242505.11 10 9 3 0 1 14 73 FAM149B1:single_exon:E7 0.200000 188 FAM149B1:exon_block:E3-E7 0.600000 746 FAM149B1:boundary_CDS_coverage:after_E2 1.000000 1594 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM161A ENST00000404929.6 188 176 22 0 12 7 31 FAM161A:single_exon:E3 0.601064 1161 FAM161A:exon_block:E1-E5 0.962766 1870 FAM161A:boundary_CDS_coverage:after_E1 0.930851 1965 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM167A ENST00000284486.9 1 0 0 0 0 3 8 FAM167A:single_exon:E1 0.000000 128 FAM167A:exon_block:E1-E2 0.000000 906 FAM167A:boundary_CDS_coverage:after_E2 0.000000 261 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM171A2 ENST00000293443.12 1 0 0 0 0 8 37 FAM171A2:single_exon:E3 0.000000 93 FAM171A2:exon_block:E6-E7 0.000000 244 FAM171A2:boundary_CDS_coverage:after_E7 1.000000 1456 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM177A1 ENST00000280987.9 6 4 0 0 1 5 19 FAM177A1:single_exon:E3 0.333333 67 FAM177A1:exon_block:E2-E3 0.666667 241 FAM177A1:boundary_CDS_coverage:after_E1 0.833333 543 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM186B ENST00000257894.2 1 0 1 0 1 7 31 FAM186B:single_exon:E4 1.000000 1666 FAM186B:exon_block:E3-E4 1.000000 1849 FAM186B:boundary_CDS_coverage:after_E3 1.000000 2174 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM20A ENST00000592554.2 45 30 22 0 14 11 55 FAM20A:single_exon:E6 0.155556 116 FAM20A:exon_block:E3-E7 0.488889 520 FAM20A:boundary_CDS_coverage:after_E1 0.866667 1219 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM20C ENST00000313766.6 27 23 5 0 4 10 49 FAM20C:single_exon:E6 0.222222 181 FAM20C:exon_block:E4-E8 0.666667 582 FAM20C:boundary_CDS_coverage:after_E1 0.777778 1147 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM222A ENST00000538780.2 1 1 0 0 0 3 8 FAM222A:single_exon:E3 1.000000 2484 FAM222A:exon_block:E2-E3 1.000000 2612 FAM222A:boundary_CDS_coverage:after_E2 1.000000 1274 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM50A ENST00000393600.8 5 4 0 0 0 13 67 FAM50A:single_exon:E9 0.800000 55 FAM50A:exon_block:E9-E10 0.800000 104 FAM50A:boundary_CDS_coverage:after_E8 0.800000 292 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM83H ENST00000388913.4 4 4 0 0 0 5 19 FAM83H:single_exon:E5 1.000000 4791 FAM83H:exon_block:E4-E5 1.000000 4916 FAM83H:boundary_CDS_coverage:after_E4 1.000000 2800 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAM98C ENST00000252530.10 1 1 0 0 0 8 37 FAM98C:single_exon:E7 1.000000 168 FAM98C:exon_block:E6-E7 1.000000 285 FAM98C:boundary_CDS_coverage:after_E6 1.000000 297 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAN1 ENST00000362065.9 59 54 9 0 5 15 78 FAN1:single_exon:E2 0.389831 1386 FAN1:exon_block:E2-E6 0.559322 2095 FAN1:boundary_CDS_coverage:after_E1 1.000000 3051 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCA ENST00000389301.8 955 683 401 2 270 43 247 FANCA:single_exon:E28 0.043979 177 FANCA:exon_block:E28-E32 0.152880 638 FANCA:boundary_CDS_coverage:after_E1 0.974869 4286 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCB ENST00000650831.1 31 24 6 1 3 10 49 FANCB:single_exon:E3 0.322581 1021 FANCB:exon_block:E3-E7 0.548387 1566 FANCB:boundary_CDS_coverage:after_E1 1.000000 2577 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCC ENST00000289081.8 301 234 105 0 67 15 79 FANCC:single_exon:E13 0.119601 175 FANCC:exon_block:E2-E6 0.388704 599 FANCC:boundary_CDS_coverage:after_E1 1.000000 1674 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCD2 ENST00000675286.1 279 200 118 0 79 44 253 FANCD2:single_exon:E33 0.050179 111 FANCD2:exon_block:E29-E33 0.168459 620 FANCD2:boundary_CDS_coverage:after_E1 1.000000 4353 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCD2OS ENST00000450660.3 72 0 0 0 0 2 4 FANCD2OS:single_exon:E1 0.000000 241 FANCD2OS:exon_block:E1-E2 0.000000 1087 FANCD2OS:boundary_CDS_coverage:after_E1 1.000000 531 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCE ENST00000229769.3 78 62 20 1 15 10 49 FANCE:single_exon:E2 0.333333 607 FANCE:exon_block:E1-E5 0.782051 1321 FANCE:boundary_CDS_coverage:after_E1 0.820513 1360 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCF ENST00000327470.6 57 57 0 0 0 1 1 FANCF:single_exon:E1 1.000000 3291 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCG ENST00000378643.8 213 165 78 0 48 14 73 FANCG:single_exon:E10 0.154930 290 FANCG:exon_block:E8-E12 0.413146 712 FANCG:boundary_CDS_coverage:after_E1 0.962441 1782 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCI ENST00000310775.12 284 215 103 0 68 38 217 FANCI:single_exon:E21 0.045775 177 FANCI:exon_block:E23-E27 0.204225 715 FANCI:boundary_CDS_coverage:after_E1 1.000000 3984 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCL ENST00000233741.9 120 91 53 0 29 14 73 FANCL:single_exon:E1 0.175000 108 FANCL:exon_block:E9-E13 0.400000 401 FANCL:boundary_CDS_coverage:after_E1 0.841667 1029 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FANCM ENST00000267430.10 201 178 36 0 23 23 127 FANCM:single_exon:E14 0.268657 1906 FANCM:exon_block:E11-E15 0.432836 2529 FANCM:boundary_CDS_coverage:after_E1 0.960199 5636 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAR1 ENST00000354817.8 15 13 4 0 2 12 61 FAR1:single_exon:E12 0.333333 3735 FAR1:exon_block:E8-E12 0.533333 4233 FAR1:boundary_CDS_coverage:after_E1 1.000000 1545 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FARS2 ENST00000274680.9 58 53 4 0 5 7 31 FARS2:single_exon:E2 0.396552 633 FARS2:exon_block:E2-E6 0.896552 1238 FARS2:boundary_CDS_coverage:after_E1 1.000000 1353 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FARSA ENST00000314606.9 4 4 0 0 0 13 67 FARSA:single_exon:E7 0.500000 116 FARSA:exon_block:E7-E11 1.000000 548 FARSA:boundary_CDS_coverage:after_E6 1.000000 799 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FARSB ENST00000281828.8 13 11 5 0 2 17 91 FARSB:single_exon:E8 0.153846 71 FARSB:exon_block:E6-E10 0.461538 445 FARSB:boundary_CDS_coverage:after_E1 1.000000 1709 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAS ENST00000652046.1 118 90 43 0 28 9 43 FAS:single_exon:E9 0.389831 2941 FAS:exon_block:E5-E9 0.677966 3174 FAS:boundary_CDS_coverage:after_E1 0.991525 975 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FASLG ENST00000367721.3 6 6 1 0 0 4 13 FASLG:single_exon:E4 0.666667 1255 FASLG:exon_block:E1-E4 1.000000 1805 FASLG:boundary_CDS_coverage:after_E3 0.666667 392 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FASN ENST00000306749.4 1 0 1 0 1 43 247 FASN:single_exon:E15 1.000000 116 FASN:exon_block:E15-E16 1.000000 289 FASN:boundary_CDS_coverage:after_E14 1.000000 5229 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FASTKD1 ENST00000453153.7 1 1 0 0 0 15 79 FASTKD1:single_exon:E13 1.000000 139 FASTKD1:exon_block:E12-E13 1.000000 253 FASTKD1:boundary_CDS_coverage:after_E12 1.000000 353 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FASTKD2 ENST00000402774.8 32 27 6 0 5 12 61 FASTKD2:single_exon:E2 0.312500 827 FASTKD2:exon_block:E2-E6 0.656250 1304 FASTKD2:boundary_CDS_coverage:after_E1 1.000000 2130 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FASTKD5 ENST00000380266.4 5 5 0 0 0 2 4 FASTKD5:single_exon:E2 1.000000 2742 FASTKD5:exon_block:E1-E2 1.000000 2842 FASTKD5:boundary_CDS_coverage:after_E1 1.000000 2292 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAT1 ENST00000441802.7 38 35 7 0 3 27 151 FAT1:single_exon:E10 0.289474 4068 FAT1:exon_block:E8-E12 0.447368 4906 FAT1:boundary_CDS_coverage:after_E1 1.000000 13764 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAT2 ENST00000261800.6 1 1 1 0 0 24 133 FAT2:single_exon:E4 1.000000 59 FAT2:exon_block:E4-E5 1.000000 371 FAT2:boundary_CDS_coverage:after_E3 1.000000 9473 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FAT4 ENST00000394329.9 67 61 8 0 6 18 97 FAT4:single_exon:E10 0.298507 4350 FAT4:exon_block:E6-E10 0.492537 5880 FAT4:boundary_CDS_coverage:after_E1 1.000000 14949 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBLN5 ENST00000342058.9 7 7 1 0 0 11 55 FBLN5:single_exon:E10 0.285714 196 FBLN5:exon_block:E8-E11 0.714286 1421 FBLN5:boundary_CDS_coverage:after_E3 1.000000 1220 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBN1 ENST00000316623.10 3554 3125 965 0 429 66 385 FBN1:single_exon:E64 0.028137 232 FBN1:exon_block:E62-E66 0.096230 3723 FBN1:boundary_CDS_coverage:after_E1 1.000000 8613 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBN2 ENST00000262464.9 122 91 49 0 31 65 379 FBN2:single_exon:E27 0.147541 126 FBN2:exon_block:E25-E29 0.467213 630 FBN2:boundary_CDS_coverage:after_E3 0.991803 8300 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBP1 ENST00000375326.9 57 48 14 0 9 7 31 FBP1:single_exon:E7 0.210526 440 FBP1:exon_block:E3-E7 0.771930 932 FBP1:boundary_CDS_coverage:after_E1 0.929825 844 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBRS ENST00000356166.11 2 2 0 0 0 18 97 FBRS:single_exon:E16 0.500000 84 FBRS:exon_block:E16-E18 1.000000 2034 FBRS:boundary_CDS_coverage:after_E15 1.000000 866 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBRSL1 ENST00000680143.1 1 1 1 0 0 19 103 FBRSL1:single_exon:E11 1.000000 96 FBRSL1:exon_block:E10-E11 1.000000 153 FBRSL1:boundary_CDS_coverage:after_E10 1.000000 1572 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXL3 ENST00000355619.10 4 4 0 0 0 5 19 FBXL3:single_exon:E5 0.750000 2529 FBXL3:exon_block:E3-E5 1.000000 2824 FBXL3:boundary_CDS_coverage:after_E2 1.000000 936 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXL4 ENST00000369244.7 85 79 14 0 6 10 49 FBXL4:single_exon:E5 0.235294 346 FBXL4:exon_block:E4-E8 0.682353 1461 FBXL4:boundary_CDS_coverage:after_E1 1.000000 1863 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXL5 ENST00000341285.8 266 0 0 0 0 11 55 FBXL5:single_exon:E8 0.000000 83 FBXL5:exon_block:E7-E8 0.000000 232 FBXL5:boundary_CDS_coverage:after_E10 1.000000 74 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXO11 ENST00000403359.8 145 116 45 0 28 23 127 FBXO11:single_exon:E23 0.137931 1328 FBXO11:exon_block:E12-E16 0.310345 608 FBXO11:boundary_CDS_coverage:after_E2 0.986207 2421 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXO22 ENST00000308275.8 4 4 0 0 0 7 31 FBXO22:single_exon:E6 0.500000 166 FBXO22:exon_block:E2-E6 0.750000 654 FBXO22:boundary_CDS_coverage:after_E1 0.750000 1069 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXO28 ENST00000366862.10 9 9 0 0 0 5 19 FBXO28:single_exon:E5 0.888889 4696 FBXO28:exon_block:E1-E5 1.000000 5427 FBXO28:boundary_CDS_coverage:after_E4 0.888889 392 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXO31 ENST00000311635.12 3 2 3 0 1 9 43 FBXO31:single_exon:E6 0.333333 110 FBXO31:exon_block:E6-E8 1.000000 665 FBXO31:boundary_CDS_coverage:after_E6 1.000000 775 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXO32 ENST00000517956.5 1 1 0 0 0 9 43 FBXO32:single_exon:E8 1.000000 144 FBXO32:exon_block:E7-E8 1.000000 327 FBXO32:boundary_CDS_coverage:after_E7 1.000000 231 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXO38 ENST00000340253.10 2 2 0 0 0 22 121 FBXO38:single_exon:E6 0.500000 138 FBXO38:exon_block:E6-E7 0.500000 276 FBXO38:boundary_CDS_coverage:after_E5 1.000000 2972 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXO43 ENST00000428847.3 4 4 0 0 0 5 19 FBXO43:single_exon:E2 0.500000 1486 FBXO43:exon_block:E2-E5 1.000000 2493 FBXO43:boundary_CDS_coverage:after_E1 1.000000 2039 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXO7 ENST00000266087.12 47 42 9 0 5 9 43 FBXO7:single_exon:E9 0.234043 686 FBXO7:exon_block:E2-E6 0.531915 845 FBXO7:boundary_CDS_coverage:after_E1 0.893617 1444 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXW11 ENST00000517395.6 8 8 0 0 0 14 72 FBXW11:single_exon:E11 0.375000 111 FBXW11:exon_block:E7-E11 1.000000 737 FBXW11:boundary_CDS_coverage:after_E6 1.000000 975 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FBXW7 ENST00000281708.10 31 28 2 0 3 14 73 FBXW7:single_exon:E14 0.258065 2606 FBXW7:exon_block:E10-E14 0.677419 3339 FBXW7:boundary_CDS_coverage:after_E1 1.000000 2121 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FCHO1 ENST00000596536.6 22 16 9 0 6 29 163 FCHO1:single_exon:E24 0.181818 156 FCHO1:exon_block:E4-E8 0.318182 536 FCHO1:boundary_CDS_coverage:after_E4 1.000000 2640 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FCN2 ENST00000291744.11 1 0 1 0 1 8 37 FCN2:single_exon:E6 1.000000 130 FCN2:exon_block:E5-E6 1.000000 258 FCN2:boundary_CDS_coverage:after_E6 1.000000 380 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FCN3 ENST00000270879.9 3 3 1 0 0 8 37 FCN3:single_exon:E3 0.666667 45 FCN3:exon_block:E3-E5 1.000000 206 FCN3:boundary_CDS_coverage:after_E2 1.000000 710 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FCSK ENST00000288078.11 5 2 2 1 2 24 133 FCSK:single_exon:E11 0.400000 113 FCSK:exon_block:E7-E11 0.600000 584 FCSK:boundary_CDS_coverage:after_E5 1.000000 2841 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FDFT1 ENST00000220584.9 3 1 0 0 1 8 37 FDFT1:single_exon:E7 0.333333 153 FDFT1:exon_block:E6-E7 0.333333 330 FDFT1:boundary_CDS_coverage:after_E6 0.666667 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FDPS ENST00000368356.9 4 1 2 0 3 11 55 FDPS:single_exon:E6 0.500000 123 FDPS:exon_block:E5-E6 0.750000 204 FDPS:boundary_CDS_coverage:after_E4 1.000000 777 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FDX2 ENST00000393708.3 3 3 1 0 0 5 19 FDX2:single_exon:E2 0.333333 55 FDX2:exon_block:E1-E5 1.000000 1012 FDX2:boundary_CDS_coverage:after_E1 0.666667 404 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FDXR ENST00000293195.10 25 19 6 0 6 12 61 FDXR:single_exon:E5 0.160000 114 FDXR:exon_block:E5-E9 0.520000 609 FDXR:boundary_CDS_coverage:after_E1 0.920000 1394 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FECH ENST00000262093.11 78 55 30 0 22 11 55 FECH:single_exon:E9 0.192308 165 FECH:exon_block:E6-E10 0.538462 539 FECH:boundary_CDS_coverage:after_E1 0.961538 1202 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FEM1B ENST00000306917.5 1 1 0 0 0 2 4 FEM1B:single_exon:E2 1.000000 6256 FEM1B:exon_block:E1-E2 1.000000 7177 FEM1B:boundary_CDS_coverage:after_E1 1.000000 1633 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FEM1C ENST00000274457.5 1 1 0 0 0 3 8 FEM1C:single_exon:E2 1.000000 734 FEM1C:exon_block:E1-E2 1.000000 987 FEM1C:boundary_CDS_coverage:after_E1 1.000000 1851 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FERMT1 ENST00000217289.9 51 35 17 0 16 15 79 FERMT1:single_exon:E3 0.176471 234 FERMT1:exon_block:E3-E7 0.411765 806 FERMT1:boundary_CDS_coverage:after_E1 1.000000 2031 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FERMT3 ENST00000345728.10 24 15 9 0 9 15 79 FERMT3:single_exon:E12 0.166667 234 FERMT3:exon_block:E10-E14 0.458333 733 FERMT3:boundary_CDS_coverage:after_E1 1.000000 1989 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FERRY3 ENST00000261250.8 19 17 5 0 2 14 73 FERRY3:single_exon:E4 0.157895 182 FERRY3:exon_block:E4-E8 0.578947 709 FERRY3:boundary_CDS_coverage:after_E1 1.000000 1656 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FEZF1 ENST00000442488.7 2 2 0 0 0 4 13 FEZF1:single_exon:E2 0.500000 135 FEZF1:exon_block:E1-E2 1.000000 1249 FEZF1:boundary_CDS_coverage:after_E1 0.500000 624 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FEZF2 ENST00000283268.8 5 5 0 0 0 5 19 FEZF2:single_exon:E5 0.400000 662 FEZF2:exon_block:E2-E5 1.000000 1840 FEZF2:boundary_CDS_coverage:after_E1 1.000000 1377 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FFAR1 ENST00000246553.4 1 1 0 0 0 2 4 FFAR1:single_exon:E2 1.000000 2660 FFAR1:exon_block:E1-E2 1.000000 5597 FFAR1:boundary_CDS_coverage:after_E1 1.000000 900 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FFAR4 ENST00000371481.9 1 0 0 0 0 3 8 FFAR4:single_exon:E2 0.000000 129 FFAR4:exon_block:E1-E2 0.000000 752 FFAR4:boundary_CDS_coverage:after_E2 1.000000 387 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGA ENST00000403106.8 57 50 7 0 5 5 19 FGA:single_exon:E5 0.561404 1644 FGA:exon_block:E2-E5 0.947368 2100 FGA:boundary_CDS_coverage:after_E1 1.000000 1878 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGB ENST00000302068.9 17 14 3 0 3 8 37 FGB:single_exon:E2 0.235294 192 FGB:exon_block:E4-E8 0.647059 3143 FGB:boundary_CDS_coverage:after_E1 1.000000 1359 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGD1 ENST00000375135.4 87 72 22 0 15 18 97 FGD1:single_exon:E4 0.114943 442 FGD1:exon_block:E4-E8 0.379310 977 FGD1:boundary_CDS_coverage:after_E1 0.919540 2576 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGD4 ENST00000534526.7 50 47 11 0 3 17 91 FGD4:single_exon:E4 0.140000 508 FGD4:exon_block:E13-E17 0.420000 6276 FGD4:boundary_CDS_coverage:after_E3 1.000000 2206 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF10 ENST00000264664.5 25 23 2 2 0 3 8 FGF10:single_exon:E1 0.520000 1063 FGF10:exon_block:E1-E3 1.000000 6113 FGF10:boundary_CDS_coverage:after_E1 0.480000 299 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF12 ENST00000445105.7 5 4 0 0 1 6 25 FGF12:single_exon:E4 0.400000 104 FGF12:exon_block:E4-E6 0.800000 5041 FGF12:boundary_CDS_coverage:after_E2 1.000000 530 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF13 ENST00000315930.11 6 6 0 0 0 5 19 FGF13:single_exon:E1 1.000000 901 FGF13:exon_block:E1-E2 1.000000 1012 FGF13:boundary_CDS_coverage:after_E4 0.000000 134 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF14 ENST00000376143.5 18 13 4 0 3 5 19 FGF14:single_exon:E4 0.555556 199 FGF14:exon_block:E1-E4 0.888889 907 FGF14:boundary_CDS_coverage:after_E1 0.833333 548 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF16 ENST00000439435.3 4 3 1 0 1 3 8 FGF16:single_exon:E3 0.750000 1002 FGF16:exon_block:E2-E3 1.000000 1106 FGF16:boundary_CDS_coverage:after_E1 1.000000 347 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF17 ENST00000359441.4 1 1 0 0 0 5 19 FGF17:single_exon:E5 1.000000 854 FGF17:exon_block:E4-E5 1.000000 961 FGF17:boundary_CDS_coverage:after_E4 1.000000 291 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF20 ENST00000180166.6 2 1 1 0 1 3 8 FGF20:single_exon:E2 0.500000 104 FGF20:exon_block:E2-E3 1.000000 1241 FGF20:boundary_CDS_coverage:after_E1 1.000000 347 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF23 ENST00000237837.2 13 12 1 0 1 3 8 FGF23:single_exon:E3 0.692308 2557 FGF23:exon_block:E1-E3 1.000000 3002 FGF23:boundary_CDS_coverage:after_E1 0.923077 542 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF3 ENST00000334134.4 26 24 4 0 2 3 8 FGF3:single_exon:E2 0.423077 104 FGF3:exon_block:E1-E3 1.000000 1540 FGF3:boundary_CDS_coverage:after_E1 0.807692 497 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF4 ENST00000168712.3 1 1 0 0 0 3 8 FGF4:single_exon:E1 1.000000 597 FGF4:exon_block:E1-E2 1.000000 701 FGF4:boundary_CDS_coverage:after_E2 0.000000 174 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF5 ENST00000312465.12 3 3 1 0 0 3 8 FGF5:single_exon:E2 0.333333 104 FGF5:exon_block:E1-E3 1.000000 5313 FGF5:boundary_CDS_coverage:after_E2 0.666667 345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF8 ENST00000320185.7 18 15 5 0 3 6 25 FGF8:single_exon:E4 0.388889 181 FGF8:exon_block:E2-E6 0.944444 923 FGF8:boundary_CDS_coverage:after_E1 1.000000 700 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGF9 ENST00000382353.6 5 5 0 0 0 3 8 FGF9:single_exon:E1 0.400000 1117 FGF9:exon_block:E1-E3 1.000000 4530 FGF9:boundary_CDS_coverage:after_E1 0.600000 347 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGFR1 ENST00000447712.7 222 191 63 0 31 18 97 FGFR1:single_exon:E14 0.121622 123 FGFR1:exon_block:E13-E17 0.396396 629 FGFR1:boundary_CDS_coverage:after_E1 1.000000 2466 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGFR2 ENST00000358487.10 128 116 29 0 12 18 97 FGFR2:single_exon:E8 0.421875 145 FGFR2:exon_block:E7-E11 0.773438 813 FGFR2:boundary_CDS_coverage:after_E2 1.000000 2354 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGFR3 ENST00000440486.8 58 50 11 8 0 18 97 FGFR3:single_exon:E18 0.189655 1752 FGFR3:exon_block:E6-E9 0.482759 651 FGFR3:boundary_CDS_coverage:after_E2 1.000000 2309 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FGG ENST00000336098.8 32 26 6 0 6 9 43 FGG:single_exon:E8 0.531250 278 FGG:exon_block:E6-E9 0.750000 1493 FGG:boundary_CDS_coverage:after_E1 1.000000 1281 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FH ENST00000366560.4 482 407 123 0 75 10 49 FH:single_exon:E5 0.180498 183 FH:exon_block:E4-E8 0.636929 858 FH:boundary_CDS_coverage:after_E1 0.970954 1398 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FHIP2A ENST00000369248.9 1 1 1 0 0 17 91 FHIP2A:single_exon:E2 1.000000 79 FHIP2A:exon_block:E2-E3 1.000000 249 FHIP2A:boundary_CDS_coverage:after_E1 1.000000 2250 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FHIT ENST00000492590.6 1 0 0 0 1 10 48 FHIT:single_exon:E7 0.000000 30 FHIT:exon_block:E7-E8 0.000000 99 FHIT:boundary_CDS_coverage:after_E7 1.000000 162 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FHL1 ENST00000370683.6 101 91 10 1 9 6 25 FHL1:single_exon:E4 0.316832 170 FHL1:exon_block:E2-E6 0.980198 2198 FHL1:boundary_CDS_coverage:after_E1 1.000000 866 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FHOD3 ENST00000590592.6 5 3 3 0 2 29 163 FHOD3:single_exon:E12 0.800000 360 FHOD3:exon_block:E12-E13 0.800000 435 FHOD3:boundary_CDS_coverage:after_E11 1.000000 3580 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FIBP ENST00000357519.9 5 4 3 0 1 10 49 FIBP:single_exon:E6 0.400000 109 FIBP:exon_block:E2-E6 1.000000 670 FIBP:boundary_CDS_coverage:after_E1 1.000000 986 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FIG4 ENST00000230124.8 123 91 51 1 31 23 127 FIG4:single_exon:E11 0.089431 134 FIG4:exon_block:E11-E15 0.292683 613 FIG4:boundary_CDS_coverage:after_E1 0.967480 2655 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FIGLA ENST00000332372.6 6 6 1 0 0 5 19 FIGLA:single_exon:E1 0.500000 236 FIGLA:exon_block:E1-E3 1.000000 614 FIGLA:boundary_CDS_coverage:after_E1 0.500000 426 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FILIP1 ENST00000237172.12 6 6 0 0 0 6 25 FILIP1:single_exon:E5 0.666667 2806 FILIP1:exon_block:E2-E5 1.000000 3441 FILIP1:boundary_CDS_coverage:after_E1 1.000000 3639 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FITM2 ENST00000396825.4 11 11 0 0 0 2 4 FITM2:single_exon:E2 0.545455 4401 FITM2:exon_block:E1-E2 1.000000 4628 FITM2:boundary_CDS_coverage:after_E1 0.545455 613 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FKBP10 ENST00000321562.9 76 59 21 1 16 10 49 FKBP10:single_exon:E1 0.197368 276 FKBP10:exon_block:E5-E9 0.552632 836 FKBP10:boundary_CDS_coverage:after_E1 0.802632 1501 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FKBP14 ENST00000222803.10 20 16 4 1 3 4 13 FKBP14:single_exon:E1 0.500000 391 FKBP14:exon_block:E1-E4 1.000000 4978 FKBP14:boundary_CDS_coverage:after_E1 0.600000 436 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FKBP6 ENST00000252037.5 5 3 2 0 2 9 42 FKBP6:single_exon:E5 0.400000 120 FKBP6:exon_block:E5-E7 1.000000 425 FKBP6:boundary_CDS_coverage:after_E4 1.000000 513 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FKRP ENST00000318584.10 224 222 0 1 1 4 13 FKRP:single_exon:E4 0.995536 3164 FKRP:exon_block:E3-E4 0.995536 3315 FKRP:boundary_CDS_coverage:after_E1 1.000000 1485 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FKTN ENST00000357998.10 169 137 58 1 31 11 55 FKTN:single_exon:E6 0.266272 278 FKTN:exon_block:E6-E10 0.680473 803 FKTN:boundary_CDS_coverage:after_E1 1.000000 1383 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLAD1 ENST00000292180.8 30 26 6 0 4 7 31 FLAD1:single_exon:E2 0.666667 745 FLAD1:exon_block:E2-E6 0.966667 1256 FLAD1:boundary_CDS_coverage:after_E1 0.966667 1389 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLCN ENST00000285071.9 425 360 116 0 65 14 73 FLCN:single_exon:E4 0.141176 273 FLCN:exon_block:E9-E13 0.480000 667 FLCN:boundary_CDS_coverage:after_E1 1.000000 1737 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLG ENST00000368799.2 246 244 2 0 2 3 8 FLG:single_exon:E3 0.979675 12583 FLG:exon_block:E2-E3 1.000000 12742 FLG:boundary_CDS_coverage:after_E1 1.000000 12183 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLG2 ENST00000388718.5 4 4 0 0 0 3 8 FLG2:single_exon:E3 1.000000 8913 FLG2:exon_block:E2-E3 1.000000 9073 FLG2:boundary_CDS_coverage:after_E2 1.000000 7035 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLI1 ENST00000527786.7 9 9 0 0 0 9 43 FLI1:single_exon:E9 0.888889 2809 FLI1:exon_block:E8-E9 0.888889 2857 FLI1:boundary_CDS_coverage:after_E2 1.000000 1126 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLII ENST00000327031.9 3 3 1 0 0 30 169 FLII:single_exon:E27 0.333333 107 FLII:exon_block:E27-E30 0.666667 737 FLII:boundary_CDS_coverage:after_E11 1.000000 2561 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLNA ENST00000369850.10 333 270 100 1 62 48 277 FLNA:single_exon:E2 0.084084 489 FLNA:exon_block:E2-E6 0.195195 1103 FLNA:boundary_CDS_coverage:after_E1 1.000000 7941 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLNB ENST00000295956.9 153 126 38 0 27 46 265 FLNB:single_exon:E2 0.084967 249 FLNB:exon_block:E1-E4 0.215686 930 FLNB:boundary_CDS_coverage:after_E1 0.973856 7514 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLNC ENST00000325888.13 606 504 161 0 102 48 277 FLNC:single_exon:E41 0.046205 270 FLNC:exon_block:E19-E23 0.156766 1316 FLNC:boundary_CDS_coverage:after_E1 0.965347 7823 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLRT3 ENST00000341420.5 1 1 0 0 0 3 8 FLRT3:single_exon:E3 1.000000 4574 FLRT3:exon_block:E2-E3 1.000000 4768 FLRT3:boundary_CDS_coverage:after_E1 1.000000 1947 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLT3 ENST00000241453.12 12 12 3 0 0 24 133 FLT3:single_exon:E20 0.666667 123 FLT3:exon_block:E20-E21 0.666667 235 FLT3:boundary_CDS_coverage:after_E13 1.000000 1275 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLT3LG ENST00000597551.6 1 0 1 0 1 9 42 FLT3LG:single_exon:E6 1.000000 139 FLT3LG:exon_block:E5-E6 1.000000 283 FLT3LG:boundary_CDS_coverage:after_E5 1.000000 363 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLT4 ENST00000261937.11 65 59 14 0 6 30 169 FLT4:single_exon:E23 0.153846 123 FLT4:exon_block:E22-E26 0.400000 536 FLT4:boundary_CDS_coverage:after_E1 1.000000 4031 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLVCR1 ENST00000366971.9 59 55 9 1 3 10 49 FLVCR1:single_exon:E1 0.474576 916 FLVCR1:exon_block:E1-E5 0.728814 1374 FLVCR1:boundary_CDS_coverage:after_E1 0.525424 927 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FLVCR2 ENST00000238667.9 21 16 5 0 5 10 49 FLVCR2:single_exon:E1 0.285714 1022 FLVCR2:exon_block:E1-E5 0.761905 1477 FLVCR2:boundary_CDS_coverage:after_E1 0.714286 909 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FMC1 ENST00000297534.7 1 1 0 0 0 2 4 FMC1:single_exon:E1 1.000000 186 FMC1:exon_block:E1-E2 1.000000 1014 FMC1:boundary_CDS_coverage:after_E1 0.000000 201 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FMN1 ENST00000616417.5 2 0 0 0 2 21 115 FMN1:single_exon:E18 0.000000 52 FMN1:exon_block:E17-E18 0.000000 145 FMN1:boundary_CDS_coverage:after_E4 1.000000 2390 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FMN2 ENST00000319653.14 17 17 1 0 0 18 97 FMN2:single_exon:E1 0.294118 1842 FMN2:exon_block:E1-E5 0.764706 4147 FMN2:boundary_CDS_coverage:after_E1 0.705882 3551 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FMNL2 ENST00000288670.14 1 1 0 0 0 26 145 FMNL2:single_exon:E5 1.000000 84 FMNL2:exon_block:E4-E5 1.000000 161 FMNL2:boundary_CDS_coverage:after_E4 1.000000 2917 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FMO3 ENST00000367755.9 97 86 23 0 11 9 43 FMO3:single_exon:E7 0.206186 356 FMO3:exon_block:E3-E7 0.752577 1051 FMO3:boundary_CDS_coverage:after_E1 1.000000 1596 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FMR1 ENST00000370475.9 25 16 11 1 8 17 91 FMR1:single_exon:E2 0.120000 53 FMR1:exon_block:E2-E6 0.360000 462 FMR1:boundary_CDS_coverage:after_E1 0.960000 1845 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FN1 ENST00000354785.11 29 25 6 0 4 46 265 FN1:single_exon:E5 0.241379 138 FN1:exon_block:E2-E6 0.517241 696 FN1:boundary_CDS_coverage:after_E1 1.000000 7283 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FNIP1 ENST00000510461.6 23 20 5 0 3 18 97 FNIP1:single_exon:E14 0.391304 1420 FNIP1:exon_block:E12-E16 0.608696 2104 FNIP1:boundary_CDS_coverage:after_E1 1.000000 3406 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FNTA ENST00000302279.8 1 1 0 0 0 9 43 FNTA:single_exon:E8 1.000000 172 FNTA:exon_block:E7-E8 1.000000 235 FNTA:boundary_CDS_coverage:after_E7 1.000000 292 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOCAD ENST00000338382.11 13 7 7 0 6 44 253 FOCAD:single_exon:E37 0.153846 116 FOCAD:exon_block:E20-E22 0.230769 401 FOCAD:boundary_CDS_coverage:after_E5 1.000000 5011 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOLR1 ENST00000393676.5 31 27 7 0 4 4 13 FOLR1:single_exon:E2 0.387097 189 FOLR1:exon_block:E1-E4 1.000000 930 FOLR1:boundary_CDS_coverage:after_E1 0.870968 603 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOS ENST00000303562.9 1 1 0 0 0 4 13 FOS:single_exon:E3 1.000000 108 FOS:exon_block:E2-E3 1.000000 360 FOS:boundary_CDS_coverage:after_E2 1.000000 747 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOSL2 ENST00000264716.9 6 6 0 0 0 4 13 FOSL2:single_exon:E4 1.000000 5388 FOSL2:exon_block:E3-E4 1.000000 5496 FOSL2:boundary_CDS_coverage:after_E3 1.000000 516 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXA2 ENST00000419308.7 2 2 0 0 0 2 4 FOXA2:single_exon:E2 1.000000 2157 FOXA2:exon_block:E1-E2 1.000000 2538 FOXA2:boundary_CDS_coverage:after_E1 1.000000 1302 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXC1 ENST00000645831.2 150 148 0 2 0 1 1 FOXC1:single_exon:E1 1.000000 3983 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXC2 ENST00000649859.1 57 57 0 0 0 1 1 FOXC2:single_exon:E1 1.000000 2900 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXD2 ENST00000334793.6 2 2 0 0 0 1 1 FOXD2:single_exon:E1 1.000000 2648 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXE1 ENST00000375123.5 6 6 0 0 0 1 1 FOXE1:single_exon:E1 1.000000 3492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXE3 ENST00000335071.4 33 30 0 3 0 1 1 FOXE3:single_exon:E1 1.000000 1768 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXF1 ENST00000262426.6 66 62 0 4 0 2 4 FOXF1:single_exon:E1 0.893939 1022 FOXF1:exon_block:E1-E2 1.000000 3520 FOXF1:boundary_CDS_coverage:after_E1 0.106061 158 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXG1 ENST00000313071.7 278 278 0 0 0 1 1 FOXG1:single_exon:E1 1.000000 3491 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXH1 ENST00000377317.5 6 6 1 0 0 3 8 FOXH1:single_exon:E2 0.666667 105 FOXH1:exon_block:E1-E3 1.000000 2017 FOXH1:boundary_CDS_coverage:after_E1 0.833333 921 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXI1 ENST00000306268.8 5 5 0 0 0 2 4 FOXI1:single_exon:E2 0.600000 1686 FOXI1:exon_block:E1-E2 1.000000 2321 FOXI1:boundary_CDS_coverage:after_E1 0.600000 560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXI3 ENST00000428390.3 8 8 0 0 0 2 4 FOXI3:single_exon:E2 0.625000 2043 FOXI3:exon_block:E1-E2 1.000000 2841 FOXI3:boundary_CDS_coverage:after_E1 0.625000 620 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXJ1 ENST00000322957.7 8 8 0 0 0 3 8 FOXJ1:single_exon:E3 0.875000 1788 FOXJ1:exon_block:E2-E3 1.000000 2455 FOXJ1:boundary_CDS_coverage:after_E1 1.000000 1263 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXL2 ENST00000648323.1 174 173 0 1 0 1 1 FOXL2:single_exon:E1 1.000000 2914 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXN1 ENST00000579795.6 79 75 7 0 4 9 43 FOXN1:single_exon:E8 0.493671 492 FOXN1:exon_block:E4-E8 0.822785 1039 FOXN1:boundary_CDS_coverage:after_E1 1.000000 1944 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXO1 ENST00000379561.6 1 1 0 0 0 3 7 FOXO1:single_exon:E1 1.000000 1059 FOXO1:exon_block:E1-E2 1.000000 2411 FOXO1:boundary_CDS_coverage:after_E1 0.000000 1335 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXP1 ENST00000649528.3 192 149 69 0 43 21 115 FOXP1:single_exon:E15 0.177083 202 FOXP1:exon_block:E15-E19 0.609375 576 FOXP1:boundary_CDS_coverage:after_E6 1.000000 1851 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXP2 ENST00000350908.9 58 54 11 0 4 17 91 FOXP2:single_exon:E5 0.155172 201 FOXP2:exon_block:E5-E9 0.448276 786 FOXP2:boundary_CDS_coverage:after_E1 1.000000 2145 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXP3 ENST00000376207.10 55 38 21 2 15 12 61 FOXP3:single_exon:E12 0.200000 1046 FOXP3:exon_block:E8-E12 0.545455 1457 FOXP3:boundary_CDS_coverage:after_E1 1.000000 1293 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXP4 ENST00000307972.10 3 3 1 0 0 17 91 FOXP4:single_exon:E14 0.666667 122 FOXP4:exon_block:E14-E15 0.666667 189 FOXP4:boundary_CDS_coverage:after_E1 1.000000 2040 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FOXRED1 ENST00000263578.10 63 45 24 0 18 11 55 FOXRED1:single_exon:E8 0.158730 161 FOXRED1:exon_block:E2-E6 0.507937 648 FOXRED1:boundary_CDS_coverage:after_E1 0.984127 1373 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRA10AC1 ENST00000359204.5 11 8 3 0 3 14 73 FRA10AC1:single_exon:E8 0.181818 46 FRA10AC1:exon_block:E6-E10 0.636364 372 FRA10AC1:boundary_CDS_coverage:after_E1 1.000000 945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRAS1 ENST00000512123.4 315 239 112 0 76 74 433 FRAS1:single_exon:E5 0.038095 160 FRAS1:exon_block:E41-E45 0.104762 934 FRAS1:boundary_CDS_coverage:after_E1 0.996825 11960 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FREM1 ENST00000380880.4 71 52 27 0 19 37 211 FREM1:single_exon:E16 0.098592 253 FREM1:exon_block:E20-E24 0.211268 971 FREM1:boundary_CDS_coverage:after_E1 1.000000 6537 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FREM2 ENST00000280481.9 129 119 14 0 10 24 133 FREM2:single_exon:E1 0.534884 5441 FREM2:exon_block:E1-E5 0.596899 6035 FREM2:boundary_CDS_coverage:after_E2 0.465116 4244 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRG1 ENST00000226798.9 1 1 1 0 0 9 43 FRG1:single_exon:E5 1.000000 115 FRG1:exon_block:E4-E5 1.000000 173 FRG1:boundary_CDS_coverage:after_E4 1.000000 457 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRMD4A ENST00000357447.7 3 3 1 0 0 25 138 FRMD4A:single_exon:E3 0.333333 66 FRMD4A:exon_block:E22-E24 0.666667 1056 FRMD4A:boundary_CDS_coverage:after_E2 1.000000 3072 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRMD5 ENST00000417257.6 6 5 1 0 1 14 73 FRMD5:single_exon:E13 0.833333 107 FRMD5:exon_block:E11-E13 1.000000 251 FRMD5:boundary_CDS_coverage:after_E10 1.000000 826 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRMD7 ENST00000298542.9 59 45 18 0 14 12 61 FRMD7:single_exon:E9 0.169492 164 FRMD7:exon_block:E8-E12 0.508475 2382 FRMD7:boundary_CDS_coverage:after_E1 0.915254 2085 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRMPD4 ENST00000675598.1 20 18 3 0 2 17 91 FRMPD4:single_exon:E16 0.400000 1290 FRMPD4:exon_block:E13-E16 0.700000 2677 FRMPD4:boundary_CDS_coverage:after_E5 1.000000 4818 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRRS1L ENST00000561981.5 39 29 6 4 3 5 19 FRRS1L:single_exon:E4 0.384615 247 FRRS1L:exon_block:E1-E5 0.923077 8155 FRRS1L:boundary_CDS_coverage:after_E1 0.641026 641 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FRYL ENST00000358350.9 23 20 7 0 3 64 373 FRYL:single_exon:E38 0.086957 113 FRYL:exon_block:E16-E20 0.217391 738 FRYL:boundary_CDS_coverage:after_E1 1.000000 9039 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FSCN2 ENST00000417245.7 3 2 1 0 1 5 19 FSCN2:single_exon:E2 0.333333 157 FSCN2:exon_block:E1-E5 1.000000 1684 FSCN2:boundary_CDS_coverage:after_E1 0.666667 650 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FSD1L ENST00000481272.6 1 1 0 0 0 14 73 FSD1L:single_exon:E13 1.000000 89 FSD1L:exon_block:E12-E13 1.000000 341 FSD1L:boundary_CDS_coverage:after_E12 1.000000 212 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FSHB ENST00000533718.2 5 5 0 0 0 3 8 FSHB:single_exon:E3 1.000000 1625 FSHB:exon_block:E2-E3 1.000000 1821 FSHB:boundary_CDS_coverage:after_E2 1.000000 228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FSHR ENST00000406846.7 34 34 5 0 0 10 49 FSHR:single_exon:E10 0.647059 1810 FSHR:exon_block:E6-E10 0.823529 2218 FSHR:boundary_CDS_coverage:after_E3 0.970588 1786 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FSIP2 ENST00000424728.6 21 21 0 0 0 23 127 FSIP2:single_exon:E16 0.476190 8884 FSIP2:exon_block:E16-E18 0.904762 18819 FSIP2:boundary_CDS_coverage:after_E7 1.000000 19851 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FTCD ENST00000397746.8 39 32 12 0 7 14 73 FTCD:single_exon:E9 0.307692 130 FTCD:exon_block:E9-E13 0.512821 571 FTCD:boundary_CDS_coverage:after_E1 1.000000 1569 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FTH1 ENST00000273550.12 11 3 0 1 0 4 13 FTH1:single_exon:E4 0.272727 607 FTH1:exon_block:E1-E4 0.363636 1203 FTH1:boundary_CDS_coverage:after_E3 0.909091 162 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FTL ENST00000331825.11 31 13 2 18 0 4 13 FTL:single_exon:E1 0.612903 301 FTL:exon_block:E1-E4 1.000000 871 FTL:boundary_CDS_coverage:after_E1 0.387097 423 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FTO ENST00000471389.6 3 2 1 0 1 9 43 FTO:single_exon:E5 0.666667 80 FTO:exon_block:E3-E5 1.000000 852 FTO:boundary_CDS_coverage:after_E2 1.000000 1392 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FTSJ1 ENST00000348411.3 15 11 7 0 4 13 66 FTSJ1:single_exon:E4 0.200000 91 FTSJ1:exon_block:E2-E6 0.666667 501 FTSJ1:boundary_CDS_coverage:after_E1 1.000000 987 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FUCA1 ENST00000374479.4 87 72 20 0 15 8 37 FUCA1:single_exon:E1 0.241379 393 FUCA1:exon_block:E1-E5 0.735632 973 FUCA1:boundary_CDS_coverage:after_E1 0.770115 1009 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FUNDC2 ENST00000369498.8 1 0 0 1 0 5 19 FUNDC2:single_exon:E1 1.000000 228 FUNDC2:exon_block:E1-E2 1.000000 379 FUNDC2:boundary_CDS_coverage:after_E4 0.000000 75 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FUS ENST00000254108.12 50 46 12 0 4 15 79 FUS:single_exon:E14 0.480000 148 FUS:exon_block:E13-E15 0.880000 456 FUS:boundary_CDS_coverage:after_E3 1.000000 1388 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FUT1 ENST00000645652.2 6 6 0 0 0 2 4 FUT1:single_exon:E2 1.000000 3273 FUT1:exon_block:E1-E2 1.000000 3425 FUT1:boundary_CDS_coverage:after_E1 1.000000 1095 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FUT8 ENST00000673929.1 7 6 1 0 1 11 55 FUT8:single_exon:E8 0.428571 247 FUT8:exon_block:E7-E9 0.857143 662 FUT8:boundary_CDS_coverage:after_E1 1.000000 1725 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FUZ ENST00000313777.9 1 0 1 0 1 11 55 FUZ:single_exon:E1 1.000000 297 FUZ:exon_block:E1-E2 1.000000 419 FUZ:boundary_CDS_coverage:after_E1 1.000000 1143 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FXN ENST00000484259.3 24 15 8 0 9 5 19 FXN:single_exon:E4 0.250000 98 FXN:exon_block:E1-E5 0.916667 6978 FXN:boundary_CDS_coverage:after_E1 0.833333 465 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FXR1 ENST00000357559.9 4 1 0 0 3 17 91 FXR1:single_exon:E17 0.250000 6632 FXR1:exon_block:E16-E17 0.250000 6724 FXR1:boundary_CDS_coverage:after_E15 1.000000 260 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FXYD2 ENST00000292079.7 1 1 0 0 0 6 24 FXYD2:single_exon:E3 1.000000 75 FXYD2:exon_block:E3-E4 1.000000 112 FXYD2:boundary_CDS_coverage:after_E2 1.000000 134 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FYB1 ENST00000512982.4 2 2 1 0 0 19 103 FYB1:single_exon:E6 0.500000 35 FYB1:exon_block:E2-E6 1.000000 1421 FYB1:boundary_CDS_coverage:after_E1 1.000000 2487 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FYCO1 ENST00000296137.7 39 36 5 0 3 18 97 FYCO1:single_exon:E8 0.461538 2427 FYCO1:exon_block:E8-E12 0.743590 2957 FYCO1:boundary_CDS_coverage:after_E3 1.000000 4272 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FYN ENST00000354650.7 3 3 0 0 0 14 73 FYN:single_exon:E5 1.000000 97 FYN:exon_block:E5-E6 1.000000 196 FYN:boundary_CDS_coverage:after_E4 1.000000 1364 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FZD2 ENST00000315323.5 9 9 0 0 0 1 1 FZD2:single_exon:E1 1.000000 3779 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FZD3 ENST00000240093.8 2 2 0 0 0 8 37 FZD3:single_exon:E7 0.500000 234 FZD3:exon_block:E5-E7 1.000000 1401 FZD3:boundary_CDS_coverage:after_E4 1.000000 1612 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FZD4 ENST00000531380.2 81 80 1 0 1 2 4 FZD4:single_exon:E2 0.802469 6792 FZD4:exon_block:E1-E2 0.987654 7387 FZD4:boundary_CDS_coverage:after_E1 0.814815 1326 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FZD5 ENST00000295417.4 9 9 0 0 0 2 4 FZD5:single_exon:E2 1.000000 6397 FZD5:exon_block:E1-E2 1.000000 7039 FZD5:boundary_CDS_coverage:after_E1 1.000000 1755 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FZD6 ENST00000358755.5 7 6 2 0 1 7 31 FZD6:single_exon:E5 0.428571 149 FZD6:exon_block:E3-E6 1.000000 1775 FZD6:boundary_CDS_coverage:after_E2 1.000000 1941 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true FZR1 ENST00000441788.7 5 5 2 0 0 14 73 FZR1:single_exon:E10 0.600000 185 FZR1:exon_block:E7-E10 1.000000 538 FZR1:boundary_CDS_coverage:after_E6 1.000000 1009 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true G3BP1 ENST00000356245.8 1 0 1 0 1 12 61 G3BP1:single_exon:E2 1.000000 144 G3BP1:exon_block:E2-E3 1.000000 226 G3BP1:boundary_CDS_coverage:after_E2 1.000000 1303 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true G6PC1 ENST00000253801.7 171 158 23 0 13 5 19 G6PC1:single_exon:E5 0.345029 3524 G6PC1:exon_block:E1-E5 0.994152 4164 G6PC1:boundary_CDS_coverage:after_E1 0.812865 841 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true G6PC3 ENST00000269097.9 52 42 17 0 10 6 25 G6PC3:single_exon:E1 0.326923 449 G6PC3:exon_block:E1-E5 0.769231 908 G6PC3:boundary_CDS_coverage:after_E1 0.711538 820 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true G6PD ENST00000393562.10 231 222 38 0 7 13 67 G6PD:single_exon:E10 0.220779 236 G6PD:exon_block:E6-E10 0.571429 802 G6PD:boundary_CDS_coverage:after_E1 0.991342 1545 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAA ENST00000302262.8 739 639 175 0 100 20 109 GAA:single_exon:E2 0.121786 578 GAA:exon_block:E11-E15 0.331529 638 GAA:boundary_CDS_coverage:after_E1 1.000000 2856 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAB1 ENST00000262994.9 1 1 0 0 0 10 49 GAB1:single_exon:E2 1.000000 295 GAB1:exon_block:E2-E3 1.000000 521 GAB1:boundary_CDS_coverage:after_E1 1.000000 2010 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABBR1 ENST00000377034.9 7 7 0 0 0 23 127 GABBR1:single_exon:E13 0.285714 64 GABBR1:exon_block:E9-E13 0.714286 667 GABBR1:boundary_CDS_coverage:after_E8 1.000000 1920 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABBR2 ENST00000259455.4 15 14 3 0 1 19 103 GABBR2:single_exon:E15 0.533333 225 GABBR2:exon_block:E12-E15 0.666667 567 GABBR2:boundary_CDS_coverage:after_E2 0.933333 2364 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRA1 ENST00000393943.10 74 69 14 0 5 10 49 GABRA1:single_exon:E9 0.378378 203 GABRA1:exon_block:E5-E9 0.837838 804 GABRA1:boundary_CDS_coverage:after_E1 1.000000 1368 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRA2 ENST00000381620.9 20 20 5 0 0 10 49 GABRA2:single_exon:E9 0.450000 203 GABRA2:exon_block:E5-E9 0.900000 804 GABRA2:boundary_CDS_coverage:after_E2 1.000000 1282 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRA3 ENST00000370314.9 4 4 0 0 0 10 49 GABRA3:single_exon:E7 0.250000 144 GABRA3:exon_block:E5-E8 0.750000 601 GABRA3:boundary_CDS_coverage:after_E4 1.000000 1146 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRA5 ENST00000335625.10 6 6 3 0 0 11 55 GABRA5:single_exon:E10 0.666667 212 GABRA5:exon_block:E9-E11 1.000000 1640 GABRA5:boundary_CDS_coverage:after_E8 1.000000 662 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRB1 ENST00000295454.8 5 5 0 0 0 9 43 GABRB1:single_exon:E7 0.400000 153 GABRB1:exon_block:E7-E8 0.800000 398 GABRB1:boundary_CDS_coverage:after_E1 1.000000 1342 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRB2 ENST00000393959.6 57 57 10 0 0 10 49 GABRB2:single_exon:E8 0.543860 245 GABRB2:exon_block:E4-E8 0.912281 840 GABRB2:boundary_CDS_coverage:after_E1 1.000000 1459 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRB3 ENST00000311550.10 97 88 26 0 8 9 43 GABRB3:single_exon:E8 0.278351 245 GABRB3:exon_block:E4-E8 0.835052 840 GABRB3:boundary_CDS_coverage:after_E1 0.958763 1339 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRD ENST00000378585.7 4 4 0 0 0 9 43 GABRD:single_exon:E7 0.500000 156 GABRD:exon_block:E6-E8 1.000000 506 GABRD:boundary_CDS_coverage:after_E5 1.000000 803 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRE ENST00000370328.4 1 1 0 0 0 9 43 GABRE:single_exon:E4 1.000000 221 GABRE:exon_block:E3-E4 1.000000 289 GABRE:boundary_CDS_coverage:after_E3 1.000000 1176 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRG2 ENST00000639213.2 126 105 32 0 21 10 49 GABRG2:single_exon:E8 0.190476 206 GABRG2:exon_block:E4-E8 0.674603 801 GABRG2:boundary_CDS_coverage:after_E1 0.992063 1318 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GABRG3 ENST00000615808.5 1 1 1 0 0 10 49 GABRG3:single_exon:E10 1.000000 9385 GABRG3:exon_block:E9-E10 1.000000 9445 GABRG3:boundary_CDS_coverage:after_E9 1.000000 279 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAD1 ENST00000358196.8 18 13 6 0 5 17 91 GAD1:single_exon:E7 0.166667 113 GAD1:exon_block:E6-E8 0.388889 320 GAD1:boundary_CDS_coverage:after_E2 1.000000 1700 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAL ENST00000265643.4 1 1 0 0 0 6 25 GAL:single_exon:E3 1.000000 55 GAL:exon_block:E2-E3 1.000000 136 GAL:boundary_CDS_coverage:after_E2 1.000000 288 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAL3ST2 ENST00000192314.7 1 1 0 0 0 4 13 GAL3ST2:single_exon:E3 1.000000 256 GAL3ST2:exon_block:E2-E3 1.000000 346 GAL3ST2:boundary_CDS_coverage:after_E2 1.000000 1075 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALC ENST00000261304.7 365 302 105 1 61 17 91 GALC:single_exon:E1 0.131507 213 GALC:exon_block:E1-E5 0.345205 600 GALC:boundary_CDS_coverage:after_E1 0.879452 1860 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALE ENST00000617979.5 58 45 25 0 13 12 61 GALE:single_exon:E4 0.155172 116 GALE:exon_block:E4-E8 0.586207 588 GALE:boundary_CDS_coverage:after_E1 1.000000 1044 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALK1 ENST00000588479.6 160 98 27 0 14 8 37 GALK1:single_exon:E5 0.118750 182 GALK1:exon_block:E3-E7 0.493750 752 GALK1:boundary_CDS_coverage:after_E1 0.906250 1011 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALM ENST00000272252.10 5 5 1 0 0 7 31 GALM:single_exon:E2 0.600000 155 GALM:exon_block:E2-E6 1.000000 761 GALM:boundary_CDS_coverage:after_E1 1.000000 836 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALNS ENST00000268695.10 299 232 112 1 66 14 73 GALNS:single_exon:E5 0.120401 144 GALNS:exon_block:E4-E8 0.421405 579 GALNS:boundary_CDS_coverage:after_E1 0.953177 1446 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALNT14 ENST00000349752.10 1 1 0 0 0 15 79 GALNT14:single_exon:E13 1.000000 145 GALNT14:exon_block:E12-E13 1.000000 229 GALNT14:boundary_CDS_coverage:after_E12 1.000000 421 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALNT2 ENST00000366672.5 8 8 1 0 0 16 85 GALNT2:single_exon:E7 0.375000 122 GALNT2:exon_block:E3-E7 0.750000 509 GALNT2:boundary_CDS_coverage:after_E2 1.000000 1493 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALNT3 ENST00000392701.8 67 50 26 0 17 11 55 GALNT3:single_exon:E10 0.164179 153 GALNT3:exon_block:E4-E8 0.567164 836 GALNT3:boundary_CDS_coverage:after_E1 1.000000 1899 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALNT4 ENST00000529983.3 1 1 0 0 0 1 1 GALNT4:single_exon:E1 1.000000 5385 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALNTL5 ENST00000392800.7 1 1 0 0 0 9 43 GALNTL5:single_exon:E2 1.000000 286 GALNTL5:exon_block:E2-E3 1.000000 407 GALNTL5:boundary_CDS_coverage:after_E1 1.000000 1329 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALR2 ENST00000329003.4 1 0 0 0 0 2 4 GALR2:single_exon:E1 0.000000 471 GALR2:exon_block:E1-E2 0.000000 1373 GALR2:boundary_CDS_coverage:after_E1 0.000000 793 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GALT ENST00000378842.8 333 278 110 3 52 11 55 GALT:single_exon:E10 0.141141 155 GALT:exon_block:E6-E10 0.543544 552 GALT:boundary_CDS_coverage:after_E1 0.948949 1055 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAMT ENST00000252288.8 145 128 32 0 17 6 25 GAMT:single_exon:E1 0.282759 247 GAMT:exon_block:E1-E5 0.917241 636 GAMT:boundary_CDS_coverage:after_E1 0.744828 527 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAN ENST00000648994.2 58 49 15 0 9 11 55 GAN:single_exon:E3 0.310345 351 GAN:exon_block:E3-E7 0.706897 954 GAN:boundary_CDS_coverage:after_E1 0.965517 1624 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GANAB ENST00000356638.8 57 46 21 0 11 24 133 GANAB:single_exon:E3 0.087719 109 GANAB:exon_block:E3-E7 0.315789 575 GANAB:boundary_CDS_coverage:after_E1 0.982456 2794 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAPDH ENST00000229239.10 1 0 0 0 0 9 43 GAPDH:single_exon:E2 0.000000 52 GAPDH:exon_block:E1-E2 0.000000 105 GAPDH:boundary_CDS_coverage:after_E8 0.000000 67 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAREM2 ENST00000401533.7 129 0 0 0 0 6 25 GAREM2:single_exon:E3 0.000000 131 GAREM2:exon_block:E2-E3 0.000000 272 GAREM2:boundary_CDS_coverage:after_E5 1.000000 1024 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GARIN5A ENST00000600100.6 2 0 0 2 0 5 18 GARIN5A:single_exon:E1 1.000000 719 GARIN5A:exon_block:E1-E2 1.000000 820 GARIN5A:boundary_CDS_coverage:after_E3 0.000000 202 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GARNL3 ENST00000373387.9 1 1 1 0 0 28 157 GARNL3:single_exon:E10 1.000000 104 GARNL3:exon_block:E9-E10 1.000000 203 GARNL3:boundary_CDS_coverage:after_E9 1.000000 2270 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GARS1 ENST00000389266.8 30 30 6 0 0 17 91 GARS1:single_exon:E8 0.400000 150 GARS1:exon_block:E7-E11 0.733333 732 GARS1:boundary_CDS_coverage:after_E1 1.000000 1995 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GART ENST00000381815.9 2 1 1 1 0 22 121 GART:single_exon:E1 0.500000 53 GART:exon_block:E1-E2 0.500000 239 GART:boundary_CDS_coverage:after_E14 0.500000 1328 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAS2 ENST00000454584.7 2 1 1 0 1 8 37 GAS2:single_exon:E7 0.500000 108 GAS2:exon_block:E6-E7 1.000000 250 GAS2:boundary_CDS_coverage:after_E5 1.000000 466 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GAS2L2 ENST00000604641.6 1 1 0 0 0 6 25 GAS2L2:single_exon:E1 1.000000 774 GAS2L2:exon_block:E1-E2 1.000000 1016 GAS2L2:boundary_CDS_coverage:after_E5 0.000000 1555 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATA1 ENST00000376670.9 78 69 15 3 6 6 25 GATA1:single_exon:E2 0.769231 239 GATA1:exon_block:E2-E6 1.000000 1408 GATA1:boundary_CDS_coverage:after_E1 1.000000 1239 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATA2 ENST00000341105.7 225 207 38 0 18 6 25 GATA2:single_exon:E5 0.373333 126 GATA2:exon_block:E2-E6 0.982222 3080 GATA2:boundary_CDS_coverage:after_E1 1.000000 1440 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATA3 ENST00000379328.9 109 99 19 0 10 6 25 GATA3:single_exon:E3 0.513761 537 GATA3:exon_block:E2-E6 1.000000 2879 GATA3:boundary_CDS_coverage:after_E1 1.000000 1332 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATA4 ENST00000532059.6 39 36 4 0 3 7 31 GATA4:single_exon:E4 0.282051 126 GATA4:exon_block:E2-E6 0.923077 1606 GATA4:boundary_CDS_coverage:after_E1 1.000000 1329 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATA5 ENST00000252997.3 5 4 1 0 1 7 31 GATA5:single_exon:E3 0.800000 176 GATA5:exon_block:E2-E3 1.000000 720 GATA5:boundary_CDS_coverage:after_E1 1.000000 1191 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATA6 ENST00000269216.10 48 45 4 0 3 7 31 GATA6:single_exon:E2 0.479167 1172 GATA6:exon_block:E2-E6 1.000000 1657 GATA6:boundary_CDS_coverage:after_E1 1.000000 1785 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATAD1 ENST00000287957.5 122 1 0 0 0 5 19 GATAD1:single_exon:E2 0.008197 126 GATAD1:exon_block:E2-E3 0.008197 186 GATAD1:boundary_CDS_coverage:after_E1 1.000000 558 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATAD2A ENST00000683918.1 1 1 0 0 0 12 61 GATAD2A:single_exon:E12 1.000000 3589 GATAD2A:exon_block:E11-E12 1.000000 3785 GATAD2A:boundary_CDS_coverage:after_E11 1.000000 128 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATAD2B ENST00000368655.5 110 95 29 1 14 11 55 GATAD2B:single_exon:E2 0.190909 336 GATAD2B:exon_block:E2-E6 0.609091 901 GATAD2B:boundary_CDS_coverage:after_E1 1.000000 1779 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATB ENST00000263985.11 4 4 1 0 0 13 67 GATB:single_exon:E3 0.250000 114 GATB:exon_block:E3-E5 0.750000 436 GATB:boundary_CDS_coverage:after_E2 1.000000 1344 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATC ENST00000551765.6 1 1 0 0 0 4 13 GATC:single_exon:E2 1.000000 173 GATC:exon_block:E2-E3 1.000000 277 GATC:boundary_CDS_coverage:after_E1 1.000000 327 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GATM ENST00000396659.8 38 32 8 0 6 9 43 GATM:single_exon:E4 0.236842 191 GATM:exon_block:E2-E6 0.736842 909 GATM:boundary_CDS_coverage:after_E1 0.947368 1200 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GBA1 ENST00000368373.8 360 311 83 2 47 11 55 GBA1:single_exon:E8 0.177778 225 GBA1:exon_block:E5-E9 0.700000 934 GBA1:boundary_CDS_coverage:after_E1 0.991667 1581 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GBA2 ENST00000378103.7 46 41 10 0 5 17 91 GBA2:single_exon:E17 0.108696 582 GBA2:exon_block:E6-E10 0.369565 661 GBA2:boundary_CDS_coverage:after_E1 0.956522 2422 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GBE1 ENST00000429644.7 198 152 79 0 46 16 85 GBE1:single_exon:E7 0.131313 210 GBE1:exon_block:E7-E11 0.373737 664 GBE1:boundary_CDS_coverage:after_E1 0.949495 1963 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GBF1 ENST00000369983.5 13 5 1 0 0 40 229 GBF1:single_exon:E33 0.153846 206 GBF1:exon_block:E29-E33 0.230769 988 GBF1:boundary_CDS_coverage:after_E22 0.384615 2701 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GBP1 ENST00000370473.5 1 0 0 0 1 11 55 GBP1:single_exon:E1 0.000000 49 GBP1:exon_block:E3-E4 0.000000 238 GBP1:boundary_CDS_coverage:after_E10 1.000000 111 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GC ENST00000273951.13 9 9 0 0 0 13 66 GC:single_exon:E11 1.000000 133 GC:exon_block:E11-E12 1.000000 188 GC:boundary_CDS_coverage:after_E10 1.000000 160 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCDH ENST00000222214.10 324 290 84 1 33 12 61 GCDH:single_exon:E11 0.200617 161 GCDH:exon_block:E7-E11 0.608025 738 GCDH:boundary_CDS_coverage:after_E1 1.000000 1314 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCGR ENST00000400723.8 5 4 2 0 1 14 73 GCGR:single_exon:E4 0.400000 108 GCGR:exon_block:E4-E6 0.600000 337 GCGR:boundary_CDS_coverage:after_E3 1.000000 1268 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCH1 ENST00000491895.7 113 86 38 3 24 6 25 GCH1:single_exon:E1 0.389381 506 GCH1:exon_block:E1-E5 0.876106 789 GCH1:boundary_CDS_coverage:after_E1 0.610619 407 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCK ENST00000403799.8 655 576 146 5 73 10 49 GCK:single_exon:E9 0.213740 234 GCK:exon_block:E6-E10 0.661069 1680 GCK:boundary_CDS_coverage:after_E1 0.995420 1350 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCLC ENST00000650454.1 2 2 0 0 0 16 85 GCLC:single_exon:E10 0.500000 113 GCLC:exon_block:E4-E5 0.500000 173 GCLC:boundary_CDS_coverage:after_E3 1.000000 1465 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCM2 ENST00000379491.5 21 19 2 0 2 5 19 GCM2:single_exon:E5 0.523810 1711 GCM2:exon_block:E1-E5 1.000000 2541 GCM2:boundary_CDS_coverage:after_E1 0.904762 1428 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCNA ENST00000373696.8 4 4 0 0 0 13 67 GCNA:single_exon:E8 0.750000 1089 GCNA:exon_block:E8-E10 1.000000 1301 GCNA:boundary_CDS_coverage:after_E7 1.000000 1763 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCNT2 ENST00000495262.7 12 8 0 0 4 5 19 GCNT2:single_exon:E5 0.333333 2952 GCNT2:exon_block:E3-E5 0.666667 4251 GCNT2:boundary_CDS_coverage:after_E1 1.000000 1206 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GCSH ENST00000315467.9 9 6 3 1 2 5 19 GCSH:single_exon:E4 0.444444 132 GCSH:exon_block:E1-E5 1.000000 1560 GCSH:boundary_CDS_coverage:after_E1 0.888889 371 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDAP1 ENST00000220822.12 102 91 21 1 10 6 25 GDAP1:single_exon:E6 0.264706 2892 GDAP1:exon_block:E2-E6 0.862745 3469 GDAP1:boundary_CDS_coverage:after_E1 0.892157 957 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDAP2 ENST00000369443.10 8 6 4 0 2 14 73 GDAP2:single_exon:E10 0.250000 77 GDAP2:exon_block:E7-E11 0.750000 611 GDAP2:boundary_CDS_coverage:after_E1 1.000000 1491 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDF1 ENST00000247005.8 31 29 0 2 0 8 37 GDF1:single_exon:E8 0.806452 846 GDF1:exon_block:E7-E8 0.935484 1483 GDF1:boundary_CDS_coverage:after_E1 1.000000 1116 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDF11 ENST00000257868.10 1 1 0 0 0 3 8 GDF11:single_exon:E3 1.000000 7763 GDF11:exon_block:E2-E3 1.000000 8161 GDF11:boundary_CDS_coverage:after_E2 1.000000 378 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDF2 ENST00000581492.3 14 14 0 0 0 2 4 GDF2:single_exon:E2 0.571429 2748 GDF2:exon_block:E1-E2 1.000000 3309 GDF2:boundary_CDS_coverage:after_E1 0.571429 941 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDF3 ENST00000329913.4 2 2 0 0 0 2 4 GDF3:single_exon:E1 0.500000 315 GDF3:exon_block:E1-E2 1.000000 1236 GDF3:boundary_CDS_coverage:after_E1 0.500000 824 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDF5 ENST00000374369.8 52 52 1 0 0 2 4 GDF5:single_exon:E2 0.557692 1437 GDF5:exon_block:E1-E2 1.000000 2368 GDF5:boundary_CDS_coverage:after_E1 0.557692 872 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDF6 ENST00000287020.7 5 5 0 0 0 2 4 GDF6:single_exon:E2 0.800000 3192 GDF6:exon_block:E1-E2 1.000000 3712 GDF6:boundary_CDS_coverage:after_E1 0.800000 959 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDF9 ENST00000687138.1 6 5 0 1 0 2 4 GDF9:single_exon:E2 1.000000 1372 GDF9:exon_block:E1-E2 1.000000 3705 GDF9:boundary_CDS_coverage:after_E1 1.000000 965 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GDI1 ENST00000447750.7 15 13 3 0 2 11 55 GDI1:single_exon:E6 0.200000 132 GDI1:exon_block:E6-E10 0.600000 604 GDI1:boundary_CDS_coverage:after_E1 1.000000 1296 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GEMIN4 ENST00000319004.6 3 3 0 0 0 2 4 GEMIN4:single_exon:E2 1.000000 3612 GEMIN4:exon_block:E1-E2 1.000000 3744 GEMIN4:boundary_CDS_coverage:after_E1 1.000000 3164 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GEMIN5 ENST00000285873.8 32 27 10 0 5 28 157 GEMIN5:single_exon:E26 0.125000 502 GEMIN5:exon_block:E20-E24 0.312500 869 GEMIN5:boundary_CDS_coverage:after_E1 0.968750 4358 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GET3 ENST00000357332.8 1 1 0 0 0 7 31 GET3:single_exon:E4 1.000000 151 GET3:exon_block:E4-E5 1.000000 259 GET3:boundary_CDS_coverage:after_E3 1.000000 586 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GFAP ENST00000588735.3 74 72 10 0 2 9 43 GFAP:single_exon:E1 0.378378 475 GFAP:exon_block:E4-E8 0.594595 639 GFAP:boundary_CDS_coverage:after_E3 0.621622 678 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GFER ENST00000248114.7 8 7 0 0 1 3 8 GFER:single_exon:E3 0.625000 1884 GFER:exon_block:E1-E3 0.875000 2365 GFER:boundary_CDS_coverage:after_E1 0.750000 357 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GFI1 ENST00000294702.6 1 1 0 0 0 7 31 GFI1:single_exon:E7 1.000000 3165 GFI1:exon_block:E6-E7 1.000000 3331 GFI1:boundary_CDS_coverage:after_E6 1.000000 176 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GFI1B ENST00000372122.4 11 9 4 0 2 7 31 GFI1B:single_exon:E6 0.454545 166 GFI1B:exon_block:E5-E7 1.000000 1120 GFI1B:boundary_CDS_coverage:after_E4 1.000000 480 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GFM1 ENST00000486715.6 202 154 72 0 48 18 97 GFM1:single_exon:E4 0.099010 205 GFM1:exon_block:E3-E7 0.391089 764 GFM1:boundary_CDS_coverage:after_E1 0.975248 2172 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GFM2 ENST00000296805.8 15 8 6 0 7 21 115 GFM2:single_exon:E13 0.200000 141 GFM2:exon_block:E13-E17 0.400000 647 GFM2:boundary_CDS_coverage:after_E4 1.000000 2131 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GFPT1 ENST00000357308.9 45 34 21 0 11 20 109 GFPT1:single_exon:E9 0.200000 54 GFPT1:exon_block:E8-E12 0.488889 500 GFPT1:boundary_CDS_coverage:after_E1 0.977778 2090 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GFRA1 ENST00000355422.11 4 4 0 0 0 11 55 GFRA1:single_exon:E6 0.500000 337 GFRA1:exon_block:E6-E7 0.750000 447 GFRA1:boundary_CDS_coverage:after_E5 1.000000 962 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GGA3 ENST00000537686.6 2 0 0 0 0 17 91 GGA3:single_exon:E1 0.000000 59 GGA3:exon_block:E1-E2 0.000000 144 GGA3:boundary_CDS_coverage:after_E16 1.000000 108 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GGCX ENST00000233838.9 53 46 16 0 7 15 79 GGCX:single_exon:E8 0.188679 266 GGCX:exon_block:E7-E11 0.584906 884 GGCX:boundary_CDS_coverage:after_E1 1.000000 2231 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GGN ENST00000334928.11 2 2 0 0 0 4 13 GGN:single_exon:E3 1.000000 1860 GGN:exon_block:E2-E3 1.000000 1922 GGN:boundary_CDS_coverage:after_E1 1.000000 1956 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GGPS1 ENST00000282841.9 4 4 0 0 0 4 13 GGPS1:single_exon:E4 1.000000 2522 GGPS1:exon_block:E3-E4 1.000000 2593 GGPS1:boundary_CDS_coverage:after_E3 1.000000 759 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GH1 ENST00000323322.10 28 15 14 0 13 5 19 GH1:single_exon:E3 0.571429 120 GH1:exon_block:E2-E5 0.892857 750 GH1:boundary_CDS_coverage:after_E1 1.000000 641 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GHR ENST00000230882.9 57 44 15 0 13 10 49 GHR:single_exon:E5 0.192982 173 GHR:exon_block:E4-E8 0.666667 739 GHR:boundary_CDS_coverage:after_E1 1.000000 1914 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GHRHR ENST00000326139.7 40 32 15 0 5 13 67 GHRHR:single_exon:E5 0.150000 98 GHRHR:exon_block:E3-E7 0.575000 591 GHRHR:boundary_CDS_coverage:after_E1 0.900000 1212 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GHSR ENST00000241256.3 2 2 0 0 0 2 4 GHSR:single_exon:E1 1.000000 839 GHSR:exon_block:E1-E2 1.000000 3014 GHSR:boundary_CDS_coverage:after_E1 0.000000 302 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GIGYF1 ENST00000678049.1 17 15 2 1 1 27 151 GIGYF1:single_exon:E10 0.176471 171 GIGYF1:exon_block:E10-E13 0.411765 669 GIGYF1:boundary_CDS_coverage:after_E4 1.000000 3070 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GIGYF2 ENST00000373563.9 11 0 0 0 11 29 163 GIGYF2:single_exon:E8 0.000000 41 GIGYF2:exon_block:E1-E2 0.000000 128 GIGYF2:boundary_CDS_coverage:after_E8 1.000000 3365 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GIMAP5 ENST00000358647.5 3 3 0 0 0 3 8 GIMAP5:single_exon:E3 1.000000 1464 GIMAP5:exon_block:E2-E3 1.000000 1513 GIMAP5:boundary_CDS_coverage:after_E2 1.000000 878 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GIMAP6 ENST00000328902.9 1 1 0 0 0 3 8 GIMAP6:single_exon:E3 1.000000 3138 GIMAP6:exon_block:E2-E3 1.000000 3223 GIMAP6:boundary_CDS_coverage:after_E2 1.000000 791 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GINS1 ENST00000262460.5 2 1 1 1 0 7 31 GINS1:single_exon:E6 0.500000 75 GINS1:exon_block:E5-E6 0.500000 192 GINS1:boundary_CDS_coverage:after_E5 0.500000 141 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GINS3 ENST00000318129.6 2 2 0 0 0 3 8 GINS3:single_exon:E1 1.000000 317 GINS3:exon_block:E1-E2 1.000000 551 GINS3:boundary_CDS_coverage:after_E2 0.000000 228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GIPC3 ENST00000644452.3 28 24 6 1 3 6 25 GIPC3:single_exon:E2 0.285714 186 GIPC3:exon_block:E1-E5 0.928571 907 GIPC3:boundary_CDS_coverage:after_E1 0.750000 711 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJA1 ENST00000282561.4 60 60 0 0 0 2 4 GJA1:single_exon:E2 1.000000 2896 GJA1:exon_block:E1-E2 1.000000 3083 GJA1:boundary_CDS_coverage:after_E1 1.000000 1146 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJA3 ENST00000241125.4 39 39 0 0 0 2 4 GJA3:single_exon:E2 1.000000 5051 GJA3:exon_block:E1-E2 1.000000 5214 GJA3:boundary_CDS_coverage:after_E1 1.000000 1305 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJA4 ENST00000342280.5 1 1 0 0 0 2 4 GJA4:single_exon:E2 1.000000 1551 GJA4:exon_block:E1-E2 1.000000 1621 GJA4:boundary_CDS_coverage:after_E1 1.000000 999 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJA5 ENST00000579774.3 7 7 0 0 0 2 4 GJA5:single_exon:E2 1.000000 3073 GJA5:exon_block:E1-E2 1.000000 3177 GJA5:boundary_CDS_coverage:after_E1 1.000000 1074 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJA8 ENST00000369235.2 52 52 0 0 0 2 4 GJA8:single_exon:E2 1.000000 1325 GJA8:exon_block:E1-E2 1.000000 1392 GJA8:boundary_CDS_coverage:after_E1 1.000000 1299 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJB1 ENST00000361726.7 256 248 4 4 3 2 4 GJB1:single_exon:E2 0.980469 1825 GJB1:exon_block:E1-E2 0.992188 1937 GJB1:boundary_CDS_coverage:after_E1 0.992188 849 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJB2 ENST00000382848.5 247 242 4 1 4 2 4 GJB2:single_exon:E2 0.991903 2134 GJB2:exon_block:E1-E2 1.000000 2290 GJB2:boundary_CDS_coverage:after_E1 1.000000 678 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJB3 ENST00000373366.3 11 11 0 0 0 2 4 GJB3:single_exon:E2 1.000000 1627 GJB3:exon_block:E1-E2 1.000000 2192 GJB3:boundary_CDS_coverage:after_E1 1.000000 810 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJB4 ENST00000339480.3 5 5 0 0 0 2 4 GJB4:single_exon:E2 1.000000 1395 GJB4:exon_block:E1-E2 1.000000 1444 GJB4:boundary_CDS_coverage:after_E1 1.000000 798 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJB6 ENST00000647029.1 10 9 1 0 1 5 19 GJB6:single_exon:E5 1.000000 1534 GJB6:exon_block:E4-E5 1.000000 1704 GJB6:boundary_CDS_coverage:after_E1 1.000000 783 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GJC2 ENST00000366714.3 75 72 1 0 1 2 4 GJC2:single_exon:E2 0.960000 2087 GJC2:exon_block:E1-E2 0.973333 2165 GJC2:boundary_CDS_coverage:after_E1 0.973333 1317 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GK ENST00000427190.6 22 13 12 0 9 21 115 GK:single_exon:E7 0.136364 110 GK:exon_block:E3-E7 0.409091 510 GK:boundary_CDS_coverage:after_E1 1.000000 1599 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLA ENST00000218516.4 1115 1045 159 3 67 7 31 GLA:single_exon:E7 0.188341 297 GLA:exon_block:E3-E7 0.723767 927 GLA:boundary_CDS_coverage:after_E1 0.853812 1093 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLB1 ENST00000307363.10 322 274 101 0 48 16 85 GLB1:single_exon:E15 0.118012 255 GLB1:exon_block:E2-E6 0.400621 658 GLB1:boundary_CDS_coverage:after_E1 0.978261 1956 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLDC ENST00000321612.8 481 390 160 0 91 25 139 GLDC:single_exon:E4 0.074844 165 GLDC:exon_block:E15-E19 0.259875 608 GLDC:boundary_CDS_coverage:after_E1 0.950104 2805 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLDN ENST00000335449.11 26 21 6 0 5 10 49 GLDN:single_exon:E10 0.384615 3724 GLDN:exon_block:E6-E10 0.692308 4214 GLDN:boundary_CDS_coverage:after_E1 0.769231 1290 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLE1 ENST00000309971.9 157 121 50 1 35 16 85 GLE1:single_exon:E7 0.121019 232 GLE1:exon_block:E4-E8 0.401274 810 GLE1:boundary_CDS_coverage:after_E1 0.974522 1995 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLI1 ENST00000228682.7 10 9 1 0 1 12 61 GLI1:single_exon:E12 0.400000 1952 GLI1:exon_block:E8-E12 0.900000 2766 GLI1:boundary_CDS_coverage:after_E3 1.000000 3125 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLI2 ENST00000361492.9 90 81 10 1 8 14 73 GLI2:single_exon:E14 0.388889 4446 GLI2:exon_block:E10-E14 0.622222 5371 GLI2:boundary_CDS_coverage:after_E1 1.000000 4707 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLI3 ENST00000395925.8 196 179 25 0 17 15 79 GLI3:single_exon:E15 0.515306 5693 GLI3:exon_block:E11-E15 0.739796 6627 GLI3:boundary_CDS_coverage:after_E1 1.000000 4740 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLIS2 ENST00000433375.2 1 0 1 0 1 7 31 GLIS2:single_exon:E6 1.000000 119 GLIS2:exon_block:E5-E6 1.000000 253 GLIS2:boundary_CDS_coverage:after_E6 1.000000 797 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLIS3 ENST00000381971.8 16 15 1 0 1 11 55 GLIS3:single_exon:E4 0.500000 1114 GLIS3:exon_block:E2-E4 0.875000 1808 GLIS3:boundary_CDS_coverage:after_E1 1.000000 2790 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLMN ENST00000370360.8 52 38 25 0 14 19 103 GLMN:single_exon:E8 0.134615 188 GLMN:exon_block:E13-E17 0.384615 445 GLMN:boundary_CDS_coverage:after_E1 1.000000 1782 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLRA1 ENST00000274576.9 78 67 22 0 11 9 43 GLRA1:single_exon:E7 0.307692 215 GLRA1:exon_block:E4-E8 0.820513 807 GLRA1:boundary_CDS_coverage:after_E1 0.987179 1291 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLRA2 ENST00000218075.9 10 10 1 0 0 9 43 GLRA2:single_exon:E4 0.400000 224 GLRA2:exon_block:E4-E8 0.700000 810 GLRA2:boundary_CDS_coverage:after_E1 1.000000 1288 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLRB ENST00000264428.9 21 15 10 0 6 10 49 GLRB:single_exon:E5 0.238095 230 GLRB:exon_block:E4-E8 0.666667 675 GLRB:boundary_CDS_coverage:after_E1 1.000000 1491 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLRX5 ENST00000331334.5 9 9 2 0 0 2 4 GLRX5:single_exon:E1 0.555556 335 GLRX5:exon_block:E1-E2 1.000000 1103 GLRX5:boundary_CDS_coverage:after_E1 0.444444 176 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLS ENST00000320717.8 18 15 4 1 2 18 97 GLS:single_exon:E1 0.222222 650 GLS:exon_block:E1-E5 0.444444 1079 GLS:boundary_CDS_coverage:after_E1 0.833333 1621 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLT8D1 ENST00000266014.11 1 1 0 0 0 10 49 GLT8D1:single_exon:E5 1.000000 118 GLT8D1:exon_block:E5-E6 1.000000 203 GLT8D1:boundary_CDS_coverage:after_E4 1.000000 784 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLUD1 ENST00000277865.5 15 15 5 0 0 13 67 GLUD1:single_exon:E7 0.400000 138 GLUD1:exon_block:E6-E7 0.533333 318 GLUD1:boundary_CDS_coverage:after_E5 1.000000 933 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLUD2 ENST00000328078.3 1 1 0 0 0 1 1 GLUD2:single_exon:E1 1.000000 2485 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLUL ENST00000331872.11 13 11 4 0 2 7 31 GLUL:single_exon:E2 0.461538 179 GLUL:exon_block:E2-E6 0.692308 816 GLUL:boundary_CDS_coverage:after_E1 1.000000 1119 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GLYCTK ENST00000436784.7 5 5 0 0 0 5 19 GLYCTK:single_exon:E5 0.600000 2998 GLYCTK:exon_block:E2-E5 1.000000 3742 GLYCTK:boundary_CDS_coverage:after_E1 1.000000 1569 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GM2A ENST00000357164.4 16 14 1 0 2 4 13 GM2A:single_exon:E3 0.562500 183 GM2A:exon_block:E1-E4 0.937500 3603 GM2A:boundary_CDS_coverage:after_E1 0.937500 498 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GMNN ENST00000230056.8 3 3 1 0 0 7 31 GMNN:single_exon:E2 1.000000 76 GMNN:exon_block:E2-E3 1.000000 154 GMNN:boundary_CDS_coverage:after_E1 1.000000 627 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GMPPA ENST00000313597.10 17 13 5 0 4 13 67 GMPPA:single_exon:E5 0.235294 187 GMPPA:exon_block:E3-E7 0.588235 580 GMPPA:boundary_CDS_coverage:after_E2 1.000000 1220 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GMPPB ENST00000308388.7 60 48 17 0 12 9 43 GMPPB:single_exon:E4 0.166667 143 GMPPB:exon_block:E4-E8 0.600000 692 GMPPB:boundary_CDS_coverage:after_E1 0.900000 951 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNA11 ENST00000078429.9 20 19 2 0 1 7 31 GNA11:single_exon:E5 0.300000 130 GNA11:exon_block:E2-E6 0.900000 753 GNA11:boundary_CDS_coverage:after_E1 1.000000 941 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNA14 ENST00000341700.7 1 1 0 0 0 7 31 GNA14:single_exon:E5 1.000000 130 GNA14:exon_block:E4-E5 1.000000 259 GNA14:boundary_CDS_coverage:after_E4 1.000000 472 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAI1 ENST00000649796.2 22 22 4 0 0 8 37 GNAI1:single_exon:E2 0.318182 43 GNAI1:exon_block:E2-E6 0.590909 602 GNAI1:boundary_CDS_coverage:after_E1 0.954545 944 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAI2 ENST00000313601.11 5 5 1 0 0 9 42 GNAI2:single_exon:E5 0.800000 129 GNAI2:exon_block:E5-E6 1.000000 259 GNAI2:boundary_CDS_coverage:after_E4 1.000000 601 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAI3 ENST00000369851.7 9 8 2 0 0 9 42 GNAI3:single_exon:E2 0.555556 43 GNAI3:exon_block:E1-E2 0.666667 267 GNAI3:boundary_CDS_coverage:after_E1 1.000000 944 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAL ENST00000334049.11 23 16 6 0 7 12 61 GNAL:single_exon:E5 0.173913 98 GNAL:exon_block:E2-E5 0.434783 346 GNAL:boundary_CDS_coverage:after_E1 1.000000 998 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAO1 ENST00000262493.12 100 91 28 0 9 9 42 GNAO1:single_exon:E6 0.290000 130 GNAO1:exon_block:E4-E8 0.720000 790 GNAO1:boundary_CDS_coverage:after_E1 0.930000 944 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAQ ENST00000286548.9 8 8 1 0 0 7 31 GNAQ:single_exon:E5 0.500000 130 GNAQ:exon_block:E2-E5 1.000000 599 GNAQ:boundary_CDS_coverage:after_E1 1.000000 941 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAS ENST00000371085.8 235 186 60 3 36 13 67 GNAS:single_exon:E1 0.161702 445 GNAS:exon_block:E1-E5 0.404255 738 GNAS:boundary_CDS_coverage:after_E1 0.812766 1043 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAS-AS1 ENST00000718285.1 4 0 0 0 4 5 15 GNAS-AS1:single_exon:E2 0.000000 39 GNAS-AS1:exon_block:E2-E3 0.000000 152 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAT1 ENST00000232461.8 25 22 8 1 2 9 42 GNAT1:single_exon:E3 0.240000 142 GNAT1:exon_block:E2-E6 0.760000 602 GNAT1:boundary_CDS_coverage:after_E1 0.840000 944 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNAT2 ENST00000679935.1 35 25 12 0 10 9 43 GNAT2:single_exon:E7 0.228571 130 GNAT2:exon_block:E4-E8 0.800000 713 GNAT2:boundary_CDS_coverage:after_E1 1.000000 1062 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNB1 ENST00000378609.9 58 50 15 0 8 12 60 GNB1:single_exon:E6 0.310345 64 GNB1:exon_block:E6-E10 0.793103 713 GNB1:boundary_CDS_coverage:after_E1 1.000000 1020 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNB2 ENST00000303210.9 12 12 2 0 0 10 49 GNB2:single_exon:E5 0.583333 64 GNB2:exon_block:E4-E6 0.916667 334 GNB2:boundary_CDS_coverage:after_E3 1.000000 924 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNB3 ENST00000229264.8 2 2 0 0 0 10 49 GNB3:single_exon:E4 0.500000 107 GNB3:exon_block:E3-E4 0.500000 146 GNB3:boundary_CDS_coverage:after_E3 1.000000 924 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNB4 ENST00000232564.8 6 6 1 0 0 10 49 GNB4:single_exon:E5 0.500000 64 GNB4:exon_block:E4-E8 1.000000 603 GNB4:boundary_CDS_coverage:after_E3 1.000000 924 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNB5 ENST00000261837.12 32 23 15 0 9 13 67 GNB5:single_exon:E4 0.312500 137 GNB5:exon_block:E4-E8 0.625000 533 GNB5:boundary_CDS_coverage:after_E1 1.000000 1185 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNE ENST00000642385.2 223 185 42 5 27 12 61 GNE:single_exon:E3 0.165919 452 GNE:exon_block:E3-E7 0.515695 1117 GNE:boundary_CDS_coverage:after_E1 0.973094 2166 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNG3 ENST00000294117.6 2 1 1 0 0 3 8 GNG3:single_exon:E2 0.500000 100 GNG3:exon_block:E1-E2 0.500000 340 GNG3:boundary_CDS_coverage:after_E1 0.500000 225 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNMT ENST00000372808.4 2 2 0 0 0 6 25 GNMT:single_exon:E3 0.500000 117 GNMT:exon_block:E1-E3 1.000000 465 GNMT:boundary_CDS_coverage:after_E2 0.500000 551 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNPAT ENST00000366647.9 65 50 21 0 15 16 85 GNPAT:single_exon:E7 0.169231 152 GNPAT:exon_block:E7-E11 0.492308 830 GNPAT:boundary_CDS_coverage:after_E1 0.984615 1962 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNPNAT1 ENST00000216410.8 1 1 1 0 0 6 25 GNPNAT1:single_exon:E4 1.000000 128 GNPNAT1:exon_block:E4-E5 1.000000 190 GNPNAT1:boundary_CDS_coverage:after_E3 1.000000 335 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNPTAB ENST00000299314.12 436 377 92 1 58 21 115 GNPTAB:single_exon:E13 0.288991 1103 GNPTAB:exon_block:E11-E15 0.506881 1851 GNPTAB:boundary_CDS_coverage:after_E1 0.949541 3651 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNPTG ENST00000204679.9 152 101 77 1 50 11 55 GNPTG:single_exon:E9 0.177632 132 GNPTG:exon_block:E5-E9 0.631579 508 GNPTG:boundary_CDS_coverage:after_E1 0.947368 863 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNRH1 ENST00000421054.7 3 3 0 0 0 4 13 GNRH1:single_exon:E2 1.000000 142 GNRH1:exon_block:E1-E2 1.000000 203 GNRH1:boundary_CDS_coverage:after_E1 1.000000 276 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNRHR ENST00000226413.5 43 40 5 0 3 3 8 GNRHR:single_exon:E1 0.558140 575 GNRHR:exon_block:E1-E3 1.000000 4402 GNRHR:boundary_CDS_coverage:after_E1 0.441860 462 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GNS ENST00000258145.8 83 66 28 0 17 14 73 GNS:single_exon:E3 0.168675 207 GNS:exon_block:E7-E11 0.433735 516 GNS:boundary_CDS_coverage:after_E1 0.903614 1464 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GOLGA2 ENST00000611957.5 10 9 2 0 1 27 151 GOLGA2:single_exon:E8 0.200000 81 GOLGA2:exon_block:E17-E20 0.400000 765 GOLGA2:boundary_CDS_coverage:after_E7 1.000000 2526 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GON4L ENST00000368331.6 2 1 1 0 1 32 181 GON4L:single_exon:E27 0.500000 120 GON4L:exon_block:E27-E28 0.500000 234 GON4L:boundary_CDS_coverage:after_E1 1.000000 6723 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GON7 ENST00000306954.5 2 2 0 0 0 2 4 GON7:single_exon:E1 1.000000 236 GON7:exon_block:E1-E2 1.000000 1125 GON7:boundary_CDS_coverage:after_E1 0.000000 92 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GORAB ENST00000367763.8 49 38 9 3 5 5 19 GORAB:single_exon:E2 0.448980 358 GORAB:exon_block:E1-E5 0.959184 2540 GORAB:boundary_CDS_coverage:after_E1 0.775510 1046 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GOSR2 ENST00000640051.2 27 21 11 0 6 6 25 GOSR2:single_exon:E4 0.333333 133 GOSR2:exon_block:E1-E5 0.962963 510 GOSR2:boundary_CDS_coverage:after_E1 0.814815 607 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GOT1 ENST00000370508.7 1 1 0 0 0 9 43 GOT1:single_exon:E9 1.000000 817 GOT1:exon_block:E8-E9 1.000000 960 GOT1:boundary_CDS_coverage:after_E8 1.000000 137 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GOT2 ENST00000245206.10 4 4 1 0 0 10 49 GOT2:single_exon:E6 0.250000 105 GOT2:exon_block:E6-E9 1.000000 573 GOT2:boundary_CDS_coverage:after_E5 1.000000 693 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GP1BA ENST00000329125.6 84 84 0 0 0 2 4 GP1BA:single_exon:E2 1.000000 2425 GP1BA:exon_block:E1-E2 1.000000 2514 GP1BA:boundary_CDS_coverage:after_E1 1.000000 1956 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GP1BB ENST00000366425.4 41 40 5 0 0 2 4 GP1BB:single_exon:E2 0.878049 918 GP1BB:exon_block:E1-E2 0.975610 959 GP1BB:boundary_CDS_coverage:after_E1 0.878049 608 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GP6 ENST00000417454.5 19 15 5 0 4 8 37 GP6:single_exon:E4 0.473684 285 GP6:exon_block:E2-E6 0.947368 690 GP6:boundary_CDS_coverage:after_E1 1.000000 983 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GP9 ENST00000307395.5 26 24 1 0 0 3 8 GP9:single_exon:E3 0.923077 679 GP9:exon_block:E1-E3 0.961538 877 GP9:boundary_CDS_coverage:after_E1 0.923077 531 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPAA1 ENST00000355091.9 48 34 23 0 14 12 61 GPAA1:single_exon:E7 0.250000 197 GPAA1:exon_block:E5-E9 0.708333 746 GPAA1:boundary_CDS_coverage:after_E1 0.979167 1789 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPAT2 ENST00000434632.6 3 2 1 0 1 22 121 GPAT2:single_exon:E17 0.333333 78 GPAT2:exon_block:E17-E18 0.666667 210 GPAT2:boundary_CDS_coverage:after_E11 1.000000 1248 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPATCH11 ENST00000674370.2 4 2 3 0 2 9 43 GPATCH11:single_exon:E5 0.500000 121 GPATCH11:exon_block:E4-E6 1.000000 254 GPATCH11:boundary_CDS_coverage:after_E4 1.000000 461 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPC3 ENST00000370818.8 67 55 18 0 12 8 37 GPC3:single_exon:E3 0.298507 695 GPC3:exon_block:E2-E6 0.731343 1238 GPC3:boundary_CDS_coverage:after_E1 0.940299 1565 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPC4 ENST00000370828.4 16 16 2 0 0 9 43 GPC4:single_exon:E9 0.437500 2967 GPC4:exon_block:E6-E9 0.687500 3427 GPC4:boundary_CDS_coverage:after_E1 1.000000 1508 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPC6 ENST00000377047.9 4 4 0 0 0 9 43 GPC6:single_exon:E3 0.750000 392 GPC6:exon_block:E3-E4 1.000000 558 GPC6:boundary_CDS_coverage:after_E2 1.000000 1346 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPD1 ENST00000301149.8 20 15 7 0 5 8 37 GPD1:single_exon:E6 0.300000 234 GPD1:exon_block:E3-E7 0.750000 734 GPD1:boundary_CDS_coverage:after_E1 1.000000 1006 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPD2 ENST00000438166.7 1 1 0 0 0 17 91 GPD2:single_exon:E15 1.000000 79 GPD2:exon_block:E15-E16 1.000000 178 GPD2:boundary_CDS_coverage:after_E14 1.000000 301 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPHN ENST00000478722.6 207 28 22 0 15 23 127 GPHN:single_exon:E8 0.038647 99 GPHN:exon_block:E8-E12 0.077295 508 GPHN:boundary_CDS_coverage:after_E1 1.000000 2243 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPI ENST00000356487.11 33 28 7 0 4 18 97 GPI:single_exon:E12 0.212121 153 GPI:exon_block:E9-E13 0.515152 442 GPI:boundary_CDS_coverage:after_E2 0.878788 1461 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPIHBP1 ENST00000622500.2 22 19 4 0 3 4 13 GPIHBP1:single_exon:E3 0.454545 114 GPIHBP1:exon_block:E1-E4 1.000000 2257 GPIHBP1:boundary_CDS_coverage:after_E1 1.000000 500 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPLD1 ENST00000230036.2 21 0 0 0 0 25 139 GPLD1:single_exon:E23 0.000000 27 GPLD1:exon_block:E23-E24 0.000000 78 GPLD1:boundary_CDS_coverage:after_E24 0.000000 84 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPN2 ENST00000374135.9 1 1 0 0 0 5 19 GPN2:single_exon:E1 1.000000 598 GPN2:exon_block:E1-E2 1.000000 755 GPN2:boundary_CDS_coverage:after_E4 0.000000 70 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPNMB ENST00000258733.9 15 12 3 0 3 11 55 GPNMB:single_exon:E6 0.466667 318 GPNMB:exon_block:E3-E7 0.866667 894 GPNMB:boundary_CDS_coverage:after_E2 1.000000 1457 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR101 ENST00000651716.2 1 1 0 0 0 2 4 GPR101:single_exon:E2 1.000000 7838 GPR101:exon_block:E1-E2 1.000000 8032 GPR101:boundary_CDS_coverage:after_E1 1.000000 1524 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR143 ENST00000467482.6 112 86 44 0 26 9 43 GPR143:single_exon:E1 0.312500 280 GPR143:exon_block:E1-E5 0.714286 688 GPR143:boundary_CDS_coverage:after_E1 0.723214 962 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR153 ENST00000377893.3 1 1 0 0 0 6 25 GPR153:single_exon:E2 1.000000 465 GPR153:exon_block:E1-E2 1.000000 739 GPR153:boundary_CDS_coverage:after_E1 1.000000 1827 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR156 ENST00000464295.6 5 3 3 0 2 10 49 GPR156:single_exon:E10 0.400000 2907 GPR156:exon_block:E6-E10 0.800000 3525 GPR156:boundary_CDS_coverage:after_E5 1.000000 1968 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR161 ENST00000682931.1 2 2 0 0 0 6 25 GPR161:single_exon:E3 1.000000 725 GPR161:exon_block:E3-E4 1.000000 830 GPR161:boundary_CDS_coverage:after_E2 1.000000 1213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR179 ENST00000616987.5 45 40 8 0 5 11 55 GPR179:single_exon:E1 0.377778 961 GPR179:exon_block:E1-E5 0.644444 1463 GPR179:boundary_CDS_coverage:after_E1 0.622222 6307 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR19 ENST00000651487.1 1 0 0 0 0 4 13 GPR19:single_exon:E2 0.000000 53 GPR19:exon_block:E1-E2 0.000000 172 GPR19:boundary_CDS_coverage:after_E1 0.000000 1245 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR68 ENST00000650645.1 4 4 0 0 0 2 4 GPR68:single_exon:E2 1.000000 2648 GPR68:exon_block:E1-E2 1.000000 3056 GPR68:boundary_CDS_coverage:after_E1 1.000000 1095 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPR88 ENST00000315033.5 1 1 0 0 0 2 4 GPR88:single_exon:E2 1.000000 3128 GPR88:exon_block:E1-E2 1.000000 3492 GPR88:boundary_CDS_coverage:after_E1 1.000000 1152 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPRASP2 ENST00000483720.7 2 2 0 0 0 5 19 GPRASP2:single_exon:E5 1.000000 3197 GPRASP2:exon_block:E4-E5 1.000000 3275 GPRASP2:boundary_CDS_coverage:after_E1 1.000000 2514 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPRC5B ENST00000300571.7 2 2 0 0 0 4 13 GPRC5B:single_exon:E2 1.000000 1031 GPRC5B:exon_block:E1-E2 1.000000 1153 GPRC5B:boundary_CDS_coverage:after_E1 1.000000 1209 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPSM2 ENST00000264126.9 37 27 14 0 10 15 79 GPSM2:single_exon:E13 0.216216 160 GPSM2:exon_block:E9-E13 0.567568 647 GPSM2:boundary_CDS_coverage:after_E2 1.000000 1996 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPT2 ENST00000340124.9 18 17 3 0 1 12 61 GPT2:single_exon:E3 0.222222 90 GPT2:exon_block:E2-E6 0.666667 842 GPT2:boundary_CDS_coverage:after_E1 1.000000 1569 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GPX4 ENST00000354171.13 15 7 6 0 8 7 31 GPX4:single_exon:E6 0.266667 60 GPX4:exon_block:E2-E6 0.733333 477 GPX4:boundary_CDS_coverage:after_E1 1.000000 507 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRAMD1B ENST00000635736.2 1 1 0 0 0 20 109 GRAMD1B:single_exon:E6 1.000000 104 GRAMD1B:exon_block:E5-E6 1.000000 189 GRAMD1B:boundary_CDS_coverage:after_E5 1.000000 1862 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRAP ENST00000284154.10 1 1 0 0 0 5 19 GRAP:single_exon:E4 1.000000 169 GRAP:exon_block:E3-E4 1.000000 292 GRAP:boundary_CDS_coverage:after_E3 1.000000 352 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GREB1L ENST00000424526.7 86 79 18 0 7 33 187 GREB1L:single_exon:E22 0.104651 578 GREB1L:exon_block:E22-E26 0.255814 1139 GREB1L:boundary_CDS_coverage:after_E1 1.000000 5769 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GREM2 ENST00000318160.5 1 1 0 0 0 2 4 GREM2:single_exon:E2 1.000000 3904 GREM2:exon_block:E1-E2 1.000000 4176 GREM2:boundary_CDS_coverage:after_E1 1.000000 504 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRHL2 ENST00000646743.1 27 16 12 0 11 16 85 GRHL2:single_exon:E10 0.148148 88 GRHL2:exon_block:E6-E10 0.518519 611 GRHL2:boundary_CDS_coverage:after_E1 1.000000 1855 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRHL3 ENST00000361548.9 20 14 8 0 6 16 85 GRHL3:single_exon:E7 0.250000 112 GRHL3:exon_block:E7-E11 0.650000 579 GRHL3:boundary_CDS_coverage:after_E1 1.000000 1789 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRHPR ENST00000318158.11 164 128 60 1 35 9 43 GRHPR:single_exon:E2 0.152439 131 GRHPR:exon_block:E2-E6 0.585366 515 GRHPR:boundary_CDS_coverage:after_E1 0.945122 901 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIA1 ENST00000285900.10 8 8 1 0 0 16 85 GRIA1:single_exon:E11 0.250000 371 GRIA1:exon_block:E11-E13 0.500000 818 GRIA1:boundary_CDS_coverage:after_E2 1.000000 2498 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIA2 ENST00000264426.14 42 42 2 0 0 16 84 GRIA2:single_exon:E12 0.333333 199 GRIA2:exon_block:E11-E15 0.833333 1182 GRIA2:boundary_CDS_coverage:after_E2 1.000000 2420 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIA3 ENST00000620443.2 37 33 5 0 4 16 84 GRIA3:single_exon:E12 0.351351 199 GRIA3:exon_block:E10-E14 0.756757 1146 GRIA3:boundary_CDS_coverage:after_E2 1.000000 2414 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIA4 ENST00000282499.10 11 11 0 0 0 17 91 GRIA4:single_exon:E13 0.545455 199 GRIA4:exon_block:E13-E14 0.818182 447 GRIA4:boundary_CDS_coverage:after_E3 1.000000 2459 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRID1 ENST00000327946.12 1 1 0 0 0 16 85 GRID1:single_exon:E12 1.000000 139 GRID1:exon_block:E12-E13 1.000000 335 GRID1:boundary_CDS_coverage:after_E11 1.000000 1169 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRID2 ENST00000282020.9 10 10 0 0 0 16 85 GRID2:single_exon:E12 0.500000 139 GRID2:exon_block:E12-E13 0.600000 335 GRID2:boundary_CDS_coverage:after_E3 0.900000 2492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIK2 ENST00000369134.9 13 11 3 0 2 17 91 GRIK2:single_exon:E14 0.384615 218 GRIK2:exon_block:E10-E14 0.538462 882 GRIK2:boundary_CDS_coverage:after_E2 1.000000 2609 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIN1 ENST00000371561.8 122 111 28 1 10 20 109 GRIN1:single_exon:E14 0.270492 149 GRIN1:exon_block:E11-E15 0.581967 704 GRIN1:boundary_CDS_coverage:after_E1 0.991803 2556 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIN2A ENST00000330684.4 291 249 62 1 41 13 67 GRIN2A:single_exon:E9 0.161512 230 GRIN2A:exon_block:E9-E13 0.512027 12359 GRIN2A:boundary_CDS_coverage:after_E1 1.000000 4392 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIN2B ENST00000609686.4 273 255 40 0 18 14 73 GRIN2B:single_exon:E13 0.175824 239 GRIN2B:exon_block:E10-E14 0.633700 28121 GRIN2B:boundary_CDS_coverage:after_E1 1.000000 4452 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIN2D ENST00000263269.4 15 15 1 0 0 14 73 GRIN2D:single_exon:E10 0.600000 230 GRIN2D:exon_block:E9-E13 0.866667 938 GRIN2D:boundary_CDS_coverage:after_E5 1.000000 2808 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRIP1 ENST00000359742.9 31 21 14 0 10 25 139 GRIP1:single_exon:E11 0.225806 156 GRIP1:exon_block:E11-E15 0.419355 640 GRIP1:boundary_CDS_coverage:after_E1 0.935484 3329 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRK1 ENST00000335678.7 21 19 2 0 2 7 31 GRK1:single_exon:E5 0.285714 125 GRK1:exon_block:E1-E5 0.714286 1362 GRK1:boundary_CDS_coverage:after_E1 0.714286 990 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRK2 ENST00000308595.10 3 2 1 0 1 21 115 GRK2:single_exon:E7 0.333333 52 GRK2:exon_block:E6-E7 0.666667 114 GRK2:boundary_CDS_coverage:after_E5 1.000000 1626 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRM1 ENST00000282753.6 14 14 0 0 0 8 37 GRM1:single_exon:E7 0.357143 931 GRM1:exon_block:E4-E8 0.714286 5204 GRM1:boundary_CDS_coverage:after_E1 0.928571 2882 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRM6 ENST00000517717.3 62 54 16 0 8 11 55 GRM6:single_exon:E9 0.241935 624 GRM6:exon_block:E6-E10 0.580645 1424 GRM6:boundary_CDS_coverage:after_E1 1.000000 2631 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRM7 ENST00000357716.9 10 10 1 0 0 10 49 GRM7:single_exon:E8 0.500000 936 GRM7:exon_block:E6-E9 0.800000 1524 GRM7:boundary_CDS_coverage:after_E5 0.800000 1571 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRN ENST00000053867.8 133 104 44 0 29 13 67 GRN:single_exon:E2 0.150376 145 GRN:exon_block:E8-E12 0.496241 936 GRN:boundary_CDS_coverage:after_E1 1.000000 1779 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRWD1 ENST00000253237.10 2 2 0 0 0 7 31 GRWD1:single_exon:E6 0.500000 198 GRWD1:exon_block:E6-E7 1.000000 4513 GRWD1:boundary_CDS_coverage:after_E5 1.000000 513 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRXCR1 ENST00000399770.3 17 14 3 0 3 4 13 GRXCR1:single_exon:E2 0.352941 243 GRXCR1:exon_block:E1-E4 1.000000 1545 GRXCR1:boundary_CDS_coverage:after_E1 0.764706 486 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GRXCR2 ENST00000377976.3 7 7 0 0 0 3 8 GRXCR2:single_exon:E1 0.571429 382 GRXCR2:exon_block:E1-E3 1.000000 2005 GRXCR2:boundary_CDS_coverage:after_E1 0.428571 408 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSC ENST00000238558.5 3 2 1 0 1 3 8 GSC:single_exon:E1 0.666667 453 GSC:exon_block:E1-E2 1.000000 713 GSC:boundary_CDS_coverage:after_E1 0.666667 416 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSDME ENST00000645220.1 7 2 4 0 5 10 49 GSDME:single_exon:E8 0.857143 193 GSDME:exon_block:E8-E9 0.857143 267 GSDME:boundary_CDS_coverage:after_E7 1.000000 498 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSK3B ENST00000264235.13 3 3 2 0 0 11 55 GSK3B:single_exon:E4 0.333333 111 GSK3B:exon_block:E4-E5 0.666667 242 GSK3B:boundary_CDS_coverage:after_E3 1.000000 894 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSN ENST00000432226.7 6 5 1 0 1 18 97 GSN:single_exon:E5 0.500000 162 GSN:exon_block:E5-E7 0.666667 402 GSN:boundary_CDS_coverage:after_E1 1.000000 2193 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSPT2 ENST00000340438.6 1 1 0 0 0 1 1 GSPT2:single_exon:E1 1.000000 2791 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSR ENST00000221130.11 6 4 3 1 1 13 67 GSR:single_exon:E5 0.333333 148 GSR:exon_block:E3-E5 0.500000 307 GSR:boundary_CDS_coverage:after_E2 1.000000 1233 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSS ENST00000651619.1 54 44 17 0 10 13 67 GSS:single_exon:E2 0.148148 137 GSS:exon_block:E2-E6 0.481481 616 GSS:boundary_CDS_coverage:after_E1 1.000000 1422 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSTP1 ENST00000398606.10 1 0 0 0 1 7 31 GSTP1:single_exon:E1 0.000000 33 GSTP1:exon_block:E1-E2 0.000000 69 GSTP1:boundary_CDS_coverage:after_E5 1.000000 294 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSTT2B ENST00000290765.9 1 0 1 0 1 5 19 GSTT2B:single_exon:E2 1.000000 88 GSTT2B:exon_block:E2-E3 1.000000 239 GSTT2B:boundary_CDS_coverage:after_E2 1.000000 532 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GSTZ1 ENST00000216465.10 4 2 2 0 2 9 43 GSTZ1:single_exon:E4 0.500000 81 GSTZ1:exon_block:E3-E5 1.000000 275 GSTZ1:boundary_CDS_coverage:after_E2 1.000000 581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTF2E2 ENST00000355904.9 2 2 1 0 0 8 37 GTF2E2:single_exon:E6 0.500000 94 GTF2E2:exon_block:E5-E6 1.000000 277 GTF2E2:boundary_CDS_coverage:after_E4 1.000000 507 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTF2H5 ENST00000607778.2 10 9 3 0 1 3 8 GTF2H5:single_exon:E3 0.700000 7368 GTF2H5:exon_block:E2-E3 1.000000 7437 GTF2H5:boundary_CDS_coverage:after_E1 1.000000 213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTF2IRD1 ENST00000424337.7 1 1 0 0 0 27 151 GTF2IRD1:single_exon:E7 1.000000 90 GTF2IRD1:exon_block:E7-E8 1.000000 174 GTF2IRD1:boundary_CDS_coverage:after_E6 1.000000 1916 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTF3C1 ENST00000356183.9 2 2 0 0 0 37 211 GTF3C1:single_exon:E27 0.500000 113 GTF3C1:exon_block:E27-E28 0.500000 176 GTF3C1:boundary_CDS_coverage:after_E26 1.000000 2244 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTF3C3 ENST00000263956.8 10 9 2 0 1 18 97 GTF3C3:single_exon:E4 0.200000 124 GTF3C3:exon_block:E10-E11 0.400000 375 GTF3C3:boundary_CDS_coverage:after_E3 1.000000 2247 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTPBP1 ENST00000216044.10 3 3 1 0 0 12 61 GTPBP1:single_exon:E9 0.333333 136 GTPBP1:exon_block:E9-E10 0.666667 315 GTPBP1:boundary_CDS_coverage:after_E3 1.000000 1522 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTPBP2 ENST00000307126.10 12 10 2 0 2 12 61 GTPBP2:single_exon:E8 0.250000 136 GTPBP2:exon_block:E7-E11 0.666667 752 GTPBP2:boundary_CDS_coverage:after_E3 0.916667 1408 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTPBP3 ENST00000324894.13 48 42 6 0 5 9 43 GTPBP3:single_exon:E7 0.208333 166 GTPBP3:exon_block:E4-E8 0.604167 865 GTPBP3:boundary_CDS_coverage:after_E1 0.854167 1423 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GTSF1 ENST00000305879.8 2 2 0 0 0 9 42 GTSF1:single_exon:E3 0.500000 101 GTSF1:exon_block:E3-E4 1.000000 228 GTSF1:boundary_CDS_coverage:after_E2 1.000000 485 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GUCA1A ENST00000372958.2 29 29 4 0 0 4 13 GUCA1A:single_exon:E2 0.586207 150 GUCA1A:exon_block:E2-E4 1.000000 1058 GUCA1A:boundary_CDS_coverage:after_E1 1.000000 402 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GUCA1B ENST00000230361.4 1 0 0 0 0 4 13 GUCA1B:single_exon:E3 0.000000 118 GUCA1B:exon_block:E2-E3 0.000000 268 GUCA1B:boundary_CDS_coverage:after_E3 1.000000 125 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GUCY1A1 ENST00000506455.6 14 12 2 0 2 10 49 GUCY1A1:single_exon:E7 0.428571 486 GUCY1A1:exon_block:E6-E10 0.928571 8525 GUCY1A1:boundary_CDS_coverage:after_E4 1.000000 1753 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GUCY2C ENST00000261170.5 13 13 2 0 0 27 151 GUCY2C:single_exon:E21 0.384615 159 GUCY2C:exon_block:E21-E24 0.615385 626 GUCY2C:boundary_CDS_coverage:after_E1 1.000000 3002 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GUCY2D ENST00000254854.5 258 220 57 1 36 20 108 GUCY2D:single_exon:E2 0.174419 730 GUCY2D:exon_block:E12-E16 0.372093 780 GUCY2D:boundary_CDS_coverage:after_E1 0.996124 3309 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GUF1 ENST00000281543.6 1 1 1 0 0 17 91 GUF1:single_exon:E15 1.000000 120 GUF1:exon_block:E15-E16 1.000000 157 GUF1:boundary_CDS_coverage:after_E14 1.000000 292 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GUK1 ENST00000453943.6 4 3 1 0 1 8 37 GUK1:single_exon:E1 0.500000 85 GUK1:exon_block:E1-E2 1.000000 199 GUK1:boundary_CDS_coverage:after_E1 0.750000 593 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GUSB ENST00000304895.9 106 91 23 0 15 12 61 GUSB:single_exon:E1 0.169811 240 GUSB:exon_block:E1-E5 0.471698 942 GUSB:boundary_CDS_coverage:after_E1 0.830189 1743 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GYG1 ENST00000345003.9 40 31 17 0 9 8 37 GYG1:single_exon:E4 0.200000 163 GYG1:exon_block:E2-E6 0.775000 821 GYG1:boundary_CDS_coverage:after_E1 0.975000 1043 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GYPA ENST00000641688.3 1 1 1 0 0 7 31 GYPA:single_exon:E3 1.000000 96 GYPA:exon_block:E3-E4 1.000000 135 GYPA:boundary_CDS_coverage:after_E3 1.000000 218 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GYS1 ENST00000323798.8 42 30 17 0 12 16 85 GYS1:single_exon:E4 0.238095 186 GYS1:exon_block:E2-E6 0.547619 823 GYS1:boundary_CDS_coverage:after_E1 0.976190 2093 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GYS2 ENST00000261195.3 45 38 12 0 7 16 85 GYS2:single_exon:E12 0.155556 127 GYS2:exon_block:E1-E5 0.466667 1078 GYS2:boundary_CDS_coverage:after_E1 0.933333 1988 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true GZF1 ENST00000338121.10 12 12 0 0 0 6 25 GZF1:single_exon:E2 0.750000 1385 GZF1:exon_block:E2-E5 1.000000 1806 GZF1:boundary_CDS_coverage:after_E1 1.000000 2133 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H1-4 ENST00000304218.6 36 36 0 0 0 1 1 H1-4:single_exon:E1 1.000000 787 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H2AC16 ENST00000613174.2 1 1 0 0 0 1 1 H2AC16:single_exon:E1 1.000000 482 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H2AC17 ENST00000359611.4 1 1 0 0 0 1 1 H2AC17:single_exon:E1 1.000000 487 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H2AP ENST00000341016.5 1 1 0 0 0 1 1 H2AP:single_exon:E1 1.000000 536 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H2BC12 ENST00000356950.2 2 0 0 0 0 1 1 H2BC12:single_exon:E1 0.000000 495 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H3-3A ENST00000366815.10 20 20 2 0 0 4 13 H3-3A:single_exon:E4 0.450000 669 H3-3A:exon_block:E2-E4 1.000000 974 H3-3A:boundary_CDS_coverage:after_E1 1.000000 408 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H3-3B ENST00000254810.8 20 19 0 1 0 4 13 H3-3B:single_exon:E2 0.700000 138 H3-3B:exon_block:E2-E4 1.000000 2582 H3-3B:boundary_CDS_coverage:after_E1 1.000000 408 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H3C1 ENST00000613854.2 1 1 0 0 0 1 1 H3C1:single_exon:E1 1.000000 508 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H4C11 ENST00000355057.3 2 2 0 0 0 1 1 H4C11:single_exon:E1 1.000000 389 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H4C3 ENST00000377803.4 9 9 0 0 0 1 1 H4C3:single_exon:E1 1.000000 405 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H4C5 ENST00000615164.3 9 9 0 0 0 1 1 H4C5:single_exon:E1 1.000000 412 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H4C9 ENST00000615353.2 2 2 0 0 0 1 1 H4C9:single_exon:E1 1.000000 397 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true H6PD ENST00000377403.7 6 6 0 0 0 5 19 H6PD:single_exon:E4 0.333333 270 H6PD:exon_block:E2-E5 1.000000 8854 H6PD:boundary_CDS_coverage:after_E1 1.000000 2373 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HAAO ENST00000294973.11 10 9 3 0 1 10 49 HAAO:single_exon:E4 0.300000 107 HAAO:exon_block:E1-E5 0.800000 487 HAAO:boundary_CDS_coverage:after_E1 0.800000 778 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HACD1 ENST00000361271.8 14 11 4 0 3 7 31 HACD1:single_exon:E2 0.214286 118 HACD1:exon_block:E2-E6 0.785714 527 HACD1:boundary_CDS_coverage:after_E1 0.857143 607 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HACE1 ENST00000262903.9 34 26 10 0 8 24 133 HACE1:single_exon:E4 0.117647 105 HACE1:exon_block:E8-E12 0.323529 792 HACE1:boundary_CDS_coverage:after_E2 1.000000 2596 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HACL1 ENST00000321169.10 1 1 0 0 0 17 91 HACL1:single_exon:E11 1.000000 84 HACL1:exon_block:E11-E12 1.000000 186 HACL1:boundary_CDS_coverage:after_E10 1.000000 825 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HADH ENST00000309522.8 31 18 15 0 12 8 37 HADH:single_exon:E3 0.193548 158 HADH:exon_block:E1-E5 0.677419 680 HADH:boundary_CDS_coverage:after_E1 0.870968 810 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HADHA ENST00000380649.8 238 190 76 0 48 20 109 HADHA:single_exon:E19 0.088235 146 HADHA:exon_block:E15-E19 0.344538 667 HADHA:boundary_CDS_coverage:after_E1 0.974790 2222 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HADHB ENST00000317799.10 101 65 43 0 36 16 85 HADHB:single_exon:E9 0.138614 181 HADHB:exon_block:E6-E10 0.455446 679 HADHB:boundary_CDS_coverage:after_E1 1.000000 1422 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HAL ENST00000261208.8 1 1 0 0 0 21 115 HAL:single_exon:E18 1.000000 135 HAL:exon_block:E18-E19 1.000000 244 HAL:boundary_CDS_coverage:after_E17 1.000000 452 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HAMP ENST00000222304.5 8 7 2 1 0 3 8 HAMP:single_exon:E3 0.500000 206 HAMP:exon_block:E1-E3 1.000000 406 HAMP:boundary_CDS_coverage:after_E1 0.750000 162 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HAND2 ENST00000359562.4 2 2 0 0 0 2 4 HAND2:single_exon:E1 1.000000 1495 HAND2:exon_block:E1-E2 1.000000 2780 HAND2:boundary_CDS_coverage:after_E1 0.000000 96 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HAO1 ENST00000378789.4 1 1 0 0 0 8 37 HAO1:single_exon:E3 1.000000 256 HAO1:exon_block:E2-E3 1.000000 408 HAO1:boundary_CDS_coverage:after_E2 1.000000 821 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HARS1 ENST00000504156.7 10 9 5 1 0 13 67 HARS1:single_exon:E6 0.200000 108 HARS1:exon_block:E4-E8 0.600000 523 HARS1:boundary_CDS_coverage:after_E1 1.000000 1437 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HARS2 ENST00000230771.9 28 22 7 0 6 13 67 HARS2:single_exon:E10 0.214286 243 HARS2:exon_block:E6-E10 0.500000 672 HARS2:boundary_CDS_coverage:after_E1 0.892857 1410 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HAX1 ENST00000328703.12 63 47 23 0 16 7 31 HAX1:single_exon:E2 0.365079 263 HAX1:exon_block:E1-E5 0.952381 758 HAX1:boundary_CDS_coverage:after_E1 0.952381 784 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HBA1 ENST00000320868.9 139 108 23 5 16 3 8 HBA1:single_exon:E2 0.431655 205 HBA1:exon_block:E1-E3 0.906475 577 HBA1:boundary_CDS_coverage:after_E1 0.712230 331 repeat_or_mechanism_complex_replacement_case mechanism_complex limitation_panel repeat/noncoding/mechanism-complex biology limits VCF-based interpretation pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HBA2 ENST00000251595.11 176 133 30 11 26 3 8 HBA2:single_exon:E2 0.454545 205 HBA2:exon_block:E1-E3 0.909091 576 HBA2:boundary_CDS_coverage:after_E1 0.755682 331 repeat_or_mechanism_complex_replacement_case mechanism_complex limitation_panel repeat/noncoding/mechanism-complex biology limits VCF-based interpretation pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HBB ENST00000335295.4 428 326 75 20 49 3 8 HBB:single_exon:E2 0.439252 223 HBB:exon_block:E1-E3 0.890187 628 HBB:boundary_CDS_coverage:after_E1 0.728972 349 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HBD ENST00000650601.1 14 5 3 0 2 3 8 HBD:single_exon:E2 0.285714 223 HBD:exon_block:E1-E3 0.500000 620 HBD:boundary_CDS_coverage:after_E1 0.785714 349 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HBG1 ENST00000330597.5 6 0 0 0 0 3 8 HBG1:single_exon:E1 0.000000 145 HBG1:exon_block:E1-E2 0.000000 368 HBG1:boundary_CDS_coverage:after_E2 0.000000 126 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HBG2 ENST00000336906.6 11 6 1 0 0 3 8 HBG2:single_exon:E2 0.454545 223 HBG2:exon_block:E1-E2 0.545455 368 HBG2:boundary_CDS_coverage:after_E1 0.454545 349 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HBQ1 ENST00000199708.3 2 0 0 0 0 3 8 HBQ1:single_exon:E1 0.000000 123 HBQ1:exon_block:E1-E2 0.000000 328 HBQ1:boundary_CDS_coverage:after_E2 0.000000 126 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HCCS ENST00000380762.5 11 10 2 0 0 7 31 HCCS:single_exon:E7 0.363636 1475 HCCS:exon_block:E3-E7 0.818182 1983 HCCS:boundary_CDS_coverage:after_E1 0.909091 804 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HCFC1 ENST00000310441.12 13 11 4 1 1 26 145 HCFC1:single_exon:E24 0.153846 301 HCFC1:exon_block:E1-E4 0.384615 1690 HCFC1:boundary_CDS_coverage:after_E1 0.846154 5912 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HCK ENST00000375852.5 2 2 0 0 0 13 67 HCK:single_exon:E13 1.000000 540 HCK:exon_block:E12-E13 1.000000 672 HCK:boundary_CDS_coverage:after_E12 1.000000 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HCN1 ENST00000303230.6 43 43 3 0 0 8 37 HCN1:single_exon:E4 0.372093 219 HCN1:exon_block:E1-E5 0.930233 1664 HCN1:boundary_CDS_coverage:after_E1 0.953488 2245 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HCN2 ENST00000251287.3 13 12 2 0 0 8 37 HCN2:single_exon:E4 0.230769 219 HCN2:exon_block:E3-E7 0.692308 934 HCN2:boundary_CDS_coverage:after_E1 0.846154 2035 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HCN4 ENST00000261917.4 22 21 2 0 1 8 37 HCN4:single_exon:E4 0.500000 219 HCN4:exon_block:E2-E6 0.818182 1193 HCN4:boundary_CDS_coverage:after_E1 1.000000 2824 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HCRT ENST00000293330.1 1 1 0 0 0 2 4 HCRT:single_exon:E2 1.000000 469 HCRT:exon_block:E1-E2 1.000000 577 HCRT:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HDAC1 ENST00000373548.8 1 1 0 0 0 14 73 HDAC1:single_exon:E5 1.000000 139 HDAC1:exon_block:E4-E5 1.000000 214 HDAC1:boundary_CDS_coverage:after_E4 1.000000 1091 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HDAC3 ENST00000305264.8 2 2 0 0 0 15 79 HDAC3:single_exon:E11 1.000000 90 HDAC3:exon_block:E11-E12 1.000000 149 HDAC3:boundary_CDS_coverage:after_E10 1.000000 454 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HDAC4 ENST00000543185.6 12 11 7 0 1 27 151 HDAC4:single_exon:E8 0.333333 132 HDAC4:exon_block:E4-E8 0.666667 771 HDAC4:boundary_CDS_coverage:after_E3 1.000000 3173 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HDAC6 ENST00000334136.11 3 2 0 1 0 29 163 HDAC6:single_exon:E3 0.333333 129 HDAC6:exon_block:E20-E21 0.333333 203 HDAC6:boundary_CDS_coverage:after_E2 1.000000 3552 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HDAC8 ENST00000373573.9 92 72 37 0 20 11 55 HDAC8:single_exon:E8 0.206522 173 HDAC8:exon_block:E5-E9 0.608696 568 HDAC8:boundary_CDS_coverage:after_E1 0.956522 1020 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HDC ENST00000267845.8 3 1 3 0 2 12 61 HDC:single_exon:E9 0.333333 91 HDC:exon_block:E9-E10 0.666667 190 HDC:boundary_CDS_coverage:after_E1 1.000000 1955 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HEATR3 ENST00000299192.8 5 4 3 0 1 15 79 HEATR3:single_exon:E10 0.200000 83 HEATR3:exon_block:E3-E6 0.600000 452 HEATR3:boundary_CDS_coverage:after_E3 1.000000 1641 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HEATR4 ENST00000553558.6 1 0 0 0 1 18 97 HEATR4:single_exon:E17 0.000000 59 HEATR4:exon_block:E16-E17 0.000000 219 HEATR4:boundary_CDS_coverage:after_E1 1.000000 3078 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HEATR5B ENST00000233099.6 3 1 2 0 2 36 205 HEATR5B:single_exon:E11 0.333333 112 HEATR5B:exon_block:E31-E32 0.666667 412 HEATR5B:boundary_CDS_coverage:after_E10 1.000000 4629 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HECTD1 ENST00000399332.6 3 3 1 0 0 43 247 HECTD1:single_exon:E23 0.666667 167 HECTD1:exon_block:E20-E23 1.000000 766 HECTD1:boundary_CDS_coverage:after_E19 1.000000 4851 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HECTD4 ENST00000682272.1 9 8 1 0 1 76 445 HECTD4:single_exon:E61 0.333333 1307 HECTD4:exon_block:E60-E61 0.333333 1487 HECTD4:boundary_CDS_coverage:after_E12 1.000000 11079 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HECW2 ENST00000644978.2 36 36 5 0 0 29 163 HECW2:single_exon:E20 0.250000 121 HECW2:exon_block:E26-E29 0.444444 7631 HECW2:boundary_CDS_coverage:after_E3 1.000000 4316 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HELLS ENST00000348459.10 20 16 8 0 4 22 121 HELLS:single_exon:E6 0.100000 65 HELLS:exon_block:E14-E18 0.300000 600 HELLS:boundary_CDS_coverage:after_E1 1.000000 2483 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HELZ ENST00000358691.10 1 1 0 0 0 33 187 HELZ:single_exon:E24 1.000000 205 HELZ:exon_block:E24-E25 1.000000 257 HELZ:boundary_CDS_coverage:after_E23 1.000000 2644 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HENMT1 ENST00000651461.1 2 2 0 0 0 8 37 HENMT1:single_exon:E4 0.500000 113 HENMT1:exon_block:E4-E6 1.000000 428 HENMT1:boundary_CDS_coverage:after_E3 1.000000 1029 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HEPACAM ENST00000298251.5 23 21 2 0 2 7 31 HEPACAM:single_exon:E2 0.478261 342 HEPACAM:exon_block:E1-E5 0.913043 918 HEPACAM:boundary_CDS_coverage:after_E1 1.000000 1163 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HEPHL1 ENST00000315765.10 3 3 1 0 0 20 109 HEPHL1:single_exon:E4 0.333333 180 HEPHL1:exon_block:E2-E4 0.666667 638 HEPHL1:boundary_CDS_coverage:after_E1 1.000000 3307 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HERC1 ENST00000443617.7 50 43 11 0 7 78 457 HERC1:single_exon:E38 0.100000 776 HERC1:exon_block:E37-E38 0.180000 1297 HERC1:boundary_CDS_coverage:after_E1 1.000000 14583 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HERC2 ENST00000261609.13 23 18 10 0 5 93 547 HERC2:single_exon:E48 0.086957 99 HERC2:exon_block:E83-E87 0.173913 752 HERC2:boundary_CDS_coverage:after_E5 1.000000 13960 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HERPUD1 ENST00000439977.7 1 1 0 0 0 8 37 HERPUD1:single_exon:E6 1.000000 351 HERPUD1:exon_block:E6-E7 1.000000 457 HERPUD1:boundary_CDS_coverage:after_E5 1.000000 619 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HES7 ENST00000541682.7 7 6 0 0 0 4 13 HES7:single_exon:E2 0.428571 96 HES7:exon_block:E2-E4 0.857143 1630 HES7:boundary_CDS_coverage:after_E1 1.000000 648 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HESX1 ENST00000295934.8 21 18 5 0 3 4 13 HESX1:single_exon:E2 0.571429 200 HESX1:exon_block:E1-E4 1.000000 977 HESX1:boundary_CDS_coverage:after_E1 0.761905 398 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HEXA ENST00000268097.10 331 270 99 0 60 14 73 HEXA:single_exon:E1 0.135952 295 HEXA:exon_block:E5-E9 0.398792 614 HEXA:boundary_CDS_coverage:after_E1 0.867069 1334 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HEXB ENST00000261416.12 219 185 71 0 34 14 73 HEXB:single_exon:E11 0.123288 175 HEXB:exon_block:E7-E11 0.452055 646 HEXB:boundary_CDS_coverage:after_E1 0.894977 1369 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HEY2 ENST00000368364.4 1 1 1 0 0 5 19 HEY2:single_exon:E3 1.000000 84 HEY2:exon_block:E2-E3 1.000000 163 HEY2:boundary_CDS_coverage:after_E2 1.000000 849 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HFE ENST00000357618.10 44 31 17 0 13 6 25 HFE:single_exon:E4 0.318182 276 HFE:exon_block:E1-E5 0.977273 1018 HFE:boundary_CDS_coverage:after_E1 1.000000 968 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HFM1 ENST00000370425.8 16 12 6 0 4 39 223 HFM1:single_exon:E16 0.125000 146 HFM1:exon_block:E14-E18 0.312500 521 HFM1:boundary_CDS_coverage:after_E1 1.000000 4305 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HGD ENST00000283871.10 270 222 95 0 48 14 73 HGD:single_exon:E13 0.144444 182 HGD:exon_block:E9-E13 0.451852 639 HGD:boundary_CDS_coverage:after_E1 0.981481 1320 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HGF ENST00000222390.11 9 6 3 0 3 18 97 HGF:single_exon:E9 0.222222 128 HGF:exon_block:E5-E9 0.333333 686 HGF:boundary_CDS_coverage:after_E4 0.777778 1702 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HGSNAT ENST00000379644.9 188 143 79 0 45 18 97 HGSNAT:single_exon:E13 0.085106 127 HGSNAT:exon_block:E10-E14 0.324468 613 HGSNAT:boundary_CDS_coverage:after_E1 0.936170 1787 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HHAT ENST00000261458.8 8 8 1 0 0 12 61 HHAT:single_exon:E7 0.250000 172 HHAT:exon_block:E3-E7 0.625000 765 HHAT:boundary_CDS_coverage:after_E1 1.000000 1479 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HIBCH ENST00000359678.10 41 30 15 0 11 14 73 HIBCH:single_exon:E7 0.219512 79 HIBCH:exon_block:E7-E11 0.536585 453 HIBCH:boundary_CDS_coverage:after_E1 1.000000 1123 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HID1 ENST00000425042.7 9 8 3 0 1 19 103 HID1:single_exon:E16 0.222222 81 HID1:exon_block:E16-E19 0.444444 1224 HID1:boundary_CDS_coverage:after_E1 1.000000 2298 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HIF1A ENST00000337138.9 6 6 0 0 0 15 79 HIF1A:single_exon:E12 0.500000 434 HIF1A:exon_block:E10-E12 0.666667 844 HIF1A:boundary_CDS_coverage:after_E2 1.000000 2252 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HIKESHI ENST00000278483.8 5 4 1 0 1 5 19 HIKESHI:single_exon:E4 0.400000 119 HIKESHI:exon_block:E2-E4 1.000000 509 HIKESHI:boundary_CDS_coverage:after_E1 1.000000 561 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HINT1 ENST00000304043.10 25 23 6 0 2 3 8 HINT1:single_exon:E3 0.440000 585 HINT1:exon_block:E1-E3 1.000000 852 HINT1:boundary_CDS_coverage:after_E1 0.840000 267 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HIPK4 ENST00000291823.3 1 1 0 0 0 4 13 HIPK4:single_exon:E1 1.000000 744 HIPK4:exon_block:E1-E2 1.000000 1101 HIPK4:boundary_CDS_coverage:after_E3 0.000000 180 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HIVEP2 ENST00000367603.8 74 72 4 0 2 10 49 HIVEP2:single_exon:E5 0.540541 5574 HIVEP2:exon_block:E5-E9 0.918919 6903 HIVEP2:boundary_CDS_coverage:after_E1 1.000000 7338 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HJV ENST00000336751.11 78 71 8 0 7 4 13 HJV:single_exon:E3 0.525641 560 HJV:exon_block:E2-E4 1.000000 1977 HJV:boundary_CDS_coverage:after_E1 1.000000 1278 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HK1 ENST00000359426.7 35 27 5 0 3 18 97 HK1:single_exon:E10 0.200000 305 HK1:exon_block:E6-E10 0.514286 979 HK1:boundary_CDS_coverage:after_E2 0.857143 2525 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HKDC1 ENST00000354624.6 6 6 0 0 0 18 97 HKDC1:single_exon:E3 0.333333 149 HKDC1:exon_block:E2-E3 0.500000 312 HKDC1:boundary_CDS_coverage:after_E1 1.000000 2688 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HLA-A ENST00000376809.10 1 1 0 0 0 8 37 HLA-A:single_exon:E4 1.000000 276 HLA-A:exon_block:E4-E5 1.000000 393 HLA-A:boundary_CDS_coverage:after_E3 1.000000 476 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HLA-B ENST00000412585.7 1 1 0 0 0 8 36 HLA-B:single_exon:E4 1.000000 276 HLA-B:exon_block:E4-E5 1.000000 393 HLA-B:boundary_CDS_coverage:after_E3 1.000000 467 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HLA-DQB1 ENST00000434651.7 1 0 1 0 1 5 19 HLA-DQB1:single_exon:E2 1.000000 270 HLA-DQB1:exon_block:E1-E2 1.000000 429 HLA-DQB1:boundary_CDS_coverage:after_E2 1.000000 404 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HLA-DRB1 ENST00000360004.6 2 1 1 0 1 6 25 HLA-DRB1:single_exon:E5 0.500000 24 HLA-DRB1:exon_block:E2-E5 1.000000 687 HLA-DRB1:boundary_CDS_coverage:after_E1 1.000000 698 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HLCS ENST00000674895.3 194 170 37 0 24 11 55 HLCS:single_exon:E4 0.376289 944 HLCS:exon_block:E4-E8 0.793814 1628 HLCS:boundary_CDS_coverage:after_E2 1.000000 2289 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMBS ENST00000652429.1 176 125 85 0 50 14 73 HMBS:single_exon:E11 0.147727 120 HMBS:exon_block:E9-E13 0.500000 414 HMBS:boundary_CDS_coverage:after_E1 0.988636 1050 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMCN1 ENST00000271588.9 1 1 0 0 0 107 631 HMCN1:single_exon:E27 1.000000 131 HMCN1:exon_block:E27-E28 1.000000 279 HMCN1:boundary_CDS_coverage:after_E26 1.000000 12836 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMGA2 ENST00000403681.7 9 6 5 0 3 5 19 HMGA2:single_exon:E2 0.555556 87 HMGA2:exon_block:E1-E5 1.000000 4117 HMGA2:boundary_CDS_coverage:after_E1 0.666667 216 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMGB1 ENST00000341423.10 6 6 1 0 0 5 19 HMGB1:single_exon:E4 0.333333 175 HMGB1:exon_block:E2-E5 1.000000 5315 HMGB1:boundary_CDS_coverage:after_E1 1.000000 645 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMGCL ENST00000374490.8 103 76 36 1 26 9 43 HMGCL:single_exon:E2 0.174757 84 HMGCL:exon_block:E2-E6 0.611650 501 HMGCL:boundary_CDS_coverage:after_E1 0.970874 915 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMGCR ENST00000287936.9 7 6 2 0 1 20 109 HMGCR:single_exon:E19 0.285714 155 HMGCR:exon_block:E15-E19 0.571429 732 HMGCR:boundary_CDS_coverage:after_E4 1.000000 2299 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMGCS1 ENST00000325110.11 7 7 0 0 0 11 55 HMGCS1:single_exon:E3 0.428571 458 HMGCS1:exon_block:E3-E6 0.714286 915 HMGCS1:boundary_CDS_coverage:after_E1 1.000000 1560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMGCS2 ENST00000369406.8 53 43 12 0 10 10 48 HMGCS2:single_exon:E4 0.207547 165 HMGCS2:exon_block:E2-E6 0.735849 1083 HMGCS2:boundary_CDS_coverage:after_E1 0.943396 1420 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMMR ENST00000393915.9 1 1 0 0 0 18 97 HMMR:single_exon:E17 1.000000 163 HMMR:exon_block:E16-E17 1.000000 340 HMMR:boundary_CDS_coverage:after_E16 1.000000 213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMOX1 ENST00000216117.9 24 20 6 0 4 5 19 HMOX1:single_exon:E3 0.625000 492 HMOX1:exon_block:E1-E4 1.000000 814 HMOX1:boundary_CDS_coverage:after_E1 0.958333 841 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HMX1 ENST00000400677.5 3 3 0 0 0 2 4 HMX1:single_exon:E2 0.666667 1298 HMX1:exon_block:E1-E2 1.000000 1917 HMX1:boundary_CDS_coverage:after_E1 0.666667 650 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNF1A ENST00000257555.11 384 333 79 1 49 10 49 HNF1A:single_exon:E2 0.216146 200 HNF1A:exon_block:E1-E5 0.747396 1333 HNF1A:boundary_CDS_coverage:after_E1 0.822917 1567 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNF1B ENST00000617811.5 273 238 51 0 35 9 43 HNF1B:single_exon:E2 0.296703 200 HNF1B:exon_block:E1-E5 0.864469 1381 HNF1B:boundary_CDS_coverage:after_E1 0.846154 1327 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNF4A ENST00000316673.9 156 125 41 2 23 10 49 HNF4A:single_exon:E8 0.198718 237 HNF4A:exon_block:E4-E8 0.564103 744 HNF4A:boundary_CDS_coverage:after_E1 0.891026 1307 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNMT ENST00000280097.5 2 2 0 0 0 6 25 HNMT:single_exon:E2 0.500000 53 HNMT:exon_block:E2-E6 1.000000 2976 HNMT:boundary_CDS_coverage:after_E1 1.000000 739 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPA1 ENST00000340913.11 21 20 3 0 1 11 54 HNRNPA1:single_exon:E9 0.904762 156 HNRNPA1:exon_block:E9-E10 0.952381 216 HNRNPA1:boundary_CDS_coverage:after_E8 1.000000 209 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPA2B1 ENST00000618183.5 6 6 2 0 0 11 54 HNRNPA2B1:single_exon:E10 0.666667 83 HNRNPA2B1:exon_block:E9-E10 1.000000 206 HNRNPA2B1:boundary_CDS_coverage:after_E8 1.000000 182 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPC ENST00000553300.6 3 3 0 0 0 9 43 HNRNPC:single_exon:E4 0.333333 76 HNRNPC:exon_block:E4-E8 0.666667 557 HNRNPC:boundary_CDS_coverage:after_E3 1.000000 638 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPD ENST00000313899.12 4 4 0 0 0 9 42 HNRNPD:single_exon:E6 0.500000 100 HNRNPD:exon_block:E2-E6 0.750000 620 HNRNPD:boundary_CDS_coverage:after_E1 0.750000 832 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPDL ENST00000295470.10 3 3 0 0 0 8 36 HNRNPDL:single_exon:E6 0.666667 171 HNRNPDL:exon_block:E6-E7 0.666667 264 HNRNPDL:boundary_CDS_coverage:after_E5 0.666667 239 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPH1 ENST00000393432.9 9 9 0 0 0 14 72 HNRNPH1:single_exon:E6 0.444444 179 HNRNPH1:exon_block:E3-E6 0.666667 618 HNRNPH1:boundary_CDS_coverage:after_E2 1.000000 1250 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPH2 ENST00000316594.6 14 13 0 0 0 2 4 HNRNPH2:single_exon:E2 0.928571 2198 HNRNPH2:exon_block:E1-E2 0.928571 2296 HNRNPH2:boundary_CDS_coverage:after_E1 0.928571 1347 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPK ENST00000376263.8 81 59 34 0 22 17 91 HNRNPK:single_exon:E16 0.160494 170 HNRNPK:exon_block:E9-E13 0.518519 690 HNRNPK:boundary_CDS_coverage:after_E3 1.000000 1334 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPR ENST00000302271.11 8 8 0 0 0 11 55 HNRNPR:single_exon:E11 0.750000 6379 HNRNPR:exon_block:E10-E11 0.750000 6501 HNRNPR:boundary_CDS_coverage:after_E3 1.000000 1623 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPU ENST00000640218.2 148 132 28 0 16 14 73 HNRNPU:single_exon:E1 0.324324 927 HNRNPU:exon_block:E1-E5 0.500000 1353 HNRNPU:boundary_CDS_coverage:after_E1 0.675676 1784 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HNRNPUL2 ENST00000301785.7 4 4 1 0 0 14 73 HNRNPUL2:single_exon:E2 0.500000 136 HNRNPUL2:exon_block:E1-E5 1.000000 1283 HNRNPUL2:boundary_CDS_coverage:after_E1 0.750000 1703 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOGA1 ENST00000370646.9 140 119 41 0 21 7 31 HOGA1:single_exon:E6 0.221429 134 HOGA1:exon_block:E3-E7 0.657143 1787 HOGA1:boundary_CDS_coverage:after_E1 0.800000 770 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOMER2 ENST00000450735.7 5 3 0 2 0 9 43 HOMER2:single_exon:E8 0.400000 81 HOMER2:exon_block:E6-E9 1.000000 1270 HOMER2:boundary_CDS_coverage:after_E5 1.000000 535 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOOK3 ENST00000307602.9 1 1 1 0 0 22 121 HOOK3:single_exon:E4 1.000000 51 HOOK3:exon_block:E3-E4 1.000000 124 HOOK3:boundary_CDS_coverage:after_E3 1.000000 1938 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HORMAD1 ENST00000361824.7 1 1 0 0 0 15 79 HORMAD1:single_exon:E13 1.000000 84 HORMAD1:exon_block:E13-E14 1.000000 156 HORMAD1:boundary_CDS_coverage:after_E12 1.000000 234 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXA1 ENST00000643460.2 5 5 0 0 0 2 4 HOXA1:single_exon:E1 0.800000 740 HOXA1:exon_block:E1-E2 1.000000 2543 HOXA1:boundary_CDS_coverage:after_E1 0.200000 353 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXA11 ENST00000006015.4 3 3 0 0 0 2 4 HOXA11:single_exon:E2 1.000000 1872 HOXA11:exon_block:E1-E2 1.000000 2669 HOXA11:boundary_CDS_coverage:after_E1 1.000000 230 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXA13 ENST00000649031.1 12 12 0 0 0 2 4 HOXA13:single_exon:E1 0.833333 936 HOXA13:exon_block:E1-E2 1.000000 5015 HOXA13:boundary_CDS_coverage:after_E1 0.166667 242 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXA2 ENST00000222718.7 7 7 0 0 0 2 4 HOXA2:single_exon:E2 0.571429 1112 HOXA2:exon_block:E1-E2 1.000000 1686 HOXA2:boundary_CDS_coverage:after_E1 0.571429 737 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXA3 ENST00000612286.5 1 1 0 0 0 6 25 HOXA3:single_exon:E6 1.000000 1711 HOXA3:exon_block:E5-E6 1.000000 2357 HOXA3:boundary_CDS_coverage:after_E5 1.000000 803 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXB1 ENST00000239174.7 3 3 0 0 0 2 4 HOXB1:single_exon:E2 0.666667 1350 HOXB1:exon_block:E1-E2 1.000000 2034 HOXB1:boundary_CDS_coverage:after_E1 0.666667 326 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXB13 ENST00000290295.8 2 2 0 0 0 2 4 HOXB13:single_exon:E1 0.500000 758 HOXB13:exon_block:E1-E2 1.000000 3039 HOXB13:boundary_CDS_coverage:after_E1 0.500000 251 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXC13 ENST00000243056.5 4 4 0 0 0 2 4 HOXC13:single_exon:E1 0.750000 812 HOXC13:exon_block:E1-E2 1.000000 2357 HOXC13:boundary_CDS_coverage:after_E1 0.250000 254 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXD10 ENST00000249501.5 1 1 0 0 0 2 4 HOXD10:single_exon:E2 1.000000 984 HOXD10:exon_block:E1-E2 1.000000 1785 HOXD10:boundary_CDS_coverage:after_E1 1.000000 275 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HOXD13 ENST00000392539.4 32 30 2 0 2 2 4 HOXD13:single_exon:E1 0.656250 951 HOXD13:exon_block:E1-E2 1.000000 2416 HOXD13:boundary_CDS_coverage:after_E1 0.375000 248 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPCA ENST00000373467.4 2 2 0 0 0 4 13 HPCA:single_exon:E2 1.000000 399 HPCA:exon_block:E1-E2 1.000000 424 HPCA:boundary_CDS_coverage:after_E1 1.000000 579 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPD ENST00000289004.8 40 32 14 0 8 14 73 HPD:single_exon:E10 0.200000 163 HPD:exon_block:E8-E12 0.475000 540 HPD:boundary_CDS_coverage:after_E1 1.000000 1176 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPDL ENST00000334815.6 48 48 0 0 0 1 1 HPDL:single_exon:E1 1.000000 1816 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPGD ENST00000296522.11 27 18 10 0 9 7 31 HPGD:single_exon:E4 0.259259 97 HPGD:exon_block:E1-E5 0.888889 535 HPGD:boundary_CDS_coverage:after_E1 0.888889 705 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPRT1 ENST00000298556.8 112 88 46 1 22 9 43 HPRT1:single_exon:E3 0.267857 184 HPRT1:exon_block:E2-E6 0.598214 458 HPRT1:boundary_CDS_coverage:after_E1 0.955357 627 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPS1 ENST00000361490.9 194 151 64 0 43 20 109 HPS1:single_exon:E9 0.082474 99 HPS1:exon_block:E9-E13 0.360825 567 HPS1:boundary_CDS_coverage:after_E1 1.000000 2100 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPS3 ENST00000296051.7 280 239 73 0 40 17 91 HPS3:single_exon:E2 0.167857 495 HPS3:exon_block:E1-E5 0.471429 1249 HPS3:boundary_CDS_coverage:after_E1 0.925000 2795 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPS4 ENST00000398145.7 91 67 33 0 24 14 73 HPS4:single_exon:E11 0.307692 910 HPS4:exon_block:E10-E14 0.505495 3772 HPS4:boundary_CDS_coverage:after_E1 1.000000 2124 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPS5 ENST00000349215.8 133 96 51 0 37 23 127 HPS5:single_exon:E16 0.150376 578 HPS5:exon_block:E12-E16 0.330827 1117 HPS5:boundary_CDS_coverage:after_E1 1.000000 3387 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPS6 ENST00000299238.7 99 99 0 0 0 1 1 HPS6:single_exon:E1 1.000000 2688 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HPSE2 ENST00000370552.8 21 14 8 0 7 12 61 HPSE2:single_exon:E8 0.190476 107 HPSE2:exon_block:E1-E5 0.476190 1006 HPSE2:boundary_CDS_coverage:after_E1 0.809524 1486 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HR ENST00000381418.9 33 21 5 9 3 19 103 HR:single_exon:E1 0.272727 583 HR:exon_block:E1-E5 0.363636 2373 HR:boundary_CDS_coverage:after_E2 0.727273 2955 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HRAS ENST00000311189.8 52 50 2 0 2 6 24 HRAS:single_exon:E3 0.500000 179 HRAS:exon_block:E2-E5 0.980769 628 HRAS:boundary_CDS_coverage:after_E1 1.000000 567 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HRG ENST00000232003.5 2 2 1 0 0 7 31 HRG:single_exon:E3 0.500000 91 HRG:exon_block:E2-E3 1.000000 208 HRG:boundary_CDS_coverage:after_E1 1.000000 1392 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HROB ENST00000585683.6 3 3 0 0 0 10 49 HROB:single_exon:E3 0.666667 1170 HROB:exon_block:E3-E5 1.000000 1395 HROB:boundary_CDS_coverage:after_E2 1.000000 1884 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HRURF ENST00000518377.3 9 8 0 1 0 1 1 HRURF:single_exon:E1 1.000000 553 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HS2ST1 ENST00000370550.10 6 6 0 0 0 7 31 HS2ST1:single_exon:E4 0.500000 139 HS2ST1:exon_block:E1-E4 1.000000 990 HS2ST1:boundary_CDS_coverage:after_E1 0.666667 944 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HS3ST6 ENST00000454677.3 1 1 0 0 0 2 4 HS3ST6:single_exon:E2 1.000000 731 HS3ST6:exon_block:E1-E2 1.000000 1236 HS3ST6:boundary_CDS_coverage:after_E1 1.000000 613 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HS6ST2 ENST00000370833.7 1 1 0 0 0 5 19 HS6ST2:single_exon:E2 1.000000 519 HS6ST2:exon_block:E2-E3 1.000000 552 HS6ST2:boundary_CDS_coverage:after_E1 1.000000 1507 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSCB ENST00000216027.8 2 1 0 0 0 6 25 HSCB:single_exon:E2 0.500000 97 HSCB:exon_block:E2-E3 0.500000 187 HSCB:boundary_CDS_coverage:after_E1 0.500000 469 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSD11B1 ENST00000367027.5 2 2 0 0 0 6 25 HSD11B1:single_exon:E5 0.500000 144 HSD11B1:exon_block:E4-E5 1.000000 330 HSD11B1:boundary_CDS_coverage:after_E3 1.000000 545 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSD11B2 ENST00000326152.6 21 19 3 0 2 5 19 HSD11B2:single_exon:E5 0.333333 966 HSD11B2:exon_block:E1-E5 1.000000 1896 HSD11B2:boundary_CDS_coverage:after_E1 0.857143 950 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSD17B10 ENST00000168216.11 17 17 1 0 0 6 25 HSD17B10:single_exon:E6 0.352941 334 HSD17B10:exon_block:E2-E6 1.000000 902 HSD17B10:boundary_CDS_coverage:after_E1 1.000000 756 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSD17B3 ENST00000375263.8 64 48 30 0 16 11 55 HSD17B3:single_exon:E10 0.171875 150 HSD17B3:exon_block:E1-E5 0.515625 525 HSD17B3:boundary_CDS_coverage:after_E1 0.859375 776 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSD17B4 ENST00000510025.7 266 197 117 0 69 24 133 HSD17B4:single_exon:E13 0.075188 237 HSD17B4:exon_block:E7-E11 0.259398 519 HSD17B4:boundary_CDS_coverage:after_E1 0.966165 2150 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSD3B2 ENST00000369416.4 87 79 8 3 5 4 13 HSD3B2:single_exon:E4 0.770115 1226 HSD3B2:exon_block:E2-E4 1.000000 1622 HSD3B2:boundary_CDS_coverage:after_E1 1.000000 1116 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSD3B7 ENST00000297679.10 27 19 9 0 8 7 31 HSD3B7:single_exon:E5 0.185185 100 HSD3B7:exon_block:E3-E7 0.851852 1908 HSD3B7:boundary_CDS_coverage:after_E1 1.000000 1107 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSF2BP ENST00000291560.7 2 2 0 0 0 9 43 HSF2BP:single_exon:E6 0.500000 133 HSF2BP:exon_block:E5-E6 1.000000 283 HSF2BP:boundary_CDS_coverage:after_E4 1.000000 711 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSF4 ENST00000521374.6 21 18 7 0 3 13 67 HSF4:single_exon:E1 0.238095 190 HSF4:exon_block:E1-E5 0.571429 628 HSF4:boundary_CDS_coverage:after_E1 0.761905 1353 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSPA9 ENST00000297185.9 6 4 2 0 2 17 91 HSPA9:single_exon:E4 0.500000 182 HSPA9:exon_block:E4-E8 0.666667 651 HSPA9:boundary_CDS_coverage:after_E3 1.000000 1809 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSPB1 ENST00000248553.7 39 39 2 0 0 3 8 HSPB1:single_exon:E3 0.435897 309 HSPB1:exon_block:E1-E3 1.000000 777 HSPB1:boundary_CDS_coverage:after_E1 0.717949 251 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSPB8 ENST00000281938.7 16 16 4 0 0 3 8 HSPB8:single_exon:E3 0.625000 1048 HSPB8:exon_block:E2-E3 1.000000 1112 HSPB8:boundary_CDS_coverage:after_E1 1.000000 221 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSPD1 ENST00000388968.8 8 8 2 0 0 12 61 HSPD1:single_exon:E3 0.625000 253 HSPD1:exon_block:E2-E3 0.875000 429 HSPD1:boundary_CDS_coverage:after_E1 1.000000 1719 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HSPG2 ENST00000374695.8 116 75 59 0 40 97 571 HSPG2:single_exon:E39 0.034483 87 HSPG2:exon_block:E37-E41 0.112069 556 HSPG2:boundary_CDS_coverage:after_E3 1.000000 12929 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HTR2C ENST00000276198.6 1 1 0 0 0 6 25 HTR2C:single_exon:E6 1.000000 3473 HTR2C:exon_block:E5-E6 1.000000 3674 HTR2C:boundary_CDS_coverage:after_E5 1.000000 824 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HTRA1 ENST00000368984.8 40 34 7 0 6 9 43 HTRA1:single_exon:E4 0.325000 195 HTRA1:exon_block:E1-E5 0.900000 1105 HTRA1:boundary_CDS_coverage:after_E1 0.750000 968 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HTRA2 ENST00000258080.8 17 15 5 0 2 8 37 HTRA2:single_exon:E1 0.411765 580 HTRA2:exon_block:E1-E5 0.764706 1119 HTRA2:boundary_CDS_coverage:after_E1 0.647059 868 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HTT ENST00000355072.11 10 8 2 0 2 67 391 HTT:single_exon:E1 0.400000 408 HTT:exon_block:E1-E2 0.400000 492 HTT:boundary_CDS_coverage:after_E11 0.600000 8024 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HUWE1 ENST00000262854.11 75 70 15 0 5 84 493 HUWE1:single_exon:E79 0.133333 288 HUWE1:exon_block:E79-E83 0.373333 885 HUWE1:boundary_CDS_coverage:after_E5 1.000000 12978 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HYAL1 ENST00000395144.7 53 51 3 0 2 4 13 HYAL1:single_exon:E2 0.905660 924 HYAL1:exon_block:E2-E4 1.000000 1922 HYAL1:boundary_CDS_coverage:after_E1 1.000000 1305 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HYAL2 ENST00000357750.9 11 11 0 0 0 4 13 HYAL2:single_exon:E2 0.727273 967 HYAL2:exon_block:E2-E4 1.000000 1789 HYAL2:boundary_CDS_coverage:after_E1 1.000000 1419 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HYAL3 ENST00000336307.6 1 0 0 0 1 4 13 HYAL3:single_exon:E3 0.000000 90 HYAL3:exon_block:E3-E4 0.000000 774 HYAL3:boundary_CDS_coverage:after_E1 1.000000 1251 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HYCC1 ENST00000432176.7 21 13 10 0 8 11 55 HYCC1:single_exon:E3 0.190476 102 HYCC1:exon_block:E2-E6 0.619048 558 HYCC1:boundary_CDS_coverage:after_E2 1.000000 1512 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HYDIN ENST00000393567.7 66 55 18 0 11 86 505 HYDIN:single_exon:E11 0.045455 119 HYDIN:exon_block:E8-E12 0.151515 829 HYDIN:boundary_CDS_coverage:after_E3 1.000000 15102 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HYKK ENST00000388988.9 1 0 0 0 1 5 19 HYKK:single_exon:E1 0.000000 95 HYKK:exon_block:E3-E4 0.000000 324 HYKK:boundary_CDS_coverage:after_E2 1.000000 782 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HYLS1 ENST00000425380.7 37 21 0 0 16 3 8 HYLS1:single_exon:E3 0.567568 1303 HYLS1:exon_block:E2-E3 0.567568 1353 HYLS1:boundary_CDS_coverage:after_E1 1.000000 897 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true HYOU1 ENST00000617285.5 2 2 0 0 0 26 145 HYOU1:single_exon:E8 0.500000 116 HYOU1:exon_block:E8-E12 1.000000 660 HYOU1:boundary_CDS_coverage:after_E7 1.000000 2319 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IAH1 ENST00000497473.6 12 0 0 0 0 6 25 IAH1:single_exon:E2 0.000000 53 IAH1:exon_block:E1-E2 0.000000 150 IAH1:boundary_CDS_coverage:after_E5 1.000000 180 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IARS1 ENST00000443024.7 37 31 10 0 6 34 193 IARS1:single_exon:E32 0.108108 144 IARS1:exon_block:E28-E32 0.243243 649 IARS1:boundary_CDS_coverage:after_E1 1.000000 3786 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IARS2 ENST00000366922.3 27 24 8 0 3 23 127 IARS2:single_exon:E2 0.185185 123 IARS2:exon_block:E1-E4 0.370370 784 IARS2:boundary_CDS_coverage:after_E1 0.962963 2769 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IBA57 ENST00000366711.4 38 34 8 0 4 3 8 IBA57:single_exon:E1 0.605263 354 IBA57:exon_block:E1-E3 0.973684 7828 IBA57:boundary_CDS_coverage:after_E1 0.473684 727 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ICOS ENST00000316386.11 12 9 3 0 3 5 19 ICOS:single_exon:E2 0.750000 336 ICOS:exon_block:E1-E2 0.916667 446 ICOS:boundary_CDS_coverage:after_E1 0.916667 539 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ICOSLG ENST00000407780.8 2 1 1 0 1 7 31 ICOSLG:single_exon:E2 0.500000 41 ICOSLG:exon_block:E2-E4 1.000000 683 ICOSLG:boundary_CDS_coverage:after_E2 1.000000 851 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IDH1 ENST00000345146.7 6 6 0 0 0 10 49 IDH1:single_exon:E4 0.666667 292 IDH1:exon_block:E4-E8 1.000000 869 IDH1:boundary_CDS_coverage:after_E3 1.000000 1120 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IDH2 ENST00000330062.8 6 6 0 0 0 11 55 IDH2:single_exon:E4 0.666667 161 IDH2:exon_block:E4-E8 0.833333 707 IDH2:boundary_CDS_coverage:after_E3 1.000000 983 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IDH3A ENST00000299518.7 21 13 12 0 8 11 55 IDH3A:single_exon:E2 0.142857 63 IDH3A:exon_block:E5-E9 0.571429 575 IDH3A:boundary_CDS_coverage:after_E1 0.952381 1071 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IDH3B ENST00000380843.9 23 15 13 0 8 12 61 IDH3B:single_exon:E2 0.217391 81 IDH3B:exon_block:E6-E10 0.608696 612 IDH3B:boundary_CDS_coverage:after_E1 1.000000 1119 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IDH3G ENST00000217901.10 2 2 0 0 0 13 67 IDH3G:single_exon:E5 0.500000 113 IDH3G:exon_block:E5-E6 0.500000 174 IDH3G:boundary_CDS_coverage:after_E4 1.000000 946 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IDS ENST00000340855.11 793 723 164 0 70 9 43 IDS:single_exon:E9 0.230769 6231 IDS:exon_block:E5-E9 0.639344 6904 IDS:boundary_CDS_coverage:after_E1 0.969735 1547 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IDUA ENST00000514224.2 419 328 119 6 85 14 73 IDUA:single_exon:E6 0.116945 203 IDUA:exon_block:E5-E9 0.491647 909 IDUA:boundary_CDS_coverage:after_E1 0.923628 1801 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IER3IP1 ENST00000256433.6 1 1 0 0 0 3 8 IER3IP1:single_exon:E3 1.000000 3399 IER3IP1:exon_block:E2-E3 1.000000 3501 IER3IP1:boundary_CDS_coverage:after_E2 1.000000 53 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFIH1 ENST00000649979.2 41 40 3 0 1 16 85 IFIH1:single_exon:E12 0.195122 150 IFIH1:exon_block:E9-E13 0.487805 975 IFIH1:boundary_CDS_coverage:after_E1 0.951220 2622 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFITM5 ENST00000382614.2 3 2 0 1 0 2 4 IFITM5:single_exon:E1 1.000000 222 IFITM5:exon_block:E1-E2 1.000000 736 IFITM5:boundary_CDS_coverage:after_E1 0.000000 210 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFNAR1 ENST00000270139.8 23 17 7 0 6 11 55 IFNAR1:single_exon:E3 0.217391 176 IFNAR1:exon_block:E3-E7 0.565217 788 IFNAR1:boundary_CDS_coverage:after_E1 0.956522 1595 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFNAR2 ENST00000342136.9 13 10 4 0 3 9 43 IFNAR2:single_exon:E4 0.384615 124 IFNAR2:exon_block:E3-E7 1.000000 654 IFNAR2:boundary_CDS_coverage:after_E2 1.000000 1490 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFNG ENST00000229135.4 2 1 1 0 0 4 13 IFNG:single_exon:E3 0.500000 183 IFNG:exon_block:E2-E3 0.500000 252 IFNG:boundary_CDS_coverage:after_E2 0.500000 315 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFNGR1 ENST00000367739.9 36 28 8 0 8 7 31 IFNGR1:single_exon:E3 0.250000 173 IFNGR1:exon_block:E2-E6 0.888889 776 IFNGR1:boundary_CDS_coverage:after_E1 0.944444 1382 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFNGR2 ENST00000290219.11 10 10 0 0 0 7 31 IFNGR2:single_exon:E1 0.300000 204 IFNGR2:exon_block:E1-E5 0.900000 852 IFNGR2:boundary_CDS_coverage:after_E2 0.700000 805 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT122 ENST00000348417.7 91 69 25 1 21 30 169 IFT122:single_exon:E12 0.076923 203 IFT122:exon_block:E10-E14 0.252747 837 IFT122:boundary_CDS_coverage:after_E2 0.956044 3615 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT140 ENST00000426508.7 231 182 73 0 49 31 175 IFT140:single_exon:E4 0.069264 222 IFT140:exon_block:E20-E24 0.242424 742 IFT140:boundary_CDS_coverage:after_E1 1.000000 4386 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT172 ENST00000260570.8 157 115 61 0 42 48 277 IFT172:single_exon:E22 0.063694 249 IFT172:exon_block:E21-E25 0.184713 672 IFT172:boundary_CDS_coverage:after_E1 1.000000 5208 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT27 ENST00000433985.7 14 11 5 0 3 7 31 IFT27:single_exon:E4 0.285714 60 IFT27:exon_block:E2-E6 0.928571 428 IFT27:boundary_CDS_coverage:after_E1 1.000000 524 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT43 ENST00000314067.11 37 16 12 0 21 9 43 IFT43:single_exon:E6 0.216216 73 IFT43:exon_block:E2-E6 0.459459 314 IFT43:boundary_CDS_coverage:after_E1 0.864865 570 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT52 ENST00000373030.8 7 7 2 0 0 14 73 IFT52:single_exon:E7 0.285714 127 IFT52:exon_block:E6-E10 0.857143 510 IFT52:boundary_CDS_coverage:after_E3 1.000000 1104 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT56 ENST00000464848.5 4 2 3 0 2 18 97 IFT56:single_exon:E12 0.250000 64 IFT56:exon_block:E8-E12 0.500000 352 IFT56:boundary_CDS_coverage:after_E1 1.000000 1659 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT57 ENST00000264538.4 2 1 2 0 1 11 55 IFT57:single_exon:E4 0.500000 91 IFT57:exon_block:E4-E6 1.000000 283 IFT57:boundary_CDS_coverage:after_E4 1.000000 702 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT74 ENST00000380062.10 55 40 21 0 15 20 109 IFT74:single_exon:E11 0.127273 144 IFT74:exon_block:E9-E13 0.363636 467 IFT74:boundary_CDS_coverage:after_E1 1.000000 1800 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT80 ENST00000326448.12 64 49 25 0 15 20 109 IFT80:single_exon:E18 0.109375 173 IFT80:exon_block:E6-E10 0.375000 637 IFT80:boundary_CDS_coverage:after_E1 1.000000 2331 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IFT81 ENST00000242591.10 50 38 16 0 12 19 103 IFT81:single_exon:E12 0.140000 150 IFT81:exon_block:E8-E12 0.480000 642 IFT81:boundary_CDS_coverage:after_E1 1.000000 2028 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGBP1 ENST00000356413.5 1 0 0 1 0 7 31 IGBP1:single_exon:E2 1.000000 413 IGBP1:exon_block:E1-E2 1.000000 507 IGBP1:boundary_CDS_coverage:after_E1 1.000000 1017 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGF1 ENST00000337514.11 10 7 4 0 3 4 13 IGF1:single_exon:E2 0.500000 157 IGF1:exon_block:E1-E3 1.000000 584 IGF1:boundary_CDS_coverage:after_E1 0.900000 396 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGF1R ENST00000650285.1 74 66 19 0 8 21 115 IGF1R:single_exon:E2 0.135135 546 IGF1R:exon_block:E16-E20 0.337838 766 IGF1R:boundary_CDS_coverage:after_E1 0.959459 4007 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGF2 ENST00000416167.7 25 20 5 0 5 4 13 IGF2:single_exon:E2 0.680000 163 IGF2:exon_block:E2-E4 1.000000 4419 IGF2:boundary_CDS_coverage:after_E1 1.000000 540 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGF2R ENST00000356956.6 4 4 0 0 0 48 277 IGF2R:single_exon:E31 0.500000 191 IGF2R:exon_block:E31-E32 0.500000 318 IGF2R:boundary_CDS_coverage:after_E3 0.750000 7059 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGFALS ENST00000215539.4 11 11 0 0 0 2 4 IGFALS:single_exon:E2 0.909091 1989 IGFALS:exon_block:E1-E2 1.000000 2058 IGFALS:boundary_CDS_coverage:after_E1 0.909091 1799 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGFBP4 ENST00000269593.5 1 1 0 0 0 4 13 IGFBP4:single_exon:E4 1.000000 1277 IGFBP4:exon_block:E3-E4 1.000000 1412 IGFBP4:boundary_CDS_coverage:after_E3 1.000000 132 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGFBP7 ENST00000295666.6 2 1 2 0 1 5 19 IGFBP7:single_exon:E4 0.500000 127 IGFBP7:exon_block:E4-E5 1.000000 691 IGFBP7:boundary_CDS_coverage:after_E4 1.000000 17 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGHMBP2 ENST00000255078.8 167 137 40 0 30 15 79 IGHMBP2:single_exon:E13 0.203593 855 IGHMBP2:exon_block:E9-E13 0.425150 1376 IGHMBP2:boundary_CDS_coverage:after_E1 0.982036 2893 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGSF1 ENST00000361420.8 26 24 5 0 2 20 109 IGSF1:single_exon:E13 0.230769 279 IGSF1:exon_block:E12-E16 0.576923 1434 IGSF1:boundary_CDS_coverage:after_E2 1.000000 3938 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IGSF3 ENST00000369486.8 3 3 0 0 0 11 55 IGSF3:single_exon:E10 0.666667 486 IGSF3:exon_block:E7-E10 1.000000 1710 IGSF3:boundary_CDS_coverage:after_E6 1.000000 1958 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IHH ENST00000295731.7 48 46 5 0 2 3 8 IHH:single_exon:E2 0.520833 262 IHH:exon_block:E1-E3 1.000000 2473 IHH:boundary_CDS_coverage:after_E1 0.625000 918 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IKBKB ENST00000520810.6 32 24 13 0 8 22 121 IKBKB:single_exon:E17 0.125000 50 IKBKB:exon_block:E13-E17 0.375000 498 IKBKB:boundary_CDS_coverage:after_E1 1.000000 2268 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IKBKG ENST00000594239.6 79 48 23 3 19 10 49 IKBKG:single_exon:E10 0.151899 715 IKBKG:exon_block:E2-E6 0.468354 783 IKBKG:boundary_CDS_coverage:after_E1 0.886076 1257 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IKZF1 ENST00000331340.8 24 22 4 0 2 8 37 IKZF1:single_exon:E5 0.500000 168 IKZF1:exon_block:E4-E8 0.958333 5874 IKZF1:boundary_CDS_coverage:after_E1 1.000000 1557 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IKZF3 ENST00000346872.8 2 1 1 0 1 8 37 IKZF3:single_exon:E5 0.500000 168 IKZF3:exon_block:E1-E5 1.000000 778 IKZF3:boundary_CDS_coverage:after_E1 1.000000 1520 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IKZF5 ENST00000368886.10 7 7 0 0 0 5 19 IKZF5:single_exon:E5 0.714286 3917 IKZF5:exon_block:E4-E5 1.000000 4100 IKZF5:boundary_CDS_coverage:after_E3 1.000000 1124 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL10 ENST00000423557.1 2 0 0 0 0 5 19 IL10:single_exon:E2 0.000000 60 IL10:exon_block:E2-E3 0.000000 213 IL10:boundary_CDS_coverage:after_E4 0.000000 90 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL10RA ENST00000227752.8 23 20 2 1 1 7 31 IL10RA:single_exon:E4 0.304348 170 IL10RA:exon_block:E2-E6 0.869565 743 IL10RA:boundary_CDS_coverage:after_E1 0.869565 1667 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL10RB ENST00000290200.7 19 11 10 0 8 7 31 IL10RB:single_exon:E2 0.263158 124 IL10RB:exon_block:E1-E5 0.842105 745 IL10RB:boundary_CDS_coverage:after_E1 0.947368 926 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL11RA ENST00000441545.7 22 17 9 0 5 13 67 IL11RA:single_exon:E9 0.318182 142 IL11RA:exon_block:E5-E9 0.681818 621 IL11RA:boundary_CDS_coverage:after_E1 1.000000 1266 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL12B ENST00000231228.3 17 14 4 0 3 8 36 IL12B:single_exon:E3 0.411765 276 IL12B:exon_block:E3-E7 0.941176 899 IL12B:boundary_CDS_coverage:after_E1 1.000000 984 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL12RB1 ENST00000593993.7 73 55 24 2 16 17 91 IL12RB1:single_exon:E9 0.150685 238 IL12RB1:exon_block:E9-E13 0.410959 835 IL12RB1:boundary_CDS_coverage:after_E1 0.972603 1922 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL17RA ENST00000319363.11 27 22 8 0 5 13 67 IL17RA:single_exon:E3 0.370370 147 IL17RA:exon_block:E3-E7 0.592593 599 IL17RA:boundary_CDS_coverage:after_E2 0.925926 2435 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL17RC ENST00000403601.8 6 4 2 0 2 19 103 IL17RC:single_exon:E11 0.500000 182 IL17RC:exon_block:E9-E11 0.666667 297 IL17RC:boundary_CDS_coverage:after_E2 1.000000 2033 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL17RD ENST00000296318.12 5 5 1 0 0 13 67 IL17RD:single_exon:E12 0.600000 943 IL17RD:exon_block:E11-E12 0.600000 1128 IL17RD:boundary_CDS_coverage:after_E6 1.000000 1622 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL19 ENST00000659997.3 2 0 0 0 2 7 31 IL19:single_exon:E4 0.000000 66 IL19:exon_block:E3-E4 0.000000 212 IL19:boundary_CDS_coverage:after_E1 1.000000 531 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL1R1 ENST00000410023.6 1 1 0 0 0 12 61 IL1R1:single_exon:E5 1.000000 190 IL1R1:exon_block:E5-E6 1.000000 359 IL1R1:boundary_CDS_coverage:after_E4 1.000000 1411 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL1RAPL1 ENST00000378993.6 28 25 8 0 3 11 55 IL1RAPL1:single_exon:E11 0.214286 1617 IL1RAPL1:exon_block:E7-E11 0.642857 2211 IL1RAPL1:boundary_CDS_coverage:after_E2 1.000000 2006 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL1RN ENST00000409930.4 13 9 1 0 1 4 13 IL1RN:single_exon:E2 0.307692 89 IL1RN:exon_block:E1-E3 0.692308 345 IL1RN:boundary_CDS_coverage:after_E1 0.538462 415 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL2 ENST00000226730.5 2 2 0 0 0 4 13 IL2:single_exon:E4 0.500000 393 IL2:exon_block:E1-E4 1.000000 1029 IL2:boundary_CDS_coverage:after_E3 0.500000 108 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL21 ENST00000648588.1 1 1 0 0 0 5 19 IL21:single_exon:E1 1.000000 223 IL21:exon_block:E1-E2 1.000000 259 IL21:boundary_CDS_coverage:after_E4 0.000000 48 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL21R ENST00000337929.8 11 8 4 0 3 9 43 IL21R:single_exon:E5 0.272727 155 IL21R:exon_block:E4-E8 0.818182 715 IL21R:boundary_CDS_coverage:after_E1 1.000000 1614 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL2RA ENST00000379959.8 15 9 7 0 6 8 37 IL2RA:single_exon:E2 0.466667 192 IL2RA:exon_block:E2-E6 0.933333 663 IL2RA:boundary_CDS_coverage:after_E1 1.000000 752 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL2RB ENST00000216223.10 14 9 8 0 5 10 49 IL2RB:single_exon:E4 0.214286 79 IL2RB:exon_block:E3-E7 0.785714 615 IL2RB:boundary_CDS_coverage:after_E2 1.000000 1565 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL2RG ENST00000374202.7 165 141 43 0 24 8 37 IL2RG:single_exon:E5 0.200000 163 IL2RG:exon_block:E1-E5 0.812121 795 IL2RG:boundary_CDS_coverage:after_E1 0.933333 992 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL31RA ENST00000652347.2 1 1 0 0 0 15 79 IL31RA:single_exon:E12 1.000000 141 IL31RA:exon_block:E12-E13 1.000000 235 IL31RA:boundary_CDS_coverage:after_E11 1.000000 791 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL36RN ENST00000393200.7 13 9 4 0 4 5 19 IL36RN:single_exon:E3 0.384615 86 IL36RN:exon_block:E2-E5 1.000000 2562 IL36RN:boundary_CDS_coverage:after_E1 1.000000 465 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL37 ENST00000263326.8 1 1 0 0 0 6 25 IL37:single_exon:E6 1.000000 322 IL37:exon_block:E5-E6 1.000000 465 IL37:boundary_CDS_coverage:after_E5 1.000000 246 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL4I1 ENST00000391826.7 1 0 0 0 0 8 37 IL4I1:single_exon:E2 0.000000 35 IL4I1:exon_block:E1-E2 0.000000 88 IL4I1:boundary_CDS_coverage:after_E7 0.000000 928 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL6R ENST00000368485.8 1 1 0 0 0 10 49 IL6R:single_exon:E4 1.000000 182 IL6R:exon_block:E3-E4 1.000000 306 IL6R:boundary_CDS_coverage:after_E3 1.000000 946 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL6ST ENST00000381298.7 24 19 7 0 4 17 91 IL6ST:single_exon:E17 0.250000 6725 IL6ST:exon_block:E13-E17 0.500000 7192 IL6ST:boundary_CDS_coverage:after_E5 1.000000 2263 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL7 ENST00000263851.9 3 3 1 0 0 6 25 IL7:single_exon:E3 0.333333 81 IL7:exon_block:E1-E4 1.000000 901 IL7:boundary_CDS_coverage:after_E2 0.666667 384 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IL7R ENST00000303115.8 62 50 19 0 12 8 37 IL7R:single_exon:E5 0.274194 169 IL7R:exon_block:E1-E5 0.887097 793 IL7R:boundary_CDS_coverage:after_E1 0.919355 1295 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ILDR1 ENST00000344209.10 35 35 5 0 0 8 37 ILDR1:single_exon:E7 0.371429 821 ILDR1:exon_block:E3-E7 0.828571 1370 ILDR1:boundary_CDS_coverage:after_E1 0.885714 1580 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ILDR2 ENST00000271417.8 1 1 0 0 0 10 49 ILDR2:single_exon:E8 1.000000 217 ILDR2:exon_block:E7-E8 1.000000 331 ILDR2:boundary_CDS_coverage:after_E7 1.000000 923 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IMPA1 ENST00000256108.10 2 2 0 0 0 9 43 IMPA1:single_exon:E7 0.500000 109 IMPA1:exon_block:E7-E9 1.000000 2814 IMPA1:boundary_CDS_coverage:after_E6 1.000000 374 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IMPDH1 ENST00000338791.11 37 32 9 0 5 17 91 IMPDH1:single_exon:E10 0.324324 200 IMPDH1:exon_block:E9-E13 0.594595 619 IMPDH1:boundary_CDS_coverage:after_E1 0.918919 1651 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IMPDH2 ENST00000326739.9 4 4 2 0 0 14 73 IMPDH2:single_exon:E6 0.250000 88 IMPDH2:exon_block:E5-E7 0.750000 495 IMPDH2:boundary_CDS_coverage:after_E4 0.750000 1218 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IMPG1 ENST00000369950.8 68 51 23 0 17 17 91 IMPG1:single_exon:E13 0.279412 533 IMPG1:exon_block:E10-E14 0.470588 1157 IMPG1:boundary_CDS_coverage:after_E1 0.970588 2324 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IMPG2 ENST00000193391.8 141 112 39 0 29 19 103 IMPG2:single_exon:E13 0.234043 1259 IMPG2:exon_block:E11-E15 0.503546 2080 IMPG2:boundary_CDS_coverage:after_E1 0.985816 3638 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INA ENST00000369849.9 1 1 0 0 0 3 8 INA:single_exon:E1 1.000000 1139 INA:exon_block:E1-E2 1.000000 1264 INA:boundary_CDS_coverage:after_E2 0.000000 307 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INCENP ENST00000394818.8 1 1 0 0 0 19 103 INCENP:single_exon:E18 1.000000 151 INCENP:exon_block:E17-E18 1.000000 259 INCENP:boundary_CDS_coverage:after_E17 1.000000 363 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INF2 ENST00000392634.9 57 56 6 0 1 23 126 INF2:single_exon:E2 0.508772 400 INF2:exon_block:E2-E5 0.982456 710 INF2:boundary_CDS_coverage:after_E1 1.000000 3747 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ING1 ENST00000333219.9 3 3 0 0 0 2 4 ING1:single_exon:E2 1.000000 4111 ING1:exon_block:E1-E2 1.000000 4697 ING1:boundary_CDS_coverage:after_E1 1.000000 701 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INO80 ENST00000648947.1 2 2 1 0 0 36 205 INO80:single_exon:E31 0.500000 103 INO80:exon_block:E31-E32 0.500000 192 INO80:boundary_CDS_coverage:after_E11 1.000000 3273 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INPP4A ENST00000409851.8 8 6 3 0 2 25 139 INPP4A:single_exon:E3 0.250000 209 INPP4A:exon_block:E3-E6 0.500000 490 INPP4A:boundary_CDS_coverage:after_E1 1.000000 2916 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INPP4B ENST00000262992.9 2 2 1 0 0 26 145 INPP4B:single_exon:E20 0.500000 124 INPP4B:exon_block:E20-E22 1.000000 383 INPP4B:boundary_CDS_coverage:after_E19 1.000000 879 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INPP5B ENST00000373024.8 1 1 1 0 0 24 133 INPP5B:single_exon:E3 1.000000 95 INPP5B:exon_block:E2-E3 1.000000 178 INPP5B:boundary_CDS_coverage:after_E3 1.000000 2587 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INPP5E ENST00000371712.4 79 76 11 0 3 10 49 INPP5E:single_exon:E1 0.215190 1238 INPP5E:exon_block:E6-E10 0.531646 1712 INPP5E:boundary_CDS_coverage:after_E1 0.797468 1120 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INPP5F ENST00000650623.2 1 1 0 0 0 20 109 INPP5F:single_exon:E10 1.000000 125 INPP5F:exon_block:E9-E10 1.000000 193 INPP5F:boundary_CDS_coverage:after_E9 1.000000 2280 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INPP5K ENST00000421807.7 11 11 0 0 0 12 61 INPP5K:single_exon:E8 0.272727 187 INPP5K:exon_block:E4-E8 0.636364 702 INPP5K:boundary_CDS_coverage:after_E1 1.000000 1300 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INPPL1 ENST00000298229.7 40 33 11 0 7 28 157 INPPL1:single_exon:E26 0.200000 673 INPPL1:exon_block:E23-E27 0.325000 1183 INPPL1:boundary_CDS_coverage:after_E1 0.925000 3592 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INS ENST00000381330.5 29 26 0 1 0 3 8 INS:single_exon:E2 0.551724 204 INS:exon_block:E2-E3 0.931034 423 INS:boundary_CDS_coverage:after_E1 0.931034 330 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INSL3 ENST00000317306.8 7 7 1 0 0 2 4 INSL3:single_exon:E2 0.571429 548 INSL3:exon_block:E1-E2 1.000000 751 INSL3:boundary_CDS_coverage:after_E1 0.571429 203 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INSL6 ENST00000381641.4 8 0 0 0 0 2 4 INSL6:single_exon:E1 0.000000 326 INSL6:exon_block:E1-E2 0.000000 724 INSL6:boundary_CDS_coverage:after_E1 1.000000 350 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INSR ENST00000302850.10 68 63 8 0 5 22 121 INSR:single_exon:E2 0.220588 552 INSR:exon_block:E2-E6 0.426471 1383 INSR:boundary_CDS_coverage:after_E1 0.970588 4046 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INTS1 ENST00000404767.8 23 18 6 0 5 48 277 INTS1:single_exon:E12 0.086957 109 INTS1:exon_block:E38-E42 0.260870 806 INTS1:boundary_CDS_coverage:after_E1 1.000000 6570 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INTS11 ENST00000435064.6 6 6 0 0 0 17 91 INTS11:single_exon:E16 0.333333 130 INTS11:exon_block:E12-E16 0.666667 606 INTS11:boundary_CDS_coverage:after_E1 1.000000 1772 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INTS6 ENST00000311234.9 1 1 0 0 0 18 97 INTS6:single_exon:E6 1.000000 126 INTS6:exon_block:E6-E7 1.000000 281 INTS6:boundary_CDS_coverage:after_E5 1.000000 2048 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INTS8 ENST00000523731.6 3 3 0 0 0 27 151 INTS8:single_exon:E9 0.333333 101 INTS8:exon_block:E8-E9 0.666667 257 INTS8:boundary_CDS_coverage:after_E7 1.000000 2124 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INTU ENST00000335251.11 6 6 1 0 0 16 85 INTU:single_exon:E2 0.333333 536 INTU:exon_block:E5-E9 0.500000 531 INTU:boundary_CDS_coverage:after_E1 1.000000 2680 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true INVS ENST00000262457.7 122 104 25 0 18 17 91 INVS:single_exon:E14 0.237705 718 INVS:exon_block:E10-E14 0.524590 1552 INVS:boundary_CDS_coverage:after_E1 1.000000 3195 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IPO8 ENST00000256079.9 27 21 11 0 6 25 139 IPO8:single_exon:E22 0.185185 206 IPO8:exon_block:E19-E22 0.370370 621 IPO8:boundary_CDS_coverage:after_E1 0.962963 3027 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IQCB1 ENST00000310864.11 94 73 34 0 21 15 79 IQCB1:single_exon:E14 0.127660 157 IQCB1:exon_block:E7-E11 0.457447 642 IQCB1:boundary_CDS_coverage:after_E3 1.000000 1694 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IQCE ENST00000402050.7 9 6 4 0 3 22 121 IQCE:single_exon:E17 0.222222 168 IQCE:exon_block:E14-E18 0.555556 588 IQCE:boundary_CDS_coverage:after_E4 0.888889 1826 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IQCN ENST00000392413.5 2 2 0 0 0 4 13 IQCN:single_exon:E3 1.000000 3164 IQCN:exon_block:E2-E3 1.000000 3286 IQCN:boundary_CDS_coverage:after_E2 1.000000 4088 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IQGAP3 ENST00000361170.7 1 0 1 0 1 38 217 IQGAP3:single_exon:E27 1.000000 141 IQGAP3:exon_block:E27-E28 1.000000 226 IQGAP3:boundary_CDS_coverage:after_E27 1.000000 1471 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IQSEC1 ENST00000613206.2 3 3 0 0 0 14 73 IQSEC1:single_exon:E3 1.000000 1250 IQSEC1:exon_block:E3-E4 1.000000 1412 IQSEC1:boundary_CDS_coverage:after_E2 1.000000 3024 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IQSEC2 ENST00000642864.1 222 191 37 1 30 15 79 IQSEC2:single_exon:E5 0.216216 896 IQSEC2:exon_block:E3-E7 0.450450 1845 IQSEC2:boundary_CDS_coverage:after_E1 0.932432 3757 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRAK1BP1 ENST00000369940.7 62 0 0 0 0 4 13 IRAK1BP1:single_exon:E2 0.000000 66 IRAK1BP1:exon_block:E2-E3 0.000000 197 IRAK1BP1:boundary_CDS_coverage:after_E3 1.000000 268 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRAK3 ENST00000261233.9 2 2 1 0 0 12 61 IRAK3:single_exon:E10 0.500000 63 IRAK3:exon_block:E10-E11 1.000000 228 IRAK3:boundary_CDS_coverage:after_E9 1.000000 702 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRAK4 ENST00000613694.5 34 27 7 0 7 12 61 IRAK4:single_exon:E5 0.205882 161 IRAK4:exon_block:E3-E7 0.588235 670 IRAK4:boundary_CDS_coverage:after_E1 1.000000 1380 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IREB2 ENST00000258886.13 2 2 0 0 0 22 121 IREB2:single_exon:E10 0.500000 101 IREB2:exon_block:E9-E10 1.000000 273 IREB2:boundary_CDS_coverage:after_E8 1.000000 1866 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRF1 ENST00000245414.9 4 4 0 0 0 10 49 IRF1:single_exon:E2 0.500000 92 IRF1:exon_block:E2-E5 1.000000 419 IRF1:boundary_CDS_coverage:after_E1 1.000000 975 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRF2BP2 ENST00000366609.4 3 3 0 0 0 2 4 IRF2BP2:single_exon:E1 0.666667 1732 IRF2BP2:exon_block:E1-E2 1.000000 5316 IRF2BP2:boundary_CDS_coverage:after_E1 0.333333 713 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRF2BPL ENST00000238647.5 96 96 0 0 0 1 1 IRF2BPL:single_exon:E1 1.000000 4166 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRF4 ENST00000380956.9 3 3 0 0 0 9 43 IRF4:single_exon:E3 0.666667 187 IRF4:exon_block:E3-E7 1.000000 883 IRF4:boundary_CDS_coverage:after_E2 1.000000 1137 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRF5 ENST00000357234.10 1 1 1 0 0 9 43 IRF5:single_exon:E6 1.000000 306 IRF5:exon_block:E5-E6 1.000000 340 IRF5:boundary_CDS_coverage:after_E5 1.000000 1061 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRF6 ENST00000367021.8 123 114 24 1 8 9 43 IRF6:single_exon:E4 0.276423 205 IRF6:exon_block:E3-E7 0.796748 1063 IRF6:boundary_CDS_coverage:after_E1 0.991870 1401 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRF8 ENST00000268638.10 3 3 0 0 0 9 43 IRF8:single_exon:E3 0.666667 184 IRF8:exon_block:E3-E7 1.000000 814 IRF8:boundary_CDS_coverage:after_E2 1.000000 1104 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRS1 ENST00000305123.6 2 2 0 0 0 2 3 IRS1:single_exon:E1 1.000000 4832 IRS1:exon_block:E1-E2 1.000000 9771 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRS4 ENST00000372129.4 4 4 0 0 0 2 4 IRS4:single_exon:E1 1.000000 3985 IRS4:exon_block:E1-E2 1.000000 6563 IRS4:boundary_CDS_coverage:after_E1 0.000000 2 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRX4 ENST00000231357.7 3 3 0 0 0 5 19 IRX4:single_exon:E2 0.666667 252 IRX4:exon_block:E2-E4 1.000000 691 IRX4:boundary_CDS_coverage:after_E1 1.000000 1512 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IRX5 ENST00000394636.9 4 4 0 0 0 3 8 IRX5:single_exon:E2 0.750000 406 IRX5:exon_block:E2-E3 1.000000 1815 IRX5:boundary_CDS_coverage:after_E1 1.000000 1200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ISCA1 ENST00000375991.9 1 1 0 0 0 4 13 ISCA1:single_exon:E1 1.000000 161 ISCA1:exon_block:E1-E2 1.000000 215 ISCA1:boundary_CDS_coverage:after_E3 0.000000 146 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ISCA2 ENST00000556816.6 4 4 0 0 0 4 13 ISCA2:single_exon:E2 0.500000 103 ISCA2:exon_block:E2-E4 1.000000 2500 ISCA2:boundary_CDS_coverage:after_E1 1.000000 391 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ISCU ENST00000311893.14 2 1 0 0 1 5 19 ISCU:single_exon:E2 0.500000 114 ISCU:exon_block:E2-E3 0.500000 225 ISCU:boundary_CDS_coverage:after_E1 1.000000 387 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ISG15 ENST00000649529.1 4 3 1 0 1 2 4 ISG15:single_exon:E2 1.000000 557 ISG15:exon_block:E1-E2 1.000000 637 ISG15:boundary_CDS_coverage:after_E1 1.000000 492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ISLR2 ENST00000453268.3 1 1 0 0 0 3 8 ISLR2:single_exon:E3 1.000000 4056 ISLR2:exon_block:E2-E3 1.000000 4166 ISLR2:boundary_CDS_coverage:after_E1 1.000000 2235 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITCH ENST00000374864.10 20 17 7 0 3 25 139 ITCH:single_exon:E6 0.150000 138 ITCH:exon_block:E18-E22 0.450000 661 ITCH:boundary_CDS_coverage:after_E1 1.000000 2586 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITFG2 ENST00000228799.7 1 0 1 0 1 12 61 ITFG2:single_exon:E9 1.000000 101 ITFG2:exon_block:E8-E9 1.000000 155 ITFG2:boundary_CDS_coverage:after_E8 1.000000 494 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGA2B ENST00000262407.6 255 212 83 1 42 30 169 ITGA2B:single_exon:E4 0.105882 166 ITGA2B:exon_block:E1-E5 0.235294 800 ITGA2B:boundary_CDS_coverage:after_E1 0.964706 2929 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGA3 ENST00000320031.13 29 21 12 0 8 26 144 ITGA3:single_exon:E21 0.172414 123 ITGA3:exon_block:E17-E21 0.310345 567 ITGA3:boundary_CDS_coverage:after_E1 1.000000 2947 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGA4 ENST00000397033.7 7 0 0 7 0 28 157 ITGA4:single_exon:E28 1.000000 3509 ITGA4:exon_block:E27-E28 1.000000 3629 ITGA4:boundary_CDS_coverage:after_E27 1.000000 93 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGA6 ENST00000684293.1 54 43 21 1 10 26 144 ITGA6:single_exon:E3 0.092593 80 ITGA6:exon_block:E2-E6 0.351852 804 ITGA6:boundary_CDS_coverage:after_E1 0.962963 3037 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGA7 ENST00000257879.11 62 50 18 0 12 25 139 ITGA7:single_exon:E1 0.129032 428 ITGA7:exon_block:E1-E5 0.322581 1012 ITGA7:boundary_CDS_coverage:after_E1 0.887097 3205 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGA8 ENST00000378076.4 21 16 6 0 5 30 169 ITGA8:single_exon:E3 0.095238 101 ITGA8:exon_block:E17-E21 0.285714 602 ITGA8:boundary_CDS_coverage:after_E2 0.952381 2846 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGAV ENST00000261023.8 5 3 3 0 2 30 169 ITGAV:single_exon:E10 0.200000 57 ITGAV:exon_block:E10-E12 0.400000 313 ITGAV:boundary_CDS_coverage:after_E3 1.000000 2736 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGB2 ENST00000652462.1 84 71 20 0 13 16 85 ITGB2:single_exon:E6 0.130952 242 ITGB2:exon_block:E3-E7 0.476190 839 ITGB2:boundary_CDS_coverage:after_E1 1.000000 2307 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGB3 ENST00000559488.7 189 160 45 0 29 15 79 ITGB3:single_exon:E10 0.174603 430 ITGB3:exon_block:E2-E6 0.439153 860 ITGB3:boundary_CDS_coverage:after_E1 0.978836 2285 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGB4 ENST00000200181.8 160 127 52 0 33 40 229 ITGB4:single_exon:E30 0.056250 138 ITGB4:exon_block:E4-E8 0.218750 840 ITGB4:boundary_CDS_coverage:after_E1 1.000000 5466 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITGB6 ENST00000283249.7 8 7 2 0 1 15 79 ITGB6:single_exon:E6 0.250000 162 ITGB6:exon_block:E4-E6 0.750000 575 ITGB6:boundary_CDS_coverage:after_E3 1.000000 2018 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITIH6 ENST00000218436.7 1 1 0 0 0 13 67 ITIH6:single_exon:E8 1.000000 2034 ITIH6:exon_block:E8-E9 1.000000 2127 ITIH6:boundary_CDS_coverage:after_E7 1.000000 2864 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITK ENST00000422843.8 21 19 3 0 2 17 91 ITK:single_exon:E10 0.238095 134 ITK:exon_block:E8-E12 0.428571 519 ITK:boundary_CDS_coverage:after_E1 0.857143 1722 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITM2B ENST00000647800.2 4 2 0 2 0 6 25 ITM2B:single_exon:E6 1.000000 9219 ITM2B:exon_block:E5-E6 1.000000 9370 ITM2B:boundary_CDS_coverage:after_E5 1.000000 83 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITPA ENST00000380113.8 36 24 19 0 12 8 37 ITPA:single_exon:E6 0.222222 116 ITPA:exon_block:E2-E6 0.777778 345 ITPA:boundary_CDS_coverage:after_E1 0.916667 516 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITPR1 ENST00000649015.2 85 73 15 0 12 62 361 ITPR1:single_exon:E10 0.129412 147 ITPR1:exon_block:E15-E19 0.247059 755 ITPR1:boundary_CDS_coverage:after_E3 1.000000 8182 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITPR2 ENST00000381340.8 2 2 1 0 0 57 331 ITPR2:single_exon:E52 0.500000 93 ITPR2:exon_block:E52-E53 1.000000 224 ITPR2:boundary_CDS_coverage:after_E51 1.000000 797 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITPR3 ENST00000605930.3 6 5 1 0 1 58 337 ITPR3:single_exon:E55 0.333333 166 ITPR3:exon_block:E54-E55 0.333333 294 ITPR3:boundary_CDS_coverage:after_E5 1.000000 7485 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ITSN1 ENST00000381318.8 24 22 5 0 2 40 229 ITSN1:single_exon:E25 0.125000 167 ITSN1:exon_block:E9-E13 0.333333 731 ITSN1:boundary_CDS_coverage:after_E5 1.000000 4817 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IVD ENST00000487418.8 172 133 66 0 39 12 61 IVD:single_exon:E4 0.122093 170 IVD:exon_block:E2-E6 0.459302 543 IVD:boundary_CDS_coverage:after_E1 0.930233 1125 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IVNS1ABP ENST00000367498.8 2 2 0 0 0 15 79 IVNS1ABP:single_exon:E10 0.500000 225 IVNS1ABP:exon_block:E10-E11 0.500000 347 IVNS1ABP:boundary_CDS_coverage:after_E9 1.000000 1031 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true IYD ENST00000344419.8 8 8 1 0 0 5 19 IYD:single_exon:E2 0.375000 192 IYD:exon_block:E2-E5 1.000000 8424 IYD:boundary_CDS_coverage:after_E1 1.000000 689 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAG1 ENST00000254958.10 461 401 123 0 60 26 145 JAG1:single_exon:E2 0.101952 306 JAG1:exon_block:E2-E6 0.264642 805 JAG1:boundary_CDS_coverage:after_E1 0.960954 3573 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAG2 ENST00000331782.8 5 5 0 0 0 26 145 JAG2:single_exon:E9 0.200000 114 JAG2:exon_block:E2-E6 0.600000 853 JAG2:boundary_CDS_coverage:after_E1 1.000000 3648 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAGN1 ENST00000647897.1 4 4 0 0 0 2 4 JAGN1:single_exon:E2 1.000000 1435 JAGN1:exon_block:E1-E2 1.000000 1637 JAGN1:boundary_CDS_coverage:after_E1 1.000000 460 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAK1 ENST00000342505.5 4 4 2 0 0 25 139 JAK1:single_exon:E14 0.250000 88 JAK1:exon_block:E13-E17 1.000000 648 JAK1:boundary_CDS_coverage:after_E12 1.000000 1707 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAK2 ENST00000381652.4 8 7 2 0 1 25 139 JAK2:single_exon:E14 0.375000 88 JAK2:exon_block:E12-E14 0.500000 351 JAK2:boundary_CDS_coverage:after_E3 1.000000 3170 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAK3 ENST00000458235.7 137 109 48 0 28 24 133 JAK3:single_exon:E17 0.080292 151 JAK3:exon_block:E9-E13 0.277372 644 JAK3:boundary_CDS_coverage:after_E1 1.000000 3372 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAKMIP1 ENST00000409021.9 1 1 0 0 0 21 115 JAKMIP1:single_exon:E13 1.000000 99 JAKMIP1:exon_block:E12-E13 1.000000 162 JAKMIP1:boundary_CDS_coverage:after_E12 1.000000 786 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAM2 ENST00000480456.6 7 6 2 0 1 10 49 JAM2:single_exon:E3 0.285714 108 JAM2:exon_block:E3-E6 0.857143 564 JAM2:boundary_CDS_coverage:after_E2 0.857143 761 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JAM3 ENST00000299106.9 16 13 3 0 3 9 43 JAM3:single_exon:E1 0.187500 88 JAM3:exon_block:E3-E7 0.750000 700 JAM3:boundary_CDS_coverage:after_E2 0.812500 788 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JARID2 ENST00000341776.7 25 22 5 0 3 18 97 JARID2:single_exon:E7 0.280000 1039 JARID2:exon_block:E7-E11 0.600000 1825 JARID2:boundary_CDS_coverage:after_E1 0.920000 3693 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JKAMP ENST00000616435.5 4 2 2 0 2 7 31 JKAMP:single_exon:E2 0.250000 92 JKAMP:exon_block:E2-E5 1.000000 636 JKAMP:boundary_CDS_coverage:after_E1 1.000000 929 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JMJD1C ENST00000399262.7 4 3 2 0 1 26 145 JMJD1C:single_exon:E2 0.250000 165 JMJD1C:exon_block:E8-E10 0.500000 4059 JMJD1C:boundary_CDS_coverage:after_E1 1.000000 7452 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JMJD8 ENST00000609261.6 25 0 0 25 0 9 43 JMJD8:single_exon:E9 1.000000 1205 JMJD8:exon_block:E8-E9 1.000000 1340 JMJD8:boundary_CDS_coverage:after_E8 1.000000 78 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JPH1 ENST00000342232.5 4 4 1 0 0 6 24 JPH1:single_exon:E1 0.500000 632 JPH1:exon_block:E1-E4 1.000000 2158 JPH1:boundary_CDS_coverage:after_E3 0.500000 725 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JPH2 ENST00000372980.4 9 9 0 0 0 6 24 JPH2:single_exon:E1 0.444444 862 JPH2:exon_block:E1-E4 1.000000 2493 JPH2:boundary_CDS_coverage:after_E1 0.555556 1709 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JUN ENST00000371222.4 1 1 0 0 0 1 1 JUN:single_exon:E1 1.000000 3257 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true JUP ENST00000393931.8 37 33 7 0 4 14 73 JUP:single_exon:E11 0.189189 151 JUP:exon_block:E7-E11 0.513514 870 JUP:boundary_CDS_coverage:after_E1 1.000000 2235 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KANK1 ENST00000382297.7 1 1 1 0 0 12 61 KANK1:single_exon:E6 1.000000 240 KANK1:exon_block:E6-E7 1.000000 328 KANK1:boundary_CDS_coverage:after_E5 1.000000 1051 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KANK2 ENST00000586659.6 3 3 0 0 0 13 67 KANK2:single_exon:E9 0.666667 220 KANK2:exon_block:E6-E9 1.000000 651 KANK2:boundary_CDS_coverage:after_E5 1.000000 1136 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KANSL1 ENST00000432791.7 121 105 26 0 16 15 79 KANSL1:single_exon:E2 0.314050 1378 KANSL1:exon_block:E2-E6 0.561983 1937 KANSL1:boundary_CDS_coverage:after_E1 1.000000 3315 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KARS1 ENST00000302445.8 32 30 7 0 2 14 73 KARS1:single_exon:E3 0.156250 166 KARS1:exon_block:E10-E14 0.468750 713 KARS1:boundary_CDS_coverage:after_E1 0.968750 1729 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KASH5 ENST00000447857.8 7 4 4 0 3 20 109 KASH5:single_exon:E16 0.142857 59 KASH5:exon_block:E12-E16 0.428571 395 KASH5:boundary_CDS_coverage:after_E1 1.000000 1686 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KAT14 ENST00000688188.1 2 1 0 1 0 11 55 KAT14:single_exon:E7 0.500000 569 KAT14:exon_block:E7-E8 0.500000 706 KAT14:boundary_CDS_coverage:after_E1 1.000000 2343 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KAT2A ENST00000225916.10 1 1 0 0 0 18 97 KAT2A:single_exon:E14 1.000000 115 KAT2A:exon_block:E14-E15 1.000000 152 KAT2A:boundary_CDS_coverage:after_E13 1.000000 492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KAT5 ENST00000341318.9 4 4 2 0 0 13 67 KAT5:single_exon:E3 0.500000 137 KAT5:exon_block:E2-E3 0.500000 206 KAT5:boundary_CDS_coverage:after_E2 1.000000 1391 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KAT6A ENST00000265713.8 191 177 30 0 14 17 91 KAT6A:single_exon:E17 0.439791 5389 KAT6A:exon_block:E13-E17 0.675393 6745 KAT6A:boundary_CDS_coverage:after_E1 1.000000 6012 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KAT6B ENST00000287239.10 169 156 18 0 13 18 97 KAT6B:single_exon:E18 0.532544 4136 KAT6B:exon_block:E14-E18 0.840237 5171 KAT6B:boundary_CDS_coverage:after_E1 1.000000 6219 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KAT8 ENST00000219797.9 11 11 5 0 0 11 55 KAT8:single_exon:E3 0.454545 176 KAT8:exon_block:E2-E5 1.000000 470 KAT8:boundary_CDS_coverage:after_E1 1.000000 1163 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KATNB1 ENST00000379661.8 13 11 3 0 2 20 109 KATNB1:single_exon:E3 0.230769 131 KATNB1:exon_block:E3-E7 0.461538 476 KATNB1:boundary_CDS_coverage:after_E1 1.000000 1965 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KATNIP ENST00000261588.10 42 31 16 0 11 28 157 KATNIP:single_exon:E16 0.142857 723 KATNIP:exon_block:E21-E25 0.285714 576 KATNIP:boundary_CDS_coverage:after_E1 1.000000 4847 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KBTBD13 ENST00000432196.5 3 3 0 0 0 1 1 KBTBD13:single_exon:E1 1.000000 3203 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNA1 ENST00000382545.5 43 43 0 0 0 2 4 KCNA1:single_exon:E2 1.000000 7417 KCNA1:exon_block:E1-E2 1.000000 7985 KCNA1:boundary_CDS_coverage:after_E1 1.000000 1485 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNA2 ENST00000316361.10 63 62 0 1 0 3 8 KCNA2:single_exon:E3 1.000000 11366 KCNA2:exon_block:E2-E3 1.000000 11698 KCNA2:boundary_CDS_coverage:after_E1 1.000000 1497 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNA3 ENST00000369769.4 16 16 0 0 0 1 1 KCNA3:single_exon:E1 1.000000 2476 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNA5 ENST00000252321.5 3 3 0 0 0 1 1 KCNA5:single_exon:E1 1.000000 2910 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNA6 ENST00000280684.4 3 3 0 0 0 1 1 KCNA6:single_exon:E1 1.000000 3985 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNB1 ENST00000371741.6 113 113 0 0 0 2 4 KCNB1:single_exon:E2 0.982301 11116 KCNB1:exon_block:E1-E2 1.000000 11871 KCNB1:boundary_CDS_coverage:after_E1 0.982301 2007 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNB2 ENST00000523207.2 1 1 0 0 0 3 8 KCNB2:single_exon:E3 1.000000 2415 KCNB2:exon_block:E2-E3 1.000000 3087 KCNB2:boundary_CDS_coverage:after_E2 1.000000 2154 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNC1 ENST00000265969.8 16 16 0 0 0 4 13 KCNC1:single_exon:E2 0.687500 934 KCNC1:exon_block:E1-E3 1.000000 2915 KCNC1:boundary_CDS_coverage:after_E1 0.750000 1185 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNC2 ENST00000549446.6 17 17 0 0 0 5 19 KCNC2:single_exon:E3 0.764706 928 KCNC2:exon_block:E2-E3 1.000000 1634 KCNC2:boundary_CDS_coverage:after_E1 1.000000 1914 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNC3 ENST00000477616.2 11 11 0 0 0 5 18 KCNC3:single_exon:E2 0.636364 1108 KCNC3:exon_block:E1-E3 1.000000 2465 KCNC3:boundary_CDS_coverage:after_E1 0.909091 1401 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCND2 ENST00000331113.9 8 8 0 0 0 6 25 KCND2:single_exon:E2 0.750000 163 KCND2:exon_block:E1-E2 1.000000 2736 KCND2:boundary_CDS_coverage:after_E1 0.750000 775 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCND3 ENST00000302127.5 28 28 0 0 0 8 37 KCND3:single_exon:E2 0.571429 1178 KCND3:exon_block:E2-E3 1.000000 1341 KCND3:boundary_CDS_coverage:after_E1 1.000000 1965 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNE1 ENST00000399286.3 21 21 0 0 0 4 13 KCNE1:single_exon:E4 1.000000 2995 KCNE1:exon_block:E3-E4 1.000000 3106 KCNE1:boundary_CDS_coverage:after_E1 1.000000 387 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNE2 ENST00000290310.4 1 1 0 0 0 2 4 KCNE2:single_exon:E2 1.000000 915 KCNE2:exon_block:E1-E2 1.000000 1061 KCNE2:boundary_CDS_coverage:after_E1 1.000000 369 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNF1 ENST00000295082.3 1 1 0 0 0 1 1 KCNF1:single_exon:E1 1.000000 2292 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNH1 ENST00000271751.10 27 27 2 0 0 11 55 KCNH1:single_exon:E7 0.444444 430 KCNH1:exon_block:E6-E9 0.962963 1357 KCNH1:boundary_CDS_coverage:after_E2 1.000000 2764 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNH2 ENST00000262186.10 720 652 107 0 68 15 79 KCNH2:single_exon:E7 0.193056 388 KCNH2:exon_block:E4-E8 0.455556 1673 KCNH2:boundary_CDS_coverage:after_E1 0.984722 3401 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNH5 ENST00000322893.12 11 10 1 0 1 11 55 KCNH5:single_exon:E7 0.454545 427 KCNH5:exon_block:E6-E9 0.909091 1273 KCNH5:boundary_CDS_coverage:after_E5 1.000000 2415 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNH8 ENST00000328405.7 1 1 0 0 0 16 85 KCNH8:single_exon:E2 1.000000 234 KCNH8:exon_block:E2-E3 1.000000 366 KCNH8:boundary_CDS_coverage:after_E1 1.000000 3245 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNIP1 ENST00000328939.9 1 1 1 0 0 8 37 KCNIP1:single_exon:E5 1.000000 108 KCNIP1:exon_block:E4-E5 1.000000 179 KCNIP1:boundary_CDS_coverage:after_E4 1.000000 321 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ1 ENST00000392666.6 74 72 0 1 1 3 8 KCNJ1:single_exon:E3 0.986486 2245 KCNJ1:exon_block:E2-E3 0.986486 2415 KCNJ1:boundary_CDS_coverage:after_E1 1.000000 1116 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ10 ENST00000644903.1 30 29 1 0 1 2 4 KCNJ10:single_exon:E2 0.966667 5066 KCNJ10:exon_block:E1-E2 1.000000 5205 KCNJ10:boundary_CDS_coverage:after_E1 1.000000 1137 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ11 ENST00000339994.5 72 72 0 0 0 1 1 KCNJ11:single_exon:E1 1.000000 3412 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ13 ENST00000233826.4 11 11 1 0 0 3 8 KCNJ13:single_exon:E2 0.545455 476 KCNJ13:exon_block:E2-E3 1.000000 3488 KCNJ13:boundary_CDS_coverage:after_E1 1.000000 1080 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ16 ENST00000392671.6 13 13 0 0 0 4 13 KCNJ16:single_exon:E4 1.000000 3614 KCNJ16:exon_block:E3-E4 1.000000 3711 KCNJ16:boundary_CDS_coverage:after_E1 1.000000 1254 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ2 ENST00000243457.4 66 65 0 0 1 2 4 KCNJ2:single_exon:E2 0.984848 5221 KCNJ2:exon_block:E1-E2 0.984848 5391 KCNJ2:boundary_CDS_coverage:after_E1 1.000000 1281 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ5 ENST00000529694.6 8 8 0 0 0 3 8 KCNJ5:single_exon:E2 1.000000 947 KCNJ5:exon_block:E1-E2 1.000000 1313 KCNJ5:boundary_CDS_coverage:after_E1 1.000000 1257 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ6 ENST00000609713.2 3 3 0 0 0 4 13 KCNJ6:single_exon:E3 1.000000 921 KCNJ6:exon_block:E2-E3 1.000000 973 KCNJ6:boundary_CDS_coverage:after_E2 1.000000 1244 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNJ8 ENST00000240662.3 2 2 0 0 0 3 8 KCNJ8:single_exon:E2 0.500000 444 KCNJ8:exon_block:E2-E3 1.000000 2113 KCNJ8:boundary_CDS_coverage:after_E1 1.000000 1272 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNK17 ENST00000373231.9 1 1 0 0 0 5 19 KCNK17:single_exon:E2 1.000000 115 KCNK17:exon_block:E2-E3 1.000000 276 KCNK17:boundary_CDS_coverage:after_E1 1.000000 759 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNK18 ENST00000334549.1 3 3 0 0 0 3 8 KCNK18:single_exon:E3 1.000000 803 KCNK18:exon_block:E2-E3 1.000000 932 KCNK18:boundary_CDS_coverage:after_E2 1.000000 800 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNK3 ENST00000302909.4 9 9 0 0 0 2 4 KCNK3:single_exon:E2 0.888889 5754 KCNK3:exon_block:E1-E2 1.000000 6191 KCNK3:boundary_CDS_coverage:after_E1 0.888889 899 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNK4 ENST00000422670.7 6 6 0 0 0 7 31 KCNK4:single_exon:E6 0.500000 140 KCNK4:exon_block:E4-E6 1.000000 488 KCNK4:boundary_CDS_coverage:after_E3 1.000000 866 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNK9 ENST00000520439.3 7 7 0 0 0 2 4 KCNK9:single_exon:E2 1.000000 1979 KCNK9:exon_block:E1-E2 1.000000 2393 KCNK9:boundary_CDS_coverage:after_E1 1.000000 839 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNMA1 ENST00000286628.14 48 40 18 0 8 28 157 KCNMA1:single_exon:E8 0.125000 171 KCNMA1:exon_block:E22-E26 0.270833 858 KCNMA1:boundary_CDS_coverage:after_E1 0.895833 3330 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNN2 ENST00000673685.1 19 17 4 0 2 8 37 KCNN2:single_exon:E4 0.263158 142 KCNN2:exon_block:E3-E6 0.894737 800 KCNN2:boundary_CDS_coverage:after_E2 0.894737 1155 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNN3 ENST00000271915.9 6 6 0 0 0 8 37 KCNN3:single_exon:E3 0.500000 419 KCNN3:exon_block:E1-E5 1.000000 2018 KCNN3:boundary_CDS_coverage:after_E2 0.666667 1164 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNN4 ENST00000648319.1 4 4 2 0 0 9 42 KCNN4:single_exon:E5 0.500000 111 KCNN4:exon_block:E5-E7 1.000000 300 KCNN4:boundary_CDS_coverage:after_E4 1.000000 462 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNQ1 ENST00000155840.12 536 462 182 0 74 16 85 KCNQ1:single_exon:E7 0.128731 111 KCNQ1:exon_block:E3-E7 0.498134 555 KCNQ1:boundary_CDS_coverage:after_E1 0.906716 1642 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNQ1OT1 ENST00000597346.1 19 0 0 0 0 1 1 KCNQ1OT1:single_exon:E1 1.000000 91667 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNQ2 ENST00000359125.7 745 683 169 1 61 17 91 KCNQ2:single_exon:E4 0.146309 176 KCNQ2:exon_block:E4-E8 0.520805 604 KCNQ2:boundary_CDS_coverage:after_E1 0.938255 2320 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNQ3 ENST00000388996.10 56 51 17 0 5 15 79 KCNQ3:single_exon:E5 0.285714 156 KCNQ3:exon_block:E4-E8 0.732143 631 KCNQ3:boundary_CDS_coverage:after_E2 0.892857 2139 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNQ4 ENST00000347132.10 54 49 13 0 5 14 73 KCNQ4:single_exon:E5 0.277778 126 KCNQ4:exon_block:E3-E7 0.685185 636 KCNQ4:boundary_CDS_coverage:after_E1 0.888889 1771 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNQ5 ENST00000370398.6 33 32 3 0 1 14 73 KCNQ5:single_exon:E7 0.242424 96 KCNQ5:exon_block:E3-E7 0.575758 636 KCNQ5:boundary_CDS_coverage:after_E1 0.818182 2398 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNT1 ENST00000371757.7 76 75 14 0 1 31 175 KCNT1:single_exon:E15 0.157895 109 KCNT1:exon_block:E21-E25 0.355263 594 KCNT1:boundary_CDS_coverage:after_E6 0.986842 3165 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNT2 ENST00000294725.14 15 14 1 0 1 28 157 KCNT2:single_exon:E8 0.200000 95 KCNT2:exon_block:E8-E11 0.466667 578 KCNT2:boundary_CDS_coverage:after_E1 1.000000 3310 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNU1 ENST00000399881.8 3 2 1 0 1 27 151 KCNU1:single_exon:E12 0.666667 83 KCNU1:exon_block:E12-E13 0.666667 153 KCNU1:boundary_CDS_coverage:after_E11 1.000000 2235 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCNV2 ENST00000382082.4 80 80 4 0 0 2 4 KCNV2:single_exon:E1 0.937500 1586 KCNV2:exon_block:E1-E2 1.000000 2178 KCNV2:boundary_CDS_coverage:after_E1 0.075000 279 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCTD1 ENST00000580059.7 13 13 0 0 0 5 19 KCTD1:single_exon:E2 0.615385 179 KCTD1:exon_block:E2-E3 1.000000 324 KCTD1:boundary_CDS_coverage:after_E1 1.000000 786 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCTD17 ENST00000403888.8 5 3 2 0 2 9 43 KCTD17:single_exon:E5 0.600000 126 KCTD17:exon_block:E4-E5 1.000000 222 KCTD17:boundary_CDS_coverage:after_E3 1.000000 552 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCTD19 ENST00000304372.6 1 1 0 0 0 16 85 KCTD19:single_exon:E2 1.000000 297 KCTD19:exon_block:E1-E2 1.000000 334 KCTD19:boundary_CDS_coverage:after_E1 1.000000 2775 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCTD3 ENST00000259154.9 1 1 0 0 0 18 97 KCTD3:single_exon:E9 1.000000 191 KCTD3:exon_block:E8-E9 1.000000 282 KCTD3:boundary_CDS_coverage:after_E8 1.000000 1819 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KCTD7 ENST00000639828.2 35 33 5 0 2 4 13 KCTD7:single_exon:E4 0.457143 4192 KCTD7:exon_block:E1-E4 1.000000 4869 KCTD7:boundary_CDS_coverage:after_E1 0.942857 723 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDELR2 ENST00000258739.9 4 4 1 0 0 5 19 KDELR2:single_exon:E4 0.750000 253 KDELR2:exon_block:E1-E4 1.000000 699 KDELR2:boundary_CDS_coverage:after_E3 0.750000 285 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDF1 ENST00000320567.6 4 4 0 0 0 4 13 KDF1:single_exon:E2 1.000000 1071 KDF1:exon_block:E2-E3 1.000000 1146 KDF1:boundary_CDS_coverage:after_E1 1.000000 1194 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM1A ENST00000400181.9 16 14 6 0 2 21 115 KDM1A:single_exon:E16 0.250000 133 KDM1A:exon_block:E16-E20 0.437500 711 KDM1A:boundary_CDS_coverage:after_E1 1.000000 2277 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM2A ENST00000529006.7 16 16 2 0 0 21 115 KDM2A:single_exon:E14 0.375000 270 KDM2A:exon_block:E14-E18 0.625000 1369 KDM2A:boundary_CDS_coverage:after_E2 1.000000 3444 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM2B ENST00000377071.9 19 18 1 0 1 23 127 KDM2B:single_exon:E13 0.684211 225 KDM2B:exon_block:E12-E13 0.684211 312 KDM2B:boundary_CDS_coverage:after_E4 1.000000 3611 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM3B ENST00000314358.10 41 39 11 0 2 24 133 KDM3B:single_exon:E19 0.170732 131 KDM3B:exon_block:E8-E12 0.365854 1927 KDM3B:boundary_CDS_coverage:after_E1 0.975610 5091 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM4B ENST00000159111.9 35 27 12 0 8 23 127 KDM4B:single_exon:E5 0.142857 115 KDM4B:exon_block:E11-E15 0.400000 1193 KDM4B:boundary_CDS_coverage:after_E3 1.000000 3147 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM5A ENST00000399788.7 11 8 3 0 3 28 157 KDM5A:single_exon:E1 0.272727 394 KDM5A:exon_block:E1-E2 0.272727 472 KDM5A:boundary_CDS_coverage:after_E9 0.727273 3921 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM5B ENST00000367265.9 95 79 23 0 16 27 151 KDM5B:single_exon:E23 0.126316 486 KDM5B:exon_block:E22-E26 0.252632 1233 KDM5B:boundary_CDS_coverage:after_E1 0.968421 4428 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM5C ENST00000375401.8 185 160 46 0 25 26 145 KDM5C:single_exon:E23 0.108108 600 KDM5C:exon_block:E19-E23 0.313514 1416 KDM5C:boundary_CDS_coverage:after_E1 0.956757 4530 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM6A ENST00000611820.5 171 135 51 0 36 30 169 KDM6A:single_exon:E18 0.152047 779 KDM6A:exon_block:E17-E21 0.333333 1617 KDM6A:boundary_CDS_coverage:after_E1 0.959064 4198 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDM6B ENST00000448097.7 113 100 24 0 13 24 133 KDM6B:single_exon:E12 0.345133 2183 KDM6B:exon_block:E11-E15 0.504425 2970 KDM6B:boundary_CDS_coverage:after_E1 1.000000 4929 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDR ENST00000263923.5 3 2 1 0 1 30 169 KDR:single_exon:E18 0.333333 105 KDR:exon_block:E25-E26 0.333333 206 KDR:boundary_CDS_coverage:after_E5 1.000000 3410 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KDSR ENST00000645214.2 7 6 4 0 1 10 49 KDSR:single_exon:E2 0.285714 90 KDSR:exon_block:E2-E6 0.857143 501 KDSR:boundary_CDS_coverage:after_E1 1.000000 888 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KEL ENST00000355265.7 2 0 2 0 2 19 103 KEL:single_exon:E3 0.500000 142 KEL:exon_block:E3-E4 1.000000 319 KEL:boundary_CDS_coverage:after_E3 1.000000 1973 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KERA ENST00000266719.4 15 15 0 0 0 3 8 KERA:single_exon:E2 0.933333 894 KERA:exon_block:E2-E3 1.000000 1922 KERA:boundary_CDS_coverage:after_E1 1.000000 1056 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KGD4 ENST00000256441.5 2 1 2 0 1 4 13 KGD4:single_exon:E1 0.500000 112 KGD4:exon_block:E1-E4 1.000000 1315 KGD4:boundary_CDS_coverage:after_E1 1.000000 267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KHDC3L ENST00000370367.4 4 4 0 0 0 3 8 KHDC3L:single_exon:E2 0.750000 180 KHDC3L:exon_block:E1-E2 1.000000 421 KHDC3L:boundary_CDS_coverage:after_E1 0.750000 482 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KHDRBS1 ENST00000327300.12 1 1 0 0 0 9 43 KHDRBS1:single_exon:E9 1.000000 1351 KHDRBS1:exon_block:E8-E9 1.000000 1410 KHDRBS1:boundary_CDS_coverage:after_E8 1.000000 95 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KHK ENST00000260598.10 1 1 0 0 0 8 37 KHK:single_exon:E2 1.000000 117 KHK:exon_block:E2-E3 1.000000 252 KHK:boundary_CDS_coverage:after_E1 1.000000 802 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIAA0586 ENST00000652326.2 157 110 52 1 46 31 175 KIAA0586:single_exon:E1 0.070064 745 KIAA0586:exon_block:E6-E10 0.197452 777 KIAA0586:boundary_CDS_coverage:after_E1 0.929936 4445 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIAA0753 ENST00000361413.8 46 35 18 0 11 19 103 KIAA0753:single_exon:E3 0.195652 625 KIAA0753:exon_block:E3-E7 0.478261 1222 KIAA0753:boundary_CDS_coverage:after_E1 1.000000 2901 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIAA0825 ENST00000682413.1 8 7 1 0 1 21 115 KIAA0825:single_exon:E5 0.250000 670 KIAA0825:exon_block:E3-E5 0.375000 971 KIAA0825:boundary_CDS_coverage:after_E1 1.000000 3825 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIAA0930 ENST00000336156.10 2 2 0 0 0 10 49 KIAA0930:single_exon:E8 1.000000 163 KIAA0930:exon_block:E8-E9 1.000000 322 KIAA0930:boundary_CDS_coverage:after_E7 1.000000 360 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIAA1549 ENST00000422774.2 8 7 1 0 1 20 109 KIAA1549:single_exon:E2 0.375000 2691 KIAA1549:exon_block:E9-E13 0.500000 882 KIAA1549:boundary_CDS_coverage:after_E1 0.875000 5663 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KICS2 ENST00000398055.8 5 4 1 0 1 3 8 KICS2:single_exon:E3 0.600000 3579 KICS2:exon_block:E1-E3 1.000000 4159 KICS2:boundary_CDS_coverage:after_E1 0.800000 1100 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIDINS220 ENST00000256707.8 54 48 12 0 6 30 169 KIDINS220:single_exon:E30 0.351852 3125 KIDINS220:exon_block:E27-E30 0.611111 3593 KIDINS220:boundary_CDS_coverage:after_E3 1.000000 5106 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF11 ENST00000260731.5 180 152 56 1 27 22 121 KIF11:single_exon:E18 0.138889 280 KIF11:exon_block:E16-E20 0.377778 921 KIF11:boundary_CDS_coverage:after_E1 0.966667 3091 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF12 ENST00000640217.2 13 10 4 0 3 19 103 KIF12:single_exon:E11 0.230769 105 KIF12:exon_block:E8-E11 0.461538 473 KIF12:boundary_CDS_coverage:after_E2 1.000000 1861 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF14 ENST00000367350.5 43 36 14 0 7 30 169 KIF14:single_exon:E2 0.255814 1227 KIF14:exon_block:E2-E5 0.302326 1669 KIF14:boundary_CDS_coverage:after_E1 1.000000 4944 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF15 ENST00000326047.9 2 1 2 0 1 35 199 KIF15:single_exon:E16 0.500000 142 KIF15:exon_block:E13-E16 1.000000 672 KIF15:boundary_CDS_coverage:after_E12 1.000000 2865 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF19 ENST00000389916.5 1 1 1 0 0 20 109 KIF19:single_exon:E8 1.000000 147 KIF19:exon_block:E8-E9 1.000000 270 KIF19:boundary_CDS_coverage:after_E7 1.000000 2217 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF1A ENST00000498729.9 205 171 61 0 34 49 283 KIF1A:single_exon:E9 0.117073 66 KIF1A:exon_block:E5-E9 0.414634 501 KIF1A:boundary_CDS_coverage:after_E1 1.000000 5373 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF1B ENST00000676179.1 2 2 1 0 0 49 283 KIF1B:single_exon:E12 0.500000 79 KIF1B:exon_block:E11-E12 0.500000 155 KIF1B:boundary_CDS_coverage:after_E3 1.000000 5265 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF1C ENST00000320785.10 38 30 15 0 8 23 127 KIF1C:single_exon:E13 0.105263 146 KIF1C:exon_block:E9-E13 0.342105 445 KIF1C:boundary_CDS_coverage:after_E1 1.000000 3309 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF20A ENST00000394894.8 2 2 0 0 0 19 103 KIF20A:single_exon:E15 0.500000 103 KIF20A:exon_block:E12-E15 1.000000 574 KIF20A:boundary_CDS_coverage:after_E11 1.000000 1318 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF21A ENST00000361418.10 15 14 4 0 1 38 217 KIF21A:single_exon:E20 0.266667 154 KIF21A:exon_block:E17-E21 0.733333 741 KIF21A:boundary_CDS_coverage:after_E4 1.000000 4422 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF22 ENST00000160827.9 8 8 1 0 0 14 73 KIF22:single_exon:E4 0.625000 155 KIF22:exon_block:E2-E5 0.875000 689 KIF22:boundary_CDS_coverage:after_E1 1.000000 1925 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF23 ENST00000679126.1 4 4 0 0 0 24 133 KIF23:single_exon:E23 0.500000 71 KIF23:exon_block:E22-E23 0.750000 153 KIF23:boundary_CDS_coverage:after_E8 1.000000 2146 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF24 ENST00000402558.7 1 1 0 0 0 13 67 KIF24:single_exon:E10 1.000000 110 KIF24:exon_block:E9-E10 1.000000 182 KIF24:boundary_CDS_coverage:after_E9 1.000000 2589 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF26A ENST00000423312.7 9 9 0 0 0 15 79 KIF26A:single_exon:E12 1.000000 2917 KIF26A:exon_block:E11-E12 1.000000 3080 KIF26A:boundary_CDS_coverage:after_E11 1.000000 3453 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF26B ENST00000407071.7 1 1 0 0 0 15 79 KIF26B:single_exon:E12 1.000000 3403 KIF26B:exon_block:E11-E12 1.000000 3566 KIF26B:boundary_CDS_coverage:after_E11 1.000000 3903 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF2A ENST00000407818.8 7 7 3 0 0 21 115 KIF2A:single_exon:E10 0.571429 91 KIF2A:exon_block:E10-E14 0.714286 595 KIF2A:boundary_CDS_coverage:after_E2 1.000000 2073 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF3B ENST00000375712.4 2 2 0 0 0 9 43 KIF3B:single_exon:E4 0.500000 123 KIF3B:exon_block:E2-E4 1.000000 1694 KIF3B:boundary_CDS_coverage:after_E1 1.000000 2241 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF4A ENST00000374403.4 8 5 2 0 3 31 175 KIF4A:single_exon:E15 0.375000 186 KIF4A:exon_block:E14-E15 0.375000 243 KIF4A:boundary_CDS_coverage:after_E6 1.000000 3013 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF5A ENST00000455537.7 94 78 35 0 16 29 162 KIF5A:single_exon:E8 0.138298 125 KIF5A:exon_block:E6-E10 0.382979 523 KIF5A:boundary_CDS_coverage:after_E1 0.978723 2967 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF5B ENST00000302418.5 4 4 0 0 0 26 144 KIF5B:single_exon:E20 0.250000 102 KIF5B:exon_block:E9-E10 0.500000 251 KIF5B:boundary_CDS_coverage:after_E8 1.000000 2178 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF5C ENST00000435030.6 10 10 5 0 0 26 144 KIF5C:single_exon:E3 0.400000 74 KIF5C:exon_block:E3-E5 0.500000 228 KIF5C:boundary_CDS_coverage:after_E2 1.000000 2654 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIF7 ENST00000394412.8 102 89 19 0 13 19 103 KIF7:single_exon:E5 0.127451 520 KIF7:exon_block:E2-E6 0.401961 1584 KIF7:boundary_CDS_coverage:after_E1 1.000000 4029 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIFBP ENST00000361983.7 16 15 4 0 1 7 31 KIFBP:single_exon:E7 0.375000 1442 KIFBP:exon_block:E3-E7 0.687500 1907 KIFBP:boundary_CDS_coverage:after_E2 0.687500 1338 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIRREL1 ENST00000359209.11 2 2 1 0 0 15 79 KIRREL1:single_exon:E13 0.500000 140 KIRREL1:exon_block:E11-E13 1.000000 447 KIRREL1:boundary_CDS_coverage:after_E10 1.000000 999 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIRREL2 ENST00000360202.10 40 0 0 0 0 15 79 KIRREL2:single_exon:E14 0.000000 66 KIRREL2:exon_block:E13-E14 0.000000 176 KIRREL2:boundary_CDS_coverage:after_E14 0.000000 333 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIRREL3 ENST00000525144.7 3 2 1 0 1 17 91 KIRREL3:single_exon:E8 0.666667 149 KIRREL3:exon_block:E7-E8 0.666667 255 KIRREL3:boundary_CDS_coverage:after_E7 1.000000 1486 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KISS1 ENST00000367194.5 2 2 0 0 0 3 8 KISS1:single_exon:E3 1.000000 457 KISS1:exon_block:E2-E3 1.000000 598 KISS1:boundary_CDS_coverage:after_E2 1.000000 311 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KISS1R ENST00000234371.10 16 11 5 1 4 5 19 KISS1R:single_exon:E4 0.375000 233 KISS1R:exon_block:E1-E5 0.937500 1624 KISS1R:boundary_CDS_coverage:after_E1 0.937500 950 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIT ENST00000288135.6 113 94 33 0 19 21 115 KIT:single_exon:E11 0.238938 127 KIT:exon_block:E9-E13 0.451327 644 KIT:boundary_CDS_coverage:after_E1 0.982301 2861 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KITLG ENST00000644744.1 11 10 1 0 1 10 48 KITLG:single_exon:E2 0.818182 114 KITLG:exon_block:E2-E6 1.000000 589 KITLG:boundary_CDS_coverage:after_E1 1.000000 804 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KIZ ENST00000619189.5 51 41 13 0 10 13 67 KIZ:single_exon:E5 0.294118 637 KIZ:exon_block:E3-E7 0.666667 1294 KIZ:boundary_CDS_coverage:after_E1 0.862745 1930 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLB ENST00000257408.5 1 1 0 0 0 5 19 KLB:single_exon:E4 1.000000 1144 KLB:exon_block:E3-E4 1.000000 1413 KLB:boundary_CDS_coverage:after_E3 1.000000 1527 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLC2 ENST00000394067.7 2 0 0 0 0 16 85 KLC2:single_exon:E10 0.000000 50 KLC2:exon_block:E10-E11 0.000000 118 KLC2:boundary_CDS_coverage:after_E15 0.000000 81 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLC4 ENST00000347162.10 2 2 1 0 0 16 85 KLC4:single_exon:E4 0.500000 82 KLC4:exon_block:E4-E6 1.000000 390 KLC4:boundary_CDS_coverage:after_E3 1.000000 1368 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLF1 ENST00000264834.6 25 22 4 0 2 3 8 KLF1:single_exon:E2 0.640000 826 KLF1:exon_block:E1-E3 0.960000 1613 KLF1:boundary_CDS_coverage:after_E1 0.960000 999 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLF2 ENST00000248071.6 1 1 0 0 0 3 8 KLF2:single_exon:E3 1.000000 1830 KLF2:exon_block:E2-E3 1.000000 2647 KLF2:boundary_CDS_coverage:after_E2 1.000000 173 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLF5 ENST00000377687.6 1 1 0 0 0 4 13 KLF5:single_exon:E2 1.000000 874 KLF5:exon_block:E2-E3 1.000000 934 KLF5:boundary_CDS_coverage:after_E1 1.000000 1110 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLF6 ENST00000497571.6 6 6 0 0 0 4 13 KLF6:single_exon:E2 1.000000 574 KLF6:exon_block:E2-E3 1.000000 698 KLF6:boundary_CDS_coverage:after_E1 1.000000 747 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLF7 ENST00000309446.11 1 1 0 0 0 4 13 KLF7:single_exon:E3 1.000000 124 KLF7:exon_block:E2-E3 1.000000 755 KLF7:boundary_CDS_coverage:after_E2 1.000000 173 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHDC2 ENST00000298307.10 2 0 0 2 0 13 67 KLHDC2:single_exon:E13 1.000000 3556 KLHDC2:exon_block:E12-E13 1.000000 3609 KLHDC2:boundary_CDS_coverage:after_E12 1.000000 121 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL10 ENST00000293303.5 1 1 0 0 0 5 19 KLHL10:single_exon:E3 1.000000 618 KLHL10:exon_block:E3-E4 1.000000 768 KLHL10:boundary_CDS_coverage:after_E2 1.000000 1140 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL15 ENST00000328046.8 3 3 0 0 0 4 13 KLHL15:single_exon:E4 1.000000 5311 KLHL15:exon_block:E3-E4 1.000000 6023 KLHL15:boundary_CDS_coverage:after_E3 1.000000 1107 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL17 ENST00000338591.8 1 1 0 0 0 12 61 KLHL17:single_exon:E11 1.000000 182 KLHL17:exon_block:E10-E11 1.000000 256 KLHL17:boundary_CDS_coverage:after_E10 1.000000 408 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL20 ENST00000209884.5 7 7 1 0 0 12 61 KLHL20:single_exon:E8 0.428571 144 KLHL20:exon_block:E7-E10 0.714286 671 KLHL20:boundary_CDS_coverage:after_E3 1.000000 1230 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL24 ENST00000242810.11 11 11 1 0 0 8 37 KLHL24:single_exon:E3 0.818182 981 KLHL24:exon_block:E3-E5 1.000000 1285 KLHL24:boundary_CDS_coverage:after_E1 1.000000 1800 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL3 ENST00000309755.9 29 28 8 0 1 15 79 KLHL3:single_exon:E11 0.206897 102 KLHL3:exon_block:E9-E13 0.620690 688 KLHL3:boundary_CDS_coverage:after_E2 1.000000 1627 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL40 ENST00000287777.5 44 37 10 0 7 6 25 KLHL40:single_exon:E1 0.522727 1234 KLHL40:exon_block:E1-E5 1.000000 1836 KLHL40:boundary_CDS_coverage:after_E1 0.522727 711 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL41 ENST00000284669.2 32 32 3 0 0 6 25 KLHL41:single_exon:E1 0.625000 1187 KLHL41:exon_block:E1-E5 0.968750 1786 KLHL41:boundary_CDS_coverage:after_E1 0.375000 708 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLHL7 ENST00000339077.10 46 38 13 0 8 11 55 KLHL7:single_exon:E5 0.282609 176 KLHL7:exon_block:E5-E9 0.782609 937 KLHL7:boundary_CDS_coverage:after_E1 1.000000 1638 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLK11 ENST00000453757.8 2 2 0 0 0 6 25 KLK11:single_exon:E3 1.000000 157 KLK11:exon_block:E2-E3 1.000000 232 KLK11:boundary_CDS_coverage:after_E2 1.000000 710 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLK4 ENST00000324041.6 7 6 2 0 1 6 25 KLK4:single_exon:E6 0.428571 736 KLK4:exon_block:E3-E6 1.000000 1287 KLK4:boundary_CDS_coverage:after_E2 1.000000 701 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLKB1 ENST00000264690.11 13 12 2 0 1 15 79 KLKB1:single_exon:E11 0.307692 169 KLKB1:exon_block:E7-E11 0.615385 715 KLKB1:boundary_CDS_coverage:after_E2 1.000000 1856 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KLLN ENST00000445946.5 4 0 0 4 0 1 1 KLLN:single_exon:E1 1.000000 4376 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KMT2A ENST00000534358.8 520 477 73 0 43 36 205 KMT2A:single_exon:E27 0.280769 4249 KMT2A:exon_block:E3-E7 0.367308 3510 KMT2A:boundary_CDS_coverage:after_E1 0.965385 11484 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KMT2B ENST00000420124.4 137 132 13 0 5 37 211 KMT2B:single_exon:E3 0.175182 2021 KMT2B:exon_block:E1-E4 0.284672 2587 KMT2B:boundary_CDS_coverage:after_E1 0.934307 7782 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KMT2C ENST00000262189.11 174 158 31 0 16 59 343 KMT2C:single_exon:E38 0.126437 1820 KMT2C:exon_block:E35-E38 0.275862 4180 KMT2C:boundary_CDS_coverage:after_E1 0.988506 14572 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KMT2D ENST00000301067.12 1026 918 181 0 108 55 319 KMT2D:single_exon:E40 0.194932 2790 KMT2D:exon_block:E39-E43 0.243665 3492 KMT2D:boundary_CDS_coverage:after_E1 1.000000 16611 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KMT2E ENST00000311117.8 136 122 28 0 14 27 151 KMT2E:single_exon:E27 0.169118 3195 KMT2E:exon_block:E23-E27 0.294118 3795 KMT2E:boundary_CDS_coverage:after_E1 1.000000 5574 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KMT5B ENST00000304363.9 71 65 19 0 6 11 55 KMT5B:single_exon:E11 0.352113 4309 KMT5B:exon_block:E7-E11 0.718310 4830 KMT5B:boundary_CDS_coverage:after_E1 1.000000 2655 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KNG1 ENST00000644859.2 9 7 3 0 2 10 49 KNG1:single_exon:E10 0.444444 2889 KNG1:exon_block:E6-E10 0.777778 3342 KNG1:boundary_CDS_coverage:after_E2 1.000000 1626 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KNL1 ENST00000399668.7 22 21 2 0 1 26 145 KNL1:single_exon:E10 0.590909 5001 KNL1:exon_block:E10-E12 0.681818 5208 KNL1:boundary_CDS_coverage:after_E4 1.000000 6813 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KNSTRN ENST00000249776.13 1 1 0 0 0 9 43 KNSTRN:single_exon:E6 1.000000 94 KNSTRN:exon_block:E6-E7 1.000000 156 KNSTRN:boundary_CDS_coverage:after_E5 1.000000 357 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KPNA3 ENST00000261667.8 7 7 2 0 0 17 91 KPNA3:single_exon:E12 0.571429 129 KPNA3:exon_block:E12-E15 0.857143 469 KPNA3:boundary_CDS_coverage:after_E8 1.000000 1007 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KPNA7 ENST00000327442.7 2 2 0 0 0 11 55 KPNA7:single_exon:E10 0.500000 147 KPNA7:exon_block:E9-E10 0.500000 330 KPNA7:boundary_CDS_coverage:after_E4 1.000000 1264 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KPTN ENST00000338134.8 21 15 13 0 6 12 61 KPTN:single_exon:E8 0.333333 78 KPTN:exon_block:E6-E10 0.761905 474 KPTN:boundary_CDS_coverage:after_E2 0.952381 999 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRAS ENST00000311936.8 94 92 15 0 2 5 19 KRAS:single_exon:E2 0.361702 122 KRAS:exon_block:E2-E5 0.978723 5127 KRAS:boundary_CDS_coverage:after_E1 1.000000 564 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KREMEN1 ENST00000400335.9 2 2 2 0 0 9 43 KREMEN1:single_exon:E4 0.500000 125 KREMEN1:exon_block:E4-E5 1.000000 279 KREMEN1:boundary_CDS_coverage:after_E3 1.000000 1022 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRIT1 ENST00000394505.7 349 296 104 0 53 19 103 KRIT1:single_exon:E17 0.120344 207 KRIT1:exon_block:E13-E17 0.441261 771 KRIT1:boundary_CDS_coverage:after_E1 1.000000 2208 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT1 ENST00000252244.3 48 41 9 0 7 9 43 KRT1:single_exon:E1 0.354167 650 KRT1:exon_block:E5-E9 0.520833 1429 KRT1:boundary_CDS_coverage:after_E1 0.708333 1341 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT10 ENST00000269576.6 41 32 10 0 9 8 37 KRT10:single_exon:E1 0.414634 656 KRT10:exon_block:E5-E7 0.585366 719 KRT10:boundary_CDS_coverage:after_E4 0.585366 723 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT12 ENST00000251643.5 10 10 0 0 0 8 37 KRT12:single_exon:E1 0.900000 604 KRT12:exon_block:E1-E2 0.900000 687 KRT12:boundary_CDS_coverage:after_E5 0.100000 387 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT13 ENST00000246635.8 2 2 0 0 0 8 37 KRT13:single_exon:E1 1.000000 557 KRT13:exon_block:E1-E2 1.000000 640 KRT13:boundary_CDS_coverage:after_E7 0.000000 104 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT14 ENST00000167586.7 76 73 7 0 3 8 37 KRT14:single_exon:E1 0.421053 586 KRT14:exon_block:E1-E4 0.605263 988 KRT14:boundary_CDS_coverage:after_E1 0.578947 891 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT16 ENST00000301653.9 22 22 1 0 0 8 37 KRT16:single_exon:E1 0.909091 610 KRT16:exon_block:E1-E2 0.909091 693 KRT16:boundary_CDS_coverage:after_E5 0.090909 360 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT17 ENST00000311208.13 18 17 1 0 1 8 37 KRT17:single_exon:E1 0.888889 498 KRT17:exon_block:E1-E5 0.944444 1026 KRT17:boundary_CDS_coverage:after_E5 0.111111 336 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT2 ENST00000309680.4 11 11 3 0 0 9 43 KRT2:single_exon:E7 0.545455 221 KRT2:exon_block:E7-E8 0.545455 256 KRT2:boundary_CDS_coverage:after_E6 0.545455 669 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT25 ENST00000312150.5 2 2 1 0 0 8 37 KRT25:single_exon:E5 0.500000 126 KRT25:exon_block:E4-E5 1.000000 288 KRT25:boundary_CDS_coverage:after_E3 1.000000 681 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT3 ENST00000417996.2 5 5 2 0 0 9 43 KRT3:single_exon:E7 1.000000 221 KRT3:exon_block:E7-E8 1.000000 256 KRT3:boundary_CDS_coverage:after_E6 1.000000 570 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT4 ENST00000551956.2 3 3 0 0 0 9 43 KRT4:single_exon:E1 0.666667 520 KRT4:exon_block:E1-E2 0.666667 735 KRT4:boundary_CDS_coverage:after_E6 0.333333 435 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT5 ENST00000252242.9 96 90 16 0 6 9 43 KRT5:single_exon:E1 0.375000 653 KRT5:exon_block:E1-E5 0.645833 1190 KRT5:boundary_CDS_coverage:after_E1 0.635417 1215 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT6A ENST00000330722.7 29 25 7 0 4 9 43 KRT6A:single_exon:E1 0.448276 609 KRT6A:exon_block:E6-E9 0.517241 1162 KRT6A:boundary_CDS_coverage:after_E3 0.551724 876 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT6B ENST00000252252.4 5 5 2 0 0 9 43 KRT6B:single_exon:E7 0.600000 221 KRT6B:exon_block:E7-E8 0.600000 256 KRT6B:boundary_CDS_coverage:after_E6 0.600000 489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT6C ENST00000252250.7 3 3 1 0 0 9 43 KRT6C:single_exon:E7 0.666667 221 KRT6C:exon_block:E7-E8 0.666667 256 KRT6C:boundary_CDS_coverage:after_E6 0.666667 489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT71 ENST00000267119.6 1 1 0 0 0 9 43 KRT71:single_exon:E1 1.000000 509 KRT71:exon_block:E1-E2 1.000000 724 KRT71:boundary_CDS_coverage:after_E8 0.000000 209 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT74 ENST00000305620.3 3 2 1 0 1 9 43 KRT74:single_exon:E9 0.666667 1387 KRT74:exon_block:E8-E9 0.666667 1422 KRT74:boundary_CDS_coverage:after_E8 0.666667 197 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT81 ENST00000327741.9 2 2 1 0 0 9 43 KRT81:single_exon:E7 1.000000 221 KRT81:exon_block:E7-E8 1.000000 253 KRT81:boundary_CDS_coverage:after_E6 1.000000 489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT83 ENST00000293670.3 3 3 1 0 0 9 43 KRT83:single_exon:E7 1.000000 221 KRT83:exon_block:E7-E8 1.000000 253 KRT83:boundary_CDS_coverage:after_E6 1.000000 438 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT85 ENST00000257901.7 1 1 0 0 0 9 43 KRT85:single_exon:E9 1.000000 1041 KRT85:exon_block:E8-E9 1.000000 1073 KRT85:boundary_CDS_coverage:after_E8 1.000000 191 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT86 ENST00000423955.7 8 6 2 0 2 11 55 KRT86:single_exon:E9 0.500000 221 KRT86:exon_block:E9-E10 0.500000 253 KRT86:boundary_CDS_coverage:after_E1 1.000000 1458 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRT9 ENST00000246662.9 18 18 0 0 0 8 36 KRT9:single_exon:E1 0.888889 709 KRT9:exon_block:E1-E2 0.888889 792 KRT9:boundary_CDS_coverage:after_E5 0.111111 699 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KRTCAP3 ENST00000288873.7 17 0 0 0 0 7 30 KRTCAP3:single_exon:E1 0.000000 60 KRTCAP3:exon_block:E6-E7 0.000000 225 KRTCAP3:boundary_CDS_coverage:after_E5 1.000000 105 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KSR2 ENST00000339824.7 3 2 2 0 1 20 109 KSR2:single_exon:E8 0.333333 68 KSR2:exon_block:E8-E12 0.666667 477 KSR2:boundary_CDS_coverage:after_E7 1.000000 1525 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KY ENST00000423778.7 8 8 3 0 0 11 55 KY:single_exon:E6 0.500000 83 KY:exon_block:E6-E10 0.625000 690 KY:boundary_CDS_coverage:after_E5 0.750000 1583 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true KYNU ENST00000264170.9 22 18 12 0 4 14 73 KYNU:single_exon:E4 0.136364 83 KYNU:exon_block:E8-E12 0.454545 459 KYNU:boundary_CDS_coverage:after_E2 1.000000 1226 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true L1CAM ENST00000370060.7 203 146 80 0 57 29 163 L1CAM:single_exon:E19 0.073892 223 L1CAM:exon_block:E19-E23 0.266010 838 L1CAM:boundary_CDS_coverage:after_E1 1.000000 3771 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true L2HGDH ENST00000267436.9 43 33 15 0 10 10 49 L2HGDH:single_exon:E7 0.186047 168 L2HGDH:exon_block:E4-E8 0.558140 656 L2HGDH:boundary_CDS_coverage:after_E1 0.976744 1249 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true L3HYPDH ENST00000247194.9 4 0 0 0 0 5 19 L3HYPDH:single_exon:E3 0.000000 123 L3HYPDH:exon_block:E3-E4 0.000000 261 L3HYPDH:boundary_CDS_coverage:after_E4 0.000000 123 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true L3MBTL1 ENST00000418998.7 1 1 0 0 0 22 121 L3MBTL1:single_exon:E18 1.000000 198 L3MBTL1:exon_block:E18-E19 1.000000 248 L3MBTL1:boundary_CDS_coverage:after_E17 1.000000 661 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true L3MBTL2 ENST00000216237.10 1 1 0 0 0 17 91 L3MBTL2:single_exon:E2 1.000000 238 L3MBTL2:exon_block:E1-E2 1.000000 313 L3MBTL2:boundary_CDS_coverage:after_E1 1.000000 2091 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LACC1 ENST00000325686.7 8 8 0 0 0 7 30 LACC1:single_exon:E2 0.500000 596 LACC1:exon_block:E2-E6 1.000000 1328 LACC1:boundary_CDS_coverage:after_E1 1.000000 1290 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LACTB ENST00000261893.9 1 1 0 0 0 6 25 LACTB:single_exon:E4 1.000000 337 LACTB:exon_block:E4-E5 1.000000 503 LACTB:boundary_CDS_coverage:after_E3 1.000000 1026 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAGE3 ENST00000357360.5 3 2 2 0 1 3 8 LAGE3:single_exon:E2 0.333333 129 LAGE3:exon_block:E1-E3 1.000000 967 LAGE3:boundary_CDS_coverage:after_E1 1.000000 241 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMA1 ENST00000389658.4 125 103 35 0 22 63 367 LAMA1:single_exon:E21 0.064000 181 LAMA1:exon_block:E18-E22 0.144000 724 LAMA1:boundary_CDS_coverage:after_E1 0.992000 9164 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMA2 ENST00000421865.3 953 734 322 0 219 65 379 LAMA2:single_exon:E12 0.030430 174 LAMA2:exon_block:E19-E23 0.098636 874 LAMA2:boundary_CDS_coverage:after_E1 0.985310 9254 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMA3 ENST00000313654.14 266 170 114 0 96 75 439 LAMA3:single_exon:E39 0.045113 114 LAMA3:exon_block:E47-E51 0.161654 779 LAMA3:boundary_CDS_coverage:after_E9 1.000000 8726 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMA4 ENST00000230538.12 3 3 0 0 0 39 223 LAMA4:single_exon:E35 0.333333 160 LAMA4:exon_block:E2-E6 0.666667 859 LAMA4:boundary_CDS_coverage:after_E1 1.000000 5469 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMA5 ENST00000252999.7 24 22 8 0 2 80 469 LAMA5:single_exon:E34 0.125000 212 LAMA5:exon_block:E34-E38 0.208333 877 LAMA5:boundary_CDS_coverage:after_E1 1.000000 10788 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMB1 ENST00000222399.11 42 33 13 0 9 34 193 LAMB1:single_exon:E9 0.071429 121 LAMB1:exon_block:E8-E12 0.261905 806 LAMB1:boundary_CDS_coverage:after_E3 1.000000 5145 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMB2 ENST00000305544.9 108 85 33 0 23 32 181 LAMB2:single_exon:E29 0.092593 142 LAMB2:exon_block:E25-E29 0.259259 1126 LAMB2:boundary_CDS_coverage:after_E1 0.990741 5318 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMB3 ENST00000356082.9 305 238 93 1 66 23 127 LAMB3:single_exon:E6 0.088525 192 LAMB3:exon_block:E6-E10 0.298361 760 LAMB3:boundary_CDS_coverage:after_E1 1.000000 3516 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMC2 ENST00000264144.5 223 181 70 0 42 23 127 LAMC2:single_exon:E14 0.071749 206 LAMC2:exon_block:E14-E18 0.278027 740 LAMC2:boundary_CDS_coverage:after_E1 0.986547 3500 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMC3 ENST00000361069.9 102 77 32 0 25 28 157 LAMC3:single_exon:E5 0.088235 189 LAMC3:exon_block:E1-E5 0.323529 1206 LAMC3:boundary_CDS_coverage:after_E1 0.911765 4352 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAMP2 ENST00000200639.9 140 116 42 0 24 9 43 LAMP2:single_exon:E2 0.178571 119 LAMP2:exon_block:E2-E6 0.685714 800 LAMP2:boundary_CDS_coverage:after_E1 0.914286 1166 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LARGE1 ENST00000397394.8 38 32 9 0 6 15 79 LARGE1:single_exon:E12 0.184211 279 LARGE1:exon_block:E8-E12 0.447368 838 LARGE1:boundary_CDS_coverage:after_E1 1.000000 2268 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LARGE2 ENST00000401752.6 1 0 0 0 0 14 73 LARGE2:single_exon:E1 0.000000 73 LARGE2:exon_block:E3-E4 0.000000 207 LARGE2:boundary_CDS_coverage:after_E13 1.000000 213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LARP4B ENST00000316157.8 1 1 0 0 0 18 97 LARP4B:single_exon:E13 1.000000 252 LARP4B:exon_block:E13-E14 1.000000 298 LARP4B:boundary_CDS_coverage:after_E12 1.000000 982 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LARP7 ENST00000344442.10 85 75 16 0 10 13 67 LARP7:single_exon:E7 0.317647 351 LARP7:exon_block:E5-E9 0.694118 907 LARP7:boundary_CDS_coverage:after_E1 1.000000 1746 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LARS1 ENST00000394434.7 29 26 7 0 3 32 181 LARS1:single_exon:E8 0.137931 64 LARS1:exon_block:E7-E11 0.275862 559 LARS1:boundary_CDS_coverage:after_E1 1.000000 3522 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LARS2 ENST00000645846.2 65 54 18 0 11 22 121 LARS2:single_exon:E13 0.153846 284 LARS2:exon_block:E11-E15 0.400000 742 LARS2:boundary_CDS_coverage:after_E1 1.000000 2709 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAS1L ENST00000374811.8 6 6 2 0 0 14 73 LAS1L:single_exon:E10 0.333333 207 LAS1L:exon_block:E10-E14 0.833333 1305 LAS1L:boundary_CDS_coverage:after_E5 1.000000 1403 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LAT ENST00000395456.7 9 8 1 0 0 12 60 LAT:single_exon:E5 0.333333 65 LAT:exon_block:E1-E5 0.666667 676 LAT:boundary_CDS_coverage:after_E1 0.666667 599 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LATS1 ENST00000543571.6 3 3 0 0 0 8 37 LATS1:single_exon:E3 0.333333 148 LATS1:exon_block:E3-E6 1.000000 2428 LATS1:boundary_CDS_coverage:after_E2 1.000000 3042 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LATS2 ENST00000382592.5 1 1 0 0 0 8 37 LATS2:single_exon:E7 1.000000 107 LATS2:exon_block:E6-E7 1.000000 290 LATS2:boundary_CDS_coverage:after_E6 1.000000 599 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LBHD1 ENST00000354588.8 1 0 0 1 0 7 31 LBHD1:single_exon:E1 1.000000 704 LBHD1:exon_block:E1-E2 1.000000 864 LBHD1:boundary_CDS_coverage:after_E6 0.000000 28 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LBR ENST00000272163.9 29 23 7 0 6 14 73 LBR:single_exon:E3 0.172414 201 LBR:exon_block:E11-E14 0.517241 2335 LBR:boundary_CDS_coverage:after_E1 1.000000 1845 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LBX1 ENST00000370193.4 1 1 0 0 0 2 4 LBX1:single_exon:E2 1.000000 797 LBX1:exon_block:E1-E2 1.000000 1770 LBX1:boundary_CDS_coverage:after_E1 1.000000 518 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LCA5 ENST00000369846.9 167 156 20 0 11 8 37 LCA5:single_exon:E8 0.347305 2876 LCA5:exon_block:E4-E8 0.616766 3387 LCA5:boundary_CDS_coverage:after_E1 1.000000 2091 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LCAT ENST00000264005.10 39 36 5 0 3 6 25 LCAT:single_exon:E6 0.435897 729 LCAT:exon_block:E2-E6 0.846154 1323 LCAT:boundary_CDS_coverage:after_E1 0.897436 1166 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LCK ENST00000336890.10 18 12 11 0 6 13 67 LCK:single_exon:E6 0.222222 104 LCK:exon_block:E3-E7 0.500000 526 LCK:boundary_CDS_coverage:after_E2 1.000000 1422 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LCP1 ENST00000323076.7 1 1 0 0 0 16 85 LCP1:single_exon:E10 1.000000 196 LCP1:exon_block:E10-E11 1.000000 275 LCP1:boundary_CDS_coverage:after_E9 1.000000 903 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LCP2 ENST00000046794.10 1 0 1 0 1 21 115 LCP2:single_exon:E14 1.000000 31 LCP2:exon_block:E14-E15 1.000000 44 LCP2:boundary_CDS_coverage:after_E14 1.000000 642 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LCT ENST00000264162.7 49 42 12 0 7 17 91 LCT:single_exon:E1 0.142857 655 LCT:exon_block:E6-E10 0.448980 3478 LCT:boundary_CDS_coverage:after_E1 0.857143 5141 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LDB3 ENST00000361373.9 38 30 12 0 8 14 73 LDB3:single_exon:E6 0.184211 170 LDB3:exon_block:E2-E6 0.578947 882 LDB3:boundary_CDS_coverage:after_E1 1.000000 2181 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LDHA ENST00000422447.8 13 10 6 0 3 8 37 LDHA:single_exon:E6 0.384615 118 LDHA:exon_block:E3-E7 0.923077 708 LDHA:boundary_CDS_coverage:after_E2 1.000000 870 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LDHD ENST00000450168.3 8 7 2 0 1 11 55 LDHD:single_exon:E8 0.250000 128 LDHD:exon_block:E4-E8 0.625000 759 LDHD:boundary_CDS_coverage:after_E2 1.000000 1267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LDLR ENST00000558518.6 1933 1724 410 3 192 18 97 LDLR:single_exon:E4 0.221417 381 LDLR:exon_block:E4-E8 0.427832 873 LDLR:boundary_CDS_coverage:after_E1 0.976203 2513 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LDLRAD2 ENST00000344642.7 5 0 0 4 1 5 19 LDLRAD2:single_exon:E5 0.800000 3024 LDLRAD2:exon_block:E4-E5 0.800000 3186 LDLRAD2:boundary_CDS_coverage:after_E3 1.000000 173 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LDLRAP1 ENST00000374338.5 68 54 17 0 14 9 43 LDLRAP1:single_exon:E1 0.220588 181 LDLRAP1:exon_block:E1-E5 0.750000 625 LDLRAP1:boundary_CDS_coverage:after_E1 0.779412 836 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LEF1 ENST00000265165.6 6 6 1 0 0 12 60 LEF1:single_exon:E4 0.500000 133 LEF1:exon_block:E4-E8 0.666667 594 LEF1:boundary_CDS_coverage:after_E3 0.833333 783 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LEMD2 ENST00000293760.10 2 2 0 0 0 9 43 LEMD2:single_exon:E1 1.000000 750 LEMD2:exon_block:E1-E2 1.000000 791 LEMD2:boundary_CDS_coverage:after_E8 0.000000 148 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LEMD3 ENST00000308330.3 70 58 18 0 12 13 67 LEMD3:single_exon:E1 0.428571 1536 LEMD3:exon_block:E1-E5 0.557143 1789 LEMD3:boundary_CDS_coverage:after_E1 0.585714 1211 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LENG1 ENST00000222224.4 3 0 0 3 0 4 13 LENG1:single_exon:E4 1.000000 780 LENG1:exon_block:E3-E4 1.000000 1043 LENG1:boundary_CDS_coverage:after_E3 1.000000 217 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LEO1 ENST00000299601.10 1 1 0 0 0 12 61 LEO1:single_exon:E2 1.000000 756 LEO1:exon_block:E1-E2 1.000000 847 LEO1:boundary_CDS_coverage:after_E1 1.000000 1940 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LEP ENST00000308868.5 8 8 0 0 0 3 8 LEP:single_exon:E3 0.875000 3226 LEP:exon_block:E2-E3 1.000000 3398 LEP:boundary_CDS_coverage:after_E1 1.000000 501 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LEPR ENST00000349533.11 34 28 7 0 6 20 109 LEPR:single_exon:E4 0.176471 330 LEPR:exon_block:E3-E7 0.352941 869 LEPR:boundary_CDS_coverage:after_E1 1.000000 3495 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LETM1 ENST00000302787.3 9 8 4 0 1 14 73 LETM1:single_exon:E6 0.444444 204 LETM1:exon_block:E5-E7 0.666667 462 LETM1:boundary_CDS_coverage:after_E4 1.000000 1479 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LFNG ENST00000222725.10 8 6 4 0 2 8 37 LFNG:single_exon:E2 0.250000 49 LFNG:exon_block:E1-E5 0.875000 909 LFNG:boundary_CDS_coverage:after_E1 0.750000 705 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LGI1 ENST00000371418.9 70 58 15 1 11 8 37 LGI1:single_exon:E8 0.428571 1192 LGI1:exon_block:E4-E8 0.842857 1671 LGI1:boundary_CDS_coverage:after_E1 0.928571 1456 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LGI3 ENST00000306317.7 11 8 4 0 2 8 37 LGI3:single_exon:E8 0.363636 2148 LGI3:exon_block:E4-E8 0.636364 2627 LGI3:boundary_CDS_coverage:after_E1 0.909091 1438 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LGI4 ENST00000310123.8 17 15 5 0 2 9 43 LGI4:single_exon:E8 0.470588 506 LGI4:exon_block:E7-E9 0.764706 1666 LGI4:boundary_CDS_coverage:after_E1 0.941176 1441 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LGR4 ENST00000379214.9 2 2 0 0 0 18 97 LGR4:single_exon:E3 0.500000 72 LGR4:exon_block:E2-E3 0.500000 144 LGR4:boundary_CDS_coverage:after_E2 1.000000 2596 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LHB ENST00000649238.3 6 4 2 0 2 3 8 LHB:single_exon:E2 0.833333 168 LHB:exon_block:E2-E3 1.000000 499 LHB:boundary_CDS_coverage:after_E1 1.000000 408 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LHCGR ENST00000294954.12 56 49 7 0 7 11 55 LHCGR:single_exon:E11 0.660714 2076 LHCGR:exon_block:E7-E11 0.767857 2487 LHCGR:boundary_CDS_coverage:after_E1 0.928571 1936 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LHFPL5 ENST00000360215.3 23 21 4 0 2 4 12 LHFPL5:single_exon:E1 0.565217 731 LHFPL5:exon_block:E1-E3 1.000000 995 LHFPL5:boundary_CDS_coverage:after_E1 0.434783 245 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LHX2 ENST00000373615.9 7 7 0 0 0 5 19 LHX2:single_exon:E2 0.428571 203 LHX2:exon_block:E2-E5 1.000000 1695 LHX2:boundary_CDS_coverage:after_E1 1.000000 1098 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LHX3 ENST00000371748.10 50 32 9 0 18 6 25 LHX3:single_exon:E2 0.200000 172 LHX3:exon_block:E2-E6 0.760000 2190 LHX3:boundary_CDS_coverage:after_E1 1.000000 1112 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LHX4 ENST00000263726.4 13 10 5 0 3 6 25 LHX4:single_exon:E4 0.230769 155 LHX4:exon_block:E2-E6 1.000000 5502 LHX4:boundary_CDS_coverage:after_E1 1.000000 1094 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIAS ENST00000640888.2 32 28 7 0 4 11 55 LIAS:single_exon:E2 0.281250 173 LIAS:exon_block:E2-E6 0.656250 563 LIAS:boundary_CDS_coverage:after_E1 1.000000 1071 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIFR ENST00000453190.7 172 134 61 0 38 20 109 LIFR:single_exon:E11 0.087209 163 LIFR:exon_block:E9-E13 0.360465 764 LIFR:boundary_CDS_coverage:after_E1 1.000000 3291 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIG1 ENST00000263274.12 3 3 2 0 0 28 157 LIG1:single_exon:E18 0.333333 116 LIG1:exon_block:E25-E26 0.333333 198 LIG1:boundary_CDS_coverage:after_E12 1.000000 1670 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIG3 ENST00000378526.9 11 9 3 0 2 20 109 LIG3:single_exon:E2 0.181818 551 LIG3:exon_block:E17-E20 0.363636 5936 LIG3:boundary_CDS_coverage:after_E1 1.000000 3027 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIG4 ENST00000442234.6 112 112 0 0 0 3 8 LIG4:single_exon:E3 1.000000 3855 LIG4:exon_block:E2-E3 1.000000 3928 LIG4:boundary_CDS_coverage:after_E1 1.000000 2733 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIM2 ENST00000596399.2 3 3 1 0 0 5 19 LIM2:single_exon:E4 0.333333 135 LIM2:exon_block:E3-E5 1.000000 639 LIM2:boundary_CDS_coverage:after_E2 1.000000 344 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIMK1 ENST00000336180.7 2 2 0 0 0 16 85 LIMK1:single_exon:E2 0.500000 97 LIMK1:exon_block:E13-E14 0.500000 213 LIMK1:boundary_CDS_coverage:after_E1 1.000000 1886 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIMS2 ENST00000355119.9 3 2 1 0 1 10 49 LIMS2:single_exon:E3 0.333333 67 LIMS2:exon_block:E3-E5 0.666667 338 LIMS2:boundary_CDS_coverage:after_E3 1.000000 785 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LINGO1 ENST00000355300.7 2 2 0 0 0 2 4 LINGO1:single_exon:E2 1.000000 2874 LINGO1:exon_block:E1-E2 1.000000 3477 LINGO1:boundary_CDS_coverage:after_E1 1.000000 1854 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LINS1 ENST00000314742.13 32 27 6 0 5 7 31 LINS1:single_exon:E7 0.375000 3194 LINS1:exon_block:E4-E7 0.937500 4099 LINS1:boundary_CDS_coverage:after_E1 1.000000 2271 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIPA ENST00000336233.10 158 133 48 0 25 10 49 LIPA:single_exon:E4 0.227848 199 LIPA:exon_block:E4-E8 0.689873 665 LIPA:boundary_CDS_coverage:after_E1 1.000000 1197 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIPC ENST00000299022.10 4 3 2 0 1 9 43 LIPC:single_exon:E7 0.500000 118 LIPC:exon_block:E5-E7 1.000000 595 LIPC:boundary_CDS_coverage:after_E4 1.000000 923 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIPE ENST00000244289.9 5 5 1 0 0 10 49 LIPE:single_exon:E4 0.200000 146 LIPE:exon_block:E1-E4 0.600000 1895 LIPE:boundary_CDS_coverage:after_E1 0.800000 2345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIPH ENST00000296252.9 12 10 1 0 2 10 49 LIPH:single_exon:E2 0.416667 368 LIPH:exon_block:E2-E6 0.833333 837 LIPH:boundary_CDS_coverage:after_E1 1.000000 1304 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIPT1 ENST00000651691.1 7 7 1 0 0 2 4 LIPT1:single_exon:E2 1.000000 1181 LIPT1:exon_block:E1-E2 1.000000 1266 LIPT1:boundary_CDS_coverage:after_E1 1.000000 1119 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LIPT2 ENST00000310109.5 2 2 0 0 0 2 4 LIPT2:single_exon:E1 1.000000 487 LIPT2:exon_block:E1-E2 1.000000 2333 LIPT2:boundary_CDS_coverage:after_E1 0.000000 227 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LITAF ENST00000622633.5 8 8 0 0 0 4 13 LITAF:single_exon:E3 0.750000 157 LITAF:exon_block:E3-E4 1.000000 2181 LITAF:boundary_CDS_coverage:after_E2 1.000000 263 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMAN1 ENST00000251047.6 14 11 5 0 3 13 67 LMAN1:single_exon:E1 0.285714 235 LMAN1:exon_block:E1-E5 0.571429 660 LMAN1:boundary_CDS_coverage:after_E1 0.714286 1316 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMAN2L ENST00000264963.9 3 3 0 0 0 8 37 LMAN2L:single_exon:E6 0.333333 115 LMAN2L:exon_block:E6-E8 0.666667 1705 LMAN2L:boundary_CDS_coverage:after_E5 0.666667 375 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMBR1 ENST00000353442.10 18 1 1 0 17 17 91 LMBR1:single_exon:E11 0.055556 77 LMBR1:exon_block:E11-E12 0.055556 155 LMBR1:boundary_CDS_coverage:after_E5 1.000000 1047 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMBR1L ENST00000267102.13 2 2 2 0 0 17 91 LMBR1L:single_exon:E11 1.000000 77 LMBR1L:exon_block:E11-E12 1.000000 155 LMBR1L:boundary_CDS_coverage:after_E10 1.000000 614 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMBRD1 ENST00000649934.3 57 37 30 0 20 16 85 LMBRD1:single_exon:E6 0.157895 89 LMBRD1:exon_block:E4-E8 0.403509 455 LMBRD1:boundary_CDS_coverage:after_E1 0.947368 1551 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMBRD2 ENST00000296603.5 10 10 3 0 0 18 97 LMBRD2:single_exon:E12 0.300000 106 LMBRD2:exon_block:E9-E13 0.600000 704 LMBRD2:boundary_CDS_coverage:after_E1 1.000000 2085 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMF1 ENST00000262301.16 29 26 6 0 3 11 55 LMF1:single_exon:E9 0.206897 184 LMF1:exon_block:E5-E9 0.517241 753 LMF1:boundary_CDS_coverage:after_E1 0.896552 1508 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMNA ENST00000368300.9 536 469 92 2 65 12 61 LMNA:single_exon:E1 0.246269 564 LMNA:exon_block:E1-E5 0.552239 1144 LMNA:boundary_CDS_coverage:after_E1 0.763060 1636 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMNB1 ENST00000261366.10 9 6 2 0 3 11 55 LMNB1:single_exon:E1 0.444444 732 LMNB1:exon_block:E1-E5 0.777778 1312 LMNB1:boundary_CDS_coverage:after_E1 0.555556 1399 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMNB2 ENST00000325327.4 4 4 1 0 0 12 61 LMNB2:single_exon:E4 0.250000 126 LMNB2:exon_block:E1-E4 0.750000 710 LMNB2:boundary_CDS_coverage:after_E2 0.750000 1459 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMOD1 ENST00000367288.5 3 3 0 0 0 3 8 LMOD1:single_exon:E2 1.000000 1515 LMOD1:exon_block:E1-E2 1.000000 1984 LMOD1:boundary_CDS_coverage:after_E1 1.000000 1539 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMOD2 ENST00000458573.3 7 6 1 0 1 3 8 LMOD2:single_exon:E2 0.714286 1344 LMOD2:exon_block:E1-E2 1.000000 1715 LMOD2:boundary_CDS_coverage:after_E1 0.857143 1368 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMOD3 ENST00000420581.7 47 47 2 0 0 3 8 LMOD3:single_exon:E2 0.787234 1362 LMOD3:exon_block:E1-E2 1.000000 1865 LMOD3:boundary_CDS_coverage:after_E1 0.787234 1386 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMX1A ENST00000342310.7 9 9 0 0 0 9 43 LMX1A:single_exon:E5 0.333333 173 LMX1A:exon_block:E4-E8 1.000000 725 LMX1A:boundary_CDS_coverage:after_E3 1.000000 883 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LMX1B ENST00000373474.9 148 130 37 1 17 8 37 LMX1B:single_exon:E2 0.331081 187 LMX1B:exon_block:E2-E6 0.918919 747 LMX1B:boundary_CDS_coverage:after_E1 0.979730 1067 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LNPK ENST00000272748.9 8 7 3 0 1 13 67 LNPK:single_exon:E12 0.375000 171 LNPK:exon_block:E9-E12 0.750000 561 LNPK:boundary_CDS_coverage:after_E6 1.000000 927 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LOC112694756 ENST00000338110.11 11 0 5 8 3 14 64 LOC112694756:single_exon:E11 0.181818 84 LOC112694756:exon_block:E10-E14 0.818182 918 LOC112694756:boundary_CDS_coverage:after_E4 1.000000 111 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LOC128092249 ENST00000652508.1 3 3 0 0 0 1 1 LOC128092249:single_exon:E1 1.000000 204 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LOC128092252 ENST00000676296.1 1 0 1 0 1 4 13 LOC128092252:single_exon:E1 1.000000 187 LOC128092252:exon_block:E1-E2 1.000000 267 LOC128092252:boundary_CDS_coverage:after_E1 1.000000 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LONP1 ENST00000360614.8 24 21 8 0 3 18 97 LONP1:single_exon:E5 0.125000 62 LONP1:exon_block:E12-E16 0.375000 765 LONP1:boundary_CDS_coverage:after_E2 0.916667 2359 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LONP2 ENST00000285737.9 19 0 0 0 0 15 79 LONP2:single_exon:E6 0.000000 95 LONP2:exon_block:E3-E4 0.000000 255 LONP2:boundary_CDS_coverage:after_E14 1.000000 219 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LORICRIN ENST00000368742.4 8 8 0 0 0 2 4 LORICRIN:single_exon:E2 1.000000 1198 LORICRIN:exon_block:E1-E2 1.000000 1245 LORICRIN:boundary_CDS_coverage:after_E1 1.000000 936 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LOX ENST00000231004.5 54 45 13 0 9 7 31 LOX:single_exon:E1 0.462963 905 LOX:exon_block:E1-E5 0.981481 1405 LOX:boundary_CDS_coverage:after_E1 0.537037 620 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LOXHD1 ENST00000642948.1 443 331 156 0 112 41 235 LOXHD1:single_exon:E19 0.067720 463 LOXHD1:exon_block:E17-E21 0.162528 1106 LOXHD1:boundary_CDS_coverage:after_E1 0.977427 6689 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LOXL3 ENST00000264094.8 8 3 1 4 1 14 73 LOXL3:single_exon:E14 0.500000 1422 LOXL3:exon_block:E2-E6 0.500000 1105 LOXL3:boundary_CDS_coverage:after_E2 1.000000 1946 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LPA ENST00000316300.10 2 2 0 0 0 39 223 LPA:single_exon:E2 0.500000 160 LPA:exon_block:E1-E2 0.500000 270 LPA:boundary_CDS_coverage:after_E1 1.000000 6071 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LPAR6 ENST00000620633.5 18 18 0 0 0 1 1 LPAR6:single_exon:E1 1.000000 1976 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LPCAT2 ENST00000262134.10 1 0 0 0 1 14 73 LPCAT2:single_exon:E7 0.000000 35 LPCAT2:exon_block:E7-E8 0.000000 90 LPCAT2:boundary_CDS_coverage:after_E1 1.000000 1461 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LPIN1 ENST00000674199.1 55 46 22 0 9 21 115 LPIN1:single_exon:E3 0.145455 96 LPIN1:exon_block:E7-E11 0.363636 813 LPIN1:boundary_CDS_coverage:after_E1 1.000000 2778 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LPIN2 ENST00000677752.1 45 31 19 0 14 20 109 LPIN2:single_exon:E14 0.133333 145 LPIN2:exon_block:E3-E7 0.466667 976 LPIN2:boundary_CDS_coverage:after_E1 1.000000 2688 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LPL ENST00000650287.1 158 138 33 0 20 10 48 LPL:single_exon:E6 0.265823 243 LPL:exon_block:E2-E6 0.740506 930 LPL:boundary_CDS_coverage:after_E1 0.962025 1337 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRAT ENST00000336356.4 34 33 3 0 1 3 8 LRAT:single_exon:E2 0.882353 541 LRAT:exon_block:E2-E3 1.000000 4678 LRAT:boundary_CDS_coverage:after_E1 1.000000 690 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRBA ENST00000651943.2 186 140 58 0 46 57 331 LRBA:single_exon:E23 0.069892 1059 LRBA:exon_block:E22-E26 0.193548 1766 LRBA:boundary_CDS_coverage:after_E1 1.000000 8556 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRCH2 ENST00000317135.13 1 1 0 0 0 21 115 LRCH2:single_exon:E5 1.000000 137 LRCH2:exon_block:E4-E5 1.000000 243 LRCH2:boundary_CDS_coverage:after_E4 1.000000 1568 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRFN1 ENST00000248668.5 1 1 0 0 0 5 19 LRFN1:single_exon:E4 1.000000 1443 LRFN1:exon_block:E3-E4 1.000000 1498 LRFN1:boundary_CDS_coverage:after_E1 1.000000 2313 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRFN4 ENST00000309602.5 1 1 0 0 0 2 4 LRFN4:single_exon:E2 1.000000 839 LRFN4:exon_block:E1-E2 1.000000 2869 LRFN4:boundary_CDS_coverage:after_E1 1.000000 556 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRIF1 ENST00000369763.5 1 1 0 0 0 4 13 LRIF1:single_exon:E2 1.000000 1528 LRIF1:exon_block:E2-E3 1.000000 1801 LRIF1:boundary_CDS_coverage:after_E1 1.000000 2239 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRIG2 ENST00000361127.6 11 8 6 0 3 18 97 LRIG2:single_exon:E10 0.181818 72 LRIG2:exon_block:E7-E10 0.363636 441 LRIG2:boundary_CDS_coverage:after_E2 0.818182 2890 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRIT3 ENST00000594814.6 5 5 0 0 0 4 13 LRIT3:single_exon:E4 0.400000 2671 LRIT3:exon_block:E1-E4 1.000000 3661 LRIT3:boundary_CDS_coverage:after_E1 0.800000 1921 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRMDA ENST00000611255.5 11 9 4 0 2 7 31 LRMDA:single_exon:E4 0.363636 140 LRMDA:exon_block:E3-E7 1.000000 3430 LRMDA:boundary_CDS_coverage:after_E2 1.000000 547 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRP1 ENST00000243077.8 6 4 2 0 2 89 523 LRP1:single_exon:E18 0.166667 117 LRP1:exon_block:E29-E32 0.333333 648 LRP1:boundary_CDS_coverage:after_E5 1.000000 13055 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRP1-AS ENST00000555461.1 1 0 0 0 1 2 3 LRP1-AS:single_exon:E1 0.000000 181 LRP1-AS:exon_block:E1-E2 0.000000 645 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRP1B ENST00000389484.8 6 6 0 0 0 91 535 LRP1B:single_exon:E23 0.333333 246 LRP1B:exon_block:E23-E27 0.666667 1059 LRP1B:boundary_CDS_coverage:after_E22 1.000000 10277 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRP2 ENST00000649046.1 205 149 66 0 56 79 463 LRP2:single_exon:E50 0.039024 517 LRP2:exon_block:E20-E24 0.112195 897 LRP2:boundary_CDS_coverage:after_E1 1.000000 13886 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRP4 ENST00000378623.6 46 33 19 0 13 38 217 LRP4:single_exon:E11 0.065217 126 LRP4:exon_block:E10-E14 0.239130 867 LRP4:boundary_CDS_coverage:after_E1 1.000000 5663 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRP5 ENST00000294304.12 215 189 42 0 26 23 127 LRP5:single_exon:E6 0.148837 397 LRP5:exon_block:E2-E6 0.400000 1321 LRP5:boundary_CDS_coverage:after_E1 0.976744 4754 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRP6 ENST00000261349.9 71 61 19 0 10 23 127 LRP6:single_exon:E6 0.112676 397 LRP6:exon_block:E5-E9 0.323944 1208 LRP6:boundary_CDS_coverage:after_E1 1.000000 4784 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRPAP1 ENST00000650182.1 5 5 1 0 0 8 37 LRPAP1:single_exon:E5 0.400000 159 LRPAP1:exon_block:E1-E5 0.800000 761 LRPAP1:boundary_CDS_coverage:after_E4 0.600000 479 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRPPRC ENST00000260665.12 332 255 125 0 77 38 217 LRPPRC:single_exon:E2 0.048193 197 LRPPRC:exon_block:E1-E5 0.186747 692 LRPPRC:boundary_CDS_coverage:after_E1 0.957831 4033 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC23 ENST00000443597.7 2 1 1 0 1 8 36 LRRC23:single_exon:E5 0.500000 131 LRRC23:exon_block:E4-E5 1.000000 385 LRRC23:boundary_CDS_coverage:after_E3 1.000000 793 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC32 ENST00000260061.9 3 2 0 0 1 3 8 LRRC32:single_exon:E3 0.666667 3985 LRRC32:exon_block:E2-E3 0.666667 4073 LRRC32:boundary_CDS_coverage:after_E2 1.000000 1902 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC37A2 ENST00000576629.6 37 0 0 0 0 14 73 LRRC37A2:single_exon:E11 0.000000 50 LRRC37A2:exon_block:E11-E12 0.000000 105 LRRC37A2:boundary_CDS_coverage:after_E13 1.000000 46 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC41 ENST00000617190.5 2 0 0 2 0 10 49 LRRC41:single_exon:E10 1.000000 1623 LRRC41:exon_block:E9-E10 1.000000 1699 LRRC41:boundary_CDS_coverage:after_E9 1.000000 217 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC45 ENST00000306688.8 1 0 1 0 1 17 91 LRRC45:single_exon:E14 1.000000 93 LRRC45:exon_block:E13-E14 1.000000 186 LRRC45:boundary_CDS_coverage:after_E13 1.000000 609 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC51 ENST00000289488.8 2 1 1 0 1 6 25 LRRC51:single_exon:E5 0.500000 149 LRRC51:exon_block:E4-E5 1.000000 355 LRRC51:boundary_CDS_coverage:after_E3 1.000000 494 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC53 ENST00000294635.5 1 0 0 0 1 5 19 LRRC53:single_exon:E1 0.000000 86 LRRC53:exon_block:E1-E2 0.000000 200 LRRC53:boundary_CDS_coverage:after_E1 1.000000 3741 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC56 ENST00000270115.8 74 16 9 0 6 14 73 LRRC56:single_exon:E8 0.067568 201 LRRC56:exon_block:E8-E12 0.202703 758 LRRC56:boundary_CDS_coverage:after_E1 0.297297 1626 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC7 ENST00000651989.2 5 5 0 0 0 27 151 LRRC7:single_exon:E4 0.200000 118 LRRC7:exon_block:E3-E4 0.400000 321 LRRC7:boundary_CDS_coverage:after_E2 1.000000 4625 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRC8C ENST00000370454.9 2 2 0 0 0 3 8 LRRC8C:single_exon:E3 1.000000 6825 LRRC8C:exon_block:E2-E3 1.000000 6967 LRRC8C:boundary_CDS_coverage:after_E2 1.000000 2271 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRCC1 ENST00000360375.8 1 0 1 0 1 19 103 LRRCC1:single_exon:E2 1.000000 206 LRRCC1:exon_block:E2-E3 1.000000 272 LRRCC1:boundary_CDS_coverage:after_E1 1.000000 2992 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRK1 ENST00000388948.8 24 18 9 0 6 34 193 LRRK1:single_exon:E3 0.125000 164 LRRK1:exon_block:E20-E24 0.250000 1003 LRRK1:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRRK2 ENST00000298910.12 10 10 5 0 0 51 295 LRRK2:single_exon:E31 0.500000 219 LRRK2:exon_block:E31-E35 0.700000 853 LRRK2:boundary_CDS_coverage:after_E24 1.000000 4234 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LRSAM1 ENST00000300417.11 88 70 26 0 18 26 145 LRSAM1:single_exon:E25 0.227273 134 LRSAM1:exon_block:E22-E26 0.511364 1173 LRSAM1:boundary_CDS_coverage:after_E3 1.000000 2097 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LSM1 ENST00000311351.9 1 1 1 0 0 4 13 LSM1:single_exon:E3 1.000000 116 LSM1:exon_block:E2-E3 1.000000 185 LSM1:boundary_CDS_coverage:after_E2 1.000000 284 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LSM11 ENST00000286307.6 1 1 0 0 0 4 13 LSM11:single_exon:E3 1.000000 84 LSM11:exon_block:E2-E3 1.000000 224 LSM11:boundary_CDS_coverage:after_E2 1.000000 492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LSM7 ENST00000252622.15 2 2 0 0 0 4 13 LSM7:single_exon:E3 0.500000 72 LSM7:exon_block:E3-E4 1.000000 374 LSM7:boundary_CDS_coverage:after_E2 1.000000 212 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LSR ENST00000605618.6 2 1 1 0 1 10 49 LSR:single_exon:E6 0.500000 174 LSR:exon_block:E2-E6 1.000000 843 LSR:boundary_CDS_coverage:after_E1 1.000000 1694 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LSS ENST00000397728.8 36 29 15 0 7 22 121 LSS:single_exon:E5 0.138889 122 LSS:exon_block:E3-E7 0.444444 603 LSS:boundary_CDS_coverage:after_E1 0.972222 2182 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LTBP1 ENST00000404816.7 7 5 4 0 2 34 193 LTBP1:single_exon:E28 0.142857 87 LTBP1:exon_block:E30-E33 0.428571 585 LTBP1:boundary_CDS_coverage:after_E5 1.000000 3962 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LTBP2 ENST00000261978.9 77 59 25 0 18 36 205 LTBP2:single_exon:E1 0.103896 787 LTBP2:exon_block:E1-E5 0.233766 1485 LTBP2:boundary_CDS_coverage:after_E1 0.909091 4969 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LTBP3 ENST00000301873.11 95 65 37 1 29 28 157 LTBP3:single_exon:E15 0.073684 123 LTBP3:exon_block:E12-E16 0.315789 633 LTBP3:boundary_CDS_coverage:after_E1 0.978947 3578 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LTBP4 ENST00000396819.8 73 52 16 0 10 30 169 LTBP4:single_exon:E28 0.109589 381 LTBP4:exon_block:E2-E6 0.205479 741 LTBP4:boundary_CDS_coverage:after_E1 0.821918 4421 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LTV1 ENST00000367576.6 1 1 0 0 0 11 55 LTV1:single_exon:E5 1.000000 142 LTV1:exon_block:E4-E5 1.000000 230 LTV1:boundary_CDS_coverage:after_E4 1.000000 1028 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LUC7L2 ENST00000354926.9 1 0 0 0 0 10 49 LUC7L2:single_exon:E8 0.000000 30 LUC7L2:exon_block:E7-E8 0.000000 122 LUC7L2:boundary_CDS_coverage:after_E9 0.000000 175 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LURAP1L ENST00000319264.4 1 1 0 0 0 2 4 LURAP1L:single_exon:E2 1.000000 1675 LURAP1L:exon_block:E1-E2 1.000000 2683 LURAP1L:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LY6G5B ENST00000375864.5 1 0 0 0 0 3 8 LY6G5B:single_exon:E2 0.000000 129 LY6G5B:exon_block:E1-E2 0.000000 1162 LY6G5B:boundary_CDS_coverage:after_E2 0.000000 416 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LYN ENST00000519728.6 4 4 0 0 0 13 67 LYN:single_exon:E13 1.000000 4262 LYN:exon_block:E12-E13 1.000000 4394 LYN:boundary_CDS_coverage:after_E12 1.000000 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LYRM4 ENST00000330636.9 1 1 1 0 0 3 8 LYRM4:single_exon:E2 1.000000 121 LYRM4:exon_block:E1-E2 1.000000 424 LYRM4:boundary_CDS_coverage:after_E1 1.000000 187 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LYRM7 ENST00000379380.9 14 9 6 0 5 5 19 LYRM7:single_exon:E2 0.285714 73 LYRM7:exon_block:E1-E5 1.000000 6219 LYRM7:boundary_CDS_coverage:after_E1 0.928571 294 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LYSET ENST00000415050.3 3 3 0 0 0 2 4 LYSET:single_exon:E2 1.000000 2204 LYSET:exon_block:E1-E2 1.000000 2373 LYSET:boundary_CDS_coverage:after_E1 1.000000 409 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LYST ENST00000389793.7 272 229 59 0 43 53 307 LYST:single_exon:E5 0.154412 2080 LYST:exon_block:E3-E7 0.297794 3562 LYST:boundary_CDS_coverage:after_E1 1.000000 11403 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LYZ ENST00000261267.7 4 4 0 0 0 4 13 LYZ:single_exon:E2 1.000000 165 LYZ:exon_block:E2-E3 1.000000 244 LYZ:boundary_CDS_coverage:after_E1 1.000000 308 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LZTFL1 ENST00000296135.11 21 15 9 0 5 10 49 LZTFL1:single_exon:E3 0.285714 195 LZTFL1:exon_block:E3-E7 0.666667 472 LZTFL1:boundary_CDS_coverage:after_E1 0.952381 894 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LZTR1 ENST00000646124.2 798 640 264 0 158 21 115 LZTR1:single_exon:E9 0.078947 202 LZTR1:exon_block:E5-E9 0.293233 593 LZTR1:boundary_CDS_coverage:after_E1 0.938596 2320 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true LZTS1 ENST00000381569.5 2 2 1 0 0 4 13 LZTS1:single_exon:E2 0.500000 479 LZTS1:exon_block:E2-E3 1.000000 1283 LZTS1:boundary_CDS_coverage:after_E1 1.000000 1788 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true M1AP ENST00000421985.2 3 1 1 0 2 11 55 M1AP:single_exon:E3 0.333333 186 M1AP:exon_block:E3-E4 0.333333 355 M1AP:boundary_CDS_coverage:after_E2 1.000000 1350 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAB21L1 ENST00000379919.6 8 8 0 0 0 1 1 MAB21L1:single_exon:E1 1.000000 2901 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAB21L2 ENST00000317605.6 8 8 0 0 0 1 1 MAB21L2:single_exon:E1 1.000000 2543 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MACF1 ENST00000564288.6 20 17 6 0 3 101 595 MACF1:single_exon:E96 0.300000 118 MACF1:exon_block:E92-E96 0.550000 529 MACF1:boundary_CDS_coverage:after_E16 1.000000 20751 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MACROD2 ENST00000684519.1 1 0 0 0 1 18 97 MACROD2:single_exon:E4 0.000000 30 MACROD2:exon_block:E7-E8 0.000000 105 MACROD2:boundary_CDS_coverage:after_E3 1.000000 1073 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MACROH2A1 ENST00000511689.6 1 1 0 0 0 9 43 MACROH2A1:single_exon:E2 1.000000 205 MACROH2A1:exon_block:E2-E3 1.000000 312 MACROH2A1:boundary_CDS_coverage:after_E1 1.000000 1116 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAD1L1 ENST00000265854.12 6 6 0 0 0 19 103 MAD1L1:single_exon:E4 0.333333 141 MAD1L1:exon_block:E14-E18 0.500000 639 MAD1L1:boundary_CDS_coverage:after_E3 1.000000 2004 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAD2L2 ENST00000376692.9 1 1 0 0 0 9 43 MAD2L2:single_exon:E5 1.000000 101 MAD2L2:exon_block:E4-E5 1.000000 173 MAD2L2:boundary_CDS_coverage:after_E4 1.000000 402 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MADD ENST00000706887.1 35 29 10 0 6 37 211 MADD:single_exon:E4 0.142857 304 MADD:exon_block:E2-E5 0.371429 1183 MADD:boundary_CDS_coverage:after_E1 1.000000 4950 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAEL ENST00000367872.9 2 1 1 0 1 12 61 MAEL:single_exon:E9 0.500000 63 MAEL:exon_block:E8-E9 1.000000 205 MAEL:boundary_CDS_coverage:after_E7 1.000000 599 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAF ENST00000326043.5 40 33 0 0 0 2 4 MAF:single_exon:E1 0.825000 1953 MAF:exon_block:E1-E2 0.825000 2669 MAF:boundary_CDS_coverage:after_E1 0.175000 91 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAFA ENST00000333480.3 2 2 0 0 0 1 1 MAFA:single_exon:E1 1.000000 2669 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAFB ENST00000373313.3 24 24 0 0 0 1 1 MAFB:single_exon:E1 1.000000 3389 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAG ENST00000392213.8 16 11 6 0 5 11 55 MAG:single_exon:E9 0.187500 97 MAG:exon_block:E5-E9 0.750000 1201 MAG:boundary_CDS_coverage:after_E3 1.000000 1832 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAGED2 ENST00000375068.6 17 13 7 0 4 13 66 MAGED2:single_exon:E3 0.294118 492 MAGED2:exon_block:E7-E11 0.588235 396 MAGED2:boundary_CDS_coverage:after_E2 1.000000 1773 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAGEL2 ENST00000650528.1 95 95 0 0 0 1 1 MAGEL2:single_exon:E1 1.000000 4319 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAGI2 ENST00000354212.9 9 8 1 0 1 22 121 MAGI2:single_exon:E1 0.444444 648 MAGI2:exon_block:E1-E4 0.555556 1101 MAGI2:boundary_CDS_coverage:after_E3 0.555556 3827 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAGT1 ENST00000618282.5 40 33 13 1 6 10 49 MAGT1:single_exon:E4 0.325000 141 MAGT1:exon_block:E4-E8 0.750000 511 MAGT1:boundary_CDS_coverage:after_E1 0.950000 903 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAK ENST00000354489.7 95 79 26 0 16 15 79 MAK:single_exon:E9 0.147368 312 MAK:exon_block:E6-E10 0.547368 958 MAK:boundary_CDS_coverage:after_E1 1.000000 1944 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAK16 ENST00000360128.11 1 0 0 1 0 10 49 MAK16:single_exon:E10 1.000000 2831 MAK16:exon_block:E9-E10 1.000000 2897 MAK16:boundary_CDS_coverage:after_E9 1.000000 195 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MALT1 ENST00000649217.2 26 20 8 0 6 17 91 MALT1:single_exon:E4 0.192308 151 MALT1:exon_block:E11-E15 0.423077 689 MALT1:boundary_CDS_coverage:after_E1 1.000000 2263 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAMLD1 ENST00000370401.7 7 7 0 0 0 8 36 MAMLD1:single_exon:E4 0.857143 1746 MAMLD1:exon_block:E4-E6 1.000000 2113 MAMLD1:boundary_CDS_coverage:after_E3 1.000000 2151 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAN1B1 ENST00000371589.9 50 45 10 0 5 13 67 MAN1B1:single_exon:E8 0.180000 189 MAN1B1:exon_block:E8-E12 0.520000 831 MAN1B1:boundary_CDS_coverage:after_E1 0.940000 1878 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAN2A2 ENST00000559717.6 2 2 1 0 0 23 127 MAN2A2:single_exon:E22 0.500000 111 MAN2A2:exon_block:E11-E12 0.500000 298 MAN2A2:boundary_CDS_coverage:after_E10 1.000000 1873 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAN2B1 ENST00000456935.7 358 277 126 0 80 24 133 MAN2B1:single_exon:E4 0.081006 194 MAN2B1:exon_block:E1-E5 0.268156 804 MAN2B1:boundary_CDS_coverage:after_E1 0.958101 2874 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAN2B2 ENST00000285599.8 5 5 3 0 0 19 103 MAN2B2:single_exon:E3 0.200000 106 MAN2B2:exon_block:E3-E7 0.600000 772 MAN2B2:boundary_CDS_coverage:after_E2 1.000000 2742 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAN2C1 ENST00000267978.10 9 6 5 0 3 26 145 MAN2C1:single_exon:E22 0.222222 110 MAN2C1:exon_block:E22-E24 0.444444 339 MAN2C1:boundary_CDS_coverage:after_E3 1.000000 2769 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MANBA ENST00000647097.2 109 81 45 0 28 17 91 MANBA:single_exon:E12 0.137615 219 MANBA:exon_block:E9-E13 0.412844 757 MANBA:boundary_CDS_coverage:after_E1 0.990826 2460 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MANEAL ENST00000373045.11 1 1 0 0 0 4 13 MANEAL:single_exon:E1 1.000000 886 MANEAL:exon_block:E1-E2 1.000000 996 MANEAL:boundary_CDS_coverage:after_E3 0.000000 634 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MANF ENST00000528157.7 3 2 1 0 1 4 13 MANF:single_exon:E1 1.000000 146 MANF:exon_block:E1-E2 1.000000 274 MANF:boundary_CDS_coverage:after_E1 0.333333 452 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAOA ENST00000338702.4 17 14 6 0 3 15 79 MAOA:single_exon:E2 0.176471 95 MAOA:exon_block:E1-E3 0.411765 349 MAOA:boundary_CDS_coverage:after_E1 0.941176 1508 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP1A ENST00000300231.6 1 1 0 0 0 6 25 MAP1A:single_exon:E4 1.000000 8185 MAP1A:exon_block:E3-E4 1.000000 8326 MAP1A:boundary_CDS_coverage:after_E1 1.000000 8409 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP1B ENST00000296755.12 42 42 0 0 0 7 31 MAP1B:single_exon:E5 0.928571 6502 MAP1B:exon_block:E2-E6 1.000000 7067 MAP1B:boundary_CDS_coverage:after_E1 1.000000 7220 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP2K1 ENST00000307102.10 57 57 2 0 0 11 55 MAP2K1:single_exon:E2 0.421053 211 MAP2K1:exon_block:E2-E6 0.947368 613 MAP2K1:boundary_CDS_coverage:after_E1 1.000000 1099 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP2K2 ENST00000262948.10 22 22 0 0 0 11 55 MAP2K2:single_exon:E2 0.545455 211 MAP2K2:exon_block:E2-E6 1.000000 613 MAP2K2:boundary_CDS_coverage:after_E1 1.000000 1108 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP3K1 ENST00000399503.4 18 16 2 0 2 20 109 MAP3K1:single_exon:E2 0.277778 151 MAP3K1:exon_block:E2-E4 0.388889 553 MAP3K1:boundary_CDS_coverage:after_E1 1.000000 4054 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP3K11 ENST00000309100.8 1 1 0 0 0 10 49 MAP3K11:single_exon:E2 1.000000 181 MAP3K11:exon_block:E2-E3 1.000000 330 MAP3K11:boundary_CDS_coverage:after_E1 1.000000 1802 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP3K14 ENST00000344686.8 2 2 0 0 0 16 85 MAP3K14:single_exon:E10 0.500000 164 MAP3K14:exon_block:E9-E10 0.500000 269 MAP3K14:boundary_CDS_coverage:after_E4 1.000000 2304 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP3K20 ENST00000375213.8 13 11 4 0 2 20 109 MAP3K20:single_exon:E7 0.230769 138 MAP3K20:exon_block:E16-E19 0.461538 436 MAP3K20:boundary_CDS_coverage:after_E3 1.000000 2153 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP3K3 ENST00000361733.8 1 1 0 0 0 16 85 MAP3K3:single_exon:E13 1.000000 132 MAP3K3:exon_block:E13-E14 1.000000 262 MAP3K3:boundary_CDS_coverage:after_E12 1.000000 666 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP3K6 ENST00000357582.3 1 1 0 0 0 29 163 MAP3K6:single_exon:E19 1.000000 158 MAP3K6:exon_block:E18-E19 1.000000 264 MAP3K6:boundary_CDS_coverage:after_E18 1.000000 1439 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP3K7 ENST00000369329.8 26 24 8 0 2 17 91 MAP3K7:single_exon:E4 0.230769 46 MAP3K7:exon_block:E4-E8 0.769231 570 MAP3K7:boundary_CDS_coverage:after_E1 1.000000 1698 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP4K2 ENST00000294066.7 1 0 0 0 0 32 181 MAP4K2:single_exon:E17 0.000000 34 MAP4K2:exon_block:E16-E17 0.000000 73 MAP4K2:boundary_CDS_coverage:after_E31 0.000000 85 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAP4K4 ENST00000324219.9 14 13 7 0 1 33 187 MAP4K4:single_exon:E7 0.357143 131 MAP4K4:exon_block:E3-E7 0.571429 516 MAP4K4:boundary_CDS_coverage:after_E2 0.928571 4029 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPK1 ENST00000215832.11 13 13 3 0 0 9 42 MAPK1:single_exon:E7 0.307692 110 MAPK1:exon_block:E2-E4 0.538462 490 MAPK1:boundary_CDS_coverage:after_E1 1.000000 961 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPK3 ENST00000263025.9 1 1 0 0 0 9 42 MAPK3:single_exon:E3 1.000000 190 MAPK3:exon_block:E3-E4 1.000000 307 MAPK3:boundary_CDS_coverage:after_E2 1.000000 784 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPK7 ENST00000395604.8 3 3 0 0 0 7 31 MAPK7:single_exon:E5 0.666667 686 MAPK7:exon_block:E4-E5 1.000000 1765 MAPK7:boundary_CDS_coverage:after_E3 1.000000 2050 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPK8IP3 ENST00000610761.2 19 15 7 0 4 32 181 MAPK8IP3:single_exon:E1 0.315789 463 MAPK8IP3:exon_block:E1-E2 0.315789 584 MAPK8IP3:boundary_CDS_coverage:after_E1 0.736842 3693 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPKAPK3 ENST00000621469.5 1 1 0 0 0 11 55 MAPKAPK3:single_exon:E6 1.000000 124 MAPKAPK3:exon_block:E6-E7 1.000000 200 MAPKAPK3:boundary_CDS_coverage:after_E5 1.000000 642 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPKAPK5 ENST00000550735.7 6 6 1 0 0 14 73 MAPKAPK5:single_exon:E4 0.166667 98 MAPKAPK5:exon_block:E9-E13 0.666667 661 MAPKAPK5:boundary_CDS_coverage:after_E3 1.000000 1227 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPKBP1 ENST00000457542.7 14 8 6 0 6 31 175 MAPKBP1:single_exon:E11 0.142857 147 MAPKBP1:exon_block:E18-E22 0.285714 501 MAPKBP1:boundary_CDS_coverage:after_E6 1.000000 4026 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPRE2 ENST00000300249.10 7 7 1 0 0 7 31 MAPRE2:single_exon:E4 0.428571 214 MAPRE2:exon_block:E2-E4 1.000000 488 MAPRE2:boundary_CDS_coverage:after_E1 1.000000 859 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAPT ENST00000262410.10 38 30 11 0 8 13 67 MAPT:single_exon:E10 0.368421 93 MAPT:exon_block:E9-E13 0.842105 4933 MAPT:boundary_CDS_coverage:after_E1 1.000000 2499 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MARCHF6 ENST00000274140.10 1 0 0 0 1 26 145 MARCHF6:single_exon:E9 0.000000 33 MARCHF6:exon_block:E9-E10 0.000000 85 MARCHF6:boundary_CDS_coverage:after_E1 1.000000 2711 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MARCKS ENST00000612661.2 1 1 0 0 0 2 4 MARCKS:single_exon:E2 1.000000 3793 MARCKS:exon_block:E1-E2 1.000000 4296 MARCKS:boundary_CDS_coverage:after_E1 1.000000 894 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MARK2 ENST00000402010.8 29 21 12 0 8 19 103 MARK2:single_exon:E16 0.172414 258 MARK2:exon_block:E15-E19 0.448276 2636 MARK2:boundary_CDS_coverage:after_E1 1.000000 2310 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MARK3 ENST00000429436.7 1 1 0 0 0 18 97 MARK3:single_exon:E15 1.000000 258 MARK3:exon_block:E15-E16 1.000000 285 MARK3:boundary_CDS_coverage:after_E14 1.000000 673 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MARS1 ENST00000262027.10 7 7 1 0 0 21 115 MARS1:single_exon:E19 0.142857 72 MARS1:exon_block:E9-E13 0.428571 748 MARS1:boundary_CDS_coverage:after_E2 1.000000 2500 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MARS2 ENST00000282276.8 6 5 0 1 0 1 1 MARS2:single_exon:E1 1.000000 3027 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MARVELD2 ENST00000325631.10 39 35 8 0 4 7 31 MARVELD2:single_exon:E2 0.564103 1161 MARVELD2:exon_block:E2-E6 0.974359 1569 MARVELD2:boundary_CDS_coverage:after_E1 1.000000 1674 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MASP1 ENST00000296280.11 23 19 2 0 1 11 55 MASP1:single_exon:E11 0.434783 2486 MASP1:exon_block:E7-E11 0.608696 2897 MASP1:boundary_CDS_coverage:after_E2 1.000000 1947 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MASP2 ENST00000400897.8 4 3 0 0 0 11 55 MASP2:single_exon:E9 0.250000 135 MASP2:exon_block:E5-E9 0.500000 678 MASP2:boundary_CDS_coverage:after_E4 1.000000 1514 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAST1 ENST00000251472.9 15 15 1 0 0 26 145 MAST1:single_exon:E8 0.266667 102 MAST1:exon_block:E12-E15 0.466667 647 MAST1:boundary_CDS_coverage:after_E4 1.000000 4383 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAST3 ENST00000687212.1 8 8 1 0 0 28 157 MAST3:single_exon:E16 0.250000 133 MAST3:exon_block:E14-E17 0.750000 647 MAST3:boundary_CDS_coverage:after_E5 1.000000 3721 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAST4 ENST00000403625.7 3 3 0 0 0 29 163 MAST4:single_exon:E21 0.333333 113 MAST4:exon_block:E21-E25 0.666667 908 MAST4:boundary_CDS_coverage:after_E20 1.000000 5252 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAT1A ENST00000372213.8 41 38 12 0 3 9 43 MAT1A:single_exon:E7 0.341463 183 MAT1A:exon_block:E4-E8 0.804878 793 MAT1A:boundary_CDS_coverage:after_E1 1.000000 1094 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAT2A ENST00000306434.8 1 1 0 0 0 9 43 MAT2A:single_exon:E8 1.000000 134 MAT2A:exon_block:E7-E8 1.000000 317 MAT2A:boundary_CDS_coverage:after_E7 1.000000 234 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MATN3 ENST00000407540.8 12 11 1 0 1 8 37 MATN3:single_exon:E2 0.666667 567 MATN3:exon_block:E1-E3 0.916667 953 MATN3:boundary_CDS_coverage:after_E1 0.833333 1235 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MATN4 ENST00000372756.6 1 1 0 0 0 10 49 MATN4:single_exon:E3 1.000000 570 MATN4:exon_block:E2-E3 1.000000 677 MATN4:boundary_CDS_coverage:after_E2 1.000000 1670 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MATR3 ENST00000394805.8 1 1 0 0 0 15 79 MATR3:single_exon:E2 1.000000 1089 MATR3:exon_block:E2-E3 1.000000 1151 MATR3:boundary_CDS_coverage:after_E1 1.000000 2541 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAU2 ENST00000262815.13 12 12 0 0 0 19 103 MAU2:single_exon:E9 0.250000 91 MAU2:exon_block:E9-E12 0.500000 339 MAU2:boundary_CDS_coverage:after_E3 0.916667 1479 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAX ENST00000358664.9 51 39 18 0 12 5 19 MAX:single_exon:E4 0.450980 124 MAX:exon_block:E1-E5 1.000000 2010 MAX:boundary_CDS_coverage:after_E1 0.901961 444 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MAZ ENST00000322945.11 2 0 1 0 1 5 19 MAZ:single_exon:E3 0.500000 64 MAZ:exon_block:E3-E4 0.500000 236 MAZ:boundary_CDS_coverage:after_E3 1.000000 324 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MB ENST00000397326.7 1 1 0 0 0 3 8 MB:single_exon:E2 1.000000 223 MB:exon_block:E1-E2 1.000000 390 MB:boundary_CDS_coverage:after_E1 1.000000 367 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MBD4 ENST00000429544.7 123 106 22 0 17 8 37 MBD4:single_exon:E3 0.414634 848 MBD4:exon_block:E2-E6 0.837398 1439 MBD4:boundary_CDS_coverage:after_E1 0.951220 1618 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MBD5 ENST00000642680.2 119 110 10 0 9 14 73 MBD5:single_exon:E8 0.453782 2121 MBD5:exon_block:E7-E11 0.840336 4746 MBD5:boundary_CDS_coverage:after_E1 1.000000 5181 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MBLAC1 ENST00000398075.4 1 0 1 0 1 2 4 MBLAC1:single_exon:E2 1.000000 1128 MBLAC1:exon_block:E1-E2 1.000000 1226 MBLAC1:boundary_CDS_coverage:after_E1 1.000000 798 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MBOAT7 ENST00000245615.6 26 22 6 0 4 8 37 MBOAT7:single_exon:E6 0.461538 361 MBOAT7:exon_block:E4-E8 0.884615 1842 MBOAT7:boundary_CDS_coverage:after_E1 1.000000 1416 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MBTPS1 ENST00000343411.8 24 20 7 1 3 23 127 MBTPS1:single_exon:E3 0.125000 258 MBTPS1:exon_block:E5-E9 0.291667 509 MBTPS1:boundary_CDS_coverage:after_E2 1.000000 2993 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MBTPS2 ENST00000379484.10 17 15 5 0 2 11 55 MBTPS2:single_exon:E11 0.411765 2991 MBTPS2:exon_block:E7-E11 0.647059 3539 MBTPS2:boundary_CDS_coverage:after_E2 1.000000 1333 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MC1R ENST00000555147.2 2 2 0 0 0 1 1 MC1R:single_exon:E1 1.000000 2111 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MC2R ENST00000327606.4 33 33 0 0 0 2 4 MC2R:single_exon:E2 1.000000 3603 MC2R:exon_block:E1-E2 1.000000 3652 MC2R:boundary_CDS_coverage:after_E1 1.000000 891 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MC4R ENST00000299766.5 59 59 0 0 0 1 1 MC4R:single_exon:E1 1.000000 1714 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCAT ENST00000290429.11 2 1 1 0 1 4 13 MCAT:single_exon:E2 0.500000 88 MCAT:exon_block:E2-E4 1.000000 1584 MCAT:boundary_CDS_coverage:after_E1 1.000000 747 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCC ENST00000408903.7 2 2 1 0 0 19 103 MCC:single_exon:E17 0.500000 101 MCC:exon_block:E14-E17 1.000000 727 MCC:boundary_CDS_coverage:after_E13 1.000000 1028 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCCC1 ENST00000265594.9 203 157 82 0 46 19 103 MCCC1:single_exon:E11 0.103448 184 MCCC1:exon_block:E11-E15 0.339901 648 MCCC1:boundary_CDS_coverage:after_E1 0.985222 2086 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCCC2 ENST00000340941.11 197 148 75 1 48 17 91 MCCC2:single_exon:E6 0.116751 113 MCCC2:exon_block:E4-E8 0.395939 522 MCCC2:boundary_CDS_coverage:after_E1 0.949239 1560 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCEE ENST00000244217.6 9 5 4 0 4 3 8 MCEE:single_exon:E2 0.555556 338 MCEE:exon_block:E1-E2 0.888889 388 MCEE:boundary_CDS_coverage:after_E1 0.888889 488 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCFD2 ENST00000319466.9 16 9 2 1 2 4 13 MCFD2:single_exon:E4 0.312500 3721 MCFD2:exon_block:E2-E4 0.750000 4036 MCFD2:boundary_CDS_coverage:after_E1 0.750000 438 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCIDAS ENST00000513312.3 17 13 4 0 4 7 31 MCIDAS:single_exon:E6 0.235294 111 MCIDAS:exon_block:E3-E7 0.764706 1743 MCIDAS:boundary_CDS_coverage:after_E1 0.941176 1035 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCM10 ENST00000378714.8 4 3 2 0 1 20 109 MCM10:single_exon:E13 0.250000 118 MCM10:exon_block:E10-E13 0.500000 530 MCM10:boundary_CDS_coverage:after_E2 1.000000 2615 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCM2 ENST00000265056.12 2 1 1 0 1 16 85 MCM2:single_exon:E12 0.500000 113 MCM2:exon_block:E11-E12 0.500000 240 MCM2:boundary_CDS_coverage:after_E5 1.000000 1819 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCM3AP ENST00000291688.6 107 91 28 0 16 28 157 MCM3AP:single_exon:E1 0.261682 1544 MCM3AP:exon_block:E1-E5 0.373832 2183 MCM3AP:boundary_CDS_coverage:after_E1 0.747664 4721 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCM4 ENST00000649973.1 2 1 1 0 1 17 91 MCM4:single_exon:E3 1.000000 165 MCM4:exon_block:E2-E3 1.000000 249 MCM4:boundary_CDS_coverage:after_E2 1.000000 2519 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCM5 ENST00000216122.9 1 1 0 0 0 17 91 MCM5:single_exon:E11 1.000000 66 MCM5:exon_block:E10-E11 1.000000 210 MCM5:boundary_CDS_coverage:after_E10 1.000000 855 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCM7 ENST00000303887.10 5 5 0 0 0 15 79 MCM7:single_exon:E12 0.200000 84 MCM7:exon_block:E3-E7 0.600000 759 MCM7:boundary_CDS_coverage:after_E2 1.000000 2046 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCM8 ENST00000610722.4 14 10 8 0 4 19 103 MCM8:single_exon:E5 0.214286 150 MCM8:exon_block:E13-E16 0.571429 768 MCM8:boundary_CDS_coverage:after_E3 1.000000 2267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCM9 ENST00000619706.5 10 6 4 0 4 14 73 MCM9:single_exon:E11 0.300000 204 MCM9:exon_block:E9-E11 0.500000 582 MCM9:boundary_CDS_coverage:after_E1 1.000000 3429 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCMDC2 ENST00000422365.7 3 3 1 0 0 15 79 MCMDC2:single_exon:E14 0.333333 110 MCMDC2:exon_block:E11-E14 1.000000 600 MCMDC2:boundary_CDS_coverage:after_E10 1.000000 764 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCOLN1 ENST00000264079.11 129 92 45 0 35 14 73 MCOLN1:single_exon:E2 0.147287 206 MCOLN1:exon_block:E2-E6 0.488372 746 MCOLN1:boundary_CDS_coverage:after_E1 0.968992 1709 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCPH1 ENST00000344683.10 106 81 36 0 25 14 73 MCPH1:single_exon:E8 0.254717 1155 MCPH1:exon_block:E4-E8 0.518868 1592 MCPH1:boundary_CDS_coverage:after_E1 1.000000 2483 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCTS1 ENST00000371317.10 3 3 1 0 0 6 25 MCTS1:single_exon:E3 0.666667 98 MCTS1:exon_block:E2-E3 1.000000 251 MCTS1:boundary_CDS_coverage:after_E2 1.000000 379 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MCUR1 ENST00000379170.9 1 1 0 0 0 9 43 MCUR1:single_exon:E6 1.000000 72 MCUR1:exon_block:E5-E6 1.000000 114 MCUR1:boundary_CDS_coverage:after_E5 1.000000 294 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MDC1 ENST00000376406.8 3 3 1 0 0 15 79 MDC1:single_exon:E11 0.333333 120 MDC1:exon_block:E11-E13 0.666667 429 MDC1:boundary_CDS_coverage:after_E1 1.000000 6267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MDFIC ENST00000393486.6 5 5 0 0 0 5 19 MDFIC:single_exon:E4 0.600000 276 MDFIC:exon_block:E3-E5 1.000000 4629 MDFIC:boundary_CDS_coverage:after_E2 1.000000 644 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MDGA2 ENST00000399232.8 1 1 1 0 0 17 91 MDGA2:single_exon:E1 1.000000 1089 MDGA2:exon_block:E1-E2 1.000000 1229 MDGA2:boundary_CDS_coverage:after_E1 1.000000 2795 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MDH1 ENST00000233114.13 1 1 0 0 0 9 43 MDH1:single_exon:E4 1.000000 176 MDH1:exon_block:E3-E4 1.000000 273 MDH1:boundary_CDS_coverage:after_E3 1.000000 803 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MDH2 ENST00000315758.10 20 13 9 0 7 9 43 MDH2:single_exon:E6 0.350000 78 MDH2:exon_block:E2-E6 0.850000 567 MDH2:boundary_CDS_coverage:after_E1 1.000000 948 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MDM2 ENST00000258149.11 1 0 0 1 0 11 55 MDM2:single_exon:E11 1.000000 6271 MDM2:exon_block:E10-E11 1.000000 6349 MDM2:boundary_CDS_coverage:after_E10 1.000000 573 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ME2 ENST00000321341.11 1 1 0 0 0 16 85 ME2:single_exon:E13 1.000000 103 ME2:exon_block:E13-E14 1.000000 174 ME2:boundary_CDS_coverage:after_E12 1.000000 438 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEA1 ENST00000244711.4 1 0 0 0 0 4 13 MEA1:single_exon:E3 0.000000 103 MEA1:exon_block:E2-E3 0.000000 378 MEA1:boundary_CDS_coverage:after_E3 1.000000 149 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MECOM ENST00000651503.2 39 33 8 0 6 17 91 MECOM:single_exon:E12 0.282051 78 MECOM:exon_block:E9-E13 0.589744 530 MECOM:boundary_CDS_coverage:after_E1 1.000000 3680 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MECP2 ENST00000453960.7 783 734 41 32 17 3 8 MECP2:single_exon:E3 0.814815 9878 MECP2:exon_block:E1-E3 0.997446 10343 MECP2:boundary_CDS_coverage:after_E1 0.973180 1432 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MECR ENST00000263702.11 30 22 12 0 8 10 49 MECR:single_exon:E8 0.200000 61 MECR:exon_block:E4-E8 0.633333 485 MECR:boundary_CDS_coverage:after_E1 0.866667 943 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED11 ENST00000293777.6 1 1 0 0 0 3 8 MED11:single_exon:E3 1.000000 558 MED11:exon_block:E2-E3 1.000000 689 MED11:boundary_CDS_coverage:after_E2 1.000000 135 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED12 ENST00000374080.8 90 76 25 0 14 45 259 MED12:single_exon:E37 0.077778 375 MED12:exon_block:E25-E29 0.188889 644 MED12:boundary_CDS_coverage:after_E1 0.988889 6432 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED12L ENST00000687756.1 35 22 12 0 13 45 259 MED12L:single_exon:E32 0.085714 112 MED12L:exon_block:E24-E28 0.200000 726 MED12L:boundary_CDS_coverage:after_E3 1.000000 6336 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED13 ENST00000397786.7 66 56 10 0 10 30 169 MED13:single_exon:E14 0.090909 215 MED13:exon_block:E16-E20 0.257576 1956 MED13:boundary_CDS_coverage:after_E1 0.984848 6456 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED13L ENST00000281928.9 284 250 54 0 34 31 175 MED13L:single_exon:E17 0.105634 938 MED13L:exon_block:E17-E21 0.274648 1959 MED13L:boundary_CDS_coverage:after_E1 0.978873 6558 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED16 ENST00000325464.6 16 15 4 0 1 16 85 MED16:single_exon:E12 0.187500 193 MED16:exon_block:E3-E7 0.500000 972 MED16:boundary_CDS_coverage:after_E2 1.000000 2462 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED17 ENST00000251871.9 82 62 29 0 20 12 61 MED17:single_exon:E3 0.146341 220 MED17:exon_block:E3-E7 0.475610 726 MED17:boundary_CDS_coverage:after_E1 0.926829 1703 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED23 ENST00000368068.8 146 20 5 0 2 29 163 MED23:single_exon:E7 0.013699 102 MED23:exon_block:E6-E10 0.041096 480 MED23:boundary_CDS_coverage:after_E4 1.000000 3820 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED24 ENST00000394128.7 2 2 0 0 0 26 145 MED24:single_exon:E13 0.500000 112 MED24:exon_block:E12-E13 0.500000 199 MED24:boundary_CDS_coverage:after_E12 1.000000 1813 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED25 ENST00000312865.10 7 6 1 0 1 18 97 MED25:single_exon:E1 0.285714 187 MED25:exon_block:E5-E8 0.428571 503 MED25:boundary_CDS_coverage:after_E4 0.714286 1837 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED27 ENST00000292035.10 3 2 1 0 1 8 37 MED27:single_exon:E6 0.333333 42 MED27:exon_block:E3-E7 1.000000 453 MED27:boundary_CDS_coverage:after_E2 1.000000 585 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MED29 ENST00000315588.11 1 1 1 0 0 4 13 MED29:single_exon:E3 1.000000 85 MED29:exon_block:E2-E3 1.000000 144 MED29:boundary_CDS_coverage:after_E2 1.000000 325 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEF2A ENST00000557942.6 3 3 0 0 0 12 61 MEF2A:single_exon:E8 0.666667 188 MEF2A:exon_block:E8-E12 1.000000 4565 MEF2A:boundary_CDS_coverage:after_E7 1.000000 845 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEF2C ENST00000504921.7 118 87 40 4 26 11 55 MEF2C:single_exon:E3 0.364407 204 MEF2C:exon_block:E2-E6 0.686441 779 MEF2C:boundary_CDS_coverage:after_E1 0.991525 1419 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEFV ENST00000219596.6 21 21 0 0 0 10 49 MEFV:single_exon:E10 0.476190 1668 MEFV:exon_block:E6-E10 0.523810 1873 MEFV:boundary_CDS_coverage:after_E1 0.904762 2066 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEGF10 ENST00000503335.7 62 43 21 0 19 25 139 MEGF10:single_exon:E16 0.080645 129 MEGF10:exon_block:E3-E7 0.274194 664 MEGF10:boundary_CDS_coverage:after_E1 1.000000 3420 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEGF8 ENST00000251268.11 43 34 14 0 9 42 241 MEGF8:single_exon:E42 0.116279 3259 MEGF8:exon_block:E38-E42 0.209302 3887 MEGF8:boundary_CDS_coverage:after_E1 0.976744 8348 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEI1 ENST00000401548.8 9 5 5 0 4 31 175 MEI1:single_exon:E10 0.222222 100 MEI1:exon_block:E9-E13 0.444444 559 MEI1:boundary_CDS_coverage:after_E8 1.000000 2843 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEIOB ENST00000325962.9 10 7 5 0 3 14 73 MEIOB:single_exon:E12 0.500000 184 MEIOB:exon_block:E9-E12 0.800000 536 MEIOB:boundary_CDS_coverage:after_E3 1.000000 1286 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEIS2 ENST00000561208.6 43 37 14 0 6 12 61 MEIS2:single_exon:E10 0.255814 59 MEIS2:exon_block:E6-E10 0.860465 547 MEIS2:boundary_CDS_coverage:after_E1 1.000000 1419 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEN1 ENST00000450708.7 665 589 135 4 71 10 49 MEN1:single_exon:E2 0.258647 468 MEN1:exon_block:E2-E6 0.530827 935 MEN1:boundary_CDS_coverage:after_E1 1.000000 1830 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEOX1 ENST00000318579.9 7 7 0 0 0 3 8 MEOX1:single_exon:E1 0.714286 857 MEOX1:exon_block:E1-E3 1.000000 2674 MEOX1:boundary_CDS_coverage:after_E1 0.285714 293 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MERTK ENST00000295408.9 121 89 49 0 32 19 103 MERTK:single_exon:E17 0.123967 160 MERTK:exon_block:E13-E17 0.330579 563 MERTK:boundary_CDS_coverage:after_E1 0.983471 2936 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MESD ENST00000261758.6 8 8 0 0 0 3 8 MESD:single_exon:E3 0.750000 3726 MESD:exon_block:E1-E3 1.000000 4200 MESD:boundary_CDS_coverage:after_E1 0.875000 489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MESP2 ENST00000341735.5 77 76 0 1 0 2 4 MESP2:single_exon:E1 0.974026 950 MESP2:exon_block:E1-E2 1.000000 1640 MESP2:boundary_CDS_coverage:after_E1 0.025974 267 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MEST ENST00000223215.10 1 1 0 0 0 12 61 MEST:single_exon:E7 1.000000 41 MEST:exon_block:E6-E7 1.000000 100 MEST:boundary_CDS_coverage:after_E6 1.000000 470 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MET ENST00000397752.8 13 13 0 0 0 21 115 MET:single_exon:E19 0.461538 166 MET:exon_block:E16-E19 0.846154 539 MET:boundary_CDS_coverage:after_E10 1.000000 1806 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true METAP1 ENST00000296411.11 1 1 0 0 0 11 55 METAP1:single_exon:E9 1.000000 144 METAP1:exon_block:E9-E10 1.000000 210 METAP1:boundary_CDS_coverage:after_E8 1.000000 371 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true METTL23 ENST00000341249.11 20 17 6 0 3 5 19 METTL23:single_exon:E3 0.700000 238 METTL23:exon_block:E3-E5 1.000000 683 METTL23:boundary_CDS_coverage:after_E2 1.000000 486 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true METTL4 ENST00000574538.2 1 0 1 0 1 9 43 METTL4:single_exon:E4 1.000000 370 METTL4:exon_block:E3-E4 1.000000 433 METTL4:boundary_CDS_coverage:after_E4 1.000000 587 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true METTL5 ENST00000260953.10 9 3 6 0 6 7 31 METTL5:single_exon:E6 0.333333 50 METTL5:exon_block:E2-E6 1.000000 482 METTL5:boundary_CDS_coverage:after_E1 1.000000 518 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true METTL8 ENST00000375258.9 7 0 0 0 0 10 49 METTL8:single_exon:E5 0.000000 50 METTL8:exon_block:E5-E6 0.000000 114 METTL8:boundary_CDS_coverage:after_E9 0.000000 188 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MFAP5 ENST00000359478.7 3 2 2 0 1 10 49 MFAP5:single_exon:E7 0.333333 30 MFAP5:exon_block:E7-E8 0.666667 118 MFAP5:boundary_CDS_coverage:after_E2 1.000000 461 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MFF ENST00000304593.14 14 7 4 0 7 9 43 MFF:single_exon:E3 0.285714 221 MFF:exon_block:E3-E5 0.571429 480 MFF:boundary_CDS_coverage:after_E1 1.000000 873 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MFN2 ENST00000235329.10 195 178 40 0 17 19 103 MFN2:single_exon:E7 0.153846 109 MFN2:exon_block:E4-E8 0.528205 641 MFN2:boundary_CDS_coverage:after_E1 1.000000 2271 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MFRP ENST00000619721.6 70 51 17 6 13 15 77 MFRP:single_exon:E5 0.242857 214 MFRP:exon_block:E5-E9 0.557143 697 MFRP:boundary_CDS_coverage:after_E1 0.985714 1683 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MFSD11 ENST00000685175.1 3 0 0 0 0 13 67 MFSD11:single_exon:E8 0.000000 41 MFSD11:exon_block:E8-E9 0.000000 107 MFSD11:boundary_CDS_coverage:after_E12 0.000000 162 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MFSD2A ENST00000372811.10 8 6 4 0 2 14 73 MFSD2A:single_exon:E4 0.250000 124 MFSD2A:exon_block:E4-E7 0.500000 452 MFSD2A:boundary_CDS_coverage:after_E2 1.000000 1362 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MFSD8 ENST00000641686.2 156 108 61 0 48 12 61 MFSD8:single_exon:E11 0.134615 248 MFSD8:exon_block:E7-E11 0.525641 652 MFSD8:boundary_CDS_coverage:after_E1 0.942308 1492 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MGA ENST00000703841.1 4 4 0 0 0 24 133 MGA:single_exon:E8 0.500000 659 MGA:exon_block:E8-E11 0.750000 1418 MGA:boundary_CDS_coverage:after_E2 1.000000 8278 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MGAT2 ENST00000305386.4 12 12 0 0 0 1 1 MGAT2:single_exon:E1 1.000000 2683 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MGME1 ENST00000377710.10 13 13 0 0 0 5 19 MGME1:single_exon:E2 0.692308 570 MGME1:exon_block:E2-E3 1.000000 790 MGME1:boundary_CDS_coverage:after_E1 1.000000 1032 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MGP ENST00000539261.6 5 2 4 0 3 4 13 MGP:single_exon:E2 0.800000 33 MGP:exon_block:E1-E2 1.000000 157 MGP:boundary_CDS_coverage:after_E1 0.800000 248 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MIA3 ENST00000344922.10 3 1 3 0 2 28 157 MIA3:single_exon:E8 0.333333 22 MIA3:exon_block:E8-E9 0.666667 111 MIA3:boundary_CDS_coverage:after_E3 1.000000 5367 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MIB1 ENST00000261537.7 25 20 8 0 5 21 115 MIB1:single_exon:E9 0.120000 134 MIB1:exon_block:E16-E20 0.400000 669 MIB1:boundary_CDS_coverage:after_E1 0.920000 2789 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MICAL1 ENST00000358807.8 4 3 1 0 1 25 139 MICAL1:single_exon:E21 0.250000 114 MICAL1:exon_block:E21-E25 0.500000 660 MICAL1:boundary_CDS_coverage:after_E1 1.000000 3201 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MICALL2 ENST00000297508.8 1 1 0 0 0 17 91 MICALL2:single_exon:E6 1.000000 777 MICALL2:exon_block:E5-E6 1.000000 893 MICALL2:boundary_CDS_coverage:after_E5 1.000000 2071 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MICOS13 ENST00000309324.9 5 3 2 0 2 4 13 MICOS13:single_exon:E2 0.800000 178 MICOS13:exon_block:E2-E4 1.000000 457 MICOS13:boundary_CDS_coverage:after_E1 1.000000 325 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MICU1 ENST00000361114.10 41 25 18 0 16 12 61 MICU1:single_exon:E4 0.219512 163 MICU1:exon_block:E2-E6 0.634146 653 MICU1:boundary_CDS_coverage:after_E1 1.000000 1428 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MID1 ENST00000317552.9 70 58 17 0 12 10 49 MID1:single_exon:E10 0.257143 4161 MID1:exon_block:E6-E10 0.628571 4803 MID1:boundary_CDS_coverage:after_E1 1.000000 2001 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MID2 ENST00000262843.11 4 4 2 0 0 10 49 MID2:single_exon:E5 0.250000 149 MID2:exon_block:E5-E8 0.750000 673 MID2:boundary_CDS_coverage:after_E4 1.000000 1281 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MIEF1 ENST00000325301.7 2 2 0 0 0 6 25 MIEF1:single_exon:E5 0.500000 263 MIEF1:exon_block:E5-E6 1.000000 4879 MIEF1:boundary_CDS_coverage:after_E4 1.000000 1067 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MIEF2 ENST00000323019.9 1 1 0 0 0 4 13 MIEF2:single_exon:E3 1.000000 163 MIEF2:exon_block:E2-E3 1.000000 317 MIEF2:boundary_CDS_coverage:after_E2 1.000000 1215 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MILR1 ENST00000619286.5 33 0 0 0 0 10 48 MILR1:single_exon:E2 0.000000 42 MILR1:exon_block:E7-E8 0.000000 126 MILR1:boundary_CDS_coverage:after_E8 1.000000 50 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MINAR2 ENST00000564719.2 3 3 1 0 0 3 8 MINAR2:single_exon:E2 0.333333 228 MINAR2:exon_block:E1-E3 1.000000 2339 MINAR2:boundary_CDS_coverage:after_E2 0.666667 177 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MINK1 ENST00000355280.11 1 0 0 0 0 32 181 MINK1:single_exon:E8 0.000000 55 MINK1:exon_block:E2-E3 0.000000 123 MINK1:boundary_CDS_coverage:after_E31 1.000000 81 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MINPP1 ENST00000371996.9 16 16 1 0 0 5 19 MINPP1:single_exon:E1 0.437500 660 MINPP1:exon_block:E1-E5 1.000000 2470 MINPP1:boundary_CDS_coverage:after_E1 0.562500 824 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MIP ENST00000652304.1 23 19 8 0 4 4 13 MIP:single_exon:E3 0.304348 81 MIP:exon_block:E1-E4 1.000000 2614 MIP:boundary_CDS_coverage:after_E1 0.913043 429 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MIPEP ENST00000382172.4 18 12 11 0 6 19 103 MIPEP:single_exon:E17 0.166667 122 MIPEP:exon_block:E7-E11 0.388889 474 MIPEP:boundary_CDS_coverage:after_E1 1.000000 1950 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MITD1 ENST00000289359.6 7 0 0 0 0 7 31 MITD1:single_exon:E6 0.000000 61 MITD1:exon_block:E5-E6 0.000000 177 MITD1:boundary_CDS_coverage:after_E6 1.000000 93 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MITF ENST00000352241.9 137 112 53 0 25 10 49 MITF:single_exon:E8 0.189781 76 MITF:exon_block:E6-E10 0.781022 3903 MITF:boundary_CDS_coverage:after_E2 1.000000 1224 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MKKS ENST00000347364.7 124 118 7 0 6 6 25 MKKS:single_exon:E3 0.653226 1402 MKKS:exon_block:E3-E6 0.991935 6368 MKKS:boundary_CDS_coverage:after_E1 1.000000 1710 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MKRN3 ENST00000314520.6 11 11 0 0 0 1 1 MKRN3:single_exon:E1 1.000000 2371 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MKS1 ENST00000393119.7 181 126 84 0 55 18 97 MKS1:single_exon:E2 0.104972 110 MKS1:exon_block:E1-E5 0.353591 540 MKS1:boundary_CDS_coverage:after_E1 0.944751 1597 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MLC1 ENST00000311597.10 140 99 58 1 39 12 61 MLC1:single_exon:E5 0.178571 102 MLC1:exon_block:E2-E6 0.521429 584 MLC1:boundary_CDS_coverage:after_E1 0.992857 1131 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MLH1 ENST00000231790.8 1874 1532 603 9 331 19 103 MLH1:single_exon:E12 0.103522 371 MLH1:exon_block:E9-E13 0.313767 881 MLH1:boundary_CDS_coverage:after_E1 0.935966 2152 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MLH3 ENST00000355774.7 18 18 1 0 0 13 67 MLH3:single_exon:E2 0.833333 3343 MLH3:exon_block:E2-E6 0.944444 3706 MLH3:boundary_CDS_coverage:after_E1 1.000000 4359 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MLIP ENST00000502396.6 17 15 7 0 2 14 73 MLIP:single_exon:E3 0.294118 393 MLIP:exon_block:E3-E5 0.705882 2037 MLIP:boundary_CDS_coverage:after_E2 1.000000 2727 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MLLT1 ENST00000252674.9 1 1 1 0 0 12 61 MLLT1:single_exon:E10 1.000000 72 MLLT1:exon_block:E10-E11 1.000000 144 MLLT1:boundary_CDS_coverage:after_E9 1.000000 270 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MLPH ENST00000264605.8 9 6 5 0 3 16 85 MLPH:single_exon:E2 0.333333 134 MLPH:exon_block:E2-E3 0.666667 356 MLPH:boundary_CDS_coverage:after_E1 1.000000 1800 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MLX ENST00000435881.7 2 0 0 2 0 8 37 MLX:single_exon:E8 1.000000 1657 MLX:exon_block:E7-E8 1.000000 1859 MLX:boundary_CDS_coverage:after_E7 1.000000 54 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MLYCD ENST00000262430.6 68 58 15 0 10 5 19 MLYCD:single_exon:E1 0.470588 558 MLYCD:exon_block:E1-E5 0.970588 13054 MLYCD:boundary_CDS_coverage:after_E1 0.544118 951 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMAA ENST00000649156.2 139 124 32 0 15 7 31 MMAA:single_exon:E2 0.309353 504 MMAA:exon_block:E2-E6 0.820144 1034 MMAA:boundary_CDS_coverage:after_E1 1.000000 1254 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMAB ENST00000545712.7 108 81 47 0 27 9 43 MMAB:single_exon:E7 0.361111 65 MMAB:exon_block:E3-E7 0.685185 388 MMAB:boundary_CDS_coverage:after_E1 0.851852 616 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMACHC ENST00000401061.9 178 157 45 3 18 4 13 MMACHC:single_exon:E4 0.494382 4587 MMACHC:exon_block:E1-E4 1.000000 5049 MMACHC:boundary_CDS_coverage:after_E1 0.921348 765 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMADHC ENST00000303319.10 70 53 23 0 17 8 37 MMADHC:single_exon:E4 0.242857 218 MMADHC:exon_block:E3-E7 0.885714 687 MMADHC:boundary_CDS_coverage:after_E2 1.000000 879 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MME ENST00000360490.7 102 75 39 0 27 23 127 MME:single_exon:E19 0.107843 134 MME:exon_block:E4-E8 0.323529 524 MME:boundary_CDS_coverage:after_E1 1.000000 2250 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMP13 ENST00000260302.8 30 21 10 0 9 10 49 MMP13:single_exon:E2 0.300000 242 MMP13:exon_block:E1-E5 0.666667 826 MMP13:boundary_CDS_coverage:after_E1 0.966667 1293 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMP14 ENST00000311852.11 2 2 0 0 0 10 49 MMP14:single_exon:E3 0.500000 123 MMP14:exon_block:E1-E3 1.000000 613 MMP14:boundary_CDS_coverage:after_E2 0.500000 1489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMP15 ENST00000219271.4 1 1 0 0 0 10 49 MMP15:single_exon:E6 1.000000 254 MMP15:exon_block:E6-E7 1.000000 393 MMP15:boundary_CDS_coverage:after_E5 1.000000 1097 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMP19 ENST00000322569.9 1 0 0 0 0 9 43 MMP19:single_exon:E2 0.000000 86 MMP19:exon_block:E2-E3 0.000000 217 MMP19:boundary_CDS_coverage:after_E8 0.000000 336 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMP2 ENST00000219070.9 29 26 4 0 3 13 67 MMP2:single_exon:E8 0.206897 156 MMP2:exon_block:E5-E9 0.586207 814 MMP2:boundary_CDS_coverage:after_E1 1.000000 1827 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMP20 ENST00000260228.3 11 9 2 0 2 10 49 MMP20:single_exon:E4 0.181818 126 MMP20:exon_block:E4-E8 0.636364 724 MMP20:boundary_CDS_coverage:after_E1 0.909091 1323 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMP21 ENST00000368808.3 23 23 1 0 0 7 31 MMP21:single_exon:E2 0.347826 535 MMP21:exon_block:E2-E6 0.956522 1248 MMP21:boundary_CDS_coverage:after_E1 1.000000 1545 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMP9 ENST00000372330.3 3 3 1 0 0 13 67 MMP9:single_exon:E6 0.666667 174 MMP9:exon_block:E2-E6 1.000000 859 MMP9:boundary_CDS_coverage:after_E1 1.000000 1983 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MMUT ENST00000274813.4 408 360 81 0 48 13 67 MMUT:single_exon:E3 0.188725 368 MMUT:exon_block:E2-E6 0.639706 1371 MMUT:boundary_CDS_coverage:after_E1 1.000000 2250 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MN1 ENST00000302326.5 29 29 0 0 0 2 4 MN1:single_exon:E1 0.655172 4994 MN1:exon_block:E1-E2 1.000000 7814 MN1:boundary_CDS_coverage:after_E1 0.344828 179 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MNS1 ENST00000260453.4 8 8 2 0 0 10 49 MNS1:single_exon:E5 0.500000 230 MNS1:exon_block:E2-E6 1.000000 900 MNS1:boundary_CDS_coverage:after_E1 1.000000 1482 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MNX1 ENST00000252971.11 50 46 9 0 4 3 8 MNX1:single_exon:E1 0.600000 1004 MNX1:exon_block:E1-E3 1.000000 2185 MNX1:boundary_CDS_coverage:after_E1 0.400000 512 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MOCOS ENST00000261326.6 38 30 12 0 8 15 79 MOCOS:single_exon:E8 0.210526 462 MOCOS:exon_block:E4-E8 0.500000 1498 MOCOS:boundary_CDS_coverage:after_E1 0.973684 2522 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MOCS1 ENST00000340692.10 88 66 26 0 22 11 55 MOCS1:single_exon:E11 0.193182 2948 MOCS1:exon_block:E7-E11 0.488636 3341 MOCS1:boundary_CDS_coverage:after_E1 0.954545 1785 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MOCS2 ENST00000396954.8 50 28 9 18 4 7 31 MOCS2:single_exon:E4 0.240000 128 MOCS2:exon_block:E1-E5 0.860000 1053 MOCS2:boundary_CDS_coverage:after_E1 0.820000 564 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MOG ENST00000376917.8 1 1 0 0 0 8 37 MOG:single_exon:E2 1.000000 348 MOG:exon_block:E2-E3 1.000000 462 MOG:boundary_CDS_coverage:after_E1 1.000000 653 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MOGS ENST00000448666.7 38 37 1 0 1 4 13 MOGS:single_exon:E4 0.684211 1956 MOGS:exon_block:E1-E4 1.000000 2867 MOGS:boundary_CDS_coverage:after_E1 0.894737 2159 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MON1A ENST00000296473.8 1 1 0 0 0 6 25 MON1A:single_exon:E3 1.000000 486 MON1A:exon_block:E2-E3 1.000000 626 MON1A:boundary_CDS_coverage:after_E2 1.000000 1538 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MORC2 ENST00000397641.8 33 33 11 0 0 26 145 MORC2:single_exon:E14 0.272727 155 MORC2:exon_block:E5-E9 0.484848 598 MORC2:boundary_CDS_coverage:after_E1 0.969697 3028 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MOS ENST00000311923.1 8 8 0 0 0 1 1 MOS:single_exon:E1 1.000000 1041 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MOV10L1 ENST00000262794.10 4 2 2 0 2 27 151 MOV10L1:single_exon:E16 0.250000 109 MOV10L1:exon_block:E16-E18 0.500000 435 MOV10L1:boundary_CDS_coverage:after_E5 1.000000 2890 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPC1 ENST00000360961.11 6 6 0 0 0 5 19 MPC1:single_exon:E4 0.833333 133 MPC1:exon_block:E3-E4 1.000000 230 MPC1:boundary_CDS_coverage:after_E2 1.000000 252 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPDU1 ENST00000250124.11 14 11 5 0 3 7 31 MPDU1:single_exon:E4 0.214286 86 MPDU1:exon_block:E3-E7 0.785714 1236 MPDU1:boundary_CDS_coverage:after_E2 0.785714 572 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPDZ ENST00000319217.12 131 96 49 0 35 47 271 MPDZ:single_exon:E19 0.061069 168 MPDZ:exon_block:E18-E22 0.206107 890 MPDZ:boundary_CDS_coverage:after_E2 1.000000 6194 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPEG1 ENST00000361050.4 2 2 0 0 0 1 1 MPEG1:single_exon:E1 1.000000 4418 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPI ENST00000352410.9 147 120 40 1 26 8 37 MPI:single_exon:E7 0.197279 209 MPI:exon_block:E3-E7 0.714286 909 MPI:boundary_CDS_coverage:after_E1 0.972789 1253 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPIG6B ENST00000649779.1 10 10 0 0 0 6 25 MPIG6B:single_exon:E2 0.600000 348 MPIG6B:exon_block:E1-E5 1.000000 632 MPIG6B:boundary_CDS_coverage:after_E1 0.900000 662 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPL ENST00000372470.9 209 176 62 0 33 12 61 MPL:single_exon:E3 0.138756 179 MPL:exon_block:E3-E7 0.535885 953 MPL:boundary_CDS_coverage:after_E1 0.985646 1826 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPLKIP ENST00000306984.8 22 21 2 0 1 2 4 MPLKIP:single_exon:E1 0.772727 394 MPLKIP:exon_block:E1-E2 1.000000 7627 MPLKIP:boundary_CDS_coverage:after_E1 0.318182 198 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPO ENST00000225275.4 15 13 2 0 2 12 61 MPO:single_exon:E9 0.266667 256 MPO:exon_block:E6-E10 0.733333 1114 MPO:boundary_CDS_coverage:after_E2 1.000000 1987 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPP4 ENST00000409474.8 1 1 0 0 0 22 121 MPP4:single_exon:E11 1.000000 65 MPP4:exon_block:E11-E12 1.000000 83 MPP4:boundary_CDS_coverage:after_E10 1.000000 982 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPV17 ENST00000380044.6 91 65 48 1 24 8 37 MPV17:single_exon:E5 0.230769 96 MPV17:exon_block:E3-E7 0.813187 391 MPV17:boundary_CDS_coverage:after_E1 1.000000 528 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPZ ENST00000533357.5 197 176 41 1 20 6 25 MPZ:single_exon:E3 0.467005 214 MPZ:exon_block:E2-E6 0.959391 1821 MPZ:boundary_CDS_coverage:after_E1 0.964467 677 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MPZL2 ENST00000278937.7 16 13 5 0 3 6 24 MPZL2:single_exon:E3 0.437500 211 MPZL2:exon_block:E1-E4 1.000000 728 MPZL2:boundary_CDS_coverage:after_E1 0.937500 587 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRAP ENST00000303645.10 9 4 6 0 5 3 8 MRAP:single_exon:E1 0.888889 223 MRAP:exon_block:E1-E2 1.000000 323 MRAP:boundary_CDS_coverage:after_E1 0.666667 410 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRAS ENST00000423968.7 5 5 1 0 0 6 25 MRAS:single_exon:E3 0.400000 154 MRAS:exon_block:E2-E4 1.000000 465 MRAS:boundary_CDS_coverage:after_E1 1.000000 624 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRE11 ENST00000323929.8 185 127 79 0 58 20 109 MRE11:single_exon:E13 0.113514 174 MRE11:exon_block:E11-E15 0.372973 685 MRE11:boundary_CDS_coverage:after_E1 1.000000 2124 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRM2 ENST00000242257.14 2 1 1 0 1 3 8 MRM2:single_exon:E1 0.500000 44 MRM2:exon_block:E1-E3 1.000000 1704 MRM2:boundary_CDS_coverage:after_E1 1.000000 730 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPL12 ENST00000333676.8 1 1 0 0 0 5 19 MRPL12:single_exon:E5 1.000000 394 MRPL12:exon_block:E4-E5 1.000000 529 MRPL12:boundary_CDS_coverage:after_E4 1.000000 114 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPL3 ENST00000264995.8 5 3 2 0 2 10 49 MRPL3:single_exon:E6 0.200000 61 MRPL3:exon_block:E2-E6 0.600000 537 MRPL3:boundary_CDS_coverage:after_E1 0.800000 952 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPL39 ENST00000352957.9 4 2 1 0 2 10 49 MRPL39:single_exon:E8 0.500000 154 MRPL39:exon_block:E8-E9 0.500000 202 MRPL39:boundary_CDS_coverage:after_E1 1.000000 941 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPL42 ENST00000549982.6 1 0 1 0 1 6 25 MRPL42:single_exon:E4 1.000000 85 MRPL42:exon_block:E3-E4 1.000000 149 MRPL42:boundary_CDS_coverage:after_E4 1.000000 207 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPL44 ENST00000258383.4 5 5 1 0 0 4 13 MRPL44:single_exon:E2 0.600000 469 MRPL44:exon_block:E1-E3 1.000000 837 MRPL44:boundary_CDS_coverage:after_E1 0.800000 817 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPL49 ENST00000279242.7 6 6 0 0 0 4 13 MRPL49:single_exon:E3 0.500000 125 MRPL49:exon_block:E2-E4 1.000000 1922 MRPL49:boundary_CDS_coverage:after_E1 1.000000 420 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPL50 ENST00000374865.5 1 1 0 0 0 2 4 MRPL50:single_exon:E2 1.000000 3218 MRPL50:exon_block:E1-E2 1.000000 3336 MRPL50:boundary_CDS_coverage:after_E1 1.000000 382 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS14 ENST00000476371.1 1 1 0 0 0 3 8 MRPS14:single_exon:E3 1.000000 1894 MRPS14:exon_block:E2-E3 1.000000 2053 MRPS14:boundary_CDS_coverage:after_E2 1.000000 180 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS16 ENST00000372945.8 1 1 1 0 0 3 8 MRPS16:single_exon:E3 1.000000 2143 MRPS16:exon_block:E2-E3 1.000000 2404 MRPS16:boundary_CDS_coverage:after_E2 1.000000 137 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS2 ENST00000241600.10 3 2 1 0 1 4 13 MRPS2:single_exon:E4 1.000000 1130 MRPS2:exon_block:E3-E4 1.000000 1260 MRPS2:boundary_CDS_coverage:after_E3 1.000000 589 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS22 ENST00000680020.1 19 16 7 0 3 8 37 MRPS22:single_exon:E4 0.263158 144 MRPS22:exon_block:E3-E7 0.842105 648 MRPS22:boundary_CDS_coverage:after_E2 0.894737 741 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS23 ENST00000313608.13 1 1 0 0 0 5 19 MRPS23:single_exon:E2 1.000000 171 MRPS23:exon_block:E1-E2 1.000000 249 MRPS23:boundary_CDS_coverage:after_E1 1.000000 526 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS25 ENST00000253686.7 1 1 0 0 0 4 13 MRPS25:single_exon:E2 1.000000 107 MRPS25:exon_block:E2-E3 1.000000 195 MRPS25:boundary_CDS_coverage:after_E1 1.000000 385 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS28 ENST00000276585.9 1 1 0 0 0 3 8 MRPS28:single_exon:E2 1.000000 182 MRPS28:exon_block:E1-E2 1.000000 406 MRPS28:boundary_CDS_coverage:after_E1 1.000000 348 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS34 ENST00000397375.7 10 7 4 0 3 3 8 MRPS34:single_exon:E1 0.500000 336 MRPS34:exon_block:E1-E3 1.000000 998 MRPS34:boundary_CDS_coverage:after_E1 0.700000 333 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRPS7 ENST00000245539.11 1 1 0 0 0 5 19 MRPS7:single_exon:E4 1.000000 168 MRPS7:exon_block:E3-E4 1.000000 232 MRPS7:boundary_CDS_coverage:after_E3 1.000000 387 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRTFA ENST00000355630.10 1 1 0 0 0 15 79 MRTFA:single_exon:E13 1.000000 153 MRTFA:exon_block:E13-E14 1.000000 214 MRTFA:boundary_CDS_coverage:after_E12 1.000000 729 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MRTFB ENST00000571589.6 3 3 1 0 0 17 91 MRTFB:single_exon:E6 0.666667 76 MRTFB:exon_block:E5-E6 1.000000 132 MRTFB:boundary_CDS_coverage:after_E4 1.000000 3077 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSH2 ENST00000233146.7 2070 1776 455 13 278 16 85 MSH2:single_exon:E12 0.098551 246 MSH2:exon_block:E3-E7 0.360386 910 MSH2:boundary_CDS_coverage:after_E1 0.938647 2591 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSH3 ENST00000265081.7 593 501 165 0 92 24 133 MSH3:single_exon:E15 0.065767 169 MSH3:exon_block:E1-E5 0.281619 985 MSH3:boundary_CDS_coverage:after_E1 0.940978 3174 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSH4 ENST00000263187.4 15 14 3 0 1 20 109 MSH4:single_exon:E16 0.200000 119 MSH4:exon_block:E13-E17 0.533333 678 MSH4:boundary_CDS_coverage:after_E4 1.000000 2109 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSH5 ENST00000375750.9 7 6 1 0 1 25 139 MSH5:single_exon:E12 0.142857 63 MSH5:exon_block:E11-E12 0.285714 202 MSH5:boundary_CDS_coverage:after_E1 1.000000 2502 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSH6 ENST00000234420.11 2246 2092 232 6 115 10 49 MSH6:single_exon:E4 0.526714 2545 MSH6:exon_block:E4-E8 0.757792 3174 MSH6:boundary_CDS_coverage:after_E1 0.960819 3820 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSL2 ENST00000309993.3 12 12 0 0 0 2 4 MSL2:single_exon:E2 0.750000 3822 MSL2:exon_block:E1-E2 1.000000 5186 MSL2:boundary_CDS_coverage:after_E1 0.750000 1589 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSL3 ENST00000312196.10 38 28 14 0 10 13 67 MSL3:single_exon:E9 0.342105 263 MSL3:exon_block:E7-E11 0.842105 793 MSL3:boundary_CDS_coverage:after_E5 1.000000 1098 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSMO1 ENST00000261507.11 3 3 0 0 0 6 25 MSMO1:single_exon:E6 0.666667 1414 MSMO1:exon_block:E4-E6 1.000000 1696 MSMO1:boundary_CDS_coverage:after_E3 1.000000 475 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSN ENST00000360270.7 18 16 4 0 2 13 67 MSN:single_exon:E13 0.222222 2203 MSN:exon_block:E9-E13 0.666667 2813 MSN:boundary_CDS_coverage:after_E1 1.000000 1719 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSR1 ENST00000262101.10 8 6 4 0 2 10 49 MSR1:single_exon:E2 0.250000 107 MSR1:exon_block:E5-E8 0.625000 403 MSR1:boundary_CDS_coverage:after_E1 1.000000 1353 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSRB3 ENST00000308259.10 10 5 5 1 4 7 31 MSRB3:single_exon:E7 0.300000 3753 MSRB3:exon_block:E3-E7 0.800000 4067 MSRB3:boundary_CDS_coverage:after_E1 0.900000 555 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MST1R ENST00000296474.8 1 1 0 0 0 20 109 MST1R:single_exon:E3 1.000000 129 MST1R:exon_block:E3-E4 1.000000 300 MST1R:boundary_CDS_coverage:after_E2 1.000000 2781 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSTN ENST00000260950.5 1 0 1 0 1 3 8 MSTN:single_exon:E1 1.000000 506 MSTN:exon_block:E1-E2 1.000000 880 MSTN:boundary_CDS_coverage:after_E1 1.000000 752 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSTO1 ENST00000245564.8 17 14 5 0 3 14 73 MSTO1:single_exon:E11 0.235294 185 MSTO1:exon_block:E7-E11 0.647059 723 MSTO1:boundary_CDS_coverage:after_E1 0.823529 1626 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSX1 ENST00000382723.5 29 27 3 0 2 2 4 MSX1:single_exon:E2 0.551724 1236 MSX1:exon_block:E1-E2 1.000000 1940 MSX1:boundary_CDS_coverage:after_E1 0.620690 440 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MSX2 ENST00000239243.7 14 13 1 0 1 2 4 MSX2:single_exon:E2 0.785714 1738 MSX2:exon_block:E1-E2 1.000000 2195 MSX2:boundary_CDS_coverage:after_E1 0.785714 422 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTA3 ENST00000405094.2 1 1 0 0 0 17 91 MTA3:single_exon:E8 1.000000 100 MTA3:exon_block:E7-E8 1.000000 203 MTA3:boundary_CDS_coverage:after_E7 1.000000 1180 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTAP ENST00000644715.2 2 0 0 0 0 8 37 MTAP:single_exon:E3 0.000000 59 MTAP:exon_block:E2-E3 0.000000 146 MTAP:boundary_CDS_coverage:after_E7 1.000000 36 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTCL1 ENST00000695636.1 1 1 0 0 0 15 79 MTCL1:single_exon:E2 1.000000 225 MTCL1:exon_block:E2-E3 1.000000 384 MTCL1:boundary_CDS_coverage:after_E1 1.000000 4980 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTFMT ENST00000220058.9 32 29 4 0 3 9 43 MTFMT:single_exon:E1 0.250000 235 MTFMT:exon_block:E1-E5 0.687500 747 MTFMT:boundary_CDS_coverage:after_E1 0.750000 958 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTHFD1 ENST00000652337.1 40 28 15 0 12 28 156 MTHFD1:single_exon:E5 0.125000 137 MTHFD1:exon_block:E5-E9 0.400000 615 MTHFD1:boundary_CDS_coverage:after_E2 1.000000 2679 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTHFR ENST00000376590.9 200 165 56 2 33 12 61 MTHFR:single_exon:E6 0.120000 251 MTHFR:exon_block:E5-E9 0.510000 944 MTHFR:boundary_CDS_coverage:after_E1 1.000000 1968 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTHFS ENST00000258874.4 6 6 1 0 0 3 8 MTHFS:single_exon:E1 0.500000 143 MTHFS:exon_block:E1-E3 1.000000 2301 MTHFS:boundary_CDS_coverage:after_E1 0.500000 492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTIF2 ENST00000263629.9 2 2 0 0 0 16 85 MTIF2:single_exon:E9 0.500000 140 MTIF2:exon_block:E7-E9 1.000000 478 MTIF2:boundary_CDS_coverage:after_E6 1.000000 1678 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTM1 ENST00000370396.7 267 214 82 0 52 15 79 MTM1:single_exon:E11 0.123596 207 MTM1:exon_block:E8-E12 0.520599 825 MTM1:boundary_CDS_coverage:after_E1 0.996255 1809 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTMR10 ENST00000435680.6 26 0 0 0 0 16 85 MTMR10:single_exon:E2 0.000000 61 MTMR10:exon_block:E11-E12 0.000000 141 MTMR10:boundary_CDS_coverage:after_E15 1.000000 600 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTMR2 ENST00000346299.10 60 50 19 0 10 15 79 MTMR2:single_exon:E9 0.150000 189 MTMR2:exon_block:E9-E13 0.550000 789 MTMR2:boundary_CDS_coverage:after_E2 0.983333 1743 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTO1 ENST00000498286.6 68 64 13 0 4 12 61 MTO1:single_exon:E8 0.161765 205 MTO1:exon_block:E4-E8 0.529412 930 MTO1:boundary_CDS_coverage:after_E1 0.911765 1859 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTOR ENST00000361445.9 52 52 9 0 0 58 337 MTOR:single_exon:E30 0.173077 140 MTOR:exon_block:E27-E31 0.288462 626 MTOR:boundary_CDS_coverage:after_E2 1.000000 7485 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTPAP ENST00000263063.9 2 2 0 0 0 9 43 MTPAP:single_exon:E9 1.000000 4171 MTPAP:exon_block:E8-E9 1.000000 4245 MTPAP:boundary_CDS_coverage:after_E8 1.000000 360 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTR ENST00000366577.10 105 69 46 1 35 33 187 MTR:single_exon:E20 0.104762 153 MTR:exon_block:E19-E23 0.257143 520 MTR:boundary_CDS_coverage:after_E1 0.980952 3761 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTRFR ENST00000253233.6 23 20 3 0 3 3 8 MTRFR:single_exon:E2 0.521739 310 MTRFR:exon_block:E2-E3 0.956522 1458 MTRFR:boundary_CDS_coverage:after_E1 1.000000 498 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTRR ENST00000440940.7 157 122 58 0 35 15 79 MTRR:single_exon:E5 0.171975 379 MTRR:exon_block:E3-E7 0.509554 928 MTRR:boundary_CDS_coverage:after_E1 1.000000 2094 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTSS2 ENST00000338779.11 2 2 0 0 0 15 79 MTSS2:single_exon:E15 1.000000 3246 MTSS2:exon_block:E14-E15 1.000000 3412 MTSS2:boundary_CDS_coverage:after_E14 1.000000 770 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTTP ENST00000265517.10 179 147 56 0 32 18 97 MTTP:single_exon:E12 0.106145 212 MTTP:exon_block:E12-E16 0.357542 785 MTTP:boundary_CDS_coverage:after_E1 0.977654 2621 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MTX2 ENST00000249442.11 7 4 5 0 3 10 49 MTX2:single_exon:E4 0.285714 73 MTX2:exon_block:E3-E6 0.571429 290 MTX2:boundary_CDS_coverage:after_E3 0.857143 654 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MUC5B ENST00000529681.5 1 1 0 0 0 49 283 MUC5B:single_exon:E8 1.000000 202 MUC5B:exon_block:E7-E8 1.000000 309 MUC5B:boundary_CDS_coverage:after_E7 1.000000 16512 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MUS81 ENST00000308110.9 3 0 0 0 0 16 85 MUS81:single_exon:E5 0.000000 69 MUS81:exon_block:E5-E6 0.000000 155 MUS81:boundary_CDS_coverage:after_E15 1.000000 64 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MUSK ENST00000374448.9 71 56 22 0 15 15 79 MUSK:single_exon:E15 0.239437 6253 MUSK:exon_block:E11-E15 0.422535 6820 MUSK:boundary_CDS_coverage:after_E1 0.943662 2528 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MUTYH ENST00000456914.7 411 314 138 1 86 16 85 MUTYH:single_exon:E3 0.119221 149 MUTYH:exon_block:E10-E14 0.396594 688 MUTYH:boundary_CDS_coverage:after_E1 0.978102 1563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MVD ENST00000301012.8 7 3 4 0 4 10 49 MVD:single_exon:E7 0.428571 219 MVD:exon_block:E7-E9 0.714286 444 MVD:boundary_CDS_coverage:after_E1 1.000000 1130 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MVK ENST00000228510.8 128 95 24 0 15 11 55 MVK:single_exon:E5 0.125000 156 MVK:exon_block:E5-E9 0.445312 514 MVK:boundary_CDS_coverage:after_E1 0.859375 1188 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MXI1 ENST00000332674.9 5 4 1 0 1 6 25 MXI1:single_exon:E2 0.400000 133 MXI1:exon_block:E2-E5 1.000000 450 MXI1:boundary_CDS_coverage:after_E1 1.000000 611 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MXRA8 ENST00000309212.11 1 1 0 0 0 10 49 MXRA8:single_exon:E9 1.000000 81 MXRA8:exon_block:E8-E9 1.000000 158 MXRA8:boundary_CDS_coverage:after_E8 1.000000 104 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYBPC1 ENST00000361466.7 14 13 1 0 1 32 180 MYBPC1:single_exon:E11 0.642857 167 MYBPC1:exon_block:E11-E15 0.785714 698 MYBPC1:boundary_CDS_coverage:after_E3 1.000000 3410 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYBPC3 ENST00000545968.6 1046 828 336 0 218 35 198 MYBPC3:single_exon:E2 0.061185 267 MYBPC3:exon_block:E29-E33 0.213193 820 MYBPC3:boundary_CDS_coverage:after_E1 1.000000 3797 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYC ENST00000621592.8 4 4 0 0 0 3 8 MYC:single_exon:E2 1.000000 772 MYC:exon_block:E1-E2 1.000000 1165 MYC:boundary_CDS_coverage:after_E1 1.000000 1332 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYCBP2 ENST00000544440.7 17 15 6 0 2 83 487 MYCBP2:single_exon:E56 0.117647 1644 MYCBP2:exon_block:E56-E57 0.176471 1814 MYCBP2:boundary_CDS_coverage:after_E2 1.000000 13656 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYCN ENST00000281043.4 73 71 5 0 2 3 8 MYCN:single_exon:E3 0.561644 1512 MYCN:exon_block:E2-E3 1.000000 2419 MYCN:boundary_CDS_coverage:after_E1 1.000000 1392 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYD88 ENST00000650905.2 5 4 1 0 1 5 19 MYD88:single_exon:E1 0.800000 368 MYD88:exon_block:E1-E2 1.000000 503 MYD88:boundary_CDS_coverage:after_E2 0.200000 425 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYEF2 ENST00000324324.12 23 0 0 23 0 17 91 MYEF2:single_exon:E17 1.000000 8440 MYEF2:exon_block:E16-E17 1.000000 8492 MYEF2:boundary_CDS_coverage:after_E16 1.000000 161 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYF5 ENST00000228644.4 2 2 0 0 0 3 8 MYF5:single_exon:E1 1.000000 653 MYF5:exon_block:E1-E2 1.000000 729 MYF5:boundary_CDS_coverage:after_E2 0.000000 188 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYF6 ENST00000228641.4 1 1 0 0 0 3 8 MYF6:single_exon:E1 1.000000 605 MYF6:exon_block:E1-E2 1.000000 696 MYF6:boundary_CDS_coverage:after_E2 0.000000 116 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH10 ENST00000360416.8 13 12 2 0 1 43 247 MYH10:single_exon:E14 0.153846 174 MYH10:exon_block:E14-E18 0.307692 720 MYH10:boundary_CDS_coverage:after_E11 1.000000 4862 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH11 ENST00000300036.6 72 47 29 0 25 41 235 MYH11:single_exon:E26 0.097222 213 MYH11:exon_block:E25-E29 0.263889 842 MYH11:boundary_CDS_coverage:after_E1 1.000000 5916 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH14 ENST00000642316.2 29 23 12 0 6 43 247 MYH14:single_exon:E4 0.137931 28 MYH14:exon_block:E2-E5 0.206897 696 MYH14:boundary_CDS_coverage:after_E1 1.000000 6108 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH15 ENST00000693548.1 1 0 0 0 1 41 235 MYH15:single_exon:E5 0.000000 28 MYH15:exon_block:E5-E6 0.000000 122 MYH15:boundary_CDS_coverage:after_E33 1.000000 1042 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH2 ENST00000245503.10 117 87 42 0 30 40 229 MYH2:single_exon:E21 0.076923 137 MYH2:exon_block:E18-E22 0.239316 723 MYH2:boundary_CDS_coverage:after_E1 1.000000 5823 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH3 ENST00000583535.6 124 105 39 0 19 41 235 MYH3:single_exon:E15 0.064516 171 MYH3:exon_block:E22-E26 0.193548 913 MYH3:boundary_CDS_coverage:after_E1 1.000000 5820 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH6 ENST00000405093.9 15 11 6 0 4 39 223 MYH6:single_exon:E13 0.266667 269 MYH6:exon_block:E13-E16 0.333333 821 MYH6:boundary_CDS_coverage:after_E4 1.000000 5472 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH7 ENST00000355349.4 433 412 72 0 21 40 229 MYH7:single_exon:E22 0.117783 256 MYH7:exon_block:E19-E23 0.348730 878 MYH7:boundary_CDS_coverage:after_E1 1.000000 5805 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH7B ENST00000262873.13 12 10 3 0 2 45 259 MYH7B:single_exon:E10 0.166667 97 MYH7B:exon_block:E27-E29 0.333333 676 MYH7B:boundary_CDS_coverage:after_E9 1.000000 5296 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH8 ENST00000403437.2 2 2 0 0 0 40 229 MYH8:single_exon:E18 0.500000 88 MYH8:exon_block:E18-E22 1.000000 723 MYH8:boundary_CDS_coverage:after_E17 1.000000 3846 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYH9 ENST00000216181.11 69 68 12 0 1 41 235 MYH9:single_exon:E2 0.246377 352 MYH9:exon_block:E2-E3 0.260870 509 MYH9:boundary_CDS_coverage:after_E1 1.000000 5880 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYL1 ENST00000352451.4 1 0 0 0 1 7 30 MYL1:single_exon:E2 0.000000 28 MYL1:exon_block:E5-E6 0.000000 121 MYL1:boundary_CDS_coverage:after_E4 1.000000 104 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYL11 ENST00000322861.12 4 4 1 0 0 7 31 MYL11:single_exon:E7 0.750000 196 MYL11:exon_block:E3-E7 1.000000 505 MYL11:boundary_CDS_coverage:after_E2 1.000000 411 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYL2 ENST00000228841.15 17 16 3 1 0 7 31 MYL2:single_exon:E7 0.470588 331 MYL2:exon_block:E3-E7 0.882353 640 MYL2:boundary_CDS_coverage:after_E1 1.000000 495 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYL3 ENST00000292327.6 5 5 0 0 0 7 30 MYL3:single_exon:E4 0.400000 174 MYL3:exon_block:E1-E4 1.000000 535 MYL3:boundary_CDS_coverage:after_E2 0.600000 428 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYL4 ENST00000393450.5 15 6 9 0 9 7 30 MYL4:single_exon:E4 0.333333 174 MYL4:exon_block:E1-E5 1.000000 640 MYL4:boundary_CDS_coverage:after_E1 0.933333 456 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYL5 ENST00000400159.7 1 0 0 0 0 9 43 MYL5:single_exon:E8 0.000000 49 MYL5:exon_block:E7-E8 0.000000 128 MYL5:boundary_CDS_coverage:after_E8 0.000000 99 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYL9 ENST00000279022.7 1 0 0 0 1 4 13 MYL9:single_exon:E1 0.000000 43 MYL9:exon_block:E1-E2 0.000000 253 MYL9:boundary_CDS_coverage:after_E3 1.000000 170 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYLK ENST00000360304.8 73 56 23 0 17 34 193 MYLK:single_exon:E18 0.191781 986 MYLK:exon_block:E23-E27 0.369863 788 MYLK:boundary_CDS_coverage:after_E4 1.000000 5577 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYLK3 ENST00000394809.9 1 0 1 0 1 13 67 MYLK3:single_exon:E9 1.000000 71 MYLK3:exon_block:E9-E10 1.000000 200 MYLK3:boundary_CDS_coverage:after_E8 1.000000 543 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYMK ENST00000339996.4 8 8 0 0 0 5 19 MYMK:single_exon:E3 0.375000 149 MYMK:exon_block:E1-E5 1.000000 831 MYMK:boundary_CDS_coverage:after_E2 0.875000 413 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYMX ENST00000573382.3 3 2 0 1 0 2 4 MYMX:single_exon:E2 1.000000 785 MYMX:exon_block:E1-E2 1.000000 828 MYMX:boundary_CDS_coverage:after_E1 1.000000 252 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO10 ENST00000513610.6 1 1 0 0 0 41 235 MYO10:single_exon:E9 1.000000 104 MYO10:exon_block:E8-E9 1.000000 189 MYO10:boundary_CDS_coverage:after_E8 1.000000 5348 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO15A ENST00000647165.2 714 574 228 0 140 66 385 MYO15A:single_exon:E2 0.249300 3828 MYO15A:exon_block:E2-E6 0.289916 4160 MYO15A:boundary_CDS_coverage:after_E1 1.000000 10590 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO16 ENST00000457511.7 1 1 0 0 0 35 199 MYO16:single_exon:E13 1.000000 128 MYO16:exon_block:E12-E13 1.000000 194 MYO16:boundary_CDS_coverage:after_E12 1.000000 4215 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO18B ENST00000335473.12 140 115 32 1 24 44 252 MYO18B:single_exon:E43 0.214286 1246 MYO18B:exon_block:E39-E43 0.278571 1746 MYO18B:boundary_CDS_coverage:after_E1 1.000000 7701 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO19 ENST00000614623.5 6 0 0 0 0 26 145 MYO19:single_exon:E8 0.000000 70 MYO19:exon_block:E11-E12 0.000000 168 MYO19:boundary_CDS_coverage:after_E25 0.000000 153 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO1A ENST00000300119.8 1 1 0 0 0 28 157 MYO1A:single_exon:E9 1.000000 104 MYO1A:exon_block:E8-E9 1.000000 203 MYO1A:boundary_CDS_coverage:after_E8 1.000000 2489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO1B ENST00000392318.8 1 1 1 0 0 31 175 MYO1B:single_exon:E27 1.000000 107 MYO1B:exon_block:E27-E28 1.000000 240 MYO1B:boundary_CDS_coverage:after_E26 1.000000 642 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO1E ENST00000288235.9 30 28 6 0 2 28 157 MYO1E:single_exon:E15 0.100000 86 MYO1E:exon_block:E12-E16 0.366667 510 MYO1E:boundary_CDS_coverage:after_E1 1.000000 3321 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO1H ENST00000310903.10 4 3 1 0 1 32 181 MYO1H:single_exon:E24 0.500000 160 MYO1H:exon_block:E24-E26 0.750000 338 MYO1H:boundary_CDS_coverage:after_E2 1.000000 2940 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO3A ENST00000642920.2 70 46 31 0 24 35 199 MYO3A:single_exon:E32 0.100000 107 MYO3A:exon_block:E28-E32 0.385714 1434 MYO3A:boundary_CDS_coverage:after_E1 1.000000 4848 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO5A ENST00000399233.7 10 8 3 0 2 42 241 MYO5A:single_exon:E6 0.200000 144 MYO5A:exon_block:E5-E8 0.400000 491 MYO5A:boundary_CDS_coverage:after_E4 1.000000 5185 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO5B ENST00000285039.12 104 79 36 0 25 40 229 MYO5B:single_exon:E31 0.067308 199 MYO5B:exon_block:E10-E14 0.211538 696 MYO5B:boundary_CDS_coverage:after_E1 1.000000 5517 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO6 ENST00000369977.8 103 82 31 0 21 35 199 MYO6:single_exon:E26 0.135922 209 MYO6:exon_block:E22-E26 0.339806 659 MYO6:boundary_CDS_coverage:after_E1 1.000000 3855 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO7A ENST00000409709.9 898 735 297 0 163 49 283 MYO7A:single_exon:E31 0.040089 228 MYO7A:exon_block:E4-E8 0.145880 717 MYO7A:boundary_CDS_coverage:after_E1 1.000000 6645 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO9A ENST00000356056.10 2 1 1 0 1 42 241 MYO9A:single_exon:E11 0.500000 135 MYO9A:exon_block:E10-E11 0.500000 252 MYO9A:boundary_CDS_coverage:after_E10 1.000000 6057 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYO9B ENST00000682292.1 1 1 1 0 0 40 229 MYO9B:single_exon:E3 1.000000 95 MYO9B:exon_block:E3-E4 1.000000 158 MYO9B:boundary_CDS_coverage:after_E2 1.000000 5631 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYOC ENST00000037502.11 50 50 1 0 0 3 8 MYOC:single_exon:E3 0.980000 1293 MYOC:exon_block:E1-E3 1.000000 2100 MYOC:boundary_CDS_coverage:after_E2 0.980000 782 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYOCD ENST00000425538.6 5 4 2 0 1 14 73 MYOCD:single_exon:E4 0.200000 76 MYOCD:exon_block:E1-E5 0.600000 714 MYOCD:boundary_CDS_coverage:after_E1 1.000000 2903 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYOD1 ENST00000250003.4 5 5 0 0 0 3 8 MYOD1:single_exon:E1 0.800000 842 MYOD1:exon_block:E1-E2 1.000000 921 MYOD1:boundary_CDS_coverage:after_E1 0.200000 330 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYOF ENST00000359263.9 1 1 0 0 0 54 313 MYOF:single_exon:E7 1.000000 129 MYOF:exon_block:E7-E8 1.000000 192 MYOF:boundary_CDS_coverage:after_E6 1.000000 5583 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYORG ENST00000297625.8 36 36 0 0 0 2 4 MYORG:single_exon:E2 1.000000 6341 MYORG:exon_block:E1-E2 1.000000 6447 MYORG:boundary_CDS_coverage:after_E1 1.000000 2142 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYOT ENST00000239926.9 9 8 2 0 1 10 49 MYOT:single_exon:E2 0.666667 567 MYOT:exon_block:E2-E5 0.888889 894 MYOT:boundary_CDS_coverage:after_E1 1.000000 1494 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYOZ2 ENST00000307128.6 1 1 0 0 0 6 25 MYOZ2:single_exon:E3 1.000000 170 MYOZ2:exon_block:E2-E3 1.000000 260 MYOZ2:boundary_CDS_coverage:after_E2 1.000000 716 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYPN ENST00000358913.10 74 60 21 0 14 20 109 MYPN:single_exon:E10 0.148649 373 MYPN:exon_block:E10-E14 0.472973 1475 MYPN:boundary_CDS_coverage:after_E1 1.000000 3960 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYRF ENST00000278836.10 65 57 15 0 8 27 151 MYRF:single_exon:E8 0.169231 196 MYRF:exon_block:E6-E10 0.338462 759 MYRF:boundary_CDS_coverage:after_E2 1.000000 3319 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYSM1 ENST00000472487.6 33 27 10 0 6 20 109 MYSM1:single_exon:E8 0.242424 761 MYSM1:exon_block:E4-E8 0.545455 1041 MYSM1:boundary_CDS_coverage:after_E1 1.000000 2416 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYT1 ENST00000328439.6 1 1 0 0 0 23 127 MYT1:single_exon:E7 1.000000 894 MYT1:exon_block:E7-E8 1.000000 1029 MYT1:boundary_CDS_coverage:after_E6 1.000000 2966 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYT1L ENST00000647738.2 100 92 23 0 8 25 139 MYT1L:single_exon:E10 0.150000 978 MYT1L:exon_block:E9-E13 0.570000 1665 MYT1L:boundary_CDS_coverage:after_E1 1.000000 3558 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MYZAP ENST00000267853.10 7 6 2 0 1 13 67 MYZAP:single_exon:E11 0.285714 84 MYZAP:exon_block:E7-E11 0.571429 525 MYZAP:boundary_CDS_coverage:after_E2 1.000000 1236 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MZT2A ENST00000309451.7 2 0 0 0 0 3 8 MZT2A:single_exon:E2 0.000000 149 MZT2A:exon_block:E1-E2 0.000000 340 MZT2A:boundary_CDS_coverage:after_E2 1.000000 155 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true MZT2B ENST00000281871.11 1 0 0 0 0 3 8 MZT2B:single_exon:E2 0.000000 149 MZT2B:exon_block:E1-E2 0.000000 340 MZT2B:boundary_CDS_coverage:after_E2 1.000000 155 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true N4BP2L2 ENST00000267068.6 1 0 0 0 0 6 25 N4BP2L2:single_exon:E5 0.000000 77 N4BP2L2:exon_block:E4-E5 0.000000 166 N4BP2L2:boundary_CDS_coverage:after_E5 1.000000 199 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAA10 ENST00000464845.6 35 30 19 2 3 8 37 NAA10:single_exon:E5 0.285714 116 NAA10:exon_block:E2-E6 0.771429 365 NAA10:boundary_CDS_coverage:after_E1 1.000000 684 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAA15 ENST00000296543.10 160 130 57 0 30 20 109 NAA15:single_exon:E4 0.093750 158 NAA15:exon_block:E11-E15 0.368750 860 NAA15:boundary_CDS_coverage:after_E1 0.987500 2544 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAA20 ENST00000334982.9 2 2 1 0 0 6 25 NAA20:single_exon:E3 0.500000 91 NAA20:exon_block:E3-E4 1.000000 227 NAA20:boundary_CDS_coverage:after_E2 1.000000 456 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAA30 ENST00000556492.6 1 1 0 0 0 5 19 NAA30:single_exon:E2 1.000000 772 NAA30:exon_block:E1-E2 1.000000 892 NAA30:boundary_CDS_coverage:after_E1 1.000000 1086 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAA60 ENST00000407558.9 6 5 1 0 1 8 36 NAA60:single_exon:E6 0.500000 235 NAA60:exon_block:E3-E6 1.000000 578 NAA60:boundary_CDS_coverage:after_E1 1.000000 726 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAA80 ENST00000443094.3 1 1 0 0 0 2 4 NAA80:single_exon:E2 1.000000 1271 NAA80:exon_block:E1-E2 1.000000 1464 NAA80:boundary_CDS_coverage:after_E1 1.000000 858 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAALADL1 ENST00000358658.8 1 0 1 0 1 18 97 NAALADL1:single_exon:E13 1.000000 91 NAALADL1:exon_block:E13-E14 1.000000 173 NAALADL1:boundary_CDS_coverage:after_E12 1.000000 712 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NACC1 ENST00000292431.5 6 6 0 0 0 6 25 NACC1:single_exon:E2 0.500000 954 NACC1:exon_block:E2-E6 1.000000 4333 NACC1:boundary_CDS_coverage:after_E1 1.000000 1581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NADK2 ENST00000381937.9 2 1 2 0 1 12 61 NADK2:single_exon:E10 0.500000 54 NADK2:exon_block:E8-E10 1.000000 206 NADK2:boundary_CDS_coverage:after_E8 1.000000 370 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NADSYN1 ENST00000319023.7 13 11 4 0 2 21 115 NADSYN1:single_exon:E2 0.153846 61 NADSYN1:exon_block:E16-E19 0.384615 438 NADSYN1:boundary_CDS_coverage:after_E1 1.000000 2033 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAE1 ENST00000290810.8 3 3 1 0 0 20 109 NAE1:single_exon:E12 0.333333 60 NAE1:exon_block:E11-E12 0.333333 152 NAE1:boundary_CDS_coverage:after_E1 1.000000 1549 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAF1 ENST00000274054.3 5 3 2 0 2 8 37 NAF1:single_exon:E7 0.800000 103 NAF1:exon_block:E4-E7 1.000000 399 NAF1:boundary_CDS_coverage:after_E3 1.000000 848 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAGA ENST00000396398.8 42 31 17 0 11 9 43 NAGA:single_exon:E6 0.261905 162 NAGA:exon_block:E3-E7 0.785714 805 NAGA:boundary_CDS_coverage:after_E1 1.000000 1217 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAGLU ENST00000225927.7 295 276 26 0 18 6 25 NAGLU:single_exon:E6 0.406780 1422 NAGLU:exon_block:E2-E6 0.772881 2060 NAGLU:boundary_CDS_coverage:after_E1 0.779661 1846 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAGS ENST00000293404.8 113 92 28 0 20 7 31 NAGS:single_exon:E1 0.274336 468 NAGS:exon_block:E1-E5 0.761062 1310 NAGS:boundary_CDS_coverage:after_E1 0.725664 1176 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NALCN ENST00000251127.11 179 156 58 0 23 44 253 NALCN:single_exon:E13 0.078212 192 NALCN:exon_block:E11-E15 0.217877 705 NALCN:boundary_CDS_coverage:after_E1 1.000000 5214 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NALF1 ENST00000375915.4 3 0 0 0 3 3 8 NALF1:single_exon:E2 0.000000 172 NALF1:exon_block:E1-E2 0.000000 1987 NALF1:boundary_CDS_coverage:after_E1 1.000000 459 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NANOS1 ENST00000425699.3 1 1 0 0 0 1 1 NANOS1:single_exon:E1 1.000000 4017 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NANS ENST00000210444.6 18 13 5 0 5 6 25 NANS:single_exon:E3 0.222222 100 NANS:exon_block:E1-E5 0.944444 947 NANS:boundary_CDS_coverage:after_E1 0.888889 945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAPB ENST00000377026.4 3 3 3 0 0 11 55 NAPB:single_exon:E4 0.333333 47 NAPB:exon_block:E2-E4 0.666667 244 NAPB:boundary_CDS_coverage:after_E1 1.000000 796 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAPEPLD ENST00000465647.6 1 1 1 0 0 5 19 NAPEPLD:single_exon:E4 1.000000 115 NAPEPLD:exon_block:E3-E4 1.000000 762 NAPEPLD:boundary_CDS_coverage:after_E3 1.000000 238 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NARS1 ENST00000256854.10 21 19 2 0 2 14 73 NARS1:single_exon:E3 0.190476 159 NARS1:exon_block:E8-E12 0.476190 804 NARS1:boundary_CDS_coverage:after_E1 1.000000 1634 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NARS2 ENST00000281038.10 34 26 8 0 8 14 73 NARS2:single_exon:E7 0.147059 133 NARS2:exon_block:E5-E9 0.470588 446 NARS2:boundary_CDS_coverage:after_E1 0.941176 1290 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAV3 ENST00000397909.7 3 3 0 0 0 40 229 NAV3:single_exon:E12 0.333333 120 NAV3:exon_block:E35-E37 0.666667 424 NAV3:boundary_CDS_coverage:after_E11 1.000000 4639 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAXD ENST00000680254.1 17 12 11 0 4 10 49 NAXD:single_exon:E2 0.176471 151 NAXD:exon_block:E2-E6 0.529412 446 NAXD:boundary_CDS_coverage:after_E1 0.882353 941 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NAXE ENST00000368235.8 22 20 6 0 2 6 25 NAXE:single_exon:E5 0.272727 148 NAXE:exon_block:E1-E5 0.909091 693 NAXE:boundary_CDS_coverage:after_E1 0.818182 682 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NBAS ENST00000281513.10 245 186 79 0 59 52 301 NBAS:single_exon:E14 0.065306 194 NBAS:exon_block:E14-E18 0.167347 871 NBAS:boundary_CDS_coverage:after_E1 0.975510 6996 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NBEA ENST00000379939.7 81 54 31 0 27 59 343 NBEA:single_exon:E22 0.098765 1017 NBEA:exon_block:E21-E25 0.234568 1591 NBEA:boundary_CDS_coverage:after_E1 1.000000 8607 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NBEAL2 ENST00000450053.8 72 56 23 0 16 54 313 NBEAL2:single_exon:E13 0.111111 602 NBEAL2:exon_block:E44-E48 0.152778 588 NBEAL2:boundary_CDS_coverage:after_E2 1.000000 8122 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NBN ENST00000265433.8 531 441 150 0 90 16 85 NBN:single_exon:E11 0.163842 448 NBN:exon_block:E10-E14 0.463277 1060 NBN:boundary_CDS_coverage:after_E1 0.983051 2225 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCAM1 ENST00000316851.12 1 1 0 0 0 20 109 NCAM1:single_exon:E16 1.000000 125 NCAM1:exon_block:E15-E16 1.000000 128 NCAM1:boundary_CDS_coverage:after_E15 1.000000 746 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCAPD2 ENST00000315579.10 6 3 3 0 3 32 181 NCAPD2:single_exon:E20 0.166667 85 NCAPD2:exon_block:E6-E10 0.500000 741 NCAPD2:boundary_CDS_coverage:after_E5 1.000000 3759 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCAPD3 ENST00000534548.7 9 6 3 0 3 35 199 NCAPD3:single_exon:E26 0.222222 134 NCAPD3:exon_block:E24-E27 0.555556 552 NCAPD3:boundary_CDS_coverage:after_E3 1.000000 4112 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCAPG2 ENST00000356309.8 1 1 0 0 0 28 157 NCAPG2:single_exon:E3 1.000000 189 NCAPG2:exon_block:E3-E4 1.000000 304 NCAPG2:boundary_CDS_coverage:after_E2 1.000000 3351 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCAPH ENST00000240423.9 2 1 2 0 1 18 97 NCAPH:single_exon:E1 0.500000 83 NCAPH:exon_block:E7-E8 0.500000 282 NCAPH:boundary_CDS_coverage:after_E1 1.000000 2204 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCAPH2 ENST00000420993.7 49 0 0 49 0 20 109 NCAPH2:single_exon:E20 1.000000 1546 NCAPH2:exon_block:E19-E20 1.000000 1696 NCAPH2:boundary_CDS_coverage:after_E19 1.000000 138 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCDN ENST00000373243.7 7 7 0 0 0 7 31 NCDN:single_exon:E5 0.428571 225 NCDN:exon_block:E3-E7 1.000000 3132 NCDN:boundary_CDS_coverage:after_E2 1.000000 2013 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCF1 ENST00000289473.11 13 11 4 0 1 11 55 NCF1:single_exon:E2 0.230769 81 NCF1:exon_block:E2-E6 0.692308 502 NCF1:boundary_CDS_coverage:after_E1 1.000000 1098 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCF2 ENST00000367535.8 71 52 32 0 19 15 79 NCF2:single_exon:E12 0.154930 152 NCF2:exon_block:E1-E5 0.535211 739 NCF2:boundary_CDS_coverage:after_E1 0.915493 1404 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCF4 ENST00000248899.11 26 12 9 0 14 10 49 NCF4:single_exon:E3 0.230769 154 NCF4:exon_block:E1-E5 0.576923 636 NCF4:boundary_CDS_coverage:after_E1 0.923077 985 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCKAP1 ENST00000361354.9 22 20 5 0 2 31 175 NCKAP1:single_exon:E9 0.136364 157 NCKAP1:exon_block:E7-E10 0.363636 401 NCKAP1:boundary_CDS_coverage:after_E1 1.000000 3276 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCKAP1L ENST00000293373.11 12 10 2 0 2 31 175 NCKAP1L:single_exon:E8 0.166667 49 NCKAP1L:exon_block:E8-E12 0.416667 470 NCKAP1L:boundary_CDS_coverage:after_E4 0.916667 3018 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCLN ENST00000246117.9 1 1 0 0 0 15 79 NCLN:single_exon:E3 1.000000 145 NCLN:exon_block:E3-E4 1.000000 240 NCLN:boundary_CDS_coverage:after_E2 1.000000 1314 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCOA3 ENST00000371998.8 1 1 0 0 0 23 127 NCOA3:single_exon:E15 1.000000 246 NCOA3:exon_block:E15-E16 1.000000 373 NCOA3:boundary_CDS_coverage:after_E14 1.000000 1565 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCOR1 ENST00000268712.8 1 1 0 0 0 46 265 NCOR1:single_exon:E2 1.000000 178 NCOR1:exon_block:E2-E3 1.000000 312 NCOR1:boundary_CDS_coverage:after_E1 1.000000 7320 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCOR2 ENST00000405201.6 1 1 0 0 0 49 283 NCOR2:single_exon:E40 1.000000 428 NCOR2:exon_block:E40-E41 1.000000 578 NCOR2:boundary_CDS_coverage:after_E39 1.000000 1855 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCR1 ENST00000291890.9 14 0 0 0 0 7 31 NCR1:single_exon:E2 0.000000 36 NCR1:exon_block:E5-E6 0.000000 99 NCR1:boundary_CDS_coverage:after_E6 1.000000 179 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCR3 ENST00000340027.10 2 0 0 1 0 4 13 NCR3:single_exon:E1 0.500000 328 NCR3:exon_block:E1-E2 0.500000 673 NCR3:boundary_CDS_coverage:after_E3 0.000000 107 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NCSTN ENST00000294785.10 23 17 9 0 6 17 91 NCSTN:single_exon:E11 0.260870 173 NCSTN:exon_block:E7-E11 0.478261 619 NCSTN:boundary_CDS_coverage:after_E1 0.956522 2042 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDC1 ENST00000371429.4 1 0 0 0 1 18 97 NDC1:single_exon:E14 0.000000 51 NDC1:exon_block:E14-E15 0.000000 115 NDC1:boundary_CDS_coverage:after_E8 1.000000 1131 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDE1 ENST00000396354.6 36 9 2 6 21 9 43 NDE1:single_exon:E9 0.250000 2163 NDE1:exon_block:E6-E9 0.388889 2587 NDE1:boundary_CDS_coverage:after_E1 1.000000 1005 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDNF ENST00000379692.9 6 6 1 0 0 4 13 NDNF:single_exon:E4 0.833333 2045 NDNF:exon_block:E2-E4 1.000000 2359 NDNF:boundary_CDS_coverage:after_E1 1.000000 1704 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDP ENST00000642620.1 84 82 7 0 2 3 8 NDP:single_exon:E3 0.738095 1251 NDP:exon_block:E2-E3 1.000000 1632 NDP:boundary_CDS_coverage:after_E1 1.000000 399 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDRG1 ENST00000323851.13 49 23 32 0 26 16 85 NDRG1:single_exon:E8 0.142857 87 NDRG1:exon_block:E6-E10 0.469388 372 NDRG1:boundary_CDS_coverage:after_E1 1.000000 1182 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDST1 ENST00000261797.7 4 4 0 0 0 15 79 NDST1:single_exon:E10 0.500000 124 NDST1:exon_block:E9-E11 1.000000 396 NDST1:boundary_CDS_coverage:after_E8 1.000000 897 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA1 ENST00000371437.5 3 3 1 0 0 3 8 NDUFA1:single_exon:E2 0.666667 90 NDUFA1:exon_block:E1-E2 1.000000 272 NDUFA1:boundary_CDS_coverage:after_E1 0.666667 108 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA10 ENST00000252711.7 8 7 3 0 1 10 49 NDUFA10:single_exon:E3 0.500000 216 NDUFA10:exon_block:E1-E5 0.750000 710 NDUFA10:boundary_CDS_coverage:after_E2 0.875000 821 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA11 ENST00000308961.5 6 1 4 0 4 4 13 NDUFA11:single_exon:E1 0.500000 179 NDUFA11:exon_block:E1-E4 0.833333 575 NDUFA11:boundary_CDS_coverage:after_E1 0.833333 326 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA12 ENST00000327772.7 14 13 6 0 1 4 13 NDUFA12:single_exon:E1 0.571429 103 NDUFA12:exon_block:E1-E4 1.000000 562 NDUFA12:boundary_CDS_coverage:after_E1 0.500000 349 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA13 ENST00000507754.9 6 5 2 0 1 5 19 NDUFA13:single_exon:E1 0.500000 108 NDUFA13:exon_block:E1-E3 1.000000 259 NDUFA13:boundary_CDS_coverage:after_E1 0.666667 338 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA2 ENST00000252102.9 3 2 1 0 1 3 8 NDUFA2:single_exon:E2 1.000000 107 NDUFA2:exon_block:E1-E2 1.000000 255 NDUFA2:boundary_CDS_coverage:after_E1 1.000000 196 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA6 ENST00000498737.8 5 5 1 0 0 3 8 NDUFA6:single_exon:E3 0.800000 789 NDUFA6:exon_block:E2-E3 1.000000 905 NDUFA6:boundary_CDS_coverage:after_E1 1.000000 245 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA8 ENST00000373768.4 3 3 0 0 0 4 13 NDUFA8:single_exon:E2 0.333333 164 NDUFA8:exon_block:E2-E4 1.000000 651 NDUFA8:boundary_CDS_coverage:after_E1 1.000000 465 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFA9 ENST00000266544.10 11 10 5 0 1 11 55 NDUFA9:single_exon:E10 0.272727 67 NDUFA9:exon_block:E7-E11 0.727273 7688 NDUFA9:boundary_CDS_coverage:after_E2 1.000000 911 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFAF1 ENST00000260361.9 4 4 0 0 0 5 19 NDUFAF1:single_exon:E3 0.500000 186 NDUFAF1:exon_block:E2-E3 1.000000 840 NDUFAF1:boundary_CDS_coverage:after_E1 1.000000 981 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFAF2 ENST00000296597.10 23 21 5 0 1 4 13 NDUFAF2:single_exon:E2 0.347826 90 NDUFAF2:exon_block:E1-E4 0.956522 632 NDUFAF2:boundary_CDS_coverage:after_E1 0.608696 380 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFAF3 ENST00000326925.11 8 7 2 0 1 5 19 NDUFAF3:single_exon:E1 0.250000 101 NDUFAF3:exon_block:E1-E5 1.000000 902 NDUFAF3:boundary_CDS_coverage:after_E1 0.875000 475 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFAF4 ENST00000316149.8 2 2 0 0 0 3 8 NDUFAF4:single_exon:E2 0.500000 104 NDUFAF4:exon_block:E1-E2 1.000000 330 NDUFAF4:boundary_CDS_coverage:after_E1 0.500000 389 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFAF5 ENST00000378106.10 117 87 49 0 30 11 55 NDUFAF5:single_exon:E1 0.307692 263 NDUFAF5:exon_block:E1-E5 0.581197 520 NDUFAF5:boundary_CDS_coverage:after_E1 0.700855 813 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFAF6 ENST00000396124.9 34 29 13 0 5 9 43 NDUFAF6:single_exon:E5 0.235294 103 NDUFAF6:exon_block:E1-E5 0.794118 600 NDUFAF6:boundary_CDS_coverage:after_E1 0.764706 802 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFAF7 ENST00000002125.9 2 2 0 0 0 10 49 NDUFAF7:single_exon:E6 0.500000 59 NDUFAF7:exon_block:E2-E6 1.000000 626 NDUFAF7:boundary_CDS_coverage:after_E1 1.000000 1268 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFAF8 ENST00000431388.3 5 4 0 0 1 3 8 NDUFAF8:single_exon:E1 0.600000 130 NDUFAF8:exon_block:E1-E2 0.800000 241 NDUFAF8:boundary_CDS_coverage:after_E1 0.400000 138 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFB10 ENST00000268668.11 2 1 0 0 1 4 13 NDUFB10:single_exon:E3 0.500000 140 NDUFB10:exon_block:E2-E3 0.500000 279 NDUFB10:boundary_CDS_coverage:after_E1 1.000000 386 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFB11 ENST00000377811.4 11 9 1 0 2 3 8 NDUFB11:single_exon:E2 0.363636 131 NDUFB11:exon_block:E1-E3 0.909091 586 NDUFB11:boundary_CDS_coverage:after_E1 0.727273 252 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFB3 ENST00000237889.9 5 5 0 0 0 3 8 NDUFB3:single_exon:E2 0.600000 142 NDUFB3:exon_block:E2-E3 1.000000 434 NDUFB3:boundary_CDS_coverage:after_E1 1.000000 294 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFB7 ENST00000215565.3 1 0 1 0 1 3 8 NDUFB7:single_exon:E2 1.000000 169 NDUFB7:exon_block:E1-E2 1.000000 347 NDUFB7:boundary_CDS_coverage:after_E1 1.000000 299 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFB8 ENST00000299166.9 4 4 0 0 0 5 19 NDUFB8:single_exon:E4 0.500000 156 NDUFB8:exon_block:E2-E4 1.000000 383 NDUFB8:boundary_CDS_coverage:after_E1 1.000000 473 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFB9 ENST00000276689.8 1 1 0 0 0 4 13 NDUFB9:single_exon:E2 1.000000 193 NDUFB9:exon_block:E2-E3 1.000000 307 NDUFB9:boundary_CDS_coverage:after_E1 1.000000 436 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFC1 ENST00000394223.2 3 0 0 0 3 6 24 NDUFC1:single_exon:E2 0.000000 59 NDUFC1:exon_block:E1-E2 0.000000 121 NDUFC1:boundary_CDS_coverage:after_E1 1.000000 228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFC2 ENST00000281031.5 2 1 1 1 0 3 8 NDUFC2:single_exon:E2 0.500000 144 NDUFC2:exon_block:E2-E3 1.000000 1884 NDUFC2:boundary_CDS_coverage:after_E1 1.000000 191 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFS1 ENST00000233190.11 50 44 14 0 6 19 103 NDUFS1:single_exon:E8 0.160000 186 NDUFS1:exon_block:E7-E11 0.400000 713 NDUFS1:boundary_CDS_coverage:after_E1 1.000000 2181 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFS2 ENST00000676972.1 13 11 4 0 2 14 73 NDUFS2:single_exon:E6 0.153846 75 NDUFS2:exon_block:E6-E10 0.461538 489 NDUFS2:boundary_CDS_coverage:after_E1 0.846154 1294 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFS3 ENST00000263774.9 9 8 1 0 1 7 31 NDUFS3:single_exon:E5 0.444444 126 NDUFS3:exon_block:E1-E5 0.777778 525 NDUFS3:boundary_CDS_coverage:after_E4 0.666667 411 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFS4 ENST00000296684.10 47 36 18 0 11 5 19 NDUFS4:single_exon:E3 0.382979 173 NDUFS4:exon_block:E1-E5 1.000000 669 NDUFS4:boundary_CDS_coverage:after_E1 0.872340 427 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFS6 ENST00000274137.10 39 26 19 0 13 4 13 NDUFS6:single_exon:E3 0.410256 123 NDUFS6:exon_block:E1-E4 0.948718 518 NDUFS6:boundary_CDS_coverage:after_E1 0.820513 240 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFS7 ENST00000233627.14 20 12 9 0 8 8 37 NDUFS7:single_exon:E5 0.450000 180 NDUFS7:exon_block:E2-E6 0.800000 439 NDUFS7:boundary_CDS_coverage:after_E1 0.950000 623 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFS8 ENST00000313468.10 18 16 3 0 2 7 31 NDUFS8:single_exon:E5 0.500000 173 NDUFS8:exon_block:E4-E6 1.000000 392 NDUFS8:boundary_CDS_coverage:after_E3 1.000000 521 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFV1 ENST00000322776.11 68 58 18 1 9 10 49 NDUFV1:single_exon:E4 0.250000 184 NDUFV1:exon_block:E1-E5 0.647059 769 NDUFV1:boundary_CDS_coverage:after_E1 0.926471 1320 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NDUFV2 ENST00000318388.11 17 16 5 0 1 8 37 NDUFV2:single_exon:E6 0.294118 110 NDUFV2:exon_block:E2-E6 0.882353 525 NDUFV2:boundary_CDS_coverage:after_E1 0.941176 693 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEB ENST00000397345.8 1871 1440 705 0 431 182 1081 NEB:single_exon:E86 0.016034 204 NEB:exon_block:E85-E89 0.056654 1041 NEB:boundary_CDS_coverage:after_E3 1.000000 25539 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEBL ENST00000377122.9 1 1 0 0 0 28 157 NEBL:single_exon:E13 1.000000 111 NEBL:exon_block:E12-E13 1.000000 222 NEBL:boundary_CDS_coverage:after_E12 1.000000 1815 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NECAP1 ENST00000339754.11 5 4 1 0 1 8 37 NECAP1:single_exon:E3 0.400000 105 NECAP1:exon_block:E1-E3 1.000000 316 NECAP1:boundary_CDS_coverage:after_E1 0.600000 730 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NECTIN1 ENST00000264025.8 8 8 0 0 0 6 25 NECTIN1:single_exon:E3 0.375000 303 NECTIN1:exon_block:E2-E6 1.000000 5230 NECTIN1:boundary_CDS_coverage:after_E1 1.000000 1472 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NECTIN4 ENST00000368012.4 12 11 3 0 1 9 43 NECTIN4:single_exon:E3 0.250000 291 NECTIN4:exon_block:E2-E6 0.833333 1078 NECTIN4:boundary_CDS_coverage:after_E1 1.000000 1451 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEDD4L ENST00000400345.8 9 7 2 0 2 31 175 NEDD4L:single_exon:E21 0.222222 230 NEDD4L:exon_block:E21-E23 0.444444 423 NEDD4L:boundary_CDS_coverage:after_E8 1.000000 2412 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEFH ENST00000310624.7 9 8 1 0 1 4 13 NEFH:single_exon:E4 0.777778 2542 NEFH:exon_block:E1-E4 1.000000 3795 NEFH:boundary_CDS_coverage:after_E1 0.888889 2177 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEFL ENST00000610854.2 51 50 3 0 1 4 13 NEFL:single_exon:E1 0.803922 1141 NEFL:exon_block:E1-E3 1.000000 1586 NEFL:boundary_CDS_coverage:after_E1 0.215686 585 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEIL1 ENST00000355059.9 4 0 0 4 0 10 49 NEIL1:single_exon:E10 1.000000 2152 NEIL1:exon_block:E9-E10 1.000000 2318 NEIL1:boundary_CDS_coverage:after_E9 1.000000 68 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEK1 ENST00000507142.6 106 84 36 0 22 36 205 NEK1:single_exon:E12 0.084906 152 NEK1:exon_block:E17-E21 0.254717 567 NEK1:boundary_CDS_coverage:after_E3 1.000000 3741 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEK10 ENST00000691995.1 8 6 2 0 2 36 205 NEK10:single_exon:E7 0.125000 42 NEK10:exon_block:E21-E25 0.500000 502 NEK10:boundary_CDS_coverage:after_E7 1.000000 2856 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEK2 ENST00000366999.9 5 5 0 0 0 8 37 NEK2:single_exon:E4 0.400000 83 NEK2:exon_block:E4-E8 1.000000 1437 NEK2:boundary_CDS_coverage:after_E3 1.000000 780 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEK4 ENST00000233027.10 1 1 0 0 0 16 85 NEK4:single_exon:E13 1.000000 89 NEK4:exon_block:E12-E13 1.000000 199 NEK4:boundary_CDS_coverage:after_E12 1.000000 519 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEK8 ENST00000268766.11 38 27 15 0 11 15 79 NEK8:single_exon:E10 0.157895 118 NEK8:exon_block:E6-E10 0.473684 590 NEK8:boundary_CDS_coverage:after_E1 1.000000 2029 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEK9 ENST00000238616.10 22 19 6 0 3 22 121 NEK9:single_exon:E12 0.136364 201 NEK9:exon_block:E8-E12 0.409091 655 NEK9:boundary_CDS_coverage:after_E1 0.954545 2718 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEMF ENST00000298310.10 29 26 8 0 3 33 187 NEMF:single_exon:E14 0.172414 192 NEMF:exon_block:E22-E26 0.344828 645 NEMF:boundary_CDS_coverage:after_E3 0.965517 2997 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEU1 ENST00000375631.5 67 59 15 0 8 6 25 NEU1:single_exon:E5 0.313433 223 NEU1:exon_block:E1-E5 0.850746 1066 NEU1:boundary_CDS_coverage:after_E1 0.865672 1086 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEUROD1 ENST00000295108.4 5 5 0 0 0 2 4 NEUROD1:single_exon:E2 1.000000 2405 NEUROD1:exon_block:E1-E2 1.000000 2493 NEUROD1:boundary_CDS_coverage:after_E1 1.000000 1068 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEUROD2 ENST00000302584.5 8 8 0 0 0 2 4 NEUROD2:single_exon:E2 1.000000 2837 NEUROD2:exon_block:E1-E2 1.000000 3030 NEUROD2:boundary_CDS_coverage:after_E1 1.000000 1146 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEUROG1 ENST00000314744.6 4 4 0 0 0 1 1 NEUROG1:single_exon:E1 1.000000 1683 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEUROG3 ENST00000242462.5 14 14 0 0 0 2 4 NEUROG3:single_exon:E2 1.000000 1347 NEUROG3:exon_block:E1-E2 1.000000 1560 NEUROG3:boundary_CDS_coverage:after_E1 1.000000 642 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEXMIF ENST00000055682.12 218 217 1 0 1 4 13 NEXMIF:single_exon:E3 0.995413 4378 NEXMIF:exon_block:E2-E3 1.000000 4504 NEXMIF:boundary_CDS_coverage:after_E1 1.000000 4548 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NEXN ENST00000334785.12 27 23 6 0 4 13 67 NEXN:single_exon:E8 0.222222 177 NEXN:exon_block:E7-E11 0.629630 984 NEXN:boundary_CDS_coverage:after_E3 1.000000 1806 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NF1 ENST00000358273.9 5381 4544 1413 6 831 58 337 NF1:single_exon:E37 0.052592 433 NF1:exon_block:E36-E40 0.153875 1282 NF1:boundary_CDS_coverage:after_E1 0.992566 8457 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NF2 ENST00000338641.10 285 209 108 0 74 16 85 NF2:single_exon:E12 0.091228 218 NF2:exon_block:E1-E5 0.364912 882 NF2:boundary_CDS_coverage:after_E1 0.929825 1671 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFASC ENST00000339876.11 13 8 0 0 5 30 169 NFASC:single_exon:E21 0.153846 223 NFASC:exon_block:E19-E22 0.307692 615 NFASC:boundary_CDS_coverage:after_E10 1.000000 2717 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFATC2 ENST00000371564.8 2 1 1 1 0 11 54 NFATC2:single_exon:E8 0.500000 127 NFATC2:exon_block:E8-E11 1.000000 5394 NFATC2:boundary_CDS_coverage:after_E7 1.000000 858 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFE2L2 ENST00000397062.8 5 5 0 0 0 5 19 NFE2L2:single_exon:E2 1.000000 267 NFE2L2:exon_block:E2-E3 1.000000 357 NFE2L2:boundary_CDS_coverage:after_E1 1.000000 1770 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFIA ENST00000403491.8 65 61 7 0 4 11 55 NFIA:single_exon:E2 0.523077 532 NFIA:exon_block:E2-E6 0.738462 919 NFIA:boundary_CDS_coverage:after_E1 0.953846 1500 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFIB ENST00000380953.6 34 31 6 0 3 11 55 NFIB:single_exon:E2 0.500000 532 NFIB:exon_block:E2-E6 0.764706 895 NFIB:boundary_CDS_coverage:after_E1 0.970588 1452 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFIX ENST00000592199.6 169 150 29 0 19 11 55 NFIX:single_exon:E2 0.573964 532 NFIX:exon_block:E2-E6 0.769231 928 NFIX:boundary_CDS_coverage:after_E1 1.000000 1479 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFKB1 ENST00000226574.9 157 120 59 0 37 24 133 NFKB1:single_exon:E6 0.101911 149 NFKB1:exon_block:E6-E10 0.369427 669 NFKB1:boundary_CDS_coverage:after_E2 1.000000 2868 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFKB2 ENST00000661543.1 17 15 3 0 2 23 127 NFKB2:single_exon:E23 0.352941 273 NFKB2:exon_block:E19-E23 0.647059 780 NFKB2:boundary_CDS_coverage:after_E3 1.000000 2597 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFKBIA ENST00000216797.10 11 11 0 0 0 6 25 NFKBIA:single_exon:E1 1.000000 332 NFKBIA:exon_block:E1-E2 1.000000 441 NFKBIA:boundary_CDS_coverage:after_E5 0.000000 45 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFU1 ENST00000410022.7 17 13 10 0 4 8 37 NFU1:single_exon:E6 0.352941 61 NFU1:exon_block:E3-E7 0.823529 554 NFU1:boundary_CDS_coverage:after_E1 1.000000 700 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NFXL1 ENST00000507489.2 1 1 0 0 0 23 127 NFXL1:single_exon:E13 1.000000 121 NFXL1:exon_block:E12-E13 1.000000 212 NFXL1:boundary_CDS_coverage:after_E12 1.000000 1190 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NGF ENST00000369512.3 3 3 0 0 0 3 8 NGF:single_exon:E3 1.000000 891 NGF:exon_block:E2-E3 1.000000 1015 NGF:boundary_CDS_coverage:after_E1 1.000000 723 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NGLY1 ENST00000280700.10 126 111 30 0 15 12 61 NGLY1:single_exon:E10 0.142857 186 NGLY1:exon_block:E8-E12 0.460317 1332 NGLY1:boundary_CDS_coverage:after_E1 0.920635 1831 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NHEJ1 ENST00000356853.10 38 28 14 0 10 8 37 NHEJ1:single_exon:E2 0.315789 177 NHEJ1:exon_block:E2-E6 0.973684 706 NHEJ1:boundary_CDS_coverage:after_E1 1.000000 897 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NHLRC1 ENST00000340650.6 49 49 0 0 0 1 1 NHLRC1:single_exon:E1 1.000000 2238 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NHLRC2 ENST00000369301.3 8 8 0 0 0 11 55 NHLRC2:single_exon:E3 0.375000 456 NHLRC2:exon_block:E1-E5 0.875000 1251 NHLRC2:boundary_CDS_coverage:after_E1 0.875000 2000 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NHP2 ENST00000274606.8 3 2 0 1 0 4 13 NHP2:single_exon:E4 1.000000 376 NHP2:exon_block:E3-E4 1.000000 482 NHP2:boundary_CDS_coverage:after_E3 1.000000 123 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NHS ENST00000676302.1 76 68 13 0 8 9 43 NHS:single_exon:E7 0.421053 2982 NHS:exon_block:E3-E7 0.684211 3504 NHS:boundary_CDS_coverage:after_E1 0.776316 4388 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NICN1 ENST00000273598.8 17 0 0 17 0 6 25 NICN1:single_exon:E6 1.000000 2542 NICN1:exon_block:E5-E6 1.000000 2647 NICN1:boundary_CDS_coverage:after_E5 1.000000 39 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NID1 ENST00000264187.7 2 1 1 0 1 20 109 NID1:single_exon:E17 0.500000 158 NID1:exon_block:E17-E18 0.500000 282 NID1:boundary_CDS_coverage:after_E17 0.500000 356 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NIN ENST00000530997.7 6 5 0 0 1 31 175 NIN:single_exon:E18 0.333333 2139 NIN:exon_block:E17-E18 0.500000 2642 NIN:boundary_CDS_coverage:after_E16 1.000000 4503 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NIPA1 ENST00000337435.9 4 4 2 0 0 5 19 NIPA1:single_exon:E3 0.500000 91 NIPA1:exon_block:E1-E5 1.000000 6553 NIPA1:boundary_CDS_coverage:after_E2 0.750000 761 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NIPA2 ENST00000337451.8 1 1 0 0 0 8 37 NIPA2:single_exon:E8 1.000000 2172 NIPA2:exon_block:E7-E8 1.000000 2333 NIPA2:boundary_CDS_coverage:after_E7 1.000000 632 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NIPAL4 ENST00000311946.8 37 28 11 2 6 6 25 NIPAL4:single_exon:E6 0.324324 2391 NIPAL4:exon_block:E2-E6 0.864865 2940 NIPAL4:boundary_CDS_coverage:after_E1 0.891892 1175 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NIPBL ENST00000282516.13 581 482 141 3 96 47 271 NIPBL:single_exon:E10 0.135972 1626 NIPBL:exon_block:E9-E13 0.263339 2706 NIPBL:boundary_CDS_coverage:after_E1 0.994836 8412 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NIPSNAP3B ENST00000374762.4 9 0 0 0 0 6 25 NIPSNAP3B:single_exon:E5 0.000000 87 NIPSNAP3B:exon_block:E4-E5 0.000000 237 NIPSNAP3B:boundary_CDS_coverage:after_E5 1.000000 74 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NISCH ENST00000345716.9 1 1 0 0 0 21 115 NISCH:single_exon:E3 1.000000 183 NISCH:exon_block:E3-E4 1.000000 232 NISCH:boundary_CDS_coverage:after_E2 1.000000 4335 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NIT1 ENST00000368009.7 2 1 1 0 1 7 31 NIT1:single_exon:E5 0.500000 134 NIT1:exon_block:E3-E5 1.000000 493 NIT1:boundary_CDS_coverage:after_E2 1.000000 883 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NKAP ENST00000371410.5 3 3 1 0 0 9 43 NKAP:single_exon:E8 0.666667 150 NKAP:exon_block:E8-E9 1.000000 4873 NKAP:boundary_CDS_coverage:after_E7 1.000000 322 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NKIRAS1 ENST00000425478.7 12 0 0 0 0 5 19 NKIRAS1:single_exon:E3 0.000000 111 NKIRAS1:exon_block:E2-E3 0.000000 233 NKIRAS1:boundary_CDS_coverage:after_E4 0.000000 240 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NKX2-1 ENST00000354822.7 126 119 5 2 5 3 8 NKX2-1:single_exon:E3 0.690476 1624 NKX2-1:exon_block:E1-E3 0.992063 2190 NKX2-1:boundary_CDS_coverage:after_E1 0.976190 1126 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NKX2-2 ENST00000377142.5 1 1 0 0 0 2 4 NKX2-2:single_exon:E2 1.000000 1469 NKX2-2:exon_block:E1-E2 1.000000 2123 NKX2-2:boundary_CDS_coverage:after_E1 1.000000 560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NKX2-5 ENST00000329198.5 125 119 9 0 6 2 4 NKX2-5:single_exon:E2 0.736000 1101 NKX2-5:exon_block:E1-E2 0.992000 1558 NKX2-5:boundary_CDS_coverage:after_E1 0.752000 638 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NKX2-6 ENST00000325017.4 4 4 0 0 0 2 4 NKX2-6:single_exon:E2 1.000000 1343 NKX2-6:exon_block:E1-E2 1.000000 1775 NKX2-6:boundary_CDS_coverage:after_E1 1.000000 629 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NKX3-2 ENST00000382438.6 9 9 0 0 0 2 4 NKX3-2:single_exon:E1 0.888889 560 NKX3-2:exon_block:E1-E2 1.000000 2259 NKX3-2:boundary_CDS_coverage:after_E1 0.111111 533 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NKX6-2 ENST00000368592.8 23 22 4 0 1 3 8 NKX6-2:single_exon:E1 0.521739 605 NKX6-2:exon_block:E1-E3 1.000000 2768 NKX6-2:boundary_CDS_coverage:after_E1 0.521739 425 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLGN2 ENST00000302926.7 1 1 0 0 0 7 31 NLGN2:single_exon:E6 1.000000 597 NLGN2:exon_block:E5-E6 1.000000 790 NLGN2:boundary_CDS_coverage:after_E5 1.000000 1468 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLGN3 ENST00000358741.4 12 10 2 0 2 8 37 NLGN3:single_exon:E2 0.250000 657 NLGN3:exon_block:E4-E8 0.750000 3134 NLGN3:boundary_CDS_coverage:after_E1 1.000000 2544 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLGN4X ENST00000381095.8 9 7 2 0 2 6 25 NLGN4X:single_exon:E2 0.333333 777 NLGN4X:exon_block:E2-E6 1.000000 5531 NLGN4X:boundary_CDS_coverage:after_E1 1.000000 2448 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLRC4 ENST00000402280.6 14 14 0 0 0 9 43 NLRC4:single_exon:E4 1.000000 1995 NLRC4:exon_block:E4-E5 1.000000 2088 NLRC4:boundary_CDS_coverage:after_E3 1.000000 2810 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLRP1 ENST00000572272.6 5 5 0 0 0 17 91 NLRP1:single_exon:E1 0.600000 823 NLRP1:exon_block:E1-E4 0.800000 2909 NLRP1:boundary_CDS_coverage:after_E3 0.400000 3767 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLRP12 ENST00000324134.11 12 10 2 0 2 10 49 NLRP12:single_exon:E3 0.500000 1702 NLRP12:exon_block:E3-E7 0.750000 2386 NLRP12:boundary_CDS_coverage:after_E2 0.916667 2813 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLRP2 ENST00000448584.7 4 3 1 0 1 13 67 NLRP2:single_exon:E6 0.500000 1567 NLRP2:exon_block:E6-E9 1.000000 2074 NLRP2:boundary_CDS_coverage:after_E5 1.000000 2723 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLRP3 ENST00000336119.8 64 64 0 0 0 10 49 NLRP3:single_exon:E4 0.890625 1753 NLRP3:exon_block:E4-E7 0.968750 2266 NLRP3:boundary_CDS_coverage:after_E1 1.000000 3102 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLRP5 ENST00000850973.1 12 10 1 1 1 15 79 NLRP5:single_exon:E7 0.583333 1597 NLRP5:exon_block:E3-E7 0.666667 1834 NLRP5:boundary_CDS_coverage:after_E1 1.000000 3447 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NLRP7 ENST00000592784.6 25 22 4 0 3 11 55 NLRP7:single_exon:E4 0.280000 1579 NLRP7:exon_block:E3-E7 0.840000 2194 NLRP7:boundary_CDS_coverage:after_E2 1.000000 2834 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NME5 ENST00000265191.4 2 2 0 0 0 6 25 NME5:single_exon:E4 0.500000 101 NME5:exon_block:E4-E6 1.000000 810 NME5:boundary_CDS_coverage:after_E3 1.000000 301 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NMNAT1 ENST00000377205.6 66 54 10 4 8 5 19 NMNAT1:single_exon:E5 0.469697 3198 NMNAT1:exon_block:E1-E5 0.984848 3734 NMNAT1:boundary_CDS_coverage:after_E1 0.969697 837 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NMNAT2 ENST00000287713.7 2 2 0 0 0 11 55 NMNAT2:single_exon:E9 0.500000 102 NMNAT2:exon_block:E5-E9 1.000000 432 NMNAT2:boundary_CDS_coverage:after_E4 1.000000 600 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NNT ENST00000344920.9 27 23 11 0 4 22 121 NNT:single_exon:E5 0.111111 88 NNT:exon_block:E8-E11 0.333333 642 NNT:boundary_CDS_coverage:after_E1 1.000000 3258 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOBOX ENST00000645489.2 15 12 1 0 2 8 37 NOBOX:single_exon:E6 0.266667 229 NOBOX:exon_block:E3-E7 0.733333 834 NOBOX:boundary_CDS_coverage:after_E2 0.933333 1133 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOC3L ENST00000371361.3 3 0 0 0 0 21 115 NOC3L:single_exon:E5 0.000000 57 NOC3L:exon_block:E15-E16 0.000000 136 NOC3L:boundary_CDS_coverage:after_E20 1.000000 126 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOD2 ENST00000647318.2 20 20 0 0 0 12 61 NOD2:single_exon:E4 1.000000 1816 NOD2:exon_block:E4-E5 1.000000 1900 NOD2:boundary_CDS_coverage:after_E3 1.000000 2474 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NODAL ENST00000287139.8 16 13 3 0 3 3 8 NODAL:single_exon:E2 0.875000 698 NODAL:exon_block:E1-E2 1.000000 905 NODAL:boundary_CDS_coverage:after_E1 0.875000 848 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOG ENST00000332822.6 50 50 0 0 0 1 1 NOG:single_exon:E1 1.000000 1913 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NONO ENST00000276079.13 33 28 10 0 5 12 61 NONO:single_exon:E4 0.363636 194 NONO:exon_block:E3-E6 0.606061 755 NONO:boundary_CDS_coverage:after_E1 1.000000 1413 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOP10 ENST00000328848.6 1 1 1 0 0 2 4 NOP10:single_exon:E1 1.000000 117 NOP10:exon_block:E1-E2 1.000000 507 NOP10:boundary_CDS_coverage:after_E1 0.000000 138 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOP56 ENST00000329276.10 1 1 1 0 0 12 61 NOP56:single_exon:E7 1.000000 152 NOP56:exon_block:E7-E8 1.000000 253 NOP56:boundary_CDS_coverage:after_E7 1.000000 873 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOS1AP ENST00000361897.10 2 1 1 0 1 10 49 NOS1AP:single_exon:E5 1.000000 109 NOS1AP:exon_block:E4-E5 1.000000 183 NOS1AP:boundary_CDS_coverage:after_E4 1.000000 1174 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOS3 ENST00000297494.8 2 2 0 0 0 27 151 NOS3:single_exon:E3 0.500000 112 NOS3:exon_block:E3-E5 1.000000 424 NOS3:boundary_CDS_coverage:after_E2 1.000000 3451 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOTCH1 ENST00000651671.1 163 142 37 0 21 34 193 NOTCH1:single_exon:E25 0.122699 572 NOTCH1:exon_block:E23-E27 0.263804 1524 NOTCH1:boundary_CDS_coverage:after_E2 0.993865 7525 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOTCH2 ENST00000256646.7 98 89 10 0 9 34 193 NOTCH2:single_exon:E34 0.418367 5142 NOTCH2:exon_block:E30-E34 0.561224 5859 NOTCH2:boundary_CDS_coverage:after_E2 0.989796 7258 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOTCH3 ENST00000263388.7 315 308 45 0 7 33 187 NOTCH3:single_exon:E4 0.257143 339 NOTCH3:exon_block:E2-E6 0.520635 918 NOTCH3:boundary_CDS_coverage:after_E1 0.993651 6845 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NOVA2 ENST00000263257.6 13 13 0 0 0 4 13 NOVA2:single_exon:E4 1.000000 7212 NOVA2:exon_block:E3-E4 1.000000 7379 NOVA2:boundary_CDS_coverage:after_E3 1.000000 1080 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPAS2 ENST00000335681.10 1 1 0 0 0 21 115 NPAS2:single_exon:E14 1.000000 110 NPAS2:exon_block:E14-E15 1.000000 200 NPAS2:boundary_CDS_coverage:after_E13 1.000000 1190 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPC1 ENST00000269228.10 634 552 146 0 82 25 139 NPC1:single_exon:E8 0.088328 371 NPC1:exon_block:E18-E22 0.291798 873 NPC1:boundary_CDS_coverage:after_E1 0.992114 3777 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPC2 ENST00000555619.6 59 51 16 1 7 5 19 NPC2:single_exon:E3 0.372881 173 NPC2:exon_block:E1-E5 1.000000 821 NPC2:boundary_CDS_coverage:after_E1 0.762712 371 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPHP1 ENST00000445609.7 143 99 61 0 44 20 109 NPHP1:single_exon:E14 0.076923 83 NPHP1:exon_block:E11-E15 0.293706 475 NPHP1:boundary_CDS_coverage:after_E1 0.951049 1962 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPHP3 ENST00000337331.10 161 132 47 0 29 27 151 NPHP3:single_exon:E1 0.093168 447 NPHP3:exon_block:E20-E24 0.273292 877 NPHP3:boundary_CDS_coverage:after_E1 0.913043 3597 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPHP4 ENST00000378156.9 158 122 49 0 36 30 169 NPHP4:single_exon:E2 0.063291 173 NPHP4:exon_block:E18-E22 0.234177 927 NPHP4:boundary_CDS_coverage:after_E1 1.000000 4278 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPHS1 ENST00000378910.10 468 369 153 1 98 29 163 NPHS1:single_exon:E2 0.061966 216 NPHS1:exon_block:E18-E22 0.224359 775 NPHS1:boundary_CDS_coverage:after_E1 0.982906 3665 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPHS2 ENST00000367615.9 158 131 47 1 26 8 37 NPHS2:single_exon:E1 0.227848 358 NPHS2:exon_block:E1-E5 0.696203 822 NPHS2:boundary_CDS_coverage:after_E1 0.784810 875 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPM1 ENST00000296930.10 8 7 0 1 0 11 55 NPM1:single_exon:E11 1.000000 374 NPM1:exon_block:E10-E11 1.000000 449 NPM1:boundary_CDS_coverage:after_E10 1.000000 36 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPNT ENST00000379987.7 1 1 0 0 0 12 61 NPNT:single_exon:E5 1.000000 120 NPNT:exon_block:E4-E5 1.000000 240 NPNT:boundary_CDS_coverage:after_E4 1.000000 1310 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPPA ENST00000376480.7 1 0 1 1 0 3 8 NPPA:single_exon:E3 1.000000 306 NPPA:exon_block:E2-E3 1.000000 633 NPPA:boundary_CDS_coverage:after_E2 1.000000 3 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPR2 ENST00000342694.7 99 86 25 0 13 22 121 NPR2:single_exon:E1 0.151515 1485 NPR2:exon_block:E1-E5 0.343434 2036 NPR2:boundary_CDS_coverage:after_E1 0.848485 2474 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPR3 ENST00000265074.13 8 8 1 0 0 8 37 NPR3:single_exon:E1 0.625000 1225 NPR3:exon_block:E1-E5 0.875000 1746 NPR3:boundary_CDS_coverage:after_E3 0.375000 564 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPRL2 ENST00000232501.8 25 19 8 0 6 11 55 NPRL2:single_exon:E9 0.200000 118 NPRL2:exon_block:E1-E5 0.640000 708 NPRL2:boundary_CDS_coverage:after_E1 0.800000 1062 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPRL3 ENST00000611875.5 133 96 50 0 37 14 73 NPRL3:single_exon:E6 0.135338 154 NPRL3:exon_block:E9-E13 0.451128 777 NPRL3:boundary_CDS_coverage:after_E1 1.000000 1707 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPTN ENST00000345330.9 7 7 0 0 0 9 42 NPTN:single_exon:E2 0.714286 348 NPTN:exon_block:E2-E6 1.000000 1023 NPTN:boundary_CDS_coverage:after_E1 1.000000 1103 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NPTX1 ENST00000306773.5 6 6 0 0 0 5 19 NPTX1:single_exon:E5 0.500000 4201 NPTX1:exon_block:E1-E5 1.000000 5439 NPTX1:boundary_CDS_coverage:after_E1 0.833333 852 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NQO1 ENST00000320623.10 2 2 0 0 0 6 25 NQO1:single_exon:E6 1.000000 1881 NQO1:exon_block:E5-E6 1.000000 1983 NQO1:boundary_CDS_coverage:after_E5 1.000000 303 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR0B1 ENST00000378970.5 124 114 4 3 6 2 4 NR0B1:single_exon:E1 0.790323 1195 NR0B1:exon_block:E1-E2 0.975806 1813 NR0B1:boundary_CDS_coverage:after_E1 0.225806 242 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR0B2 ENST00000254227.4 4 4 0 0 0 2 4 NR0B2:single_exon:E1 1.000000 567 NR0B2:exon_block:E1-E2 1.000000 1165 NR0B2:boundary_CDS_coverage:after_E1 0.000000 239 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR1D1 ENST00000246672.4 1 0 0 0 1 8 37 NR1D1:single_exon:E3 0.000000 89 NR1D1:exon_block:E3-E4 0.000000 234 NR1D1:boundary_CDS_coverage:after_E7 1.000000 197 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR1D2 ENST00000312521.9 1 1 1 0 0 8 37 NR1D2:single_exon:E5 1.000000 629 NR1D2:exon_block:E4-E5 1.000000 774 NR1D2:boundary_CDS_coverage:after_E4 1.000000 1220 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR1H3 ENST00000441012.7 1 1 0 0 0 10 49 NR1H3:single_exon:E10 1.000000 484 NR1H3:exon_block:E9-E10 1.000000 579 NR1H3:boundary_CDS_coverage:after_E9 1.000000 144 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR1H4 ENST00000392986.8 14 11 4 0 3 11 55 NR1H4:single_exon:E7 0.214286 99 NR1H4:exon_block:E5-E9 0.714286 633 NR1H4:boundary_CDS_coverage:after_E3 1.000000 1349 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR2C1 ENST00000333003.10 1 0 1 0 1 14 73 NR2C1:single_exon:E5 1.000000 180 NR2C1:exon_block:E4-E5 1.000000 259 NR2C1:boundary_CDS_coverage:after_E5 1.000000 1265 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR2C2AP ENST00000331552.12 1 0 0 1 0 5 19 NR2C2AP:single_exon:E5 1.000000 633 NR2C2AP:exon_block:E4-E5 1.000000 701 NR2C2AP:boundary_CDS_coverage:after_E4 1.000000 114 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR2E3 ENST00000617575.5 152 126 38 0 26 8 37 NR2E3:single_exon:E2 0.210526 127 NR2E3:exon_block:E2-E6 0.743421 876 NR2E3:boundary_CDS_coverage:after_E1 0.947368 1112 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR2F1 ENST00000327111.8 118 116 5 0 2 3 8 NR2F1:single_exon:E1 0.669492 2265 NR2F1:exon_block:E1-E3 1.000000 3843 NR2F1:boundary_CDS_coverage:after_E1 0.338983 806 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR2F1-AS1 ENST00000669203.2 79 0 0 0 0 8 30 NR2F1-AS1:single_exon:E6 0.000000 39 NR2F1-AS1:exon_block:E5-E6 0.000000 86 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR2F2 ENST00000394166.8 35 32 2 0 3 3 8 NR2F2:single_exon:E1 0.428571 1848 NR2F2:exon_block:E1-E3 0.971429 5287 NR2F2:boundary_CDS_coverage:after_E1 0.600000 800 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR3C1 ENST00000394464.7 16 13 4 0 3 9 43 NR3C1:single_exon:E9 0.375000 4108 NR3C1:exon_block:E5-E9 0.750000 4821 NR3C1:boundary_CDS_coverage:after_E1 1.000000 2331 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR3C2 ENST00000358102.8 52 45 11 0 7 9 43 NR3C2:single_exon:E2 0.269231 1759 NR3C2:exon_block:E2-E6 0.692308 2512 NR3C2:boundary_CDS_coverage:after_E1 1.000000 2952 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR4A2 ENST00000339562.9 49 45 10 0 4 8 37 NR4A2:single_exon:E3 0.591837 866 NR4A2:exon_block:E3-E7 0.979592 1542 NR4A2:boundary_CDS_coverage:after_E1 1.000000 1794 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR5A1 ENST00000373588.9 128 116 31 0 12 7 31 NR5A1:single_exon:E4 0.296875 626 NR5A1:exon_block:E2-E6 0.867188 1153 NR5A1:boundary_CDS_coverage:after_E1 1.000000 1383 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NR6A1 ENST00000487099.7 7 6 1 0 1 10 49 NR6A1:single_exon:E3 0.285714 243 NR6A1:exon_block:E3-E7 0.714286 937 NR6A1:boundary_CDS_coverage:after_E2 1.000000 1298 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRAP ENST00000359988.4 10 6 5 0 4 42 241 NRAP:single_exon:E28 0.200000 108 NRAP:exon_block:E28-E32 0.400000 624 NRAP:boundary_CDS_coverage:after_E4 1.000000 4830 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRAS ENST00000369535.5 25 25 4 0 0 7 29 NRAS:single_exon:E2 0.520000 128 NRAS:exon_block:E2-E4 1.000000 467 NRAS:boundary_CDS_coverage:after_E1 1.000000 567 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRCAM ENST00000379028.8 14 12 3 0 2 33 187 NRCAM:single_exon:E25 0.214286 205 NRCAM:exon_block:E25-E28 0.357143 541 NRCAM:boundary_CDS_coverage:after_E1 1.000000 3912 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRDE2 ENST00000354366.8 1 0 0 1 0 14 73 NRDE2:single_exon:E14 1.000000 10602 NRDE2:exon_block:E13-E14 1.000000 10674 NRDE2:boundary_CDS_coverage:after_E13 1.000000 123 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRIP1 ENST00000318948.7 3 3 0 0 0 4 13 NRIP1:single_exon:E4 1.000000 7292 NRIP1:exon_block:E3-E4 1.000000 7415 NRIP1:boundary_CDS_coverage:after_E1 1.000000 3474 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRL ENST00000561028.6 36 32 2 0 4 3 8 NRL:single_exon:E2 0.666667 408 NRL:exon_block:E2-E3 0.916667 3315 NRL:boundary_CDS_coverage:after_E1 1.000000 711 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRP2 ENST00000357785.10 1 1 0 0 0 17 91 NRP2:single_exon:E13 1.000000 263 NRP2:exon_block:E13-E14 1.000000 360 NRP2:boundary_CDS_coverage:after_E12 1.000000 734 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRROS ENST00000328557.5 12 12 0 0 0 3 8 NRROS:single_exon:E3 0.916667 2253 NRROS:exon_block:E2-E3 1.000000 2374 NRROS:boundary_CDS_coverage:after_E1 1.000000 2076 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRXN1 ENST00000401669.7 74 54 21 0 20 23 127 NRXN1:single_exon:E2 0.135135 1693 NRXN1:exon_block:E7-E11 0.243243 1213 NRXN1:boundary_CDS_coverage:after_E1 1.000000 4521 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRXN2 ENST00000265459.11 1 1 0 0 0 23 127 NRXN2:single_exon:E2 1.000000 974 NRXN2:exon_block:E2-E3 1.000000 992 NRXN2:boundary_CDS_coverage:after_E1 1.000000 5136 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NRXN3 ENST00000335750.7 1 1 0 0 0 21 115 NRXN3:single_exon:E7 1.000000 439 NRXN3:exon_block:E6-E7 1.000000 601 NRXN3:boundary_CDS_coverage:after_E6 1.000000 3492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSD1 ENST00000439151.7 694 639 113 0 55 23 127 NSD1:single_exon:E5 0.286744 2560 NSD1:exon_block:E5-E9 0.365994 3142 NSD1:boundary_CDS_coverage:after_E1 1.000000 8088 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSD2 ENST00000508803.6 77 69 19 0 8 22 121 NSD2:single_exon:E5 0.103896 483 NSD2:exon_block:E3-E7 0.311688 1077 NSD2:boundary_CDS_coverage:after_E1 1.000000 4095 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSDHL ENST00000370274.8 20 19 5 0 1 8 37 NSDHL:single_exon:E8 0.300000 946 NSDHL:exon_block:E4-E8 0.800000 1468 NSDHL:boundary_CDS_coverage:after_E2 1.000000 1011 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSF ENST00000398238.8 6 6 1 0 0 21 115 NSF:single_exon:E15 0.333333 134 NSF:exon_block:E13-E15 0.666667 387 NSF:boundary_CDS_coverage:after_E7 1.000000 1643 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSMCE2 ENST00000287437.8 7 6 1 0 1 8 37 NSMCE2:single_exon:E5 0.428571 154 NSMCE2:exon_block:E3-E6 0.857143 533 NSMCE2:boundary_CDS_coverage:after_E1 1.000000 741 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSMCE3 ENST00000332303.6 2 2 0 0 0 1 1 NSMCE3:single_exon:E1 1.000000 4834 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSMF ENST00000371475.9 2 1 1 0 1 16 85 NSMF:single_exon:E5 0.500000 6 NSMF:exon_block:E1-E5 1.000000 942 NSMF:boundary_CDS_coverage:after_E5 0.500000 880 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSRP1 ENST00000247026.10 5 5 1 0 0 7 31 NSRP1:single_exon:E7 0.800000 1861 NSRP1:exon_block:E6-E7 0.800000 1970 NSRP1:boundary_CDS_coverage:after_E1 1.000000 1654 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSUN2 ENST00000264670.11 53 46 13 0 7 19 103 NSUN2:single_exon:E11 0.132075 131 NSUN2:exon_block:E7-E11 0.377358 604 NSUN2:boundary_CDS_coverage:after_E1 0.943396 2205 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSUN3 ENST00000314622.9 5 4 1 0 1 6 25 NSUN3:single_exon:E3 0.800000 344 NSUN3:exon_block:E2-E3 0.800000 454 NSUN3:boundary_CDS_coverage:after_E2 1.000000 898 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NSUN6 ENST00000377304.7 3 3 0 0 0 11 55 NSUN6:single_exon:E8 0.333333 145 NSUN6:exon_block:E8-E11 1.000000 1005 NSUN6:boundary_CDS_coverage:after_E7 1.000000 630 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NT5C2 ENST00000404739.8 30 21 12 0 9 19 103 NT5C2:single_exon:E15 0.200000 171 NT5C2:exon_block:E15-E19 0.466667 2332 NT5C2:boundary_CDS_coverage:after_E1 1.000000 1683 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NT5C3A ENST00000610140.7 19 15 4 0 4 9 43 NT5C3A:single_exon:E7 0.315789 163 NT5C3A:exon_block:E4-E8 0.894737 587 NT5C3A:boundary_CDS_coverage:after_E1 1.000000 855 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NT5DC1 ENST00000319550.9 78 0 0 0 78 12 61 NT5DC1:single_exon:E3 0.000000 72 NT5DC1:exon_block:E2-E3 0.000000 164 NT5DC1:boundary_CDS_coverage:after_E6 1.000000 836 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NT5DC4 ENST00000688554.1 2 0 0 1 0 17 91 NT5DC4:single_exon:E17 0.500000 183 NT5DC4:exon_block:E16-E17 0.500000 261 NT5DC4:boundary_CDS_coverage:after_E16 1.000000 21 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NT5E ENST00000257770.8 4 4 0 0 0 9 43 NT5E:single_exon:E5 0.250000 155 NT5E:exon_block:E5-E9 0.750000 2556 NT5E:boundary_CDS_coverage:after_E2 1.000000 1160 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NTF4 ENST00000593537.2 1 1 0 0 0 2 4 NTF4:single_exon:E2 1.000000 882 NTF4:exon_block:E1-E2 1.000000 1962 NTF4:boundary_CDS_coverage:after_E1 1.000000 630 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NTHL1 ENST00000651570.2 153 135 36 1 16 6 25 NTHL1:single_exon:E2 0.313725 239 NTHL1:exon_block:E1-E5 0.941176 802 NTHL1:boundary_CDS_coverage:after_E1 0.888889 797 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NTN1 ENST00000173229.7 3 3 0 0 0 7 31 NTN1:single_exon:E7 1.000000 4361 NTN1:exon_block:E6-E7 1.000000 4436 NTN1:boundary_CDS_coverage:after_E6 1.000000 326 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NTNG2 ENST00000393229.4 8 8 2 0 0 8 37 NTNG2:single_exon:E3 0.750000 644 NTNG2:exon_block:E3-E6 0.875000 1009 NTNG2:boundary_CDS_coverage:after_E2 1.000000 1377 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NTRK1 ENST00000524377.7 199 151 59 0 48 17 91 NTRK1:single_exon:E14 0.155779 173 NTRK1:exon_block:E13-E17 0.442211 1098 NTRK1:boundary_CDS_coverage:after_E1 0.924623 2176 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NTRK2 ENST00000277120.8 14 10 6 0 4 19 103 NTRK2:single_exon:E13 0.142857 48 NTRK2:exon_block:E11-E15 0.428571 569 NTRK2:boundary_CDS_coverage:after_E1 1.000000 2514 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUAK2 ENST00000367157.6 2 2 0 0 0 7 31 NUAK2:single_exon:E3 0.500000 152 NUAK2:exon_block:E3-E7 1.000000 2922 NUAK2:boundary_CDS_coverage:after_E2 1.000000 1532 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUBPL ENST00000281081.12 19 14 7 0 5 11 55 NUBPL:single_exon:E6 0.210526 91 NUBPL:exon_block:E6-E9 0.684211 392 NUBPL:boundary_CDS_coverage:after_E1 1.000000 849 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUDC ENST00000321265.10 4 0 0 0 0 9 43 NUDC:single_exon:E4 0.000000 66 NUDC:exon_block:E4-E5 0.000000 183 NUDC:boundary_CDS_coverage:after_E8 0.000000 49 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUDCD3 ENST00000355451.8 1 1 0 0 0 6 25 NUDCD3:single_exon:E5 1.000000 189 NUDCD3:exon_block:E4-E5 1.000000 333 NUDCD3:boundary_CDS_coverage:after_E4 1.000000 297 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUDT2 ENST00000379158.7 3 3 0 0 0 5 19 NUDT2:single_exon:E5 0.666667 576 NUDT2:exon_block:E4-E5 1.000000 719 NUDT2:boundary_CDS_coverage:after_E1 1.000000 441 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUF2 ENST00000271452.8 1 1 0 0 0 14 73 NUF2:single_exon:E6 1.000000 98 NUF2:exon_block:E5-E6 1.000000 160 NUF2:boundary_CDS_coverage:after_E5 1.000000 1055 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUMA1 ENST00000393695.8 1 1 0 0 0 27 151 NUMA1:single_exon:E15 1.000000 3366 NUMA1:exon_block:E15-E16 1.000000 3408 NUMA1:boundary_CDS_coverage:after_E14 1.000000 5103 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP107 ENST00000229179.9 26 20 10 0 6 28 157 NUP107:single_exon:E4 0.115385 116 NUP107:exon_block:E3-E7 0.346154 580 NUP107:boundary_CDS_coverage:after_E2 1.000000 2675 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP133 ENST00000261396.6 8 5 2 0 3 26 145 NUP133:single_exon:E25 0.125000 89 NUP133:exon_block:E21-E25 0.375000 490 NUP133:boundary_CDS_coverage:after_E1 1.000000 3286 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP155 ENST00000231498.8 1 1 0 0 0 35 199 NUP155:single_exon:E11 1.000000 153 NUP155:exon_block:E10-E11 1.000000 251 NUP155:boundary_CDS_coverage:after_E10 1.000000 3080 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP160 ENST00000378460.7 8 6 3 0 2 36 205 NUP160:single_exon:E18 0.250000 134 NUP160:exon_block:E14-E18 0.375000 689 NUP160:boundary_CDS_coverage:after_E6 1.000000 3366 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP188 ENST00000372577.2 18 15 6 0 3 44 253 NUP188:single_exon:E36 0.111111 93 NUP188:exon_block:E35-E39 0.222222 666 NUP188:boundary_CDS_coverage:after_E2 1.000000 5160 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP205 ENST00000285968.11 2 2 0 0 0 43 247 NUP205:single_exon:E24 0.500000 150 NUP205:exon_block:E24-E25 0.500000 222 NUP205:boundary_CDS_coverage:after_E23 1.000000 2726 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP214 ENST00000359428.10 10 9 2 0 1 36 205 NUP214:single_exon:E29 0.300000 1800 NUP214:exon_block:E29-E32 0.400000 2181 NUP214:boundary_CDS_coverage:after_E1 1.000000 6225 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP37 ENST00000552283.6 4 2 2 0 2 10 49 NUP37:single_exon:E4 0.250000 73 NUP37:exon_block:E2-E4 0.750000 419 NUP37:boundary_CDS_coverage:after_E2 1.000000 822 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP54 ENST00000264883.8 3 3 0 0 0 12 61 NUP54:single_exon:E9 0.666667 108 NUP54:exon_block:E9-E12 1.000000 1170 NUP54:boundary_CDS_coverage:after_E8 1.000000 465 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP62 ENST00000352066.8 1 1 0 0 0 3 8 NUP62:single_exon:E3 1.000000 3060 NUP62:exon_block:E2-E3 1.000000 3182 NUP62:boundary_CDS_coverage:after_E1 1.000000 1566 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP85 ENST00000245544.9 4 3 1 0 1 19 103 NUP85:single_exon:E5 0.250000 44 NUP85:exon_block:E17-E19 0.500000 435 NUP85:boundary_CDS_coverage:after_E5 1.000000 1563 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP88 ENST00000573584.6 3 3 1 0 0 17 91 NUP88:single_exon:E14 0.333333 81 NUP88:exon_block:E9-E11 0.666667 352 NUP88:boundary_CDS_coverage:after_E8 1.000000 932 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP93 ENST00000308159.10 19 14 10 0 5 22 121 NUP93:single_exon:E15 0.210526 73 NUP93:exon_block:E12-E16 0.473684 531 NUP93:boundary_CDS_coverage:after_E1 1.000000 2457 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUP98 ENST00000324932.12 1 1 0 0 0 33 187 NUP98:single_exon:E33 1.000000 1358 NUP98:exon_block:E32-E33 1.000000 1470 NUP98:boundary_CDS_coverage:after_E32 1.000000 215 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUS1 ENST00000368494.4 81 70 16 1 10 5 19 NUS1:single_exon:E1 0.567901 617 NUS1:exon_block:E1-E5 1.000000 4796 NUS1:boundary_CDS_coverage:after_E1 0.456790 464 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NUSAP1 ENST00000559596.6 1 1 0 0 0 11 55 NUSAP1:single_exon:E10 1.000000 109 NUSAP1:exon_block:E9-E10 1.000000 226 NUSAP1:boundary_CDS_coverage:after_E9 1.000000 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NXF3 ENST00000395065.8 1 1 0 0 0 20 108 NXF3:single_exon:E9 1.000000 110 NXF3:exon_block:E9-E10 1.000000 147 NXF3:boundary_CDS_coverage:after_E8 1.000000 813 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NXN ENST00000336868.8 7 7 1 0 0 8 37 NXN:single_exon:E4 0.142857 101 NXN:exon_block:E1-E5 0.714286 918 NXN:boundary_CDS_coverage:after_E1 0.857143 945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NXT2 ENST00000372106.6 1 1 0 0 0 4 13 NXT2:single_exon:E3 1.000000 145 NXT2:exon_block:E2-E3 1.000000 232 NXT2:boundary_CDS_coverage:after_E2 1.000000 324 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true NYX ENST00000378220.3 55 51 3 1 3 3 8 NYX:single_exon:E3 0.963636 2162 NYX:exon_block:E2-E3 1.000000 2240 NYX:boundary_CDS_coverage:after_E1 1.000000 1428 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OAS1 ENST00000202917.10 2 2 0 0 0 6 25 OAS1:single_exon:E3 0.500000 185 OAS1:exon_block:E2-E3 1.000000 474 OAS1:boundary_CDS_coverage:after_E1 1.000000 1020 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OAS2 ENST00000392583.7 1 1 0 0 0 10 49 OAS2:single_exon:E8 1.000000 188 OAS2:exon_block:E8-E9 1.000000 427 OAS2:boundary_CDS_coverage:after_E7 1.000000 593 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OAT ENST00000368845.6 150 121 44 0 29 10 49 OAT:single_exon:E7 0.146667 129 OAT:exon_block:E4-E8 0.586667 590 OAT:boundary_CDS_coverage:after_E1 1.000000 1317 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OBSCN ENST00000680850.1 55 46 13 0 9 116 685 OBSCN:single_exon:E105 0.090909 2059 OBSCN:exon_block:E73-E77 0.109091 614 OBSCN:boundary_CDS_coverage:after_E1 1.000000 26775 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OBSL1 ENST00000404537.6 73 61 15 0 12 21 115 OBSL1:single_exon:E1 0.342466 1319 OBSL1:exon_block:E1-E5 0.684932 2441 OBSL1:boundary_CDS_coverage:after_E1 0.671233 4676 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OCA2 ENST00000354638.8 309 230 116 0 79 24 133 OCA2:single_exon:E19 0.077670 128 OCA2:exon_block:E19-E23 0.258900 481 OCA2:boundary_CDS_coverage:after_E1 1.000000 2514 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OCLN ENST00000396442.7 22 18 6 0 4 9 43 OCLN:single_exon:E3 0.500000 679 OCLN:exon_block:E2-E6 0.863636 1321 OCLN:boundary_CDS_coverage:after_E1 1.000000 1566 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OCRL ENST00000371113.9 146 108 51 0 37 24 133 OCRL:single_exon:E15 0.143836 136 OCRL:exon_block:E14-E18 0.383562 759 OCRL:boundary_CDS_coverage:after_E1 0.993151 2664 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ODAD1 ENST00000674294.1 30 16 18 0 14 16 85 ODAD1:single_exon:E4 0.200000 100 ODAD1:exon_block:E4-E8 0.600000 595 ODAD1:boundary_CDS_coverage:after_E3 1.000000 2051 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ODAD2 ENST00000305242.10 61 44 19 0 17 20 109 ODAD2:single_exon:E18 0.131148 189 ODAD2:exon_block:E14-E18 0.327869 813 ODAD2:boundary_CDS_coverage:after_E1 1.000000 3132 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ODAD3 ENST00000356392.9 36 28 12 0 8 13 67 ODAD3:single_exon:E1 0.222222 349 ODAD3:exon_block:E1-E5 0.638889 819 ODAD3:boundary_CDS_coverage:after_E1 0.861111 1541 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ODAD4 ENST00000377540.6 11 8 4 0 3 12 61 ODAD4:single_exon:E6 0.272727 225 ODAD4:exon_block:E2-E6 0.727273 736 ODAD4:boundary_CDS_coverage:after_E1 1.000000 1902 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ODAPH ENST00000311623.9 7 5 2 0 2 2 4 ODAPH:single_exon:E2 0.857143 704 ODAPH:exon_block:E1-E2 1.000000 788 ODAPH:boundary_CDS_coverage:after_E1 0.857143 323 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ODC1 ENST00000234111.9 10 7 4 0 3 12 61 ODC1:single_exon:E12 0.700000 901 ODC1:exon_block:E11-E12 1.000000 1116 ODC1:boundary_CDS_coverage:after_E10 1.000000 357 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ODF2 ENST00000351030.8 1 1 0 0 0 21 115 ODF2:single_exon:E6 1.000000 161 ODF2:exon_block:E6-E7 1.000000 291 ODF2:boundary_CDS_coverage:after_E5 1.000000 2067 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OFD1 ENST00000340096.11 181 116 48 0 35 23 127 OFD1:single_exon:E16 0.093923 606 OFD1:exon_block:E16-E20 0.243094 1103 OFD1:boundary_CDS_coverage:after_E1 0.828729 3024 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OGDH ENST00000222673.6 5 4 2 0 1 23 127 OGDH:single_exon:E7 0.400000 147 OGDH:exon_block:E5-E8 0.800000 509 OGDH:boundary_CDS_coverage:after_E4 1.000000 2552 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OGDHL ENST00000374103.9 8 6 4 0 2 23 127 OGDHL:single_exon:E16 0.250000 128 OGDHL:exon_block:E13-E16 0.500000 511 OGDHL:boundary_CDS_coverage:after_E6 1.000000 2281 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OGT ENST00000373719.8 17 15 4 1 1 22 121 OGT:single_exon:E7 0.176471 196 OGT:exon_block:E11-E15 0.411765 657 OGT:boundary_CDS_coverage:after_E3 0.941176 2676 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OLFML2B ENST00000294794.8 5 5 0 0 0 8 37 OLFML2B:single_exon:E6 0.400000 525 OLFML2B:exon_block:E6-E8 0.800000 1787 OLFML2B:boundary_CDS_coverage:after_E5 0.800000 1301 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OPA1 ENST00000361510.8 369 280 143 0 89 31 174 OPA1:single_exon:E16 0.075881 131 OPA1:exon_block:E12-E16 0.238482 459 OPA1:boundary_CDS_coverage:after_E1 0.989160 3013 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OPA3 ENST00000263275.5 38 30 7 1 5 2 4 OPA3:single_exon:E2 0.526316 7631 OPA3:exon_block:E1-E2 0.947368 7811 OPA3:boundary_CDS_coverage:after_E1 0.631579 395 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OPCML ENST00000524381.6 1 1 0 0 0 8 37 OPCML:single_exon:E3 1.000000 233 OPCML:exon_block:E2-E3 1.000000 318 OPCML:boundary_CDS_coverage:after_E2 1.000000 868 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OPHN1 ENST00000355520.6 79 53 38 0 26 25 138 OPHN1:single_exon:E11 0.088608 92 OPHN1:exon_block:E7-E11 0.316456 539 OPHN1:boundary_CDS_coverage:after_E1 1.000000 2406 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OPLAH ENST00000618853.5 44 37 12 0 7 27 151 OPLAH:single_exon:E19 0.113636 175 OPLAH:exon_block:E19-E23 0.363636 792 OPLAH:boundary_CDS_coverage:after_E1 1.000000 3864 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OPN1LW ENST00000369951.9 9 9 2 0 0 6 25 OPN1LW:single_exon:E2 0.333333 297 OPN1LW:exon_block:E2-E6 1.000000 1089 OPN1LW:boundary_CDS_coverage:after_E1 1.000000 980 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OPN1MW ENST00000595290.6 6 5 1 0 0 6 25 OPN1MW:single_exon:E4 0.166667 166 OPN1MW:exon_block:E2-E6 0.833333 1804 OPN1MW:boundary_CDS_coverage:after_E1 0.833333 980 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OPTN ENST00000378747.8 64 52 23 0 12 15 79 OPTN:single_exon:E5 0.171875 183 OPTN:exon_block:E8-E12 0.484375 622 OPTN:boundary_CDS_coverage:after_E1 1.000000 1731 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OR10Z1 ENST00000641002.1 4 0 0 4 0 2 4 OR10Z1:single_exon:E2 1.000000 6189 OR10Z1:exon_block:E1-E2 1.000000 6323 OR10Z1:boundary_CDS_coverage:after_E1 1.000000 939 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ORC1 ENST00000371568.8 33 24 10 0 8 17 91 ORC1:single_exon:E15 0.181818 170 ORC1:exon_block:E3-E7 0.484848 1092 ORC1:boundary_CDS_coverage:after_E2 1.000000 2488 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ORC3 ENST00000392844.8 2 1 1 0 1 20 109 ORC3:single_exon:E7 0.500000 134 ORC3:exon_block:E7-E8 1.000000 294 ORC3:boundary_CDS_coverage:after_E6 1.000000 1554 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ORC4 ENST00000392857.10 22 20 5 0 2 14 73 ORC4:single_exon:E11 0.227273 109 ORC4:exon_block:E7-E11 0.590909 571 ORC4:boundary_CDS_coverage:after_E1 1.000000 1308 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ORC6 ENST00000219097.7 17 13 8 0 4 7 31 ORC6:single_exon:E3 0.294118 164 ORC6:exon_block:E1-E5 0.882353 609 ORC6:boundary_CDS_coverage:after_E1 0.882353 691 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OSBP ENST00000263847.6 1 1 0 0 0 14 73 OSBP:single_exon:E8 1.000000 246 OSBP:exon_block:E8-E9 1.000000 367 OSBP:boundary_CDS_coverage:after_E7 1.000000 1110 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OSBPL2 ENST00000313733.9 6 6 1 0 0 14 73 OSBPL2:single_exon:E3 0.833333 145 OSBPL2:exon_block:E3-E6 1.000000 454 OSBPL2:boundary_CDS_coverage:after_E2 1.000000 1403 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OSBPL8 ENST00000261183.8 1 0 0 0 0 24 133 OSBPL8:single_exon:E3 0.000000 37 OSBPL8:exon_block:E2-E3 0.000000 146 OSBPL8:boundary_CDS_coverage:after_E23 1.000000 130 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OSGEP ENST00000206542.9 29 26 9 0 3 11 55 OSGEP:single_exon:E3 0.172414 176 OSGEP:exon_block:E1-E5 0.551724 686 OSGEP:boundary_CDS_coverage:after_E1 0.827586 890 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OSM ENST00000215781.3 1 1 0 0 0 3 8 OSM:single_exon:E3 1.000000 1636 OSM:exon_block:E2-E3 1.000000 1779 OSM:boundary_CDS_coverage:after_E2 1.000000 579 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OSMR ENST00000274276.8 5 5 0 0 0 18 97 OSMR:single_exon:E15 0.600000 168 OSMR:exon_block:E13-E15 1.000000 447 OSMR:boundary_CDS_coverage:after_E12 1.000000 1172 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OSTM1 ENST00000193322.8 27 22 6 0 5 6 25 OSTM1:single_exon:E1 0.407407 492 OSTM1:exon_block:E1-E5 1.000000 1039 OSTM1:boundary_CDS_coverage:after_E1 0.666667 600 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTC ENST00000039007.5 438 377 118 0 57 10 49 OTC:single_exon:E5 0.196347 154 OTC:exon_block:E5-E9 0.636986 619 OTC:boundary_CDS_coverage:after_E1 0.968037 985 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTOA ENST00000646100.2 84 61 32 0 23 29 163 OTOA:single_exon:E19 0.107143 136 OTOA:exon_block:E16-E20 0.321429 578 OTOA:boundary_CDS_coverage:after_E1 1.000000 3417 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTOF ENST00000272371.7 355 248 137 7 98 47 270 OTOF:single_exon:E14 0.056338 187 OTOF:exon_block:E41-E45 0.154930 710 OTOF:boundary_CDS_coverage:after_E1 0.991549 5912 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTOG ENST00000399397.6 130 106 39 0 24 56 325 OTOG:single_exon:E36 0.169231 1769 OTOG:exon_block:E36-E40 0.261538 2358 OTOG:boundary_CDS_coverage:after_E1 0.984615 8645 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTOGL ENST00000547103.7 99 78 35 0 21 59 343 OTOGL:single_exon:E26 0.050505 139 OTOGL:exon_block:E43-E47 0.161616 946 OTOGL:boundary_CDS_coverage:after_E1 1.000000 7059 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTOP2 ENST00000331427.9 1 0 0 0 0 7 31 OTOP2:single_exon:E4 0.000000 59 OTOP2:exon_block:E4-E5 0.000000 193 OTOP2:boundary_CDS_coverage:after_E6 0.000000 168 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTUD5 ENST00000376488.8 9 8 2 0 1 9 43 OTUD5:single_exon:E8 0.222222 114 OTUD5:exon_block:E4-E8 0.777778 826 OTUD5:boundary_CDS_coverage:after_E1 1.000000 1104 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTUD6B ENST00000404789.8 20 17 5 0 3 7 31 OTUD6B:single_exon:E4 0.400000 313 OTUD6B:exon_block:E2-E6 0.950000 715 OTUD6B:boundary_CDS_coverage:after_E1 0.950000 797 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTUD7A ENST00000307050.6 3 2 1 0 1 13 67 OTUD7A:single_exon:E8 0.333333 113 OTUD7A:exon_block:E7-E10 1.000000 519 OTUD7A:boundary_CDS_coverage:after_E6 1.000000 2147 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTULIN ENST00000284274.5 17 9 3 0 3 7 31 OTULIN:single_exon:E6 0.235294 270 OTULIN:exon_block:E3-E7 0.647059 7632 OTULIN:boundary_CDS_coverage:after_E2 0.941176 827 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OTX2 ENST00000672264.2 59 58 3 0 1 5 19 OTX2:single_exon:E5 0.762712 2451 OTX2:exon_block:E3-E5 1.000000 2843 OTX2:boundary_CDS_coverage:after_E1 1.000000 891 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OVOL2 ENST00000278780.7 4 0 1 1 0 4 13 OVOL2:single_exon:E1 0.250000 382 OVOL2:exon_block:E1-E2 0.250000 603 OVOL2:boundary_CDS_coverage:after_E3 0.000000 314 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OXA1L ENST00000612549.6 3 2 1 1 0 10 49 OXA1L:single_exon:E4 0.333333 144 OXA1L:exon_block:E3-E4 0.666667 358 OXA1L:boundary_CDS_coverage:after_E2 1.000000 1080 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OXCT1 ENST00000196371.10 22 16 9 0 6 17 91 OXCT1:single_exon:E15 0.227273 81 OXCT1:exon_block:E11-E15 0.409091 369 OXCT1:boundary_CDS_coverage:after_E2 1.000000 1373 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OXGR1 ENST00000541038.2 4 4 0 0 0 4 13 OXGR1:single_exon:E4 1.000000 2121 OXGR1:exon_block:E3-E4 1.000000 2173 OXGR1:boundary_CDS_coverage:after_E1 1.000000 1011 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OXR1 ENST00000517566.7 2 1 1 0 1 17 91 OXR1:single_exon:E13 0.500000 126 OXR1:exon_block:E9-E13 1.000000 1303 OXR1:boundary_CDS_coverage:after_E8 1.000000 1759 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OXSM ENST00000280701.8 1 1 0 0 0 3 8 OXSM:single_exon:E3 1.000000 440 OXSM:exon_block:E2-E3 1.000000 1448 OXSM:boundary_CDS_coverage:after_E2 1.000000 400 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true OXTR ENST00000316793.8 16 0 0 0 0 4 13 OXTR:single_exon:E2 0.000000 96 OXTR:exon_block:E1-E2 0.000000 479 OXTR:boundary_CDS_coverage:after_E3 1.000000 245 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P2RX2 ENST00000643471.2 5 5 4 0 0 11 55 P2RX2:single_exon:E10 0.400000 66 P2RX2:exon_block:E1-E2 0.600000 350 P2RX2:boundary_CDS_coverage:after_E1 0.800000 1240 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P2RY12 ENST00000302632.4 20 5 0 0 15 3 8 P2RY12:single_exon:E3 0.250000 2017 P2RY12:exon_block:E2-E3 0.250000 2182 P2RY12:boundary_CDS_coverage:after_E1 1.000000 1026 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P2RY8 ENST00000381297.10 1 1 0 0 0 2 4 P2RY8:single_exon:E2 1.000000 4002 P2RY8:exon_block:E1-E2 1.000000 4267 P2RY8:boundary_CDS_coverage:after_E1 1.000000 1077 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P3H1 ENST00000296388.10 140 102 46 1 37 15 79 P3H1:single_exon:E1 0.121429 522 P3H1:exon_block:E1-E5 0.385714 1137 P3H1:boundary_CDS_coverage:after_E1 0.885714 1743 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P3H2 ENST00000319332.10 53 43 16 0 10 15 79 P3H2:single_exon:E1 0.283019 646 P3H2:exon_block:E1-E5 0.452830 1264 P3H2:boundary_CDS_coverage:after_E1 0.735849 1644 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P4HA1 ENST00000394890.7 1 0 0 0 1 15 79 P4HA1:single_exon:E11 0.000000 54 P4HA1:exon_block:E11-E12 0.000000 120 P4HA1:boundary_CDS_coverage:after_E9 1.000000 454 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P4HA2 ENST00000360568.8 4 3 0 0 1 15 79 P4HA2:single_exon:E5 0.250000 138 P4HA2:exon_block:E5-E7 0.750000 572 P4HA2:boundary_CDS_coverage:after_E4 1.000000 1268 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P4HB ENST00000331483.9 3 3 1 0 0 11 55 P4HB:single_exon:E9 0.666667 182 P4HB:exon_block:E9-E10 0.666667 269 P4HB:boundary_CDS_coverage:after_E1 1.000000 1379 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true P4HTM ENST00000383729.9 13 10 3 0 3 9 43 P4HTM:single_exon:E8 0.307692 124 P4HTM:exon_block:E4-E8 0.692308 661 P4HTM:boundary_CDS_coverage:after_E2 0.923077 1070 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PABPC1 ENST00000318607.10 2 2 1 0 0 15 78 PABPC1:single_exon:E12 0.500000 85 PABPC1:exon_block:E12-E13 0.500000 216 PABPC1:boundary_CDS_coverage:after_E11 0.500000 306 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PABPC1L ENST00000217073.7 10 10 0 0 0 15 78 PABPC1L:single_exon:E8 0.300000 267 PABPC1L:exon_block:E4-E8 0.700000 736 PABPC1L:boundary_CDS_coverage:after_E1 0.900000 1664 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PABPN1 ENST00000216727.9 12 12 0 0 0 7 31 PABPN1:single_exon:E1 1.000000 364 PABPN1:exon_block:E1-E2 1.000000 479 PABPN1:boundary_CDS_coverage:after_E6 0.000000 37 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PACRG ENST00000366888.7 3 0 0 0 0 5 19 PACRG:single_exon:E2 0.000000 135 PACRG:exon_block:E2-E3 0.000000 307 PACRG:boundary_CDS_coverage:after_E4 0.000000 158 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PACS1 ENST00000320580.9 6 5 1 0 1 24 133 PACS1:single_exon:E23 0.166667 120 PACS1:exon_block:E1-E5 0.500000 1020 PACS1:boundary_CDS_coverage:after_E3 0.833333 2355 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PACS2 ENST00000447393.6 2 2 0 0 0 25 139 PACS2:single_exon:E6 1.000000 74 PACS2:exon_block:E6-E7 1.000000 155 PACS2:boundary_CDS_coverage:after_E5 1.000000 2126 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PACSIN3 ENST00000298838.11 3 3 1 0 0 11 55 PACSIN3:single_exon:E6 0.333333 156 PACSIN3:exon_block:E5-E7 1.000000 568 PACSIN3:boundary_CDS_coverage:after_E4 1.000000 1061 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PADI3 ENST00000375460.3 8 6 2 0 2 16 85 PADI3:single_exon:E3 0.250000 73 PADI3:exon_block:E3-E6 0.500000 379 PADI3:boundary_CDS_coverage:after_E2 1.000000 1719 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PADI6 ENST00000619609.1 20 18 7 0 2 16 85 PADI6:single_exon:E9 0.150000 112 PADI6:exon_block:E6-E10 0.500000 629 PADI6:boundary_CDS_coverage:after_E3 0.900000 1715 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAEP ENST00000479141.6 1 0 0 0 1 7 30 PAEP:single_exon:E6 0.000000 17 PAEP:exon_block:E5-E6 0.000000 122 PAEP:boundary_CDS_coverage:after_E3 1.000000 230 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAFAH1B1 ENST00000397195.10 182 149 57 1 32 11 55 PAFAH1B1:single_exon:E8 0.181319 229 PAFAH1B1:exon_block:E6-E10 0.664835 760 PAFAH1B1:boundary_CDS_coverage:after_E1 1.000000 1230 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAFAH1B3 ENST00000262890.8 1 0 0 0 0 5 19 PAFAH1B3:single_exon:E2 0.000000 90 PAFAH1B3:exon_block:E2-E3 0.000000 207 PAFAH1B3:boundary_CDS_coverage:after_E4 1.000000 285 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAGE2B ENST00000374971.2 2 0 0 0 0 5 19 PAGE2B:single_exon:E1 0.000000 85 PAGE2B:exon_block:E1-E2 0.000000 177 PAGE2B:boundary_CDS_coverage:after_E4 0.000000 14 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAGR1 ENST00000320330.8 1 0 0 0 0 3 8 PAGR1:single_exon:E2 0.000000 83 PAGR1:exon_block:E1-E2 0.000000 939 PAGR1:boundary_CDS_coverage:after_E2 0.000000 197 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAH ENST00000553106.6 886 760 267 1 124 13 67 PAH:single_exon:E6 0.161400 197 PAH:exon_block:E3-E7 0.516930 674 PAH:boundary_CDS_coverage:after_E1 0.979684 1296 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAICS ENST00000512576.3 3 3 0 0 0 9 43 PAICS:single_exon:E4 0.333333 180 PAICS:exon_block:E2-E4 0.666667 557 PAICS:boundary_CDS_coverage:after_E1 1.000000 1259 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAK1 ENST00000356341.8 25 25 5 0 0 15 79 PAK1:single_exon:E4 0.440000 148 PAK1:exon_block:E3-E4 0.560000 249 PAK1:boundary_CDS_coverage:after_E2 1.000000 1445 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAK2 ENST00000327134.7 3 3 0 0 0 15 79 PAK2:single_exon:E13 0.666667 197 PAK2:exon_block:E10-E13 1.000000 528 PAK2:boundary_CDS_coverage:after_E9 1.000000 750 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAK3 ENST00000372007.10 30 25 8 0 5 18 97 PAK3:single_exon:E16 0.266667 197 PAK3:exon_block:E13-E17 0.533333 666 PAK3:boundary_CDS_coverage:after_E5 1.000000 1457 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAK6 ENST00000560346.6 1 0 0 0 0 11 55 PAK6:single_exon:E2 0.000000 83 PAK6:exon_block:E2-E3 0.000000 195 PAK6:boundary_CDS_coverage:after_E10 0.000000 165 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PALB2 ENST00000261584.9 1420 1308 198 1 111 13 67 PALB2:single_exon:E4 0.400000 1473 PALB2:exon_block:E4-E8 0.704930 2623 PALB2:boundary_CDS_coverage:after_E1 0.980986 3510 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PALS1 ENST00000261681.9 1 1 1 0 0 15 79 PALS1:single_exon:E10 1.000000 72 PALS1:exon_block:E10-E11 1.000000 144 PALS1:boundary_CDS_coverage:after_E9 1.000000 800 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAM16 ENST00000318059.8 2 2 2 0 0 5 19 PAM16:single_exon:E4 0.500000 66 PAM16:exon_block:E3-E4 1.000000 203 PAM16:boundary_CDS_coverage:after_E2 1.000000 287 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAN2 ENST00000440411.8 6 5 2 0 1 26 145 PAN2:single_exon:E16 0.166667 74 PAN2:exon_block:E22-E25 0.666667 616 PAN2:boundary_CDS_coverage:after_E4 1.000000 3021 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PANK2 ENST00000610179.7 138 118 23 2 17 7 31 PANK2:single_exon:E2 0.202899 353 PANK2:exon_block:E1-E5 0.818841 1250 PANK2:boundary_CDS_coverage:after_E1 0.855072 1082 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PANK4 ENST00000378466.9 1 0 0 0 1 19 103 PANK4:single_exon:E15 0.000000 50 PANK4:exon_block:E14-E15 0.000000 106 PANK4:boundary_CDS_coverage:after_E4 1.000000 1713 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PANX1 ENST00000227638.8 4 4 0 0 0 5 19 PANX1:single_exon:E4 0.750000 656 PANX1:exon_block:E1-E4 1.000000 1673 PANX1:boundary_CDS_coverage:after_E3 0.750000 733 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAPPA2 ENST00000367662.5 10 10 2 0 0 23 127 PAPPA2:single_exon:E3 0.300000 1072 PAPPA2:exon_block:E3-E7 0.500000 1827 PAPPA2:boundary_CDS_coverage:after_E2 1.000000 4454 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAPSS2 ENST00000456849.2 39 33 9 0 6 13 67 PAPSS2:single_exon:E11 0.179487 269 PAPSS2:exon_block:E2-E6 0.487179 726 PAPSS2:boundary_CDS_coverage:after_E1 1.000000 1830 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PARD3 ENST00000374788.8 2 2 0 0 0 25 139 PARD3:single_exon:E16 0.500000 190 PARD3:exon_block:E16-E19 1.000000 615 PARD3:boundary_CDS_coverage:after_E15 1.000000 1841 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PARD3B ENST00000406610.7 1 1 0 0 0 23 127 PARD3B:single_exon:E23 1.000000 4707 PARD3B:exon_block:E22-E23 1.000000 4787 PARD3B:boundary_CDS_coverage:after_E22 1.000000 355 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PARK7 ENST00000338639.10 16 15 8 0 1 7 31 PARK7:single_exon:E3 0.437500 102 PARK7:exon_block:E2-E5 0.812500 345 PARK7:boundary_CDS_coverage:after_E1 1.000000 567 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PARN ENST00000437198.7 83 51 45 0 32 24 133 PARN:single_exon:E22 0.108434 190 PARN:exon_block:E7-E11 0.253012 395 PARN:boundary_CDS_coverage:after_E1 1.000000 1898 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PARP10 ENST00000313028.12 1 1 0 0 0 11 55 PARP10:single_exon:E4 1.000000 237 PARP10:exon_block:E3-E4 1.000000 492 PARP10:boundary_CDS_coverage:after_E3 1.000000 2639 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PARS2 ENST00000371279.4 7 7 0 0 0 2 4 PARS2:single_exon:E2 1.000000 2293 PARS2:exon_block:E1-E2 1.000000 2356 PARS2:boundary_CDS_coverage:after_E1 1.000000 1425 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PATL2 ENST00000682850.1 14 9 9 0 5 18 97 PATL2:single_exon:E9 0.285714 142 PATL2:exon_block:E5-E9 0.714286 641 PATL2:boundary_CDS_coverage:after_E4 1.000000 1613 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAX1 ENST00000613128.5 23 21 1 0 2 5 19 PAX1:single_exon:E1 0.434783 335 PAX1:exon_block:E1-E4 0.956522 1331 PAX1:boundary_CDS_coverage:after_E1 0.565217 1085 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAX2 ENST00000355243.8 140 120 43 1 19 10 49 PAX2:single_exon:E3 0.335714 198 PAX2:exon_block:E2-E6 0.792857 749 PAX2:boundary_CDS_coverage:after_E1 0.992857 1139 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAX3 ENST00000392070.7 189 167 33 2 20 9 43 PAX3:single_exon:E2 0.359788 236 PAX3:exon_block:E2-E6 0.851852 873 PAX3:boundary_CDS_coverage:after_E1 0.973545 1367 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAX5 ENST00000358127.9 18 17 4 0 1 10 49 PAX5:single_exon:E3 0.222222 198 PAX5:exon_block:E2-E6 0.666667 734 PAX5:boundary_CDS_coverage:after_E1 1.000000 1127 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAX6 ENST00000640368.2 429 339 150 5 85 14 73 PAX6:single_exon:E7 0.221445 216 PAX6:exon_block:E5-E9 0.617716 714 PAX6:boundary_CDS_coverage:after_E1 1.000000 1308 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAX7 ENST00000420770.7 5 4 1 0 1 9 43 PAX7:single_exon:E2 0.600000 236 PAX7:exon_block:E2-E5 1.000000 701 PAX7:boundary_CDS_coverage:after_E1 1.000000 1430 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAX8 ENST00000429538.8 25 23 5 0 2 12 61 PAX8:single_exon:E3 0.440000 166 PAX8:exon_block:E3-E7 0.880000 752 PAX8:boundary_CDS_coverage:after_E2 1.000000 1325 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PAX9 ENST00000361487.7 59 58 8 0 1 4 13 PAX9:single_exon:E2 0.830508 627 PAX9:exon_block:E1-E4 1.000000 4166 PAX9:boundary_CDS_coverage:after_E1 0.932203 1019 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PBRM1 ENST00000707071.1 1 1 0 0 0 32 181 PBRM1:single_exon:E26 1.000000 211 PBRM1:exon_block:E25-E26 1.000000 395 PBRM1:boundary_CDS_coverage:after_E25 1.000000 1192 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PBX1 ENST00000420696.7 68 62 18 0 6 9 43 PBX1:single_exon:E4 0.279412 191 PBX1:exon_block:E2-E6 0.867647 806 PBX1:boundary_CDS_coverage:after_E1 0.882353 1099 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PBX3 ENST00000373489.10 3 3 1 0 0 9 43 PBX3:single_exon:E6 0.666667 166 PBX3:exon_block:E2-E6 1.000000 809 PBX3:boundary_CDS_coverage:after_E1 1.000000 1102 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PC ENST00000393960.7 180 148 46 0 32 23 127 PC:single_exon:E12 0.072222 183 PC:exon_block:E17-E21 0.333333 1165 PC:boundary_CDS_coverage:after_E1 1.000000 3534 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCARE ENST00000331664.6 151 150 1 0 1 2 4 PCARE:single_exon:E1 0.986755 3930 PCARE:exon_block:E1-E2 1.000000 7303 PCARE:boundary_CDS_coverage:after_E1 0.019868 196 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCBD1 ENST00000299299.4 17 15 3 0 2 4 13 PCBD1:single_exon:E2 0.352941 132 PCBD1:exon_block:E1-E4 1.000000 787 PCBD1:boundary_CDS_coverage:after_E1 0.941176 309 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCBP1 ENST00000303577.7 1 1 0 0 0 1 1 PCBP1:single_exon:E1 1.000000 1727 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCCA ENST00000376285.6 298 211 129 0 87 24 133 PCCA:single_exon:E13 0.087248 144 PCCA:exon_block:E9-E13 0.305369 572 PCCA:boundary_CDS_coverage:after_E1 0.953020 2079 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCCB ENST00000251654.9 266 200 88 3 62 15 79 PCCB:single_exon:E1 0.131579 219 PCCB:exon_block:E11-E15 0.372180 673 PCCB:boundary_CDS_coverage:after_E1 0.883459 1434 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDH1 ENST00000287008.8 1 1 0 0 0 5 19 PCDH1:single_exon:E2 1.000000 863 PCDH1:exon_block:E1-E2 1.000000 1051 PCDH1:boundary_CDS_coverage:after_E1 1.000000 3671 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDH12 ENST00000231484.4 31 31 0 0 0 4 13 PCDH12:single_exon:E1 0.967742 3231 PCDH12:exon_block:E1-E3 1.000000 3481 PCDH12:boundary_CDS_coverage:after_E2 0.032258 574 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDH15 ENST00000644397.2 514 326 154 0 188 38 217 PCDH15:single_exon:E14 0.042802 194 PCDH15:exon_block:E26-E30 0.182879 829 PCDH15:boundary_CDS_coverage:after_E1 1.000000 5220 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDH19 ENST00000373034.8 433 419 20 0 14 6 25 PCDH19:single_exon:E1 0.847575 3823 PCDH19:exon_block:E1-E5 0.974596 4524 PCDH19:boundary_CDS_coverage:after_E1 0.159353 1297 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGA12 ENST00000252085.4 10 0 0 0 10 4 13 PCDHGA12:single_exon:E2 0.000000 59 PCDHGA12:exon_block:E2-E3 0.000000 148 PCDHGA12:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGA8 ENST00000398604.3 10 0 0 0 10 4 13 PCDHGA8:single_exon:E2 0.000000 59 PCDHGA8:exon_block:E2-E3 0.000000 148 PCDHGA8:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGB2 ENST00000522605.2 10 0 0 0 10 4 13 PCDHGB2:single_exon:E2 0.000000 59 PCDHGB2:exon_block:E2-E3 0.000000 148 PCDHGB2:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGB3 ENST00000576222.2 10 0 0 0 10 4 13 PCDHGB3:single_exon:E2 0.000000 59 PCDHGB3:exon_block:E2-E3 0.000000 148 PCDHGB3:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGB4 ENST00000519479.2 10 0 0 0 10 4 13 PCDHGB4:single_exon:E2 0.000000 59 PCDHGB4:exon_block:E2-E3 0.000000 148 PCDHGB4:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGB5 ENST00000617380.2 10 0 0 0 10 4 13 PCDHGB5:single_exon:E2 0.000000 59 PCDHGB5:exon_block:E2-E3 0.000000 148 PCDHGB5:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGB6 ENST00000520790.2 10 0 0 0 10 4 13 PCDHGB6:single_exon:E2 0.000000 59 PCDHGB6:exon_block:E2-E3 0.000000 148 PCDHGB6:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGB7 ENST00000398594.4 10 0 0 0 10 4 13 PCDHGB7:single_exon:E2 0.000000 59 PCDHGB7:exon_block:E2-E3 0.000000 148 PCDHGB7:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGC3 ENST00000308177.5 10 0 0 0 10 4 13 PCDHGC3:single_exon:E2 0.000000 59 PCDHGC3:exon_block:E2-E3 0.000000 148 PCDHGC3:boundary_CDS_coverage:after_E1 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCDHGC4 ENST00000306593.2 10 10 0 0 0 4 13 PCDHGC4:single_exon:E1 1.000000 2586 PCDHGC4:exon_block:E1-E2 1.000000 2645 PCDHGC4:boundary_CDS_coverage:after_E3 0.000000 224 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCGF2 ENST00000620225.5 3 3 0 0 0 11 55 PCGF2:single_exon:E4 1.000000 97 PCGF2:exon_block:E4-E5 1.000000 153 PCGF2:boundary_CDS_coverage:after_E3 1.000000 920 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCK1 ENST00000319441.6 5 4 1 0 1 10 49 PCK1:single_exon:E8 0.200000 132 PCK1:exon_block:E4-E8 0.800000 912 PCK1:boundary_CDS_coverage:after_E3 1.000000 1460 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCK2 ENST00000216780.9 3 3 3 0 0 10 49 PCK2:single_exon:E3 1.000000 185 PCK2:exon_block:E3-E4 1.000000 389 PCK2:boundary_CDS_coverage:after_E2 1.000000 1645 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCLO ENST00000333891.14 73 69 8 0 4 25 139 PCLO:single_exon:E5 0.246575 5080 PCLO:exon_block:E2-E6 0.712329 10864 PCLO:boundary_CDS_coverage:after_E1 1.000000 15178 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCNA ENST00000379143.10 1 1 0 0 0 6 25 PCNA:single_exon:E4 1.000000 195 PCNA:exon_block:E3-E4 1.000000 263 PCNA:boundary_CDS_coverage:after_E3 1.000000 396 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCNT ENST00000359568.10 350 290 82 0 60 47 271 PCNT:single_exon:E38 0.077143 687 PCNT:exon_block:E35-E39 0.180000 1502 PCNT:boundary_CDS_coverage:after_E1 0.997143 9954 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCNX3 ENST00000355703.4 1 1 0 0 0 35 199 PCNX3:single_exon:E2 1.000000 188 PCNX3:exon_block:E2-E3 1.000000 288 PCNX3:boundary_CDS_coverage:after_E1 1.000000 5949 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCSK1 ENST00000311106.8 38 32 6 0 6 14 73 PCSK1:single_exon:E8 0.236842 213 PCSK1:exon_block:E6-E10 0.605263 810 PCSK1:boundary_CDS_coverage:after_E1 0.921053 2079 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCSK9 ENST00000302118.5 18 17 2 0 1 12 61 PCSK9:single_exon:E2 0.277778 192 PCSK9:exon_block:E1-E4 0.611111 947 PCSK9:boundary_CDS_coverage:after_E1 0.833333 1869 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCYT1A ENST00000431016.6 14 14 2 0 0 9 43 PCYT1A:single_exon:E5 0.357143 152 PCYT1A:exon_block:E4-E8 0.785714 680 PCYT1A:boundary_CDS_coverage:after_E1 1.000000 1101 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PCYT2 ENST00000538936.7 11 9 8 0 2 13 67 PCYT2:single_exon:E8 0.181818 83 PCYT2:exon_block:E8-E12 0.545455 382 PCYT2:boundary_CDS_coverage:after_E4 0.909091 760 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDCD10 ENST00000392750.7 81 59 33 0 22 9 43 PDCD10:single_exon:E6 0.234568 127 PDCD10:exon_block:E5-E9 0.839506 1499 PDCD10:boundary_CDS_coverage:after_E1 1.000000 636 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDCD6IP ENST00000307296.8 1 1 0 0 0 18 97 PDCD6IP:single_exon:E1 1.000000 308 PDCD6IP:exon_block:E1-E2 1.000000 363 PDCD6IP:boundary_CDS_coverage:after_E17 0.000000 172 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDCL2 ENST00000295645.9 1 0 1 0 1 6 25 PDCL2:single_exon:E3 1.000000 91 PDCL2:exon_block:E2-E3 1.000000 212 PDCL2:boundary_CDS_coverage:after_E2 1.000000 596 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE10A ENST00000539869.4 11 11 3 0 0 22 121 PDE10A:single_exon:E12 0.181818 93 PDE10A:exon_block:E11-E14 0.454545 566 PDE10A:boundary_CDS_coverage:after_E3 1.000000 2142 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE11A ENST00000286063.11 10 9 2 0 1 20 109 PDE11A:single_exon:E4 0.200000 141 PDE11A:exon_block:E11-E15 0.500000 557 PDE11A:boundary_CDS_coverage:after_E2 0.900000 1728 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE1C ENST00000396191.6 4 3 1 0 0 18 97 PDE1C:single_exon:E17 0.250000 69 PDE1C:exon_block:E17-E18 0.500000 2444 PDE1C:boundary_CDS_coverage:after_E7 0.750000 1377 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE2A ENST00000334456.10 9 5 6 0 4 31 175 PDE2A:single_exon:E25 0.111111 48 PDE2A:exon_block:E22-E26 0.444444 405 PDE2A:boundary_CDS_coverage:after_E4 1.000000 2500 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE3A ENST00000359062.4 9 9 0 0 0 16 85 PDE3A:single_exon:E4 0.888889 155 PDE3A:exon_block:E4-E5 0.888889 271 PDE3A:boundary_CDS_coverage:after_E3 1.000000 2154 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE3B ENST00000282096.9 30 0 0 0 0 16 85 PDE3B:single_exon:E2 0.000000 51 PDE3B:exon_block:E7-E8 0.000000 223 PDE3B:boundary_CDS_coverage:after_E15 1.000000 197 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE4D ENST00000340635.11 25 25 7 0 0 15 79 PDE4D:single_exon:E3 0.240000 37 PDE4D:exon_block:E3-E7 0.600000 368 PDE4D:boundary_CDS_coverage:after_E1 1.000000 1972 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE4DIP ENST00000695795.1 3 2 0 0 1 47 271 PDE4DIP:single_exon:E28 0.333333 193 PDE4DIP:exon_block:E28-E31 0.666667 1078 PDE4DIP:boundary_CDS_coverage:after_E8 1.000000 6402 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE6A ENST00000255266.10 125 91 47 0 34 22 121 PDE6A:single_exon:E1 0.112000 594 PDE6A:exon_block:E9-E13 0.336000 615 PDE6A:boundary_CDS_coverage:after_E1 0.888000 2106 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE6B ENST00000496514.6 176 130 68 1 45 22 121 PDE6B:single_exon:E1 0.130682 522 PDE6B:exon_block:E12-E16 0.306818 554 PDE6B:boundary_CDS_coverage:after_E1 0.880682 2094 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE6C ENST00000371447.4 104 79 44 0 25 22 121 PDE6C:single_exon:E1 0.163462 669 PDE6C:exon_block:E1-E5 0.394231 1128 PDE6C:boundary_CDS_coverage:after_E1 0.855769 2094 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE6D ENST00000287600.9 8 7 4 0 1 5 19 PDE6D:single_exon:E3 0.375000 126 PDE6D:exon_block:E1-E4 1.000000 539 PDE6D:boundary_CDS_coverage:after_E1 0.875000 400 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE6G ENST00000331056.10 4 2 2 0 2 4 13 PDE6G:single_exon:E2 0.750000 205 PDE6G:exon_block:E2-E3 1.000000 246 PDE6G:boundary_CDS_coverage:after_E1 1.000000 261 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDE8B ENST00000264917.10 11 11 0 0 0 22 121 PDE8B:single_exon:E1 0.545455 585 PDE8B:exon_block:E1-E2 0.545455 645 PDE8B:boundary_CDS_coverage:after_E7 0.454545 1779 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDGFB ENST00000331163.11 25 15 4 4 6 7 30 PDGFB:single_exon:E1 0.360000 1082 PDGFB:exon_block:E1-E5 0.840000 1620 PDGFB:boundary_CDS_coverage:after_E1 0.680000 660 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDGFRA ENST00000257290.10 7 7 1 0 0 23 127 PDGFRA:single_exon:E12 0.571429 133 PDGFRA:exon_block:E12-E14 0.714286 349 PDGFRA:boundary_CDS_coverage:after_E11 1.000000 1614 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDGFRB ENST00000261799.9 27 27 6 0 0 23 127 PDGFRB:single_exon:E12 0.333333 133 PDGFRB:exon_block:E10-E14 0.666667 656 PDGFRB:boundary_CDS_coverage:after_E1 1.000000 3318 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDGFRL ENST00000251630.11 1 1 0 0 0 6 25 PDGFRL:single_exon:E2 1.000000 298 PDGFRL:exon_block:E1-E2 1.000000 390 PDGFRL:boundary_CDS_coverage:after_E1 1.000000 1070 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDHA1 ENST00000422285.7 395 357 82 1 37 11 55 PDHA1:single_exon:E11 0.255696 2230 PDHA1:exon_block:E7-E11 0.703797 2635 PDHA1:boundary_CDS_coverage:after_E1 0.992405 1113 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDHA2 ENST00000295266.6 1 1 0 0 0 1 1 PDHA2:single_exon:E1 1.000000 1372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDHB ENST00000302746.11 45 37 14 0 8 10 49 PDHB:single_exon:E6 0.377778 286 PDHB:exon_block:E5-E9 0.755556 667 PDHB:boundary_CDS_coverage:after_E1 0.955556 1035 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDHX ENST00000227868.9 37 28 8 0 8 11 55 PDHX:single_exon:E6 0.189189 175 PDHX:exon_block:E4-E8 0.486486 681 PDHX:boundary_CDS_coverage:after_E1 0.837838 1343 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDIA6 ENST00000272227.8 1 1 1 0 0 13 67 PDIA6:single_exon:E8 1.000000 141 PDIA6:exon_block:E8-E9 1.000000 226 PDIA6:boundary_CDS_coverage:after_E7 1.000000 621 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDK3 ENST00000379162.9 1 1 0 0 0 11 55 PDK3:single_exon:E7 1.000000 77 PDK3:exon_block:E6-E7 1.000000 155 PDK3:boundary_CDS_coverage:after_E6 1.000000 545 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDP1 ENST00000297598.5 6 6 0 0 0 2 4 PDP1:single_exon:E2 1.000000 4053 PDP1:exon_block:E1-E2 1.000000 4210 PDP1:boundary_CDS_coverage:after_E1 1.000000 1611 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDSS1 ENST00000376215.10 15 14 4 0 1 12 61 PDSS1:single_exon:E7 0.333333 112 PDSS1:exon_block:E7-E10 0.533333 417 PDSS1:boundary_CDS_coverage:after_E2 0.866667 1083 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDSS2 ENST00000369037.9 6 5 2 0 1 8 37 PDSS2:single_exon:E6 0.333333 132 PDSS2:exon_block:E2-E6 0.666667 712 PDSS2:boundary_CDS_coverage:after_E1 0.666667 901 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDX1 ENST00000381033.5 14 14 0 0 0 2 4 PDX1:single_exon:E2 0.928571 2058 PDX1:exon_block:E1-E2 1.000000 2603 PDX1:boundary_CDS_coverage:after_E1 0.928571 443 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDXK ENST00000291565.9 4 3 0 0 1 11 55 PDXK:single_exon:E9 0.500000 137 PDXK:exon_block:E9-E10 0.500000 204 PDXK:boundary_CDS_coverage:after_E2 1.000000 794 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDYN ENST00000217305.3 2 2 0 0 0 4 13 PDYN:single_exon:E4 1.000000 2200 PDYN:exon_block:E3-E4 1.000000 2348 PDYN:boundary_CDS_coverage:after_E3 1.000000 633 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDZD7 ENST00000619208.6 102 90 20 0 12 17 91 PDZD7:single_exon:E15 0.245098 612 PDZD7:exon_block:E11-E15 0.392157 1044 PDZD7:boundary_CDS_coverage:after_E1 1.000000 3099 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDZD8 ENST00000334464.7 2 2 0 0 0 5 19 PDZD8:single_exon:E2 0.500000 123 PDZD8:exon_block:E2-E5 1.000000 8587 PDZD8:boundary_CDS_coverage:after_E1 1.000000 2590 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDZD9 ENST00000424898.3 7 0 0 0 0 4 13 PDZD9:single_exon:E1 0.000000 100 PDZD9:exon_block:E1-E2 0.000000 280 PDZD9:boundary_CDS_coverage:after_E3 1.000000 391 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PDZRN3 ENST00000263666.9 3 2 2 0 1 10 49 PDZRN3:single_exon:E8 0.333333 102 PDZRN3:exon_block:E8-E10 0.666667 2719 PDZRN3:boundary_CDS_coverage:after_E2 1.000000 2388 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEPD ENST00000244137.12 77 48 41 0 29 15 79 PEPD:single_exon:E13 0.103896 185 PEPD:exon_block:E10-E14 0.415584 673 PEPD:boundary_CDS_coverage:after_E1 0.961039 1462 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PER2 ENST00000254657.8 2 2 0 0 0 23 127 PER2:single_exon:E17 0.500000 165 PER2:exon_block:E6-E7 0.500000 254 PER2:boundary_CDS_coverage:after_E5 1.000000 3195 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PER3 ENST00000377532.8 3 2 0 0 1 22 121 PER3:single_exon:E7 0.333333 149 PER3:exon_block:E6-E7 0.333333 201 PER3:boundary_CDS_coverage:after_E6 1.000000 2986 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PERCC1 ENST00000640283.2 5 3 0 0 0 2 4 PERCC1:single_exon:E2 0.600000 1895 PERCC1:exon_block:E1-E2 0.600000 1926 PERCC1:boundary_CDS_coverage:after_E1 0.600000 801 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PERM1 ENST00000433179.4 1 1 0 0 0 4 13 PERM1:single_exon:E3 1.000000 126 PERM1:exon_block:E3-E4 1.000000 1198 PERM1:boundary_CDS_coverage:after_E2 1.000000 221 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PERP ENST00000421351.4 6 6 0 0 0 3 8 PERP:single_exon:E3 0.833333 3764 PERP:exon_block:E1-E3 1.000000 4198 PERP:boundary_CDS_coverage:after_E2 0.833333 224 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PET100 ENST00000594797.6 11 8 5 0 3 4 13 PET100:single_exon:E1 0.454545 68 PET100:exon_block:E1-E4 1.000000 663 PET100:boundary_CDS_coverage:after_E1 0.545455 192 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PET117 ENST00000432901.4 1 1 0 0 0 2 4 PET117:single_exon:E2 1.000000 962 PET117:exon_block:E1-E2 1.000000 1151 PET117:boundary_CDS_coverage:after_E1 1.000000 147 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX1 ENST00000248633.9 469 391 134 0 78 24 133 PEX1:single_exon:E5 0.189765 767 PEX1:exon_block:E1-E5 0.304904 1324 PEX1:boundary_CDS_coverage:after_E1 0.965885 3720 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX10 ENST00000447513.7 142 113 28 0 29 6 25 PEX10:single_exon:E3 0.330986 407 PEX10:exon_block:E1-E5 0.922535 974 PEX10:boundary_CDS_coverage:after_E1 0.873239 866 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX11B ENST00000369306.8 14 13 3 0 1 4 13 PEX11B:single_exon:E2 0.357143 116 PEX11B:exon_block:E1-E4 1.000000 1620 PEX11B:boundary_CDS_coverage:after_E1 0.857143 721 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX12 ENST00000225873.9 118 109 14 0 9 3 8 PEX12:single_exon:E2 0.449153 554 PEX12:exon_block:E1-E3 0.991525 2617 PEX12:boundary_CDS_coverage:after_E1 0.847458 951 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX13 ENST00000295030.6 44 39 4 1 4 4 13 PEX13:single_exon:E2 0.681818 695 PEX13:exon_block:E1-E4 1.000000 4472 PEX13:boundary_CDS_coverage:after_E1 0.909091 1117 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX14 ENST00000356607.9 8 3 4 0 5 9 43 PEX14:single_exon:E7 0.250000 98 PEX14:exon_block:E3-E7 0.750000 501 PEX14:boundary_CDS_coverage:after_E1 1.000000 1095 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX16 ENST00000378750.10 42 31 16 1 10 11 55 PEX16:single_exon:E4 0.166667 134 PEX16:exon_block:E4-E8 0.523810 542 PEX16:boundary_CDS_coverage:after_E1 0.928571 896 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX19 ENST00000368072.10 25 16 11 0 9 8 37 PEX19:single_exon:E3 0.360000 166 PEX19:exon_block:E1-E5 0.840000 603 PEX19:boundary_CDS_coverage:after_E1 0.960000 827 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX2 ENST00000357039.9 93 92 1 0 1 4 13 PEX2:single_exon:E4 1.000000 3938 PEX2:exon_block:E3-E4 1.000000 4048 PEX2:boundary_CDS_coverage:after_E1 1.000000 915 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX26 ENST00000399744.8 63 55 11 1 7 5 19 PEX26:single_exon:E3 0.317460 296 PEX26:exon_block:E1-E4 1.000000 1201 PEX26:boundary_CDS_coverage:after_E1 0.714286 685 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX3 ENST00000367591.5 36 26 16 1 9 12 61 PEX3:single_exon:E2 0.194444 132 PEX3:exon_block:E2-E6 0.527778 450 PEX3:boundary_CDS_coverage:after_E1 0.944444 1046 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX5 ENST00000675855.1 77 60 22 0 17 16 85 PEX5:single_exon:E13 0.155844 213 PEX5:exon_block:E5-E9 0.389610 530 PEX5:boundary_CDS_coverage:after_E1 1.000000 1917 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX6 ENST00000304611.13 301 248 89 0 53 17 91 PEX6:single_exon:E1 0.285714 913 PEX6:exon_block:E1-E5 0.511628 1398 PEX6:boundary_CDS_coverage:after_E1 0.724252 2058 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PEX7 ENST00000318471.5 142 112 46 1 29 10 49 PEX7:single_exon:E1 0.218310 204 PEX7:exon_block:E1-E5 0.626761 600 PEX7:boundary_CDS_coverage:after_E1 0.809859 839 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PFAS ENST00000314666.11 8 2 1 0 1 28 157 PFAS:single_exon:E7 0.250000 141 PFAS:exon_block:E6-E7 0.250000 247 PFAS:boundary_CDS_coverage:after_E6 0.375000 3334 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PFKM ENST00000359794.11 134 95 59 0 38 23 127 PFKM:single_exon:E14 0.082090 150 PFKM:exon_block:E14-E18 0.328358 627 PFKM:boundary_CDS_coverage:after_E1 0.992537 2340 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PFN1 ENST00000225655.6 5 5 1 0 0 3 8 PFN1:single_exon:E3 0.600000 346 PFN1:exon_block:E2-E3 1.000000 539 PFN1:boundary_CDS_coverage:after_E1 1.000000 288 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGAM2 ENST00000297283.4 12 12 0 0 0 3 8 PGAM2:single_exon:E1 0.750000 452 PGAM2:exon_block:E1-E3 1.000000 837 PGAM2:boundary_CDS_coverage:after_E1 0.250000 345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGAP1 ENST00000354764.9 47 34 19 0 13 27 151 PGAP1:single_exon:E21 0.106383 91 PGAP1:exon_block:E21-E25 0.340426 664 PGAP1:boundary_CDS_coverage:after_E1 0.978723 2619 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGAP2 ENST00000278243.9 15 14 2 0 0 7 31 PGAP2:single_exon:E4 0.400000 253 PGAP2:exon_block:E2-E6 0.866667 827 PGAP2:boundary_CDS_coverage:after_E1 0.933333 945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGAP3 ENST00000300658.9 39 34 10 0 5 8 37 PGAP3:single_exon:E7 0.230769 205 PGAP3:exon_block:E3-E7 0.666667 620 PGAP3:boundary_CDS_coverage:after_E1 0.846154 779 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGBD5 ENST00000391860.7 4 4 0 0 0 7 31 PGBD5:single_exon:E1 0.750000 735 PGBD5:exon_block:E1-E2 0.750000 1163 PGBD5:boundary_CDS_coverage:after_E6 0.250000 193 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGGHG ENST00000409548.7 1 0 0 0 0 14 73 PGGHG:single_exon:E8 0.000000 73 PGGHG:exon_block:E7-E8 0.000000 185 PGGHG:boundary_CDS_coverage:after_E13 1.000000 191 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGK1 ENST00000373316.5 17 16 4 0 1 11 55 PGK1:single_exon:E3 0.235294 156 PGK1:exon_block:E5-E9 0.647059 697 PGK1:boundary_CDS_coverage:after_E1 1.000000 1186 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGM1 ENST00000371084.8 44 39 11 0 5 11 55 PGM1:single_exon:E10 0.227273 135 PGM1:exon_block:E6-E10 0.522727 726 PGM1:boundary_CDS_coverage:after_E1 0.818182 1440 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGM2L1 ENST00000298198.5 8 8 2 0 0 14 73 PGM2L1:single_exon:E10 0.250000 94 PGM2L1:exon_block:E9-E12 0.625000 595 PGM2L1:boundary_CDS_coverage:after_E1 0.750000 1755 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGM3 ENST00000513973.6 67 52 16 0 15 13 67 PGM3:single_exon:E12 0.119403 174 PGM3:exon_block:E2-E6 0.462687 789 PGM3:boundary_CDS_coverage:after_E1 1.000000 1626 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PGRMC1 ENST00000217971.8 2 2 0 0 0 3 8 PGRMC1:single_exon:E2 0.500000 156 PGRMC1:exon_block:E1-E2 1.000000 563 PGRMC1:boundary_CDS_coverage:after_E1 0.500000 257 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHACTR1 ENST00000332995.12 6 6 2 0 0 15 79 PHACTR1:single_exon:E11 0.333333 56 PHACTR1:exon_block:E10-E12 0.666667 275 PHACTR1:boundary_CDS_coverage:after_E3 1.000000 1637 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHC1 ENST00000544916.6 2 2 0 0 0 15 79 PHC1:single_exon:E2 0.500000 162 PHC1:exon_block:E2-E3 0.500000 273 PHC1:boundary_CDS_coverage:after_E1 1.000000 3012 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHEX ENST00000379374.5 842 651 313 5 186 22 121 PHEX:single_exon:E20 0.072447 105 PHEX:exon_block:E18-E22 0.288599 3839 PHEX:boundary_CDS_coverage:after_E1 0.975059 2129 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHF2 ENST00000359246.9 1 1 0 0 0 22 121 PHF2:single_exon:E20 1.000000 110 PHF2:exon_block:E19-E20 1.000000 206 PHF2:boundary_CDS_coverage:after_E19 1.000000 566 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHF20 ENST00000374012.8 2 2 0 0 0 18 97 PHF20:single_exon:E7 0.500000 114 PHF20:exon_block:E7-E8 0.500000 294 PHF20:boundary_CDS_coverage:after_E6 1.000000 2228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHF21A ENST00000676320.1 43 36 15 0 7 19 103 PHF21A:single_exon:E14 0.093023 61 PHF21A:exon_block:E7-E11 0.395349 942 PHF21A:boundary_CDS_coverage:after_E1 1.000000 2043 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHF3 ENST00000262043.8 169 0 0 169 0 16 85 PHF3:single_exon:E16 1.000000 14426 PHF3:exon_block:E15-E16 1.000000 14622 PHF3:boundary_CDS_coverage:after_E15 1.000000 2120 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHF5A ENST00000216252.4 2 2 0 0 0 4 13 PHF5A:single_exon:E1 0.500000 91 PHF5A:exon_block:E1-E3 1.000000 282 PHF5A:boundary_CDS_coverage:after_E2 0.500000 254 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHF6 ENST00000370803.8 55 48 18 0 7 11 54 PHF6:single_exon:E2 0.218182 184 PHF6:exon_block:E5-E9 0.563636 594 PHF6:boundary_CDS_coverage:after_E1 1.000000 1095 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHF7 ENST00000327906.8 1 0 0 0 0 11 55 PHF7:single_exon:E3 0.000000 53 PHF7:exon_block:E3-E4 0.000000 145 PHF7:boundary_CDS_coverage:after_E10 0.000000 224 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHF8 ENST00000338154.11 29 22 9 0 7 22 121 PHF8:single_exon:E7 0.137931 187 PHF8:exon_block:E4-E8 0.379310 762 PHF8:boundary_CDS_coverage:after_E2 1.000000 2974 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHGDH ENST00000641023.2 97 79 34 0 18 12 61 PHGDH:single_exon:E1 0.144330 227 PHGDH:exon_block:E7-E11 0.474227 804 PHGDH:boundary_CDS_coverage:after_E1 0.876289 1461 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHIP ENST00000275034.5 177 143 51 0 34 40 229 PHIP:single_exon:E15 0.062147 135 PHIP:exon_block:E5-E9 0.242938 734 PHIP:boundary_CDS_coverage:after_E1 0.983051 5423 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHKA1 ENST00000373542.9 49 34 21 0 15 32 181 PHKA1:single_exon:E7 0.102041 99 PHKA1:exon_block:E22-E26 0.265306 548 PHKA1:boundary_CDS_coverage:after_E2 1.000000 3432 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHKA2 ENST00000379942.5 117 91 43 0 26 33 187 PHKA2:single_exon:E4 0.085470 169 PHKA2:exon_block:E2-E6 0.264957 540 PHKA2:boundary_CDS_coverage:after_E1 0.974359 3627 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHKB ENST00000323584.10 123 78 65 0 45 31 175 PHKB:single_exon:E28 0.065041 130 PHKB:exon_block:E9-E13 0.235772 589 PHKB:boundary_CDS_coverage:after_E1 1.000000 3203 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHKG2 ENST00000563588.6 52 44 16 0 8 10 49 PHKG2:single_exon:E6 0.211538 164 PHKG2:exon_block:E5-E9 0.711538 601 PHKG2:boundary_CDS_coverage:after_E1 1.000000 1218 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHLDB1 ENST00000600882.6 2 2 1 0 0 23 127 PHLDB1:single_exon:E12 0.500000 90 PHLDB1:exon_block:E10-E12 1.000000 357 PHLDB1:boundary_CDS_coverage:after_E9 1.000000 1752 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHOX2A ENST00000298231.5 2 0 2 0 2 3 8 PHOX2A:single_exon:E1 0.500000 389 PHOX2A:exon_block:E1-E3 1.000000 1699 PHOX2A:boundary_CDS_coverage:after_E1 1.000000 635 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHOX2B ENST00000226382.4 82 76 12 2 4 3 8 PHOX2B:single_exon:E3 0.682927 2241 PHOX2B:exon_block:E1-E3 1.000000 2785 PHOX2B:boundary_CDS_coverage:after_E1 0.878049 701 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PHYH ENST00000263038.9 71 54 34 0 17 9 43 PHYH:single_exon:E7 0.253521 150 PHYH:exon_block:E3-E7 0.760563 694 PHYH:boundary_CDS_coverage:after_E1 0.929577 939 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PI4K2A ENST00000370631.4 2 2 1 0 0 9 43 PI4K2A:single_exon:E5 0.500000 62 PI4K2A:exon_block:E1-E5 1.000000 1056 PI4K2A:boundary_CDS_coverage:after_E4 0.500000 515 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PI4KA ENST00000255882.11 42 33 9 0 9 55 319 PI4KA:single_exon:E20 0.071429 109 PI4KA:exon_block:E20-E23 0.166667 463 PI4KA:boundary_CDS_coverage:after_E5 1.000000 5777 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PI4KB ENST00000368873.6 4 4 1 0 0 12 61 PI4KB:single_exon:E11 0.250000 121 PI4KB:exon_block:E10-E11 0.500000 254 PI4KB:boundary_CDS_coverage:after_E1 1.000000 2448 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIAS1 ENST00000249636.11 1 1 0 0 0 14 73 PIAS1:single_exon:E2 1.000000 445 PIAS1:exon_block:E1-E2 1.000000 481 PIAS1:boundary_CDS_coverage:after_E1 1.000000 1929 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIBF1 ENST00000326291.11 17 16 3 0 1 18 97 PIBF1:single_exon:E9 0.176471 126 PIBF1:exon_block:E11-E15 0.470588 642 PIBF1:boundary_CDS_coverage:after_E1 1.000000 2271 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PID1 ENST00000392055.8 1 1 0 0 0 3 8 PID1:single_exon:E3 1.000000 2136 PID1:exon_block:E2-E3 1.000000 2283 PID1:boundary_CDS_coverage:after_E2 1.000000 474 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIDD1 ENST00000347755.10 15 11 6 0 4 16 85 PIDD1:single_exon:E11 0.266667 151 PIDD1:exon_block:E10-E14 0.533333 644 PIDD1:boundary_CDS_coverage:after_E2 1.000000 2435 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIEZO1 ENST00000301015.14 120 106 24 0 14 51 295 PIEZO1:single_exon:E12 0.075000 261 PIEZO1:exon_block:E36-E40 0.158333 1026 PIEZO1:boundary_CDS_coverage:after_E1 1.000000 7499 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIEZO2 ENST00000674853.1 134 109 40 0 25 56 325 PIEZO2:single_exon:E56 0.082090 1533 PIEZO2:exon_block:E47-E51 0.134328 804 PIEZO2:boundary_CDS_coverage:after_E1 0.992537 8531 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGA ENST00000333590.6 49 45 7 0 4 6 25 PIGA:single_exon:E2 0.591837 777 PIGA:exon_block:E2-E6 0.979592 3567 PIGA:boundary_CDS_coverage:after_E1 1.000000 1452 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGB ENST00000164305.10 32 25 9 0 7 12 61 PIGB:single_exon:E7 0.156250 52 PIGB:exon_block:E6-E10 0.562500 684 PIGB:boundary_CDS_coverage:after_E1 0.906250 1499 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGC ENST00000344529.5 7 7 0 0 0 2 4 PIGC:single_exon:E2 1.000000 1374 PIGC:exon_block:E1-E2 1.000000 1456 PIGC:boundary_CDS_coverage:after_E1 1.000000 891 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGF ENST00000281382.11 1 0 0 0 1 6 25 PIGF:single_exon:E1 0.000000 72 PIGF:exon_block:E3-E4 0.000000 209 PIGF:boundary_CDS_coverage:after_E1 1.000000 657 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGG ENST00000453061.7 88 67 26 0 21 13 67 PIGG:single_exon:E9 0.193182 455 PIGG:exon_block:E5-E9 0.568182 1310 PIGG:boundary_CDS_coverage:after_E1 0.988636 2795 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGH ENST00000216452.9 2 2 0 0 0 4 13 PIGH:single_exon:E2 0.500000 210 PIGH:exon_block:E1-E2 1.000000 455 PIGH:boundary_CDS_coverage:after_E1 0.500000 384 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGK ENST00000370812.8 10 9 6 0 1 11 55 PIGK:single_exon:E2 0.200000 54 PIGK:exon_block:E1-E5 0.700000 515 PIGK:boundary_CDS_coverage:after_E1 0.900000 1092 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGL ENST00000225609.10 20 14 7 0 6 7 31 PIGL:single_exon:E1 0.250000 252 PIGL:exon_block:E1-E5 0.700000 543 PIGL:boundary_CDS_coverage:after_E1 0.750000 521 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGM ENST00000368090.5 2 2 0 0 0 1 1 PIGM:single_exon:E1 1.000000 7038 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGN ENST00000640252.2 179 111 83 0 68 31 175 PIGN:single_exon:E8 0.067039 125 PIGN:exon_block:E7-E11 0.240223 521 PIGN:boundary_CDS_coverage:after_E1 1.000000 2793 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGO ENST00000378617.4 81 74 14 0 7 11 55 PIGO:single_exon:E7 0.493827 1528 PIGO:exon_block:E5-E9 0.728395 2290 PIGO:boundary_CDS_coverage:after_E1 1.000000 3267 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGP ENST00000360525.9 2 2 0 0 0 5 19 PIGP:single_exon:E2 0.500000 104 PIGP:exon_block:E2-E5 1.000000 635 PIGP:boundary_CDS_coverage:after_E1 1.000000 402 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGQ ENST00000321878.10 45 40 12 0 5 11 55 PIGQ:single_exon:E2 0.488889 698 PIGQ:exon_block:E2-E6 0.866667 1232 PIGQ:boundary_CDS_coverage:after_E1 1.000000 1743 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGS ENST00000308360.8 13 12 3 0 1 12 61 PIGS:single_exon:E2 0.230769 140 PIGS:exon_block:E5-E9 0.538462 704 PIGS:boundary_CDS_coverage:after_E1 1.000000 1631 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGT ENST00000279036.12 27 25 5 0 2 12 61 PIGT:single_exon:E4 0.148148 101 PIGT:exon_block:E8-E12 0.481481 1285 PIGT:boundary_CDS_coverage:after_E1 0.925926 1547 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGU ENST00000217446.8 3 3 0 0 0 12 61 PIGU:single_exon:E3 0.333333 60 PIGU:exon_block:E11-E12 0.666667 581 PIGU:boundary_CDS_coverage:after_E2 1.000000 1110 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGV ENST00000674202.1 9 9 0 0 0 4 13 PIGV:single_exon:E3 0.777778 1122 PIGV:exon_block:E2-E4 1.000000 4354 PIGV:boundary_CDS_coverage:after_E1 1.000000 1479 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGW ENST00000614443.2 6 6 0 0 0 2 4 PIGW:single_exon:E2 1.000000 2210 PIGW:exon_block:E1-E2 1.000000 2816 PIGW:boundary_CDS_coverage:after_E1 1.000000 1512 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIGY ENST00000527353.2 3 1 0 1 0 2 4 PIGY:single_exon:E2 0.666667 1032 PIGY:exon_block:E1-E2 0.666667 1311 PIGY:boundary_CDS_coverage:after_E1 0.666667 213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIH1D2 ENST00000280350.10 2 0 0 0 0 6 25 PIH1D2:single_exon:E1 0.000000 38 PIH1D2:exon_block:E1-E2 0.000000 246 PIH1D2:boundary_CDS_coverage:after_E5 1.000000 132 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIK3C2A ENST00000691414.1 30 24 11 0 6 33 187 PIK3C2A:single_exon:E2 0.233333 1130 PIK3C2A:exon_block:E2-E6 0.266667 1625 PIK3C2A:boundary_CDS_coverage:after_E1 1.000000 5058 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIK3C2G ENST00000538779.6 14 0 1 0 1 33 187 PIK3C2G:single_exon:E3 0.071429 83 PIK3C2G:exon_block:E3-E4 0.071429 241 PIK3C2G:boundary_CDS_coverage:after_E3 1.000000 3697 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIK3CA ENST00000263967.4 111 110 9 0 1 21 115 PIK3CA:single_exon:E21 0.216216 6000 PIK3CA:exon_block:E2-E6 0.369369 1221 PIK3CA:boundary_CDS_coverage:after_E1 1.000000 3204 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIK3CB ENST00000674063.1 1 1 0 0 0 24 133 PIK3CB:single_exon:E23 1.000000 133 PIK3CB:exon_block:E22-E23 1.000000 279 PIK3CB:boundary_CDS_coverage:after_E22 1.000000 268 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIK3CD ENST00000377346.9 34 33 4 0 1 24 133 PIK3CD:single_exon:E13 0.235294 168 PIK3CD:exon_block:E4-E8 0.382353 879 PIK3CD:boundary_CDS_coverage:after_E1 1.000000 3132 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIK3CG ENST00000496166.6 4 4 0 0 0 11 55 PIK3CG:single_exon:E2 0.500000 2007 PIK3CG:exon_block:E2-E3 0.500000 2073 PIK3CG:boundary_CDS_coverage:after_E1 1.000000 3306 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIK3R1 ENST00000521381.6 77 57 27 0 20 16 85 PIK3R1:single_exon:E11 0.259740 126 PIK3R1:exon_block:E11-E15 0.740260 686 PIK3R1:boundary_CDS_coverage:after_E1 1.000000 2172 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIK3R2 ENST00000222254.13 16 14 3 0 2 16 85 PIK3R2:single_exon:E13 0.250000 177 PIK3R2:exon_block:E9-E13 0.625000 726 PIK3R2:boundary_CDS_coverage:after_E4 1.000000 1718 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIKFYVE ENST00000264380.9 24 20 8 0 4 42 241 PIKFYVE:single_exon:E20 0.333333 1160 PIKFYVE:exon_block:E18-E20 0.416667 1428 PIKFYVE:boundary_CDS_coverage:after_E3 1.000000 5972 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PINK1 ENST00000321556.5 49 42 11 0 7 8 37 PINK1:single_exon:E7 0.163265 237 PINK1:exon_block:E4-E8 0.571429 1790 PINK1:boundary_CDS_coverage:after_E1 0.836735 1356 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIP4K2B ENST00000619039.5 1 0 0 0 1 10 49 PIP4K2B:single_exon:E6 0.000000 39 PIP4K2B:exon_block:E6-E7 0.000000 153 PIP4K2B:boundary_CDS_coverage:after_E2 1.000000 991 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIP5K1A ENST00000368888.9 1 1 0 0 0 16 84 PIP5K1A:single_exon:E9 1.000000 206 PIP5K1A:exon_block:E9-E10 1.000000 290 PIP5K1A:boundary_CDS_coverage:after_E8 1.000000 747 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIP5K1B ENST00000265382.8 2 2 0 0 0 16 84 PIP5K1B:single_exon:E7 0.500000 153 PIP5K1B:exon_block:E7-E8 1.000000 453 PIP5K1B:boundary_CDS_coverage:after_E6 1.000000 1302 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIP5K1C ENST00000335312.8 7 6 2 0 1 18 96 PIP5K1C:single_exon:E7 0.857143 300 PIP5K1C:exon_block:E7-E8 1.000000 506 PIP5K1C:boundary_CDS_coverage:after_E6 1.000000 1383 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PISD ENST00000439502.7 11 5 5 0 6 8 37 PISD:single_exon:E5 0.272727 139 PISD:exon_block:E3-E7 0.727273 860 PISD:boundary_CDS_coverage:after_E2 0.909091 1082 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PITPNM3 ENST00000262483.13 3 3 1 0 0 20 109 PITPNM3:single_exon:E4 0.333333 48 PITPNM3:exon_block:E2-E4 0.666667 252 PITPNM3:boundary_CDS_coverage:after_E1 1.000000 2900 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PITRM1 ENST00000224949.9 4 4 1 0 0 27 151 PITRM1:single_exon:E6 0.250000 97 PITRM1:exon_block:E20-E21 0.500000 222 PITRM1:boundary_CDS_coverage:after_E5 1.000000 2578 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PITX1 ENST00000265340.12 9 8 2 0 1 3 8 PITX1:single_exon:E2 0.444444 233 PITX1:exon_block:E1-E3 1.000000 2337 PITX1:boundary_CDS_coverage:after_E1 0.888889 773 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PITX2 ENST00000644743.1 77 69 15 0 8 3 8 PITX2:single_exon:E3 0.506494 1266 PITX2:exon_block:E2-E3 0.987013 1472 PITX2:boundary_CDS_coverage:after_E1 1.000000 767 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PITX3 ENST00000370002.8 9 8 0 1 0 4 13 PITX3:single_exon:E4 0.888889 913 PITX3:exon_block:E2-E4 1.000000 1246 PITX3:boundary_CDS_coverage:after_E1 1.000000 906 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PIWIL1 ENST00000245255.7 1 1 0 0 0 21 115 PIWIL1:single_exon:E7 1.000000 81 PIWIL1:exon_block:E6-E7 1.000000 203 PIWIL1:boundary_CDS_coverage:after_E6 1.000000 1930 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PJVK ENST00000644580.2 46 41 11 0 5 7 31 PJVK:single_exon:E2 0.282609 233 PJVK:exon_block:E2-E6 0.739130 788 PJVK:boundary_CDS_coverage:after_E1 1.000000 1056 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKD1 ENST00000262304.9 2139 1894 373 0 243 46 265 PKD1:single_exon:E15 0.221599 3620 PKD1:exon_block:E11-E15 0.305750 4818 PKD1:boundary_CDS_coverage:after_E1 0.978495 12694 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKD1L1 ENST00000289672.7 60 48 20 0 12 57 331 PKD1L1:single_exon:E8 0.066667 168 PKD1L1:exon_block:E5-E9 0.233333 1004 PKD1L1:boundary_CDS_coverage:after_E1 1.000000 8503 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKD2 ENST00000237596.7 428 359 113 2 67 15 79 PKD2:single_exon:E1 0.172897 694 PKD2:exon_block:E1-E5 0.518692 1418 PKD2:boundary_CDS_coverage:after_E1 0.834112 2309 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKDCC ENST00000294964.6 20 17 4 0 3 7 31 PKDCC:single_exon:E1 0.550000 818 PKDCC:exon_block:E1-E5 1.000000 1401 PKDCC:boundary_CDS_coverage:after_E1 0.500000 840 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKHD1 ENST00000371117.8 1558 1278 404 0 280 67 391 PKHD1:single_exon:E32 0.126444 1608 PKHD1:exon_block:E32-E36 0.185494 2280 PKHD1:boundary_CDS_coverage:after_E1 1.000000 12222 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKHD1L1 ENST00000378402.10 7 7 1 0 0 78 457 PKHD1L1:single_exon:E4 0.142857 109 PKHD1L1:exon_block:E4-E5 0.142857 167 PKHD1L1:boundary_CDS_coverage:after_E3 1.000000 12421 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKIG ENST00000372886.6 1 0 0 0 0 4 13 PKIG:single_exon:E2 0.000000 70 PKIG:exon_block:E1-E2 0.000000 223 PKIG:boundary_CDS_coverage:after_E3 1.000000 77 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKLR ENST00000342741.6 113 93 25 0 18 11 55 PKLR:single_exon:E10 0.203540 182 PKLR:exon_block:E6-E10 0.681416 924 PKLR:boundary_CDS_coverage:after_E1 0.973451 1622 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKP1 ENST00000367324.8 9 5 6 0 4 14 72 PKP1:single_exon:E7 0.222222 115 PKP1:exon_block:E4-E7 0.666667 646 PKP1:boundary_CDS_coverage:after_E1 1.000000 1976 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PKP2 ENST00000340811.9 344 294 80 0 50 13 67 PKP2:single_exon:E3 0.247093 698 PKP2:exon_block:E2-E6 0.540698 1333 PKP2:boundary_CDS_coverage:after_E1 0.918605 2288 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLA1A ENST00000273371.9 1 1 0 0 0 11 55 PLA1A:single_exon:E11 1.000000 428 PLA1A:exon_block:E10-E11 1.000000 593 PLA1A:boundary_CDS_coverage:after_E10 1.000000 82 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLA2G2A ENST00000482011.3 1 1 0 0 0 5 19 PLA2G2A:single_exon:E3 1.000000 145 PLA2G2A:exon_block:E3-E4 1.000000 252 PLA2G2A:boundary_CDS_coverage:after_E2 1.000000 392 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLA2G4A ENST00000367466.4 5 5 1 0 0 18 97 PLA2G4A:single_exon:E5 0.200000 114 PLA2G4A:exon_block:E14-E17 0.600000 782 PLA2G4A:boundary_CDS_coverage:after_E4 1.000000 1983 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLA2G5 ENST00000375108.4 1 1 0 0 0 5 19 PLA2G5:single_exon:E4 1.000000 107 PLA2G5:exon_block:E3-E4 1.000000 252 PLA2G5:boundary_CDS_coverage:after_E3 1.000000 229 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLA2G6 ENST00000332509.8 172 139 46 0 33 17 91 PLA2G6:single_exon:E12 0.133721 151 PLA2G6:exon_block:E11-E15 0.476744 775 PLA2G6:boundary_CDS_coverage:after_E1 1.000000 2418 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLA2G7 ENST00000274793.12 3 0 3 0 3 12 61 PLA2G7:single_exon:E5 0.333333 94 PLA2G7:exon_block:E5-E8 0.666667 401 PLA2G7:boundary_CDS_coverage:after_E2 1.000000 1214 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLAA ENST00000397292.8 13 13 3 0 0 14 73 PLAA:single_exon:E6 0.307692 136 PLAA:exon_block:E6-E8 0.384615 464 PLAA:boundary_CDS_coverage:after_E1 0.769231 2236 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLAAT3 ENST00000415826.3 3 2 0 0 1 5 19 PLAAT3:single_exon:E4 0.666667 269 PLAAT3:exon_block:E3-E4 0.666667 372 PLAAT3:boundary_CDS_coverage:after_E3 1.000000 368 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLAG1 ENST00000316981.8 11 11 0 0 0 5 19 PLAG1:single_exon:E5 0.909091 6595 PLAG1:exon_block:E4-E5 1.000000 6954 PLAG1:boundary_CDS_coverage:after_E1 1.000000 1500 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCB1 ENST00000338037.11 26 16 13 0 10 32 181 PLCB1:single_exon:E20 0.115385 165 PLCB1:exon_block:E16-E20 0.307692 627 PLCB1:boundary_CDS_coverage:after_E2 1.000000 3471 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCB3 ENST00000279230.12 1 1 0 0 0 31 175 PLCB3:single_exon:E22 1.000000 92 PLCB3:exon_block:E21-E22 1.000000 197 PLCB3:boundary_CDS_coverage:after_E21 1.000000 1142 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCB4 ENST00000378473.9 26 23 6 0 3 40 229 PLCB4:single_exon:E24 0.346154 125 PLCB4:exon_block:E22-E24 0.423077 352 PLCB4:boundary_CDS_coverage:after_E1 1.000000 3618 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCD1 ENST00000334661.5 8 8 3 0 0 15 79 PLCD1:single_exon:E8 0.250000 150 PLCD1:exon_block:E8-E12 0.750000 765 PLCD1:boundary_CDS_coverage:after_E4 1.000000 1710 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCE1 ENST00000371380.8 63 57 8 0 6 33 186 PLCE1:single_exon:E8 0.095238 676 PLCE1:exon_block:E17-E21 0.206349 636 PLCE1:boundary_CDS_coverage:after_E1 1.000000 6906 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCG1 ENST00000685551.1 1 1 0 0 0 32 181 PLCG1:single_exon:E26 1.000000 225 PLCG1:exon_block:E25-E26 1.000000 322 PLCG1:boundary_CDS_coverage:after_E25 1.000000 968 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCG2 ENST00000564138.6 10 7 0 0 3 33 187 PLCG2:single_exon:E20 0.400000 181 PLCG2:exon_block:E20-E24 0.500000 527 PLCG2:boundary_CDS_coverage:after_E18 1.000000 1861 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCH1 ENST00000460012.7 2 2 0 0 0 23 127 PLCH1:single_exon:E17 0.500000 108 PLCH1:exon_block:E17-E18 0.500000 233 PLCH1:boundary_CDS_coverage:after_E16 1.000000 2981 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLCZ1 ENST00000266505.12 13 10 4 0 3 15 79 PLCZ1:single_exon:E6 0.153846 145 PLCZ1:exon_block:E6-E10 0.538462 605 PLCZ1:boundary_CDS_coverage:after_E3 1.000000 1689 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLD1 ENST00000351298.9 28 21 12 0 7 27 151 PLD1:single_exon:E18 0.107143 119 PLD1:exon_block:E11-E15 0.321429 692 PLD1:boundary_CDS_coverage:after_E4 1.000000 2788 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLD3 ENST00000409735.9 3 0 0 0 0 13 67 PLD3:single_exon:E1 0.000000 74 PLD3:exon_block:E3-E4 0.000000 167 PLD3:boundary_CDS_coverage:after_E12 1.000000 185 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLD6 ENST00000321560.4 1 1 0 0 0 2 4 PLD6:single_exon:E2 1.000000 2104 PLD6:exon_block:E1-E2 1.000000 2578 PLD6:boundary_CDS_coverage:after_E1 1.000000 329 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLEC ENST00000345136.8 154 138 24 0 12 32 181 PLEC:single_exon:E31 0.350649 3381 PLEC:exon_block:E29-E32 0.636364 10828 PLEC:boundary_CDS_coverage:after_E4 0.967532 13299 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLEKHA3 ENST00000234453.10 1 1 0 0 0 8 37 PLEKHA3:single_exon:E5 1.000000 165 PLEKHA3:exon_block:E5-E6 1.000000 209 PLEKHA3:boundary_CDS_coverage:after_E4 1.000000 450 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLEKHA5 ENST00000429027.7 2 2 1 0 0 32 180 PLEKHA5:single_exon:E3 0.500000 58 PLEKHA5:exon_block:E2-E3 0.500000 138 PLEKHA5:boundary_CDS_coverage:after_E2 1.000000 3677 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLEKHA7 ENST00000531066.6 4 3 1 0 1 27 151 PLEKHA7:single_exon:E11 0.500000 523 PLEKHA7:exon_block:E11-E13 0.750000 664 PLEKHA7:boundary_CDS_coverage:after_E10 1.000000 2470 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLEKHG2 ENST00000425673.6 2 1 1 0 0 19 103 PLEKHG2:single_exon:E12 0.500000 34 PLEKHG2:exon_block:E11-E12 0.500000 121 PLEKHG2:boundary_CDS_coverage:after_E11 1.000000 2895 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLEKHG3 ENST00000247226.13 1 0 0 1 0 17 91 PLEKHG3:single_exon:E17 1.000000 7268 PLEKHG3:exon_block:E16-E17 1.000000 8688 PLEKHG3:boundary_CDS_coverage:after_E16 1.000000 719 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLEKHG5 ENST00000377728.8 87 70 25 0 16 21 115 PLEKHG5:single_exon:E20 0.183908 762 PLEKHG5:exon_block:E16-E20 0.482759 1331 PLEKHG5:boundary_CDS_coverage:after_E1 0.988506 3018 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLEKHM1 ENST00000430334.8 4 3 2 0 1 12 61 PLEKHM1:single_exon:E3 0.500000 248 PLEKHM1:exon_block:E3-E7 0.750000 2449 PLEKHM1:boundary_CDS_coverage:after_E2 1.000000 3120 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLG ENST00000308192.14 28 22 12 0 6 19 103 PLG:single_exon:E7 0.142857 119 PLG:exon_block:E7-E11 0.428571 770 PLG:boundary_CDS_coverage:after_E1 1.000000 2381 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLIN1 ENST00000300055.10 7 6 3 0 1 9 43 PLIN1:single_exon:E9 0.428571 1576 PLIN1:exon_block:E8-E9 0.714286 1822 PLIN1:boundary_CDS_coverage:after_E2 1.000000 1521 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLIN4 ENST00000301286.5 1 0 1 0 1 8 37 PLIN4:single_exon:E4 1.000000 62 PLIN4:exon_block:E3-E4 1.000000 207 PLIN4:boundary_CDS_coverage:after_E4 1.000000 3855 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLK2 ENST00000274289.8 1 1 1 0 0 14 73 PLK2:single_exon:E7 1.000000 199 PLK2:exon_block:E6-E7 1.000000 295 PLK2:boundary_CDS_coverage:after_E6 1.000000 1246 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLK4 ENST00000270861.10 34 27 10 0 7 16 85 PLK4:single_exon:E5 0.441176 1021 PLK4:exon_block:E3-E7 0.676471 1704 PLK4:boundary_CDS_coverage:after_E1 1.000000 2880 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLN ENST00000357525.6 11 11 0 0 0 2 4 PLN:single_exon:E2 1.000000 2892 PLN:exon_block:E1-E2 1.000000 2989 PLN:boundary_CDS_coverage:after_E1 1.000000 156 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLOD1 ENST00000196061.5 110 78 52 0 32 19 103 PLOD1:single_exon:E17 0.100000 147 PLOD1:exon_block:E14-E18 0.354545 558 PLOD1:boundary_CDS_coverage:after_E1 0.981818 2105 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLOD2 ENST00000282903.10 38 31 12 0 7 20 109 PLOD2:single_exon:E18 0.131579 147 PLOD2:exon_block:E14-E18 0.315789 495 PLOD2:boundary_CDS_coverage:after_E2 0.921053 2073 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLOD3 ENST00000223127.8 36 24 21 0 12 19 103 PLOD3:single_exon:E9 0.166667 126 PLOD3:exon_block:E8-E12 0.361111 581 PLOD3:boundary_CDS_coverage:after_E1 0.944444 2105 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLP1 ENST00000621218.5 174 142 48 2 30 7 31 PLP1:single_exon:E3 0.275862 262 PLP1:exon_block:E2-E6 0.885057 758 PLP1:boundary_CDS_coverage:after_E1 0.959770 827 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLPBP ENST00000328195.8 23 18 10 0 5 8 37 PLPBP:single_exon:E4 0.217391 76 PLPBP:exon_block:E1-E5 0.869565 469 PLPBP:boundary_CDS_coverage:after_E1 0.826087 726 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLS1 ENST00000457734.7 3 2 1 0 1 16 85 PLS1:single_exon:E9 0.333333 93 PLS1:exon_block:E9-E10 0.666667 289 PLS1:boundary_CDS_coverage:after_E4 1.000000 1523 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLS3 ENST00000355899.8 46 36 18 0 10 16 85 PLS3:single_exon:E4 0.152174 130 PLS3:exon_block:E3-E7 0.478261 675 PLS3:boundary_CDS_coverage:after_E2 1.000000 1817 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLVAP ENST00000252590.9 8 8 0 0 0 6 25 PLVAP:single_exon:E3 0.750000 713 PLVAP:exon_block:E1-E3 1.000000 1233 PLVAP:boundary_CDS_coverage:after_E2 0.750000 860 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLXNA1 ENST00000393409.3 17 13 8 0 4 32 181 PLXNA1:single_exon:E27 0.117647 97 PLXNA1:exon_block:E12-E14 0.294118 467 PLXNA1:boundary_CDS_coverage:after_E1 1.000000 5688 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLXNA2 ENST00000367033.4 2 1 1 0 1 32 181 PLXNA2:single_exon:E10 0.500000 201 PLXNA2:exon_block:E10-E11 0.500000 298 PLXNA2:boundary_CDS_coverage:after_E9 1.000000 3585 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLXNB2 ENST00000359337.9 8 8 3 0 0 37 211 PLXNB2:single_exon:E35 0.125000 76 PLXNB2:exon_block:E13-E16 0.375000 498 PLXNB2:boundary_CDS_coverage:after_E1 1.000000 5514 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PLXND1 ENST00000324093.9 6 6 0 0 0 36 205 PLXND1:single_exon:E13 0.333333 152 PLXND1:exon_block:E13-E14 0.333333 252 PLXND1:boundary_CDS_coverage:after_E12 0.666667 3090 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMFBP1 ENST00000237353.15 10 9 2 0 1 21 115 PMFBP1:single_exon:E4 0.200000 249 PMFBP1:exon_block:E15-E19 0.400000 680 PMFBP1:boundary_CDS_coverage:after_E2 1.000000 3009 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMM1 ENST00000216259.8 1 1 0 0 0 8 37 PMM1:single_exon:E5 1.000000 100 PMM1:exon_block:E5-E6 1.000000 176 PMM1:boundary_CDS_coverage:after_E4 1.000000 412 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMM2 ENST00000268261.9 231 189 80 0 41 8 37 PMM2:single_exon:E5 0.160173 100 PMM2:exon_block:E4-E8 0.658009 1986 PMM2:boundary_CDS_coverage:after_E1 0.909091 672 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMP2 ENST00000256103.3 6 6 0 0 0 4 13 PMP2:single_exon:E2 1.000000 173 PMP2:exon_block:E2-E3 1.000000 275 PMP2:boundary_CDS_coverage:after_E1 1.000000 323 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMP22 ENST00000312280.9 91 77 29 0 14 5 19 PMP22:single_exon:E4 0.351648 141 PMP22:exon_block:E2-E5 0.989011 1655 PMP22:boundary_CDS_coverage:after_E1 1.000000 480 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMPCA ENST00000371717.8 12 11 4 0 1 13 67 PMPCA:single_exon:E11 0.166667 63 PMPCA:exon_block:E9-E13 0.583333 1085 PMPCA:boundary_CDS_coverage:after_E1 0.916667 1504 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMPCB ENST00000249269.9 9 8 1 0 1 13 67 PMPCB:single_exon:E5 0.555556 199 PMPCB:exon_block:E5-E9 0.777778 697 PMPCB:boundary_CDS_coverage:after_E4 0.888889 1010 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMS1 ENST00000441310.7 4 4 0 0 0 13 67 PMS1:single_exon:E3 0.500000 183 PMS1:exon_block:E3-E4 0.500000 286 PMS1:boundary_CDS_coverage:after_E2 1.000000 2664 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMS2 ENST00000265849.12 921 747 253 8 166 15 79 PMS2:single_exon:E11 0.279045 862 PMS2:exon_block:E7-E11 0.501629 1301 PMS2:boundary_CDS_coverage:after_E1 0.978284 2563 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PMVK ENST00000368467.4 6 5 1 0 1 5 19 PMVK:single_exon:E4 0.500000 130 PMVK:exon_block:E1-E5 1.000000 1002 PMVK:boundary_CDS_coverage:after_E1 0.833333 481 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNKD ENST00000273077.9 4 3 0 0 1 10 49 PNKD:single_exon:E1 0.500000 84 PNKD:exon_block:E1-E3 0.750000 369 PNKD:boundary_CDS_coverage:after_E2 0.500000 919 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNKP ENST00000322344.8 143 105 59 0 38 17 91 PNKP:single_exon:E14 0.237762 110 PNKP:exon_block:E12-E16 0.517483 419 PNKP:boundary_CDS_coverage:after_E1 1.000000 1563 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNLDC1 ENST00000392167.4 9 6 5 0 3 19 103 PNLDC1:single_exon:E3 0.222222 74 PNLDC1:exon_block:E5-E9 0.444444 535 PNLDC1:boundary_CDS_coverage:after_E2 1.000000 1459 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNLIP ENST00000369221.2 18 14 6 0 4 13 67 PNLIP:single_exon:E10 0.166667 130 PNLIP:exon_block:E6-E10 0.611111 601 PNLIP:boundary_CDS_coverage:after_E1 1.000000 1395 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNP ENST00000361505.10 38 33 9 0 5 6 25 PNP:single_exon:E5 0.236842 191 PNP:exon_block:E2-E6 0.947368 1347 PNP:boundary_CDS_coverage:after_E1 1.000000 856 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNPLA1 ENST00000636260.2 48 43 7 0 5 9 43 PNPLA1:single_exon:E1 0.270833 605 PNPLA1:exon_block:E1-E5 0.833333 1175 PNPLA1:boundary_CDS_coverage:after_E1 0.729167 1511 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNPLA2 ENST00000336615.9 40 33 10 0 7 10 49 PNPLA2:single_exon:E7 0.275000 162 PNPLA2:exon_block:E4-E8 0.675000 632 PNPLA2:boundary_CDS_coverage:after_E1 1.000000 1512 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNPLA6 ENST00000600737.6 122 98 34 0 24 32 181 PNPLA6:single_exon:E28 0.073770 302 PNPLA6:exon_block:E24-E28 0.270492 763 PNPLA6:boundary_CDS_coverage:after_E1 0.983607 3863 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNPLA8 ENST00000257694.13 30 28 4 0 2 11 55 PNPLA8:single_exon:E3 0.500000 1139 PNPLA8:exon_block:E3-E7 0.700000 1708 PNPLA8:boundary_CDS_coverage:after_E1 1.000000 2346 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNPO ENST00000642017.2 42 30 14 1 11 7 31 PNPO:single_exon:E5 0.214286 129 PNPO:exon_block:E3-E7 0.738095 3049 PNPO:boundary_CDS_coverage:after_E1 0.857143 645 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PNPT1 ENST00000447944.7 71 48 35 0 23 28 157 PNPT1:single_exon:E5 0.070423 50 PNPT1:exon_block:E22-E26 0.267606 410 PNPT1:boundary_CDS_coverage:after_E1 0.971831 2188 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POC1A ENST00000296484.7 27 21 9 0 6 11 55 POC1A:single_exon:E2 0.148148 85 POC1A:exon_block:E5-E9 0.555556 526 POC1A:boundary_CDS_coverage:after_E1 0.925926 1203 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POC1B ENST00000313546.8 44 32 16 0 12 12 61 POC1B:single_exon:E3 0.136364 172 POC1B:exon_block:E3-E7 0.500000 710 POC1B:boundary_CDS_coverage:after_E1 0.977273 1419 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POC5 ENST00000428202.7 1 1 0 0 0 12 61 POC5:single_exon:E10 1.000000 278 POC5:exon_block:E9-E10 1.000000 432 POC5:boundary_CDS_coverage:after_E9 1.000000 596 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PODXL ENST00000378555.8 6 5 2 0 1 9 43 PODXL:single_exon:E2 0.500000 606 PODXL:exon_block:E2-E6 0.833333 1149 PODXL:boundary_CDS_coverage:after_E1 0.833333 1574 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POFUT1 ENST00000375749.8 6 5 2 0 1 7 31 POFUT1:single_exon:E4 0.333333 113 POFUT1:exon_block:E2-E6 1.000000 854 POFUT1:boundary_CDS_coverage:after_E2 1.000000 918 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POGLUT1 ENST00000295588.9 23 19 9 0 4 11 55 POGLUT1:single_exon:E9 0.260870 168 POGLUT1:exon_block:E5-E9 0.652174 509 POGLUT1:boundary_CDS_coverage:after_E2 0.956522 1000 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POGZ ENST00000271715.7 198 178 32 0 20 19 103 POGZ:single_exon:E19 0.409091 3741 POGZ:exon_block:E15-E19 0.555556 4077 POGZ:boundary_CDS_coverage:after_E1 1.000000 4230 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLA1 ENST00000379068.8 11 8 5 0 3 37 211 POLA1:single_exon:E6 0.181818 63 POLA1:exon_block:E3-E6 0.363636 357 POLA1:boundary_CDS_coverage:after_E2 1.000000 4236 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLA2 ENST00000265465.8 2 1 1 0 0 18 97 POLA2:single_exon:E3 0.500000 92 POLA2:exon_block:E3-E4 0.500000 150 POLA2:boundary_CDS_coverage:after_E2 0.500000 1590 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLD1 ENST00000440232.7 8 8 1 0 0 27 151 POLD1:single_exon:E12 0.375000 111 POLD1:exon_block:E12-E15 0.625000 509 POLD1:boundary_CDS_coverage:after_E3 1.000000 3005 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLE ENST00000320574.10 487 370 167 0 116 49 283 POLE:single_exon:E15 0.036961 213 POLE:exon_block:E11-E15 0.151951 666 POLE:boundary_CDS_coverage:after_E1 0.991786 6796 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLG ENST00000268124.11 378 321 96 2 53 23 127 POLG:single_exon:E2 0.113757 818 POLG:exon_block:E18-E22 0.359788 909 POLG:boundary_CDS_coverage:after_E1 1.000000 3717 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLG2 ENST00000539111.7 33 25 8 0 8 8 37 POLG2:single_exon:E1 0.363636 648 POLG2:exon_block:E1-E5 0.878788 1196 POLG2:boundary_CDS_coverage:after_E1 0.666667 893 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLGARF ENST00000706918.1 61 48 5 0 3 2 4 POLGARF:single_exon:E1 0.704918 714 POLGARF:exon_block:E1-E2 0.836066 783 POLGARF:boundary_CDS_coverage:after_E1 0.327869 66 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLH ENST00000372236.9 55 47 17 0 8 11 55 POLH:single_exon:E2 0.127273 141 POLH:exon_block:E2-E6 0.563636 768 POLH:boundary_CDS_coverage:after_E1 1.000000 2139 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLK ENST00000241436.9 21 18 1 1 0 15 79 POLK:single_exon:E13 0.285714 957 POLK:exon_block:E11-E15 0.714286 13327 POLK:boundary_CDS_coverage:after_E4 0.904762 2202 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR1A ENST00000263857.11 10 10 1 0 0 34 193 POLR1A:single_exon:E16 0.300000 184 POLR1A:exon_block:E15-E18 0.500000 576 POLR1A:boundary_CDS_coverage:after_E1 1.000000 5083 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR1B ENST00000263331.10 5 5 1 0 0 15 79 POLR1B:single_exon:E12 0.400000 157 POLR1B:exon_block:E12-E15 0.800000 5580 POLR1B:boundary_CDS_coverage:after_E2 1.000000 3060 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR1C ENST00000642195.1 55 46 11 0 5 9 43 POLR1C:single_exon:E5 0.145455 120 POLR1C:exon_block:E3-E7 0.618182 664 POLR1C:boundary_CDS_coverage:after_E1 0.981818 969 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR1D ENST00000302979.5 19 18 1 0 1 2 4 POLR1D:single_exon:E2 1.000000 575 POLR1D:exon_block:E1-E2 1.000000 693 POLR1D:boundary_CDS_coverage:after_E1 1.000000 373 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR2B ENST00000314595.6 1 1 0 0 0 25 139 POLR2B:single_exon:E15 1.000000 199 POLR2B:exon_block:E14-E15 1.000000 354 POLR2B:boundary_CDS_coverage:after_E14 1.000000 1567 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR2C ENST00000219252.10 2 2 1 0 0 9 43 POLR2C:single_exon:E1 0.500000 132 POLR2C:exon_block:E1-E2 0.500000 182 POLR2C:boundary_CDS_coverage:after_E6 0.500000 386 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR2E ENST00000615234.5 1 0 1 0 1 8 36 POLR2E:single_exon:E3 1.000000 116 POLR2E:exon_block:E3-E4 1.000000 197 POLR2E:boundary_CDS_coverage:after_E2 1.000000 398 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR2F ENST00000442738.7 229 0 0 0 0 5 19 POLR2F:single_exon:E2 0.000000 70 POLR2F:exon_block:E1-E2 0.000000 179 POLR2F:boundary_CDS_coverage:after_E4 1.000000 88 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR3A ENST00000372371.8 132 95 43 0 37 31 175 POLR3A:single_exon:E20 0.083333 171 POLR3A:exon_block:E16-E20 0.265152 713 POLR3A:boundary_CDS_coverage:after_E1 0.992424 4126 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR3B ENST00000228347.9 71 52 25 0 19 28 157 POLR3B:single_exon:E14 0.140845 201 POLR3B:exon_block:E12-E16 0.422535 815 POLR3B:boundary_CDS_coverage:after_E1 1.000000 3327 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR3F ENST00000377603.5 1 1 0 0 0 9 43 POLR3F:single_exon:E4 1.000000 68 POLR3F:exon_block:E3-E4 1.000000 136 POLR3F:boundary_CDS_coverage:after_E3 1.000000 700 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR3GL ENST00000369314.2 3 1 2 0 2 8 37 POLR3GL:single_exon:E5 0.666667 57 POLR3GL:exon_block:E2-E5 1.000000 423 POLR3GL:boundary_CDS_coverage:after_E1 1.000000 654 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR3H ENST00000355209.9 20 0 0 20 0 6 25 POLR3H:single_exon:E6 1.000000 3538 POLR3H:exon_block:E5-E6 1.000000 3740 POLR3H:boundary_CDS_coverage:after_E5 1.000000 51 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLR3K ENST00000293860.6 2 2 1 0 0 3 8 POLR3K:single_exon:E2 0.500000 88 POLR3K:exon_block:E2-E3 1.000000 1239 POLR3K:boundary_CDS_coverage:after_E1 1.000000 213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POLRMT ENST00000588649.7 17 15 2 0 2 21 115 POLRMT:single_exon:E10 0.411765 789 POLRMT:exon_block:E9-E13 0.764706 1440 POLRMT:boundary_CDS_coverage:after_E2 1.000000 3497 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POMC ENST00000395826.7 19 15 4 1 3 3 8 POMC:single_exon:E3 0.578947 893 POMC:exon_block:E1-E3 1.000000 1128 POMC:boundary_CDS_coverage:after_E1 1.000000 801 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POMGNT1 ENST00000371984.8 256 193 94 0 63 22 121 POMGNT1:single_exon:E21 0.089844 110 POMGNT1:exon_block:E17-E21 0.332031 482 POMGNT1:boundary_CDS_coverage:after_E1 1.000000 1980 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POMGNT2 ENST00000344697.3 29 29 0 0 0 2 4 POMGNT2:single_exon:E2 1.000000 2303 POMGNT2:exon_block:E1-E2 1.000000 2547 POMGNT2:boundary_CDS_coverage:after_E1 1.000000 1740 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POMK ENST00000331373.10 26 25 3 0 1 5 19 POMK:single_exon:E5 0.538462 1328 POMK:exon_block:E4-E5 1.000000 1631 POMK:boundary_CDS_coverage:after_E1 1.000000 1050 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POMP ENST00000380842.5 5 4 0 0 0 6 25 POMP:single_exon:E5 0.800000 94 POMP:exon_block:E4-E5 0.800000 196 POMP:boundary_CDS_coverage:after_E4 0.800000 159 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POMT1 ENST00000402686.8 197 158 66 0 39 20 109 POMT1:single_exon:E20 0.096447 868 POMT1:exon_block:E11-E15 0.294416 500 POMT1:boundary_CDS_coverage:after_E1 1.000000 2175 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POMT2 ENST00000261534.9 153 112 63 0 41 21 115 POMT2:single_exon:E1 0.117647 450 POMT2:exon_block:E15-E19 0.281046 456 POMT2:boundary_CDS_coverage:after_E1 0.915033 2002 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POP1 ENST00000401707.7 30 25 8 0 5 16 85 POP1:single_exon:E4 0.166667 176 POP1:exon_block:E4-E8 0.466667 958 POP1:boundary_CDS_coverage:after_E1 1.000000 3072 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POPDC1 ENST00000314641.10 6 5 1 0 1 8 37 POPDC1:single_exon:E4 0.500000 188 POPDC1:exon_block:E3-E5 1.000000 422 POPDC1:boundary_CDS_coverage:after_E2 1.000000 854 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POPDC3 ENST00000254765.4 6 4 2 0 2 4 13 POPDC3:single_exon:E3 0.333333 109 POPDC3:exon_block:E2-E4 1.000000 1697 POPDC3:boundary_CDS_coverage:after_E1 1.000000 873 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POR ENST00000461988.6 102 85 27 0 17 16 85 POR:single_exon:E13 0.205882 271 POR:exon_block:E11-E15 0.588235 832 POR:boundary_CDS_coverage:after_E1 1.000000 2031 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PORCN ENST00000326194.11 63 48 24 1 14 15 79 PORCN:single_exon:E12 0.142857 64 PORCN:exon_block:E2-E6 0.444444 723 PORCN:boundary_CDS_coverage:after_E1 1.000000 1383 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POT1 ENST00000357628.8 207 158 79 0 49 19 103 POT1:single_exon:E7 0.135266 131 POT1:exon_block:E6-E10 0.449275 860 POT1:boundary_CDS_coverage:after_E1 1.000000 1902 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POU1F1 ENST00000350375.7 42 30 9 0 11 6 25 POU1F1:single_exon:E4 0.214286 165 POU1F1:exon_block:E2-E6 0.714286 1224 POU1F1:boundary_CDS_coverage:after_E1 0.880952 731 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POU3F2 ENST00000328345.8 1 1 0 0 0 1 1 POU3F2:single_exon:E1 1.000000 4885 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POU3F3 ENST00000361360.4 52 52 0 0 0 1 1 POU3F3:single_exon:E1 1.000000 4460 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POU3F4 ENST00000644024.2 107 106 0 1 0 1 1 POU3F4:single_exon:E1 1.000000 3838 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POU4F1 ENST00000377208.7 8 7 3 0 1 2 4 POU4F1:single_exon:E2 0.625000 4190 POU4F1:exon_block:E1-E2 1.000000 4539 POU4F1:boundary_CDS_coverage:after_E1 0.625000 1134 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POU4F3 ENST00000646991.2 52 52 2 0 0 2 4 POU4F3:single_exon:E2 0.903846 2181 POU4F3:exon_block:E1-E2 1.000000 2575 POU4F3:boundary_CDS_coverage:after_E1 0.903846 894 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true POU6F2 ENST00000518318.7 2 2 0 0 0 10 49 POU6F2:single_exon:E1 0.500000 150 POU6F2:exon_block:E1-E5 1.000000 1017 POU6F2:boundary_CDS_coverage:after_E4 0.500000 1562 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPA2 ENST00000341695.10 18 17 4 0 1 12 61 PPA2:single_exon:E6 0.333333 87 PPA2:exon_block:E4-E8 0.888889 516 PPA2:boundary_CDS_coverage:after_E1 1.000000 845 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPARG ENST00000651735.1 41 36 8 0 5 8 37 PPARG:single_exon:E7 0.243902 451 PPARG:exon_block:E4-E8 0.951220 1407 PPARG:boundary_CDS_coverage:after_E1 1.000000 1425 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPCS ENST00000372561.4 4 3 0 0 0 3 8 PPCS:single_exon:E3 0.500000 1634 PPCS:exon_block:E2-E3 0.750000 1738 PPCS:boundary_CDS_coverage:after_E1 1.000000 425 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPFIA3 ENST00000334186.9 19 17 6 0 2 30 168 PPFIA3:single_exon:E21 0.157895 201 PPFIA3:exon_block:E18-E21 0.315789 505 PPFIA3:boundary_CDS_coverage:after_E1 1.000000 3582 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPFIBP1 ENST00000228425.11 12 9 4 0 3 30 169 PPFIBP1:single_exon:E6 0.166667 114 PPFIBP1:exon_block:E15-E18 0.333333 320 PPFIBP1:boundary_CDS_coverage:after_E3 1.000000 2951 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPIB ENST00000300026.4 21 17 5 0 4 5 19 PPIB:single_exon:E4 0.380952 185 PPIB:exon_block:E1-E5 1.000000 893 PPIB:boundary_CDS_coverage:after_E1 0.809524 513 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPIL1 ENST00000373699.6 10 9 1 0 1 4 13 PPIL1:single_exon:E4 0.500000 1205 PPIL1:exon_block:E1-E4 1.000000 1516 PPIL1:boundary_CDS_coverage:after_E1 0.900000 442 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPM1D ENST00000305921.8 68 68 12 0 0 6 25 PPM1D:single_exon:E6 0.617647 3286 PPM1D:exon_block:E5-E6 0.985294 3529 PPM1D:boundary_CDS_coverage:after_E4 0.985294 798 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPM1E ENST00000308249.4 1 0 0 1 0 7 31 PPM1E:single_exon:E7 1.000000 5206 PPM1E:exon_block:E6-E7 1.000000 5300 PPM1E:boundary_CDS_coverage:after_E6 1.000000 1055 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPM1K ENST00000608933.6 2 2 0 0 0 7 31 PPM1K:single_exon:E4 0.500000 166 PPM1K:exon_block:E2-E4 1.000000 766 PPM1K:boundary_CDS_coverage:after_E1 1.000000 1116 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPOX ENST00000367999.9 66 53 24 1 12 13 67 PPOX:single_exon:E5 0.121212 133 PPOX:exon_block:E3-E7 0.454545 720 PPOX:boundary_CDS_coverage:after_E1 1.000000 1431 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP1CB ENST00000395366.3 14 14 3 0 0 8 37 PPP1CB:single_exon:E5 0.285714 72 PPP1CB:exon_block:E3-E7 0.857143 695 PPP1CB:boundary_CDS_coverage:after_E1 1.000000 929 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP1R12A ENST00000450142.7 34 29 9 0 5 25 139 PPP1R12A:single_exon:E21 0.147059 136 PPP1R12A:exon_block:E18-E22 0.294118 446 PPP1R12A:boundary_CDS_coverage:after_E1 0.911765 2853 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP1R13L ENST00000360957.10 12 11 1 1 0 13 67 PPP1R13L:single_exon:E8 0.333333 461 PPP1R13L:exon_block:E4-E8 0.750000 1617 PPP1R13L:boundary_CDS_coverage:after_E3 1.000000 2286 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP1R21 ENST00000294952.13 21 18 6 0 3 22 121 PPP1R21:single_exon:E20 0.142857 99 PPP1R21:exon_block:E2-E6 0.476190 542 PPP1R21:boundary_CDS_coverage:after_E1 1.000000 2283 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP1R35 ENST00000292330.3 1 0 0 1 0 4 13 PPP1R35:single_exon:E4 1.000000 252 PPP1R35:exon_block:E3-E4 1.000000 389 PPP1R35:boundary_CDS_coverage:after_E3 1.000000 171 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP1R3F ENST00000055335.11 2 2 0 0 0 4 13 PPP1R3F:single_exon:E1 0.500000 1081 PPP1R3F:exon_block:E1-E4 1.000000 3477 PPP1R3F:boundary_CDS_coverage:after_E3 0.500000 1254 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP2CA ENST00000481195.6 41 37 8 0 4 7 31 PPP2CA:single_exon:E3 0.292683 174 PPP2CA:exon_block:E2-E6 0.829268 755 PPP2CA:boundary_CDS_coverage:after_E1 0.878049 825 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP2R1A ENST00000322088.11 20 20 2 0 0 15 79 PPP2R1A:single_exon:E5 0.650000 148 PPP2R1A:exon_block:E4-E7 0.900000 652 PPP2R1A:boundary_CDS_coverage:after_E1 1.000000 1689 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP2R1B ENST00000527614.6 1 1 0 0 0 15 79 PPP2R1B:single_exon:E3 1.000000 101 PPP2R1B:exon_block:E2-E3 1.000000 192 PPP2R1B:boundary_CDS_coverage:after_E2 1.000000 1598 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP2R3C ENST00000261475.10 7 6 1 0 0 13 67 PPP2R3C:single_exon:E7 0.428571 133 PPP2R3C:exon_block:E4-E7 0.571429 415 PPP2R3C:boundary_CDS_coverage:after_E3 1.000000 1068 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP2R5C ENST00000694906.1 5 5 2 0 0 16 85 PPP2R5C:single_exon:E5 0.600000 111 PPP2R5C:exon_block:E4-E7 1.000000 535 PPP2R5C:boundary_CDS_coverage:after_E3 1.000000 1478 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP2R5D ENST00000485511.6 28 28 2 0 0 16 85 PPP2R5D:single_exon:E5 0.642857 111 PPP2R5D:exon_block:E3-E7 0.964286 752 PPP2R5D:boundary_CDS_coverage:after_E2 1.000000 1701 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP3CA ENST00000394854.8 49 44 14 0 5 14 73 PPP3CA:single_exon:E12 0.326531 98 PPP3CA:exon_block:E11-E14 0.612245 2857 PPP3CA:boundary_CDS_coverage:after_E2 0.979592 1304 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPP6R2 ENST00000612753.5 1 0 0 0 1 24 133 PPP6R2:single_exon:E17 0.000000 58 PPP6R2:exon_block:E16-E17 0.000000 156 PPP6R2:boundary_CDS_coverage:after_E3 1.000000 2650 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPT1 ENST00000642050.2 174 136 67 1 37 9 43 PPT1:single_exon:E3 0.183908 128 PPT1:exon_block:E1-E5 0.591954 550 PPT1:boundary_CDS_coverage:after_E1 0.862069 794 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PPTC7 ENST00000354300.5 2 1 0 1 0 6 25 PPTC7:single_exon:E3 0.500000 199 PPTC7:exon_block:E3-E6 1.000000 4304 PPTC7:boundary_CDS_coverage:after_E2 1.000000 509 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PQBP1 ENST00000447146.7 35 33 9 0 2 7 31 PQBP1:single_exon:E5 0.371429 285 PQBP1:exon_block:E3-E7 0.942857 790 PQBP1:boundary_CDS_coverage:after_E1 1.000000 795 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRB3 ENST00000538488.3 2 2 0 0 0 4 12 PRB3:single_exon:E3 1.000000 973 PRB3:exon_block:E2-E3 1.000000 1009 PRB3:boundary_CDS_coverage:after_E2 1.000000 953 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRCD ENST00000592014.6 13 9 7 0 4 5 17 PRCD:single_exon:E1 0.692308 172 PRCD:exon_block:E1-E2 1.000000 241 PRCD:boundary_CDS_coverage:after_E1 0.461538 88 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM12 ENST00000253008.3 16 13 3 0 3 5 19 PRDM12:single_exon:E5 0.312500 1736 PRDM12:exon_block:E1-E5 0.937500 2478 PRDM12:boundary_CDS_coverage:after_E1 0.875000 878 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM13 ENST00000369215.5 7 3 1 0 1 4 13 PRDM13:single_exon:E4 0.571429 2530 PRDM13:exon_block:E3-E4 0.571429 2651 PRDM13:boundary_CDS_coverage:after_E3 0.571429 1724 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM15 ENST00000398548.6 1 1 0 0 0 24 133 PRDM15:single_exon:E20 1.000000 84 PRDM15:exon_block:E19-E20 1.000000 216 PRDM15:boundary_CDS_coverage:after_E19 1.000000 1031 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM16 ENST00000270722.10 16 13 3 0 3 17 91 PRDM16:single_exon:E9 0.500000 1417 PRDM16:exon_block:E7-E11 0.687500 1977 PRDM16:boundary_CDS_coverage:after_E3 1.000000 3390 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM2 ENST00000311066.10 1 1 0 0 0 10 48 PRDM2:single_exon:E8 1.000000 4414 PRDM2:exon_block:E7-E8 1.000000 4525 PRDM2:boundary_CDS_coverage:after_E7 1.000000 4532 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM5 ENST00000264808.8 56 42 19 0 14 16 85 PRDM5:single_exon:E10 0.107143 158 PRDM5:exon_block:E7-E11 0.392857 539 PRDM5:boundary_CDS_coverage:after_E1 0.946429 1797 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM6 ENST00000407847.5 3 3 0 0 0 8 37 PRDM6:single_exon:E7 0.333333 177 PRDM6:exon_block:E3-E7 1.000000 1081 PRDM6:boundary_CDS_coverage:after_E2 1.000000 1193 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM8 ENST00000415738.3 1 1 0 0 0 4 13 PRDM8:single_exon:E4 1.000000 2416 PRDM8:exon_block:E3-E4 1.000000 2648 PRDM8:boundary_CDS_coverage:after_E3 1.000000 1616 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDM9 ENST00000296682.4 3 3 0 0 0 11 55 PRDM9:single_exon:E8 0.666667 272 PRDM9:exon_block:E4-E8 1.000000 689 PRDM9:boundary_CDS_coverage:after_E3 1.000000 2489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDX1 ENST00000319248.13 2 0 2 0 2 6 25 PRDX1:single_exon:E6 1.000000 364 PRDX1:exon_block:E5-E6 1.000000 495 PRDX1:boundary_CDS_coverage:after_E5 1.000000 83 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRDX3 ENST00000298510.4 10 8 3 0 2 7 31 PRDX3:single_exon:E6 0.500000 166 PRDX3:exon_block:E2-E6 1.000000 681 PRDX3:boundary_CDS_coverage:after_E1 1.000000 732 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PREP ENST00000652536.2 2 1 1 0 1 15 79 PREP:single_exon:E13 0.500000 132 PREP:exon_block:E13-E15 1.000000 5510 PREP:boundary_CDS_coverage:after_E12 1.000000 581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PREPL ENST00000409411.6 82 36 20 26 19 14 73 PREPL:single_exon:E14 0.292683 3839 PREPL:exon_block:E10-E14 0.487805 4404 PREPL:boundary_CDS_coverage:after_E1 1.000000 1914 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PREX2 ENST00000288368.5 1 1 0 0 0 40 229 PREX2:single_exon:E27 1.000000 95 PREX2:exon_block:E27-E28 1.000000 178 PREX2:boundary_CDS_coverage:after_E26 1.000000 1492 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRF1 ENST00000441259.2 145 143 3 0 2 3 8 PRF1:single_exon:E3 0.641379 1834 PRF1:exon_block:E2-E3 1.000000 2403 PRF1:boundary_CDS_coverage:after_E1 1.000000 1665 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRG4 ENST00000445192.7 43 42 2 0 1 13 67 PRG4:single_exon:E7 0.511628 2823 PRG4:exon_block:E7-E11 0.767442 3393 PRG4:boundary_CDS_coverage:after_E1 1.000000 4212 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRICKLE1 ENST00000345127.9 2 2 0 0 0 8 37 PRICKLE1:single_exon:E4 0.500000 138 PRICKLE1:exon_block:E4-E7 1.000000 1393 PRICKLE1:boundary_CDS_coverage:after_E3 1.000000 2247 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRICKLE2 ENST00000638394.2 5 5 0 0 0 8 37 PRICKLE2:single_exon:E3 0.200000 114 PRICKLE2:exon_block:E2-E6 0.800000 827 PRICKLE2:boundary_CDS_coverage:after_E1 1.000000 2532 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRIM1 ENST00000338193.11 4 1 2 0 3 13 67 PRIM1:single_exon:E1 0.500000 128 PRIM1:exon_block:E1-E2 0.500000 286 PRIM1:boundary_CDS_coverage:after_E1 1.000000 1157 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRIMA1 ENST00000393140.6 2 2 0 0 0 5 19 PRIMA1:single_exon:E2 0.500000 124 PRIMA1:exon_block:E2-E4 1.000000 390 PRIMA1:boundary_CDS_coverage:after_E1 1.000000 459 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKACA ENST00000308677.9 3 3 1 0 0 10 49 PRKACA:single_exon:E7 0.666667 96 PRKACA:exon_block:E5-E7 1.000000 306 PRKACA:boundary_CDS_coverage:after_E4 1.000000 717 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKACB ENST00000370685.7 6 6 0 0 0 10 49 PRKACB:single_exon:E4 0.500000 99 PRKACB:exon_block:E3-E4 0.666667 228 PRKACB:boundary_CDS_coverage:after_E2 1.000000 945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKAG2 ENST00000287878.9 27 26 9 0 1 16 85 PRKAG2:single_exon:E15 0.222222 94 PRKAG2:exon_block:E7-E11 0.592593 369 PRKAG2:boundary_CDS_coverage:after_E3 1.000000 1241 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKAR1A ENST00000589228.6 143 85 42 2 25 11 55 PRKAR1A:single_exon:E7 0.125874 159 PRKAR1A:exon_block:E3-E7 0.405594 531 PRKAR1A:boundary_CDS_coverage:after_E1 0.979021 1143 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKAR1B ENST00000537384.6 20 6 2 1 12 11 55 PRKAR1B:single_exon:E10 0.150000 82 PRKAR1B:exon_block:E7-E11 0.250000 1829 PRKAR1B:boundary_CDS_coverage:after_E1 0.900000 1143 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKCB ENST00000643927.1 1 1 0 0 0 17 91 PRKCB:single_exon:E3 1.000000 83 PRKCB:exon_block:E2-E3 1.000000 115 PRKCB:boundary_CDS_coverage:after_E2 1.000000 1814 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKCD ENST00000330452.8 18 11 8 0 7 19 103 PRKCD:single_exon:E14 0.222222 92 PRKCD:exon_block:E12-E16 0.500000 569 PRKCD:boundary_CDS_coverage:after_E3 1.000000 1913 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKCE ENST00000306156.8 2 2 0 0 0 15 79 PRKCE:single_exon:E8 0.500000 97 PRKCE:exon_block:E7-E8 0.500000 240 PRKCE:boundary_CDS_coverage:after_E7 1.000000 1245 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKCG ENST00000263431.4 50 50 9 0 0 18 97 PRKCG:single_exon:E4 0.440000 112 PRKCG:exon_block:E1-E5 0.800000 827 PRKCG:boundary_CDS_coverage:after_E1 0.920000 1921 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKCSH ENST00000677123.1 44 32 23 0 12 18 96 PRKCSH:single_exon:E6 0.136364 118 PRKCSH:exon_block:E13-E17 0.386364 498 PRKCSH:boundary_CDS_coverage:after_E1 1.000000 1605 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKD1 ENST00000331968.11 10 7 5 0 3 18 97 PRKD1:single_exon:E13 0.300000 107 PRKD1:exon_block:E12-E14 0.700000 342 PRKD1:boundary_CDS_coverage:after_E1 1.000000 2472 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKDC ENST00000314191.7 3 3 0 0 0 86 505 PRKDC:single_exon:E75 0.333333 88 PRKDC:exon_block:E75-E76 0.333333 232 PRKDC:boundary_CDS_coverage:after_E41 1.000000 6813 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKG1 ENST00000373980.11 1 1 0 0 0 18 97 PRKG1:single_exon:E3 1.000000 114 PRKG1:exon_block:E3-E4 1.000000 220 PRKG1:boundary_CDS_coverage:after_E2 1.000000 1580 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKG2 ENST00000264399.6 9 8 4 0 1 19 103 PRKG2:single_exon:E15 0.222222 164 PRKG2:exon_block:E12-E15 0.555556 533 PRKG2:boundary_CDS_coverage:after_E2 1.000000 1825 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKN ENST00000366898.6 56 47 18 0 9 12 61 PRKN:single_exon:E2 0.196429 164 PRKN:exon_block:E5-E9 0.428571 549 PRKN:boundary_CDS_coverage:after_E1 0.964286 1388 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRKRA ENST00000325748.9 5 5 2 0 0 8 37 PRKRA:single_exon:E7 0.600000 175 PRKRA:exon_block:E3-E7 0.800000 549 PRKRA:boundary_CDS_coverage:after_E1 1.000000 874 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRLR ENST00000618457.5 4 4 1 0 0 10 49 PRLR:single_exon:E9 0.500000 70 PRLR:exon_block:E6-E9 1.000000 482 PRLR:boundary_CDS_coverage:after_E5 1.000000 1493 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRMT7 ENST00000441236.3 44 36 14 0 8 19 103 PRMT7:single_exon:E11 0.159091 136 PRMT7:exon_block:E10-E14 0.409091 486 PRMT7:boundary_CDS_coverage:after_E1 1.000000 2076 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRMT9 ENST00000322396.7 18 17 5 0 1 12 61 PRMT9:single_exon:E2 0.222222 149 PRMT9:exon_block:E1-E5 0.666667 1022 PRMT9:boundary_CDS_coverage:after_E1 0.944444 2346 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRNP ENST00000379440.9 26 26 0 0 0 2 4 PRNP:single_exon:E2 1.000000 2378 PRNP:exon_block:E1-E2 1.000000 2435 PRNP:boundary_CDS_coverage:after_E1 1.000000 759 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PROC ENST00000234071.8 111 98 21 0 11 9 43 PROC:single_exon:E9 0.369369 886 PROC:exon_block:E5-E9 0.837838 1420 PROC:boundary_CDS_coverage:after_E1 0.981982 1383 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRODH ENST00000357068.11 19 16 7 0 3 14 73 PRODH:single_exon:E1 0.315789 279 PRODH:exon_block:E1-E4 0.578947 673 PRODH:boundary_CDS_coverage:after_E1 0.684211 1527 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PROK2 ENST00000295619.4 10 8 3 0 2 4 13 PROK2:single_exon:E2 0.400000 126 PROK2:exon_block:E1-E4 1.000000 1555 PROK2:boundary_CDS_coverage:after_E1 0.800000 291 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PROKR2 ENST00000678254.1 13 12 1 0 1 3 8 PROKR2:single_exon:E2 0.538462 466 PROKR2:exon_block:E2-E3 1.000000 3985 PROKR2:boundary_CDS_coverage:after_E1 1.000000 1152 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PROM1 ENST00000447510.7 155 113 64 0 42 28 156 PROM1:single_exon:E16 0.070968 85 PROM1:exon_block:E12-E16 0.303226 626 PROM1:boundary_CDS_coverage:after_E1 1.000000 2595 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PROP1 ENST00000308304.2 95 87 17 0 8 3 8 PROP1:single_exon:E3 0.515789 813 PROP1:exon_block:E1-E3 0.989474 1464 PROP1:boundary_CDS_coverage:after_E1 0.894737 569 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRORP ENST00000534898.9 6 6 1 0 0 8 37 PRORP:single_exon:E7 0.333333 196 PRORP:exon_block:E4-E7 0.833333 586 PRORP:boundary_CDS_coverage:after_E1 1.000000 1749 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PROS1 ENST00000394236.9 140 103 47 2 34 15 79 PROS1:single_exon:E8 0.121429 122 PROS1:exon_block:E8-E12 0.400000 765 PROS1:boundary_CDS_coverage:after_E1 0.942857 1952 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPF18 ENST00000378572.8 1 0 0 0 0 10 49 PRPF18:single_exon:E6 0.000000 69 PRPF18:exon_block:E2-E3 0.000000 183 PRPF18:boundary_CDS_coverage:after_E9 1.000000 78 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPF19 ENST00000227524.9 1 1 1 0 0 16 85 PRPF19:single_exon:E6 1.000000 63 PRPF19:exon_block:E6-E7 1.000000 105 PRPF19:boundary_CDS_coverage:after_E5 1.000000 1050 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPF3 ENST00000324862.7 12 9 5 0 3 16 85 PRPF3:single_exon:E11 0.500000 100 PRPF3:exon_block:E10-E12 0.916667 358 PRPF3:boundary_CDS_coverage:after_E5 1.000000 1542 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPF31 ENST00000321030.9 261 196 101 0 65 14 73 PRPF31:single_exon:E7 0.114943 170 PRPF31:exon_block:E7-E11 0.455939 619 PRPF31:boundary_CDS_coverage:after_E1 1.000000 1497 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPF4 ENST00000374198.5 1 1 1 0 0 14 73 PRPF4:single_exon:E10 1.000000 90 PRPF4:exon_block:E10-E11 1.000000 213 PRPF4:boundary_CDS_coverage:after_E9 1.000000 631 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPF6 ENST00000266079.5 2 2 0 0 0 21 115 PRPF6:single_exon:E12 0.500000 123 PRPF6:exon_block:E12-E13 0.500000 245 PRPF6:boundary_CDS_coverage:after_E4 1.000000 2385 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPF8 ENST00000304992.11 77 73 13 1 3 43 247 PRPF8:single_exon:E43 0.428571 328 PRPF8:exon_block:E39-E43 0.506494 954 PRPF8:boundary_CDS_coverage:after_E1 1.000000 7005 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPH ENST00000257860.9 3 1 2 0 2 9 43 PRPH:single_exon:E5 0.666667 126 PRPH:exon_block:E3-E5 1.000000 390 PRPH:boundary_CDS_coverage:after_E2 1.000000 804 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPH2 ENST00000230381.7 361 348 29 0 13 3 8 PRPH2:single_exon:E2 0.468144 247 PRPH2:exon_block:E1-E3 1.000000 3001 PRPH2:boundary_CDS_coverage:after_E1 0.576177 457 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRPS1 ENST00000372435.10 45 43 6 0 2 7 31 PRPS1:single_exon:E3 0.266667 99 PRPS1:exon_block:E2-E6 0.822222 742 PRPS1:boundary_CDS_coverage:after_E1 0.911111 832 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRR12 ENST00000418929.7 74 72 3 0 2 14 73 PRR12:single_exon:E4 0.756757 3317 PRR12:exon_block:E2-E6 0.918919 4687 PRR12:boundary_CDS_coverage:after_E1 0.986486 6022 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRRT2 ENST00000358758.12 156 144 16 3 9 4 13 PRRT2:single_exon:E2 0.743590 944 PRRT2:exon_block:E2-E4 0.993590 2331 PRRT2:boundary_CDS_coverage:after_E1 1.000000 1020 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRRX1 ENST00000239461.11 6 6 0 0 0 4 13 PRRX1:single_exon:E2 0.833333 176 PRRX1:exon_block:E2-E4 1.000000 3732 PRRX1:boundary_CDS_coverage:after_E1 1.000000 494 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRSS1 ENST00000311737.12 11 10 1 0 1 5 19 PRSS1:single_exon:E3 0.545455 254 PRSS1:exon_block:E2-E3 0.909091 414 PRSS1:boundary_CDS_coverage:after_E1 1.000000 701 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRSS12 ENST00000296498.3 2 2 0 0 0 13 67 PRSS12:single_exon:E8 0.500000 142 PRSS12:exon_block:E7-E8 0.500000 339 PRSS12:boundary_CDS_coverage:after_E7 0.500000 1136 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRSS23 ENST00000280258.6 65 0 0 0 0 2 4 PRSS23:single_exon:E1 0.000000 110 PRSS23:exon_block:E1-E2 0.000000 3713 PRSS23:boundary_CDS_coverage:after_E1 1.000000 1149 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRSS56 ENST00000617714.2 24 22 7 0 2 13 67 PRSS56:single_exon:E7 0.166667 143 PRSS56:exon_block:E6-E10 0.666667 805 PRSS56:boundary_CDS_coverage:after_E2 0.916667 1604 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRUNE1 ENST00000271620.8 26 23 6 0 3 8 37 PRUNE1:single_exon:E4 0.269231 185 PRUNE1:exon_block:E2-E6 0.769231 735 PRUNE1:boundary_CDS_coverage:after_E1 0.923077 1320 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PRX ENST00000324001.8 91 87 5 0 4 7 31 PRX:single_exon:E7 0.813187 4203 PRX:exon_block:E4-E7 1.000000 4683 PRX:boundary_CDS_coverage:after_E4 1.000000 4356 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSAP ENST00000394936.8 96 67 38 1 28 14 73 PSAP:single_exon:E6 0.145833 144 PSAP:exon_block:E6-E10 0.500000 616 PSAP:boundary_CDS_coverage:after_E1 0.968750 1532 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSAT1 ENST00000376588.4 34 29 9 0 5 9 43 PSAT1:single_exon:E5 0.294118 173 PSAT1:exon_block:E4-E8 0.735294 816 PSAT1:boundary_CDS_coverage:after_E1 0.970588 1050 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSD ENST00000020673.6 1 0 0 0 0 17 91 PSD:single_exon:E11 0.000000 44 PSD:exon_block:E10-E11 0.000000 134 PSD:boundary_CDS_coverage:after_E16 1.000000 228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSEN1 ENST00000324501.10 143 138 24 0 5 12 61 PSEN1:single_exon:E7 0.188811 221 PSEN1:exon_block:E4-E8 0.769231 781 PSEN1:boundary_CDS_coverage:after_E3 1.000000 1314 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSEN2 ENST00000366783.8 10 8 4 0 2 13 67 PSEN2:single_exon:E6 0.300000 142 PSEN2:exon_block:E5-E9 1.000000 745 PSEN2:boundary_CDS_coverage:after_E4 1.000000 1203 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSENEN ENST00000587708.7 7 3 4 0 4 4 13 PSENEN:single_exon:E3 0.428571 105 PSENEN:exon_block:E2-E4 1.000000 1074 PSENEN:boundary_CDS_coverage:after_E1 1.000000 303 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSKH1 ENST00000291041.6 3 3 0 0 0 3 8 PSKH1:single_exon:E2 1.000000 1027 PSKH1:exon_block:E1-E2 1.000000 1145 PSKH1:boundary_CDS_coverage:after_E1 1.000000 1272 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMA3 ENST00000216455.9 2 1 1 0 1 11 55 PSMA3:single_exon:E10 0.500000 65 PSMA3:exon_block:E9-E10 0.500000 133 PSMA3:boundary_CDS_coverage:after_E5 1.000000 361 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMB1 ENST00000262193.7 1 1 1 0 0 6 25 PSMB1:single_exon:E4 1.000000 130 PSMB1:exon_block:E3-E4 1.000000 212 PSMB1:boundary_CDS_coverage:after_E3 1.000000 420 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMB10 ENST00000358514.9 9 7 4 0 2 8 37 PSMB10:single_exon:E7 0.333333 152 PSMB10:exon_block:E3-E7 0.777778 566 PSMB10:boundary_CDS_coverage:after_E2 0.777778 675 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMB4 ENST00000290541.7 2 2 0 0 0 7 31 PSMB4:single_exon:E5 1.000000 117 PSMB4:exon_block:E4-E5 1.000000 199 PSMB4:boundary_CDS_coverage:after_E4 1.000000 216 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMB8 ENST00000374882.8 21 18 2 0 2 6 25 PSMB8:single_exon:E3 0.238095 112 PSMB8:exon_block:E1-E5 0.904762 793 PSMB8:boundary_CDS_coverage:after_E1 0.761905 681 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMB9 ENST00000374859.3 2 1 1 0 1 6 25 PSMB9:single_exon:E2 0.500000 68 PSMB9:exon_block:E2-E5 1.000000 472 PSMB9:boundary_CDS_coverage:after_E2 1.000000 529 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMC1 ENST00000261303.13 1 1 0 0 0 11 55 PSMC1:single_exon:E9 1.000000 152 PSMC1:exon_block:E9-E10 1.000000 307 PSMC1:boundary_CDS_coverage:after_E8 1.000000 439 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMC3 ENST00000298852.8 11 10 1 0 1 12 61 PSMC3:single_exon:E9 0.363636 97 PSMC3:exon_block:E6-E9 0.818182 528 PSMC3:boundary_CDS_coverage:after_E5 1.000000 864 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMC3IP ENST00000393795.8 5 5 2 0 0 8 37 PSMC3IP:single_exon:E3 0.400000 90 PSMC3IP:exon_block:E3-E4 0.600000 202 PSMC3IP:boundary_CDS_coverage:after_E2 1.000000 516 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMC5 ENST00000310144.11 3 3 2 0 0 12 61 PSMC5:single_exon:E11 0.333333 87 PSMC5:exon_block:E9-E11 1.000000 297 PSMC5:boundary_CDS_coverage:after_E8 1.000000 348 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMD11 ENST00000261712.8 3 2 1 0 1 14 72 PSMD11:single_exon:E6 0.666667 195 PSMD11:exon_block:E6-E9 1.000000 464 PSMD11:boundary_CDS_coverage:after_E5 1.000000 818 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMD12 ENST00000356126.8 30 26 8 0 4 11 55 PSMD12:single_exon:E4 0.166667 108 PSMD12:exon_block:E4-E8 0.600000 611 PSMD12:boundary_CDS_coverage:after_E1 1.000000 1260 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSMG2 ENST00000317615.11 14 1 0 0 0 7 31 PSMG2:single_exon:E6 0.071429 121 PSMG2:exon_block:E5-E6 0.071429 295 PSMG2:boundary_CDS_coverage:after_E5 0.071429 211 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSORS1C1 ENST00000259881.10 9 0 0 0 9 6 25 PSORS1C1:single_exon:E4 0.000000 30 PSORS1C1:exon_block:E3-E4 0.000000 107 PSORS1C1:boundary_CDS_coverage:after_E1 1.000000 456 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSPH ENST00000275605.8 5 5 1 0 0 8 37 PSPH:single_exon:E5 0.400000 135 PSPH:exon_block:E4-E6 1.000000 440 PSPH:boundary_CDS_coverage:after_E1 1.000000 675 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PSTPIP1 ENST00000558012.6 4 4 2 0 0 15 79 PSTPIP1:single_exon:E11 0.750000 97 PSTPIP1:exon_block:E10-E11 1.000000 196 PSTPIP1:boundary_CDS_coverage:after_E9 1.000000 606 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTBP1 ENST00000356948.11 9 9 7 0 0 15 79 PTBP1:single_exon:E1 0.666667 54 PTBP1:exon_block:E1-E4 1.000000 334 PTBP1:boundary_CDS_coverage:after_E2 0.333333 1632 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTBP2 ENST00000674951.1 2 2 2 0 0 14 73 PTBP2:single_exon:E3 0.500000 76 PTBP2:exon_block:E1-E3 1.000000 196 PTBP2:boundary_CDS_coverage:after_E2 0.500000 1554 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTCD3 ENST00000254630.12 10 5 6 0 5 24 133 PTCD3:single_exon:E15 0.200000 90 PTCD3:exon_block:E15-E19 0.400000 396 PTCD3:boundary_CDS_coverage:after_E6 1.000000 1653 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTCH1 ENST00000331920.11 736 615 197 0 116 24 132 PTCH1:single_exon:E15 0.099185 310 PTCH1:exon_block:E14-E18 0.335598 1321 PTCH1:boundary_CDS_coverage:after_E1 0.982337 4140 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTCH2 ENST00000372192.4 3 2 1 0 1 22 121 PTCH2:single_exon:E21 0.333333 100 PTCH2:exon_block:E20-E21 0.333333 243 PTCH2:boundary_CDS_coverage:after_E9 1.000000 2394 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTCHD1 ENST00000379361.5 29 29 0 0 0 3 8 PTCHD1:single_exon:E3 0.655172 11844 PTCHD1:exon_block:E1-E3 1.000000 12883 PTCHD1:boundary_CDS_coverage:after_E1 0.862069 2313 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTCRA ENST00000304672.6 1 1 0 0 0 4 13 PTCRA:single_exon:E2 1.000000 321 PTCRA:exon_block:E2-E3 1.000000 366 PTCRA:boundary_CDS_coverage:after_E1 1.000000 785 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTDSS1 ENST00000517309.6 8 8 0 0 0 13 67 PTDSS1:single_exon:E7 0.500000 142 PTDSS1:exon_block:E3-E7 0.875000 623 PTDSS1:boundary_CDS_coverage:after_E2 1.000000 1148 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTEN ENST00000371953.8 1243 1076 294 12 148 9 43 PTEN:single_exon:E5 0.241352 239 PTEN:exon_block:E4-E8 0.736927 817 PTEN:boundary_CDS_coverage:after_E1 0.910700 1130 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTF1A ENST00000376504.4 7 6 1 0 1 2 4 PTF1A:single_exon:E1 0.857143 1003 PTF1A:exon_block:E1-E2 1.000000 1545 PTF1A:boundary_CDS_coverage:after_E1 0.285714 200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTGER2 ENST00000245457.6 1 1 0 0 0 2 4 PTGER2:single_exon:E1 1.000000 1080 PTGER2:exon_block:E1-E2 1.000000 2458 PTGER2:boundary_CDS_coverage:after_E1 0.000000 231 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTGIS ENST00000244043.5 2 1 1 0 1 10 49 PTGIS:single_exon:E9 0.500000 152 PTGIS:exon_block:E6-E9 1.000000 685 PTGIS:boundary_CDS_coverage:after_E5 1.000000 827 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTH ENST00000282091.6 8 6 3 0 2 3 8 PTH:single_exon:E2 0.750000 91 PTH:exon_block:E2-E3 1.000000 704 PTH:boundary_CDS_coverage:after_E1 1.000000 345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTH1R ENST00000449590.6 32 25 11 0 7 16 85 PTH1R:single_exon:E14 0.187500 142 PTH1R:exon_block:E11-E15 0.437500 407 PTH1R:boundary_CDS_coverage:after_E1 1.000000 1779 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTH2R ENST00000272847.7 1 1 0 0 0 13 67 PTH2R:single_exon:E5 1.000000 98 PTH2R:exon_block:E4-E5 1.000000 220 PTH2R:boundary_CDS_coverage:after_E4 1.000000 1239 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTHLH ENST00000545234.6 21 19 2 1 1 6 25 PTHLH:single_exon:E5 0.571429 423 PTHLH:exon_block:E4-E6 1.000000 1031 PTHLH:boundary_CDS_coverage:after_E1 1.000000 531 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPA ENST00000393370.7 2 2 1 0 0 10 49 PTPA:single_exon:E9 0.500000 108 PTPA:exon_block:E5-E9 1.000000 552 PTPA:boundary_CDS_coverage:after_E4 1.000000 627 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPMT1 ENST00000326674.10 1 1 1 0 0 4 13 PTPMT1:single_exon:E2 1.000000 81 PTPMT1:exon_block:E2-E3 1.000000 273 PTPMT1:boundary_CDS_coverage:after_E2 1.000000 348 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPN1 ENST00000371621.5 3 3 0 0 0 10 49 PTPN1:single_exon:E5 0.666667 138 PTPN1:exon_block:E5-E6 1.000000 348 PTPN1:boundary_CDS_coverage:after_E4 1.000000 951 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPN11 ENST00000351677.7 190 181 34 0 9 16 84 PTPN11:single_exon:E3 0.342105 195 PTPN11:exon_block:E3-E7 0.578947 716 PTPN11:boundary_CDS_coverage:after_E1 0.984211 1765 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPN12 ENST00000248594.11 1 1 0 0 0 18 97 PTPN12:single_exon:E2 1.000000 109 PTPN12:exon_block:E2-E3 1.000000 186 PTPN12:boundary_CDS_coverage:after_E1 1.000000 2241 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPN14 ENST00000366956.10 4 3 1 0 1 19 103 PTPN14:single_exon:E4 0.250000 98 PTPN14:exon_block:E13-E17 0.500000 2205 PTPN14:boundary_CDS_coverage:after_E3 1.000000 3217 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPN23 ENST00000265562.5 52 47 6 0 5 25 139 PTPN23:single_exon:E20 0.519231 1759 PTPN23:exon_block:E18-E22 0.730769 2381 PTPN23:boundary_CDS_coverage:after_E1 1.000000 4824 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPN4 ENST00000263708.7 12 9 4 0 3 27 151 PTPN4:single_exon:E3 0.250000 108 PTPN4:exon_block:E2-E3 0.500000 263 PTPN4:boundary_CDS_coverage:after_E1 1.000000 2778 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRA ENST00000399903.7 6 0 0 0 0 24 133 PTPRA:single_exon:E6 0.000000 27 PTPRA:exon_block:E6-E7 0.000000 112 PTPRA:boundary_CDS_coverage:after_E23 0.000000 72 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRC ENST00000442510.8 39 21 23 0 18 33 187 PTPRC:single_exon:E23 0.102564 126 PTPRC:exon_block:E4-E8 0.256410 585 PTPRC:boundary_CDS_coverage:after_E2 1.000000 3845 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRF ENST00000359947.9 1 1 0 0 0 34 193 PTPRF:single_exon:E12 1.000000 306 PTPRF:exon_block:E11-E12 1.000000 451 PTPRF:boundary_CDS_coverage:after_E11 1.000000 3908 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRJ ENST00000418331.7 3 1 2 0 2 25 139 PTPRJ:single_exon:E2 0.333333 19 PTPRJ:exon_block:E2-E5 0.666667 778 PTPRJ:boundary_CDS_coverage:after_E1 1.000000 3915 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRO ENST00000281171.9 10 5 5 0 5 27 150 PTPRO:single_exon:E18 0.200000 36 PTPRO:exon_block:E16-E19 0.500000 271 PTPRO:boundary_CDS_coverage:after_E5 1.000000 2543 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRQ ENST00000644991.3 60 45 18 0 15 45 259 PTPRQ:single_exon:E9 0.083333 173 PTPRQ:exon_block:E9-E13 0.183333 804 PTPRQ:boundary_CDS_coverage:after_E2 0.966667 6734 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRS ENST00000262963.11 1 1 0 0 0 38 217 PTPRS:single_exon:E31 1.000000 155 PTPRS:exon_block:E30-E31 1.000000 275 PTPRS:boundary_CDS_coverage:after_E30 1.000000 1230 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRT ENST00000373187.6 2 1 2 0 1 31 175 PTPRT:single_exon:E2 0.500000 126 PTPRT:exon_block:E10-E11 0.500000 305 PTPRT:boundary_CDS_coverage:after_E1 1.000000 4235 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTPRU ENST00000373779.8 2 2 0 0 0 30 169 PTPRU:single_exon:E29 0.500000 136 PTPRU:exon_block:E16-E17 0.500000 267 PTPRU:boundary_CDS_coverage:after_E15 1.000000 1832 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTRH2 ENST00000393038.3 9 9 0 0 0 2 4 PTRH2:single_exon:E2 1.000000 671 PTRH2:exon_block:E1-E2 1.000000 731 PTRH2:boundary_CDS_coverage:after_E1 1.000000 537 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTRHD1 ENST00000328379.6 4 4 0 0 0 2 4 PTRHD1:single_exon:E1 0.750000 266 PTRHD1:exon_block:E1-E2 1.000000 1120 PTRHD1:boundary_CDS_coverage:after_E1 0.250000 168 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PTS ENST00000280362.8 106 80 47 0 24 6 25 PTS:single_exon:E6 0.254717 542 PTS:exon_block:E2-E6 0.792453 773 PTS:boundary_CDS_coverage:after_E1 0.820755 352 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PUF60 ENST00000526683.6 105 92 22 0 13 12 61 PUF60:single_exon:E6 0.209524 162 PUF60:exon_block:E6-E10 0.628571 796 PUF60:boundary_CDS_coverage:after_E1 0.990476 1653 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PUM1 ENST00000426105.7 22 21 3 0 1 22 121 PUM1:single_exon:E15 0.181818 268 PUM1:exon_block:E11-E15 0.409091 1085 PUM1:boundary_CDS_coverage:after_E1 1.000000 3564 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PURA ENST00000331327.5 218 215 0 2 0 1 1 PURA:single_exon:E1 0.995413 11511 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PUS1 ENST00000376649.8 78 69 14 0 9 6 25 PUS1:single_exon:E5 0.397436 692 PUS1:exon_block:E1-E5 0.987179 1683 PUS1:boundary_CDS_coverage:after_E1 0.923077 1207 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PUS10 ENST00000316752.11 5 0 0 0 5 18 97 PUS10:single_exon:E5 0.000000 35 PUS10:exon_block:E7-E8 0.000000 108 PUS10:boundary_CDS_coverage:after_E1 1.000000 1587 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PUS3 ENST00000227474.8 37 16 1 0 21 4 13 PUS3:single_exon:E2 0.243243 424 PUS3:exon_block:E2-E4 0.432432 1792 PUS3:boundary_CDS_coverage:after_E1 1.000000 1443 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PUS7 ENST00000469408.6 33 27 10 0 6 16 85 PUS7:single_exon:E2 0.242424 430 PUS7:exon_block:E2-E5 0.454545 762 PUS7:boundary_CDS_coverage:after_E1 1.000000 1983 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PWWP2A ENST00000307063.9 1 0 0 0 0 2 4 PWWP2A:single_exon:E1 0.000000 646 PWWP2A:exon_block:E1-E2 0.000000 3373 PWWP2A:boundary_CDS_coverage:after_E1 1.000000 1681 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PXDN ENST00000252804.9 26 22 6 0 4 23 127 PXDN:single_exon:E17 0.423077 1504 PXDN:exon_block:E15-E19 0.692308 2115 PXDN:boundary_CDS_coverage:after_E6 0.961538 3877 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PYCR1 ENST00000329875.13 46 35 16 0 11 7 31 PYCR1:single_exon:E4 0.282609 222 PYCR1:exon_block:E2-E6 0.891304 730 PYCR1:boundary_CDS_coverage:after_E1 0.934783 890 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PYCR2 ENST00000343818.11 32 26 10 0 6 7 31 PYCR2:single_exon:E4 0.343750 222 PYCR2:exon_block:E2-E6 0.937500 730 PYCR2:boundary_CDS_coverage:after_E1 0.968750 893 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PYGL ENST00000216392.8 74 55 26 0 19 20 109 PYGL:single_exon:E1 0.108108 323 PYGL:exon_block:E4-E8 0.297297 575 PYGL:boundary_CDS_coverage:after_E1 0.905405 2298 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PYGM ENST00000164139.4 294 227 101 1 66 20 109 PYGM:single_exon:E1 0.139456 319 PYGM:exon_block:E1-E5 0.343537 736 PYGM:boundary_CDS_coverage:after_E1 0.863946 2283 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PYROXD1 ENST00000240651.14 30 20 16 0 10 12 61 PYROXD1:single_exon:E11 0.200000 138 PYROXD1:exon_block:E3-E7 0.533333 585 PYROXD1:boundary_CDS_coverage:after_E1 0.933333 1416 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PYURF ENST00000273968.5 2 1 0 1 0 2 4 PYURF:single_exon:E2 1.000000 1032 PYURF:exon_block:E1-E2 1.000000 1311 PYURF:boundary_CDS_coverage:after_E1 1.000000 139 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true PYY ENST00000692052.1 1 0 0 0 0 4 13 PYY:single_exon:E3 0.000000 81 PYY:exon_block:E2-E3 0.000000 269 PYY:boundary_CDS_coverage:after_E3 0.000000 22 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true QARS1 ENST00000306125.12 69 50 29 0 19 24 133 QARS1:single_exon:E18 0.101449 144 QARS1:exon_block:E14-E18 0.347826 594 QARS1:boundary_CDS_coverage:after_E1 0.927536 2208 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true QDPR ENST00000281243.10 61 49 20 0 12 7 31 QDPR:single_exon:E1 0.245902 141 QDPR:exon_block:E1-E5 0.770492 581 QDPR:boundary_CDS_coverage:after_E1 0.803279 627 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true QRICH1 ENST00000395443.7 73 66 9 0 7 10 49 QRICH1:single_exon:E3 0.424658 1029 QRICH1:exon_block:E2-E6 0.821918 1807 QRICH1:boundary_CDS_coverage:after_E1 1.000000 2328 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true QRICH2 ENST00000680821.2 10 8 4 0 2 19 103 QRICH2:single_exon:E7 0.200000 115 QRICH2:exon_block:E14-E18 0.500000 668 QRICH2:boundary_CDS_coverage:after_E2 1.000000 5067 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true QRSL1 ENST00000369046.8 12 10 5 0 2 11 55 QRSL1:single_exon:E5 0.333333 177 QRSL1:exon_block:E4-E8 0.833333 759 QRSL1:boundary_CDS_coverage:after_E1 0.916667 1560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB11A ENST00000261890.7 2 2 0 0 0 5 19 RAB11A:single_exon:E4 0.500000 81 RAB11A:exon_block:E3-E4 1.000000 275 RAB11A:boundary_CDS_coverage:after_E2 1.000000 412 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB11B ENST00000328024.11 6 6 0 0 0 5 19 RAB11B:single_exon:E2 1.000000 196 RAB11B:exon_block:E1-E2 1.000000 293 RAB11B:boundary_CDS_coverage:after_E1 1.000000 614 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB18 ENST00000356940.11 9 7 2 1 1 7 31 RAB18:single_exon:E5 0.444444 119 RAB18:exon_block:E5-E7 0.777778 4550 RAB18:boundary_CDS_coverage:after_E1 1.000000 550 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB1A ENST00000409784.8 1 1 0 0 0 6 25 RAB1A:single_exon:E6 1.000000 1837 RAB1A:exon_block:E5-E6 1.000000 1969 RAB1A:boundary_CDS_coverage:after_E5 1.000000 195 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB23 ENST00000468148.6 38 28 14 0 10 7 31 RAB23:single_exon:E5 0.236842 83 RAB23:exon_block:E2-E6 0.894737 639 RAB23:boundary_CDS_coverage:after_E1 1.000000 711 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB27A ENST00000336787.6 54 47 25 0 7 7 31 RAB27A:single_exon:E6 0.370370 124 RAB27A:exon_block:E3-E7 1.000000 3229 RAB27A:boundary_CDS_coverage:after_E1 1.000000 663 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB28 ENST00000330852.10 20 14 6 0 6 7 31 RAB28:single_exon:E2 0.200000 97 RAB28:exon_block:E1-E5 0.700000 685 RAB28:boundary_CDS_coverage:after_E1 0.850000 588 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB33A ENST00000257017.5 47 0 0 0 0 2 4 RAB33A:single_exon:E1 0.000000 359 RAB33A:exon_block:E1-E2 0.000000 945 RAB33A:boundary_CDS_coverage:after_E1 0.000000 453 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB33B ENST00000305626.6 14 14 1 0 0 2 4 RAB33B:single_exon:E1 0.642857 324 RAB33B:exon_block:E1-E2 1.000000 4248 RAB33B:boundary_CDS_coverage:after_E1 0.357143 438 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB34 ENST00000395245.9 4 4 0 0 0 10 49 RAB34:single_exon:E9 0.750000 108 RAB34:exon_block:E8-E9 0.750000 199 RAB34:boundary_CDS_coverage:after_E3 1.000000 565 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB39B ENST00000369454.4 12 11 1 0 1 2 4 RAB39B:single_exon:E1 0.583333 418 RAB39B:exon_block:E1-E2 1.000000 3413 RAB39B:boundary_CDS_coverage:after_E1 0.500000 424 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB3A ENST00000222256.9 1 1 0 0 0 5 19 RAB3A:single_exon:E3 1.000000 119 RAB3A:exon_block:E3-E4 1.000000 244 RAB3A:boundary_CDS_coverage:after_E2 1.000000 432 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB3GAP1 ENST00000264158.13 74 57 28 0 17 24 133 RAB3GAP1:single_exon:E15 0.121622 173 RAB3GAP1:exon_block:E4-E8 0.283784 598 RAB3GAP1:boundary_CDS_coverage:after_E1 0.986486 2925 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB3GAP2 ENST00000358951.7 46 34 19 0 12 35 199 RAB3GAP2:single_exon:E14 0.108696 217 RAB3GAP2:exon_block:E19-E23 0.239130 707 RAB3GAP2:boundary_CDS_coverage:after_E1 1.000000 4064 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB5IF ENST00000344795.8 1 1 0 0 0 4 13 RAB5IF:single_exon:E1 1.000000 287 RAB5IF:exon_block:E1-E2 1.000000 391 RAB5IF:boundary_CDS_coverage:after_E3 0.000000 39 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB7A ENST00000265062.8 4 4 0 0 0 6 25 RAB7A:single_exon:E5 0.750000 129 RAB7A:exon_block:E4-E5 1.000000 348 RAB7A:boundary_CDS_coverage:after_E3 1.000000 441 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAB9B ENST00000243298.3 174 0 0 0 0 3 8 RAB9B:single_exon:E2 0.000000 74 RAB9B:exon_block:E1-E2 0.000000 272 RAB9B:boundary_CDS_coverage:after_E1 1.000000 603 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RABGAP1 ENST00000373647.9 2 1 1 0 1 26 145 RABGAP1:single_exon:E22 0.500000 105 RABGAP1:exon_block:E21-E22 1.000000 216 RABGAP1:boundary_CDS_coverage:after_E21 1.000000 579 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RABGAP1L ENST00000681986.1 1 0 0 0 1 26 145 RABGAP1L:single_exon:E18 0.000000 42 RABGAP1L:exon_block:E23-E24 0.000000 156 RABGAP1L:boundary_CDS_coverage:after_E1 1.000000 3153 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAC1 ENST00000348035.9 25 25 3 0 0 6 25 RAC1:single_exon:E3 0.680000 118 RAC1:exon_block:E2-E6 1.000000 2065 RAC1:boundary_CDS_coverage:after_E1 1.000000 541 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAC2 ENST00000249071.11 7 7 1 0 0 7 30 RAC2:single_exon:E3 0.571429 118 RAC2:exon_block:E2-E4 1.000000 253 RAC2:boundary_CDS_coverage:after_E1 1.000000 541 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAC3 ENST00000306897.9 11 11 1 0 0 6 25 RAC3:single_exon:E3 0.545455 118 RAC3:exon_block:E1-E5 1.000000 532 RAC3:boundary_CDS_coverage:after_E1 0.909091 541 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RACGAP1 ENST00000312377.10 3 3 0 0 0 17 91 RACGAP1:single_exon:E12 0.666667 199 RACGAP1:exon_block:E8-E12 1.000000 709 RACGAP1:boundary_CDS_coverage:after_E7 1.000000 1266 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD21 ENST00000297338.7 59 53 9 0 6 14 73 RAD21:single_exon:E6 0.203390 207 RAD21:exon_block:E2-E6 0.508475 720 RAD21:boundary_CDS_coverage:after_E1 1.000000 1893 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD21L1 ENST00000683101.1 1 1 0 0 0 14 73 RAD21L1:single_exon:E2 1.000000 176 RAD21L1:exon_block:E1-E2 1.000000 273 RAD21L1:boundary_CDS_coverage:after_E1 1.000000 1665 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD50 ENST00000378823.8 483 399 144 0 84 25 139 RAD50:single_exon:E9 0.078675 207 RAD50:exon_block:E9-E13 0.265010 962 RAD50:boundary_CDS_coverage:after_E1 0.973085 3807 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD51 ENST00000267868.8 13 13 1 0 0 10 49 RAD51:single_exon:E9 0.384615 122 RAD51:exon_block:E5-E9 0.923077 553 RAD51:boundary_CDS_coverage:after_E1 1.000000 1017 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD51AP2 ENST00000399080.3 1 1 0 0 0 3 8 RAD51AP2:single_exon:E1 1.000000 3272 RAD51AP2:exon_block:E1-E2 1.000000 3353 RAD51AP2:boundary_CDS_coverage:after_E2 0.000000 149 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD51B ENST00000471583.6 1 1 0 0 0 11 55 RAD51B:single_exon:E8 1.000000 97 RAD51B:exon_block:E8-E9 1.000000 201 RAD51B:boundary_CDS_coverage:after_E7 1.000000 294 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD51C ENST00000337432.9 322 247 123 1 74 9 43 RAD51C:single_exon:E2 0.248447 259 RAD51C:exon_block:E1-E5 0.770186 879 RAD51C:boundary_CDS_coverage:after_E1 0.906832 983 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD51D ENST00000345365.11 245 187 92 3 55 10 49 RAD51D:single_exon:E9 0.138776 165 RAD51D:exon_block:E3-E7 0.555102 523 RAD51D:boundary_CDS_coverage:after_E1 0.922449 902 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD54B ENST00000336148.10 2 2 0 0 0 15 79 RAD54B:single_exon:E9 0.500000 140 RAD54B:exon_block:E8-E9 1.000000 348 RAD54B:boundary_CDS_coverage:after_E7 1.000000 1560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD54L ENST00000371975.9 9 9 2 0 0 18 97 RAD54L:single_exon:E12 0.222222 131 RAD54L:exon_block:E9-E12 0.444444 484 RAD54L:boundary_CDS_coverage:after_E2 1.000000 2151 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD54L2 ENST00000684192.1 1 1 0 0 0 23 127 RAD54L2:single_exon:E5 1.000000 140 RAD54L2:exon_block:E5-E6 1.000000 257 RAD54L2:boundary_CDS_coverage:after_E4 1.000000 4060 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAD9B ENST00000409300.6 7 7 0 0 0 11 55 RAD9B:single_exon:E7 0.285714 107 RAD9B:exon_block:E7-E11 0.714286 3562 RAD9B:boundary_CDS_coverage:after_E3 0.857143 978 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAF1 ENST00000251849.9 53 53 4 0 0 17 91 RAF1:single_exon:E7 0.603774 154 RAF1:exon_block:E3-E7 0.716981 627 RAF1:boundary_CDS_coverage:after_E2 1.000000 1737 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAG1 ENST00000299440.6 170 170 0 0 0 2 4 RAG1:single_exon:E2 1.000000 6472 RAG1:exon_block:E1-E2 1.000000 6588 RAG1:boundary_CDS_coverage:after_E1 1.000000 3129 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAG2 ENST00000311485.8 147 147 0 0 0 2 4 RAG2:single_exon:E2 1.000000 2253 RAG2:exon_block:E1-E2 1.000000 2388 RAG2:boundary_CDS_coverage:after_E1 1.000000 1581 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAI1 ENST00000353383.6 161 158 2 0 3 6 25 RAI1:single_exon:E3 0.975155 5581 RAI1:exon_block:E3-E5 0.993789 5725 RAI1:boundary_CDS_coverage:after_E1 1.000000 5718 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RALA ENST00000005257.7 13 13 0 0 0 5 19 RALA:single_exon:E4 0.615385 175 RALA:exon_block:E2-E4 1.000000 535 RALA:boundary_CDS_coverage:after_E1 1.000000 618 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RALGAPA1 ENST00000680220.1 12 11 1 0 1 42 240 RALGAPA1:single_exon:E11 0.166667 198 RALGAPA1:exon_block:E7-E11 0.333333 902 RALGAPA1:boundary_CDS_coverage:after_E6 1.000000 7079 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RALGAPB ENST00000262879.11 2 1 1 0 1 30 169 RALGAPB:single_exon:E28 0.500000 79 RALGAPB:exon_block:E27-E28 0.500000 188 RALGAPB:boundary_CDS_coverage:after_E15 1.000000 2237 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RANBP2 ENST00000283195.11 96 5 1 0 0 29 163 RANBP2:single_exon:E20 0.031250 5152 RANBP2:exon_block:E19-E20 0.031250 5247 RANBP2:boundary_CDS_coverage:after_E11 1.000000 8041 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAP1B ENST00000250559.14 6 6 3 0 0 8 36 RAP1B:single_exon:E4 0.500000 57 RAP1B:exon_block:E2-E4 1.000000 209 RAP1B:boundary_CDS_coverage:after_E1 1.000000 552 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAP1GDS1 ENST00000408927.8 2 1 1 0 1 15 79 RAP1GDS1:single_exon:E2 0.500000 108 RAP1GDS1:exon_block:E2-E3 0.500000 231 RAP1GDS1:boundary_CDS_coverage:after_E1 1.000000 1817 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAPGEF5 ENST00000665637.1 1 1 0 0 0 26 145 RAPGEF5:single_exon:E24 1.000000 65 RAPGEF5:exon_block:E24-E25 1.000000 120 RAPGEF5:boundary_CDS_coverage:after_E23 1.000000 233 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAPSN ENST00000298854.7 112 94 25 0 16 8 37 RAPSN:single_exon:E2 0.321429 339 RAPSN:exon_block:E1-E5 0.750000 1084 RAPSN:boundary_CDS_coverage:after_E1 0.812500 1044 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RARB ENST00000330688.9 27 26 6 0 1 8 37 RARB:single_exon:E8 0.481481 1513 RARB:exon_block:E4-E8 0.925926 2215 RARB:boundary_CDS_coverage:after_E2 1.000000 1038 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RARS1 ENST00000231572.8 35 31 8 0 4 15 79 RARS1:single_exon:E1 0.200000 73 RARS1:exon_block:E1-E5 0.457143 607 RARS1:boundary_CDS_coverage:after_E1 0.828571 1935 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RARS2 ENST00000369536.10 242 171 104 0 71 20 109 RARS2:single_exon:E1 0.086777 66 RARS2:exon_block:E14-E18 0.289256 474 RARS2:boundary_CDS_coverage:after_E1 0.925620 1698 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RASA1 ENST00000274376.11 285 213 107 0 72 25 139 RASA1:single_exon:E1 0.105263 1108 RASA1:exon_block:E15-E19 0.280702 669 RASA1:boundary_CDS_coverage:after_E1 0.912281 2602 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RASA2 ENST00000286364.9 1 1 0 0 0 24 133 RASA2:single_exon:E8 1.000000 77 RASA2:exon_block:E7-E8 1.000000 150 RASA2:boundary_CDS_coverage:after_E7 1.000000 1863 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RASA3 ENST00000334062.8 2 2 0 0 0 24 133 RASA3:single_exon:E3 0.500000 104 RASA3:exon_block:E3-E4 0.500000 199 RASA3:boundary_CDS_coverage:after_E2 1.000000 2329 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RASGRP1 ENST00000310803.10 30 22 13 0 8 17 91 RASGRP1:single_exon:E8 0.133333 117 RASGRP1:exon_block:E7-E11 0.466667 753 RASGRP1:boundary_CDS_coverage:after_E2 1.000000 2171 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RASGRP2 ENST00000394432.8 30 24 9 0 6 17 90 RASGRP2:single_exon:E9 0.300000 282 RASGRP2:exon_block:E8-E12 0.633333 716 RASGRP2:boundary_CDS_coverage:after_E2 1.000000 1754 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RASL12 ENST00000220062.9 1 0 0 0 0 5 19 RASL12:single_exon:E2 0.000000 57 RASL12:exon_block:E2-E3 0.000000 131 RASL12:boundary_CDS_coverage:after_E4 1.000000 373 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RASSF1 ENST00000359365.9 1 0 0 0 0 6 25 RASSF1:single_exon:E3 0.000000 105 RASSF1:exon_block:E2-E3 0.000000 212 RASSF1:boundary_CDS_coverage:after_E5 0.000000 144 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAX ENST00000334889.4 11 10 1 0 1 3 8 RAX:single_exon:E1 0.363636 537 RAX:exon_block:E1-E3 1.000000 3255 RAX:boundary_CDS_coverage:after_E1 0.636364 749 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RAX2 ENST00000555633.3 10 8 0 0 2 3 8 RAX2:single_exon:E2 0.500000 484 RAX2:exon_block:E2-E3 0.800000 2355 RAX2:boundary_CDS_coverage:after_E1 1.000000 552 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RB1 ENST00000267163.6 947 690 352 0 245 27 151 RB1:single_exon:E17 0.074974 197 RB1:exon_block:E17-E21 0.263992 713 RB1:boundary_CDS_coverage:after_E1 0.928194 2647 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RB1CC1 ENST00000025008.10 1 1 0 0 0 24 133 RB1CC1:single_exon:E13 1.000000 104 RB1CC1:exon_block:E12-E13 1.000000 166 RB1CC1:boundary_CDS_coverage:after_E12 1.000000 3093 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBBP5 ENST00000264515.11 2 2 0 0 0 14 73 RBBP5:single_exon:E7 0.500000 120 RBBP5:exon_block:E6-E7 0.500000 230 RBBP5:boundary_CDS_coverage:after_E6 1.000000 982 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBBP7 ENST00000380087.7 1 1 1 0 0 12 61 RBBP7:single_exon:E11 1.000000 111 RBBP7:exon_block:E10-E11 1.000000 169 RBBP7:boundary_CDS_coverage:after_E10 1.000000 177 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBBP8 ENST00000327155.10 11 9 3 0 2 19 103 RBBP8:single_exon:E11 0.272727 892 RBBP8:exon_block:E11-E15 0.545455 1367 RBBP8:boundary_CDS_coverage:after_E2 1.000000 2582 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBCK1 ENST00000356286.10 49 42 10 0 7 12 61 RBCK1:single_exon:E6 0.285714 174 RBCK1:exon_block:E5-E9 0.755102 749 RBCK1:boundary_CDS_coverage:after_E1 1.000000 1508 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBFOX1 ENST00000550418.6 4 3 0 0 1 16 85 RBFOX1:single_exon:E8 0.250000 93 RBFOX1:exon_block:E6-E8 0.500000 291 RBFOX1:boundary_CDS_coverage:after_E4 1.000000 1164 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBFOX2 ENST00000695854.1 4 4 2 0 0 14 73 RBFOX2:single_exon:E12 0.250000 89 RBFOX2:exon_block:E3-E6 0.750000 519 RBFOX2:boundary_CDS_coverage:after_E2 1.000000 1104 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBFOX3 ENST00000693108.1 1 1 1 0 0 15 78 RBFOX3:single_exon:E14 1.000000 79 RBFOX3:exon_block:E13-E14 1.000000 141 RBFOX3:boundary_CDS_coverage:after_E13 1.000000 79 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBL2 ENST00000262133.11 9 8 2 0 1 22 121 RBL2:single_exon:E6 0.222222 161 RBL2:exon_block:E3-E6 0.444444 556 RBL2:boundary_CDS_coverage:after_E2 1.000000 3046 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBM10 ENST00000377604.8 39 29 12 0 10 24 133 RBM10:single_exon:E4 0.153846 231 RBM10:exon_block:E3-E7 0.307692 646 RBM10:boundary_CDS_coverage:after_E2 1.000000 2773 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBM12 ENST00000374114.8 2 2 0 0 0 3 8 RBM12:single_exon:E3 1.000000 6420 RBM12:exon_block:E2-E3 1.000000 6505 RBM12:boundary_CDS_coverage:after_E1 1.000000 2796 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBM20 ENST00000369519.4 105 94 19 0 11 14 73 RBM20:single_exon:E2 0.314286 1084 RBM20:exon_block:E9-E13 0.514286 1693 RBM20:boundary_CDS_coverage:after_E1 0.952381 3490 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBM28 ENST00000223073.6 5 4 2 0 1 19 103 RBM28:single_exon:E13 0.200000 65 RBM28:exon_block:E10-E14 0.600000 544 RBM28:boundary_CDS_coverage:after_E5 1.000000 1736 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBM48 ENST00000265732.10 1 1 0 0 0 5 19 RBM48:single_exon:E4 1.000000 569 RBM48:exon_block:E3-E4 1.000000 715 RBM48:boundary_CDS_coverage:after_E3 1.000000 653 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBM5 ENST00000347869.8 1 1 0 0 0 25 139 RBM5:single_exon:E4 1.000000 156 RBM5:exon_block:E4-E5 1.000000 226 RBM5:boundary_CDS_coverage:after_E3 1.000000 2262 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBM8A ENST00000583313.7 11 2 6 3 6 6 25 RBM8A:single_exon:E3 0.181818 78 RBM8A:exon_block:E1-E5 0.636364 537 RBM8A:boundary_CDS_coverage:after_E1 0.818182 455 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBMX ENST00000320676.11 10 10 1 0 0 9 43 RBMX:single_exon:E9 0.500000 992 RBMX:exon_block:E5-E9 0.600000 1469 RBMX:boundary_CDS_coverage:after_E1 1.000000 1173 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBP3 ENST00000584701.2 41 41 4 0 0 4 13 RBP3:single_exon:E1 0.829268 3176 RBP3:exon_block:E1-E4 1.000000 4290 RBP3:boundary_CDS_coverage:after_E1 0.170732 687 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBP4 ENST00000371464.8 19 13 10 0 6 6 25 RBP4:single_exon:E3 0.315789 137 RBP4:exon_block:E2-E6 1.000000 1005 RBP4:boundary_CDS_coverage:after_E1 1.000000 603 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBPJ ENST00000355476.8 7 7 4 0 0 11 55 RBPJ:single_exon:E3 0.571429 96 RBPJ:exon_block:E3-E5 0.857143 437 RBPJ:boundary_CDS_coverage:after_E2 1.000000 1402 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RBSN ENST00000253699.7 3 3 1 0 0 14 73 RBSN:single_exon:E8 0.666667 162 RBSN:exon_block:E5-E8 1.000000 450 RBSN:boundary_CDS_coverage:after_E5 1.000000 2063 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RC3H1 ENST00000367696.7 1 1 0 0 0 20 109 RC3H1:single_exon:E12 1.000000 371 RC3H1:exon_block:E12-E13 1.000000 539 RC3H1:boundary_CDS_coverage:after_E11 1.000000 1568 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RCBTB1 ENST00000378302.7 34 25 11 0 9 13 67 RCBTB1:single_exon:E10 0.176471 127 RCBTB1:exon_block:E7-E11 0.617647 721 RCBTB1:boundary_CDS_coverage:after_E1 1.000000 1593 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RCC1 ENST00000683442.1 5 5 0 0 0 13 67 RCC1:single_exon:E7 0.400000 180 RCC1:exon_block:E6-E10 1.000000 744 RCC1:boundary_CDS_coverage:after_E5 1.000000 1190 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RCHY1 ENST00000324439.10 1 1 0 0 0 9 43 RCHY1:single_exon:E2 1.000000 120 RCHY1:exon_block:E2-E3 1.000000 236 RCHY1:boundary_CDS_coverage:after_E1 1.000000 693 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RCL1 ENST00000381750.9 1 1 0 0 0 9 43 RCL1:single_exon:E3 1.000000 176 RCL1:exon_block:E2-E3 1.000000 248 RCL1:boundary_CDS_coverage:after_E2 1.000000 911 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RCOR1 ENST00000262241.7 1 0 1 0 1 12 61 RCOR1:single_exon:E4 1.000000 53 RCOR1:exon_block:E3-E4 1.000000 137 RCOR1:boundary_CDS_coverage:after_E3 1.000000 1010 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RD3 ENST00000680073.1 14 11 2 1 2 3 8 RD3:single_exon:E2 0.785714 307 RD3:exon_block:E2-E3 1.000000 3113 RD3:boundary_CDS_coverage:after_E1 1.000000 585 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RDH11 ENST00000381346.9 9 8 2 0 1 7 31 RDH11:single_exon:E3 0.666667 156 RDH11:exon_block:E3-E6 1.000000 661 RDH11:boundary_CDS_coverage:after_E2 1.000000 761 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RDH12 ENST00000551171.6 152 130 33 0 22 9 43 RDH12:single_exon:E8 0.309211 190 RDH12:exon_block:E4-E8 0.875000 780 RDH12:boundary_CDS_coverage:after_E1 1.000000 948 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RDH14 ENST00000381249.4 1 1 0 0 0 2 4 RDH14:single_exon:E1 1.000000 474 RDH14:exon_block:E1-E2 1.000000 1560 RDH14:boundary_CDS_coverage:after_E1 0.000000 615 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RDH5 ENST00000257895.10 58 55 4 0 3 5 19 RDH5:single_exon:E3 0.275862 259 RDH5:exon_block:E1-E5 1.000000 1274 RDH5:boundary_CDS_coverage:after_E1 1.000000 954 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RDH8 ENST00000591589.3 1 0 1 0 1 6 25 RDH8:single_exon:E2 1.000000 159 RDH8:exon_block:E1-E2 1.000000 277 RDH8:boundary_CDS_coverage:after_E2 1.000000 671 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RDX ENST00000645495.2 23 19 6 0 4 14 73 RDX:single_exon:E11 0.173913 161 RDX:exon_block:E5-E9 0.521739 767 RDX:boundary_CDS_coverage:after_E2 1.000000 1737 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REC114 ENST00000331090.11 2 1 1 0 1 6 25 REC114:single_exon:E4 1.000000 213 REC114:exon_block:E3-E4 1.000000 297 REC114:boundary_CDS_coverage:after_E3 1.000000 465 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REC8 ENST00000611366.5 3 2 2 0 1 19 103 REC8:single_exon:E11 0.333333 50 REC8:exon_block:E11-E13 0.666667 249 REC8:boundary_CDS_coverage:after_E7 1.000000 1017 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RECQL ENST00000444129.7 9 5 4 0 3 15 79 RECQL:single_exon:E6 0.444444 199 RECQL:exon_block:E6-E10 0.666667 715 RECQL:boundary_CDS_coverage:after_E1 1.000000 1947 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RECQL4 ENST00000617875.6 385 315 102 0 70 21 115 RECQL4:single_exon:E5 0.189610 777 RECQL4:exon_block:E5-E9 0.332468 1266 RECQL4:boundary_CDS_coverage:after_E1 0.971429 3540 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REDIC1 ENST00000324616.9 1 1 0 0 0 13 67 REDIC1:single_exon:E4 1.000000 133 REDIC1:exon_block:E4-E5 1.000000 182 REDIC1:boundary_CDS_coverage:after_E3 1.000000 1754 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REEP1 ENST00000538924.7 87 57 37 0 29 9 43 REEP1:single_exon:E2 0.218391 73 REEP1:exon_block:E2-E6 0.931034 563 REEP1:boundary_CDS_coverage:after_E1 0.977011 820 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REEP2 ENST00000378339.7 7 5 3 0 2 8 37 REEP2:single_exon:E3 0.285714 77 REEP2:exon_block:E2-E6 0.857143 533 REEP2:boundary_CDS_coverage:after_E2 1.000000 657 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REEP6 ENST00000233596.8 26 15 7 1 10 5 19 REEP6:single_exon:E4 0.384615 169 REEP6:exon_block:E1-E4 0.846154 606 REEP6:boundary_CDS_coverage:after_E1 0.923077 437 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REL ENST00000394479.4 7 2 3 0 5 10 49 REL:single_exon:E8 0.285714 69 REL:exon_block:E5-E8 0.571429 528 REL:boundary_CDS_coverage:after_E1 1.000000 1751 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RELA ENST00000406246.8 42 38 9 0 4 11 55 RELA:single_exon:E11 0.309524 1400 RELA:exon_block:E7-E11 0.571429 1874 RELA:boundary_CDS_coverage:after_E1 1.000000 1646 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RELB ENST00000221452.13 2 1 1 0 1 12 61 RELB:single_exon:E5 0.500000 158 RELB:exon_block:E5-E9 1.000000 703 RELB:boundary_CDS_coverage:after_E5 1.000000 1075 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RELN ENST00000428762.6 117 96 35 0 21 65 379 RELN:single_exon:E59 0.042735 162 RELN:exon_block:E41-E45 0.128205 1108 RELN:boundary_CDS_coverage:after_E1 0.982906 10154 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RELT ENST00000064780.7 8 6 2 0 2 11 55 RELT:single_exon:E4 0.375000 167 RELT:exon_block:E3-E6 0.625000 580 RELT:boundary_CDS_coverage:after_E3 1.000000 1170 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REN ENST00000272190.9 23 21 5 0 2 10 49 REN:single_exon:E1 0.347826 142 REN:exon_block:E1-E5 0.782609 733 REN:boundary_CDS_coverage:after_E1 0.652174 1120 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REPS1 ENST00000450536.7 1 1 0 0 0 20 109 REPS1:single_exon:E2 1.000000 124 REPS1:exon_block:E2-E3 1.000000 321 REPS1:boundary_CDS_coverage:after_E1 1.000000 2235 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RERE ENST00000400908.7 66 60 8 0 6 23 127 RERE:single_exon:E20 0.363636 721 RERE:exon_block:E18-E22 0.681818 2651 RERE:boundary_CDS_coverage:after_E1 1.000000 4698 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REST ENST00000309042.12 25 24 1 0 1 4 13 REST:single_exon:E2 0.520000 907 REST:exon_block:E2-E4 0.960000 6995 REST:boundary_CDS_coverage:after_E1 1.000000 3291 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RET ENST00000355710.8 170 156 23 1 13 20 109 RET:single_exon:E10 0.182353 120 RET:exon_block:E7-E11 0.470588 873 RET:boundary_CDS_coverage:after_E1 0.982353 3269 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RETREG1 ENST00000306320.10 25 20 8 0 5 9 43 RETREG1:single_exon:E1 0.320000 346 RETREG1:exon_block:E1-E5 0.760000 696 RETREG1:boundary_CDS_coverage:after_E1 0.720000 1171 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RETREG3 ENST00000309428.10 1 0 0 0 0 9 43 RETREG3:single_exon:E3 0.000000 31 RETREG3:exon_block:E2-E3 0.000000 138 RETREG3:boundary_CDS_coverage:after_E8 0.000000 455 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true REV3L ENST00000368802.8 3 3 1 0 0 32 181 REV3L:single_exon:E4 0.333333 161 REV3L:exon_block:E3-E4 0.333333 236 REV3L:boundary_CDS_coverage:after_E3 1.000000 8986 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFC1 ENST00000349703.7 7 4 3 0 3 25 139 RFC1:single_exon:E10 0.285714 108 RFC1:exon_block:E10-E11 0.428571 288 RFC1:boundary_CDS_coverage:after_E5 1.000000 2877 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFC4 ENST00000296273.7 11 8 2 1 2 11 55 RFC4:single_exon:E10 0.363636 114 RFC4:exon_block:E8-E11 0.909091 486 RFC4:boundary_CDS_coverage:after_E4 1.000000 799 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFC5 ENST00000454402.7 1 0 0 0 0 11 55 RFC5:single_exon:E10 0.000000 55 RFC5:exon_block:E9-E10 0.000000 133 RFC5:boundary_CDS_coverage:after_E10 1.000000 94 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFT1 ENST00000296292.8 17 15 4 0 2 13 67 RFT1:single_exon:E9 0.235294 131 RFT1:exon_block:E7-E11 0.529412 512 RFT1:boundary_CDS_coverage:after_E2 0.941176 1474 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFWD3 ENST00000361070.9 3 3 0 0 0 13 67 RFWD3:single_exon:E12 0.333333 212 RFWD3:exon_block:E11-E12 0.666667 427 RFWD3:boundary_CDS_coverage:after_E1 1.000000 2322 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFX3 ENST00000617270.5 12 9 6 0 3 17 91 RFX3:single_exon:E8 0.333333 122 RFX3:exon_block:E5-E8 0.583333 499 RFX3:boundary_CDS_coverage:after_E1 1.000000 2247 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFX5 ENST00000452671.7 51 36 16 0 15 11 55 RFX5:single_exon:E11 0.352941 2539 RFX5:exon_block:E7-E11 0.686275 3044 RFX5:boundary_CDS_coverage:after_E1 1.000000 1848 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFX6 ENST00000332958.3 36 31 8 0 5 19 103 RFX6:single_exon:E17 0.166667 513 RFX6:exon_block:E14-E18 0.388889 1174 RFX6:boundary_CDS_coverage:after_E1 0.972222 2561 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFX7 ENST00000559447.8 16 16 0 0 0 10 49 RFX7:single_exon:E10 0.875000 9341 RFX7:exon_block:E9-E10 0.875000 9637 RFX7:boundary_CDS_coverage:after_E1 1.000000 4380 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFXANK ENST00000303088.9 33 25 15 0 8 10 49 RFXANK:single_exon:E7 0.242424 126 RFXANK:exon_block:E3-E7 0.818182 572 RFXANK:boundary_CDS_coverage:after_E1 1.000000 780 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RFXAP ENST00000255476.3 27 25 2 0 2 3 8 RFXAP:single_exon:E1 0.888889 736 RFXAP:exon_block:E1-E2 1.000000 844 RFXAP:boundary_CDS_coverage:after_E1 0.148148 216 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RGR ENST00000652092.2 2 1 0 1 0 7 31 RGR:single_exon:E7 1.000000 1453 RGR:exon_block:E6-E7 1.000000 1567 RGR:boundary_CDS_coverage:after_E6 1.000000 129 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RGS2 ENST00000235382.7 1 0 1 0 1 5 19 RGS2:single_exon:E3 1.000000 62 RGS2:exon_block:E2-E3 1.000000 164 RGS2:boundary_CDS_coverage:after_E3 1.000000 359 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RGS9 ENST00000262406.10 38 23 20 0 15 19 103 RGS9:single_exon:E13 0.157895 116 RGS9:exon_block:E9-E13 0.394737 394 RGS9:boundary_CDS_coverage:after_E1 0.973684 1965 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RGS9BP ENST00000334176.4 3 3 0 0 0 1 1 RGS9BP:single_exon:E1 1.000000 2453 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RHAG ENST00000371175.10 18 14 6 0 4 10 49 RHAG:single_exon:E2 0.222222 184 RHAG:exon_block:E6-E9 0.500000 405 RHAG:boundary_CDS_coverage:after_E1 1.000000 1070 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RHBDF2 ENST00000675367.1 1 1 1 0 0 19 103 RHBDF2:single_exon:E6 1.000000 204 RHBDF2:exon_block:E6-E7 1.000000 333 RHBDF2:boundary_CDS_coverage:after_E5 1.000000 2013 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RHCE ENST00000294413.13 4 3 1 0 1 10 49 RHCE:single_exon:E7 0.750000 134 RHCE:exon_block:E4-E7 1.000000 587 RHCE:boundary_CDS_coverage:after_E4 1.000000 617 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RHD ENST00000328664.9 1 0 0 0 1 10 49 RHD:single_exon:E9 0.000000 74 RHD:exon_block:E8-E9 0.000000 154 RHD:boundary_CDS_coverage:after_E9 1.000000 24 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RHEB ENST00000262187.10 6 6 2 0 0 8 37 RHEB:single_exon:E2 0.833333 72 RHEB:exon_block:E2-E4 1.000000 223 RHEB:boundary_CDS_coverage:after_E1 1.000000 500 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RHO ENST00000296271.4 198 185 29 2 11 5 19 RHO:single_exon:E1 0.333333 456 RHO:exon_block:E1-E5 1.000000 2768 RHO:boundary_CDS_coverage:after_E1 0.671717 683 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RHOA ENST00000418115.6 4 4 0 0 0 5 19 RHOA:single_exon:E3 0.500000 121 RHOA:exon_block:E2-E3 1.000000 279 RHOA:boundary_CDS_coverage:after_E1 1.000000 579 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RHOBTB2 ENST00000251822.7 15 15 1 0 0 10 49 RHOBTB2:single_exon:E5 0.666667 1019 RHOBTB2:exon_block:E2-E5 1.000000 1511 RHOBTB2:boundary_CDS_coverage:after_E1 1.000000 2181 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIC1 ENST00000414202.7 1 1 0 0 0 26 145 RIC1:single_exon:E19 1.000000 729 RIC1:exon_block:E18-E19 1.000000 849 RIC1:boundary_CDS_coverage:after_E18 1.000000 2157 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIC3 ENST00000309737.11 11 0 0 0 0 6 25 RIC3:single_exon:E3 0.000000 76 RIC3:exon_block:E3-E4 0.000000 170 RIC3:boundary_CDS_coverage:after_E5 1.000000 437 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RICTOR ENST00000357387.8 2 2 0 0 0 38 217 RICTOR:single_exon:E33 0.500000 85 RICTOR:exon_block:E15-E16 0.500000 182 RICTOR:boundary_CDS_coverage:after_E15 1.000000 3825 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIF1 ENST00000444746.7 500 0 0 0 0 36 205 RIF1:single_exon:E23 0.000000 43 RIF1:exon_block:E28-E29 0.000000 136 RIF1:boundary_CDS_coverage:after_E35 1.000000 212 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIGI ENST00000379883.3 5 5 2 0 0 18 97 RIGI:single_exon:E8 0.400000 259 RIGI:exon_block:E7-E11 0.800000 839 RIGI:boundary_CDS_coverage:after_E6 1.000000 1976 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIMS1 ENST00000521978.6 2 0 1 0 2 34 193 RIMS1:single_exon:E16 0.500000 72 RIMS1:exon_block:E15-E16 0.500000 226 RIMS1:boundary_CDS_coverage:after_E6 1.000000 3398 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIMS2 ENST00000696799.1 7 5 3 0 2 30 169 RIMS2:single_exon:E2 0.142857 33 RIMS2:exon_block:E16-E18 0.428571 380 RIMS2:boundary_CDS_coverage:after_E1 1.000000 4645 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIN2 ENST00000255006.12 18 15 4 0 3 13 67 RIN2:single_exon:E5 0.222222 193 RIN2:exon_block:E5-E9 0.555556 1604 RIN2:boundary_CDS_coverage:after_E1 1.000000 2685 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RINT1 ENST00000257700.7 40 27 18 0 13 15 79 RINT1:single_exon:E12 0.150000 215 RINT1:exon_block:E9-E13 0.550000 960 RINT1:boundary_CDS_coverage:after_E2 1.000000 2288 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIPK1 ENST00000259808.9 24 19 5 0 5 11 55 RIPK1:single_exon:E8 0.250000 91 RIPK1:exon_block:E5-E9 0.666667 1117 RIPK1:boundary_CDS_coverage:after_E2 1.000000 1849 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIPK4 ENST00000332512.8 8 8 0 0 0 8 37 RIPK4:single_exon:E5 0.250000 159 RIPK4:exon_block:E5-E7 0.625000 522 RIPK4:boundary_CDS_coverage:after_E1 0.875000 2170 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIPOR2 ENST00000643898.2 2 1 1 0 1 22 121 RIPOR2:single_exon:E3 0.500000 156 RIPOR2:exon_block:E3-E4 0.500000 235 RIPOR2:boundary_CDS_coverage:after_E2 1.000000 2953 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIPPLY2 ENST00000369689.6 1 1 0 0 0 4 13 RIPPLY2:single_exon:E4 1.000000 274 RIPPLY2:exon_block:E3-E4 1.000000 339 RIPPLY2:boundary_CDS_coverage:after_E3 1.000000 145 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RIT1 ENST00000368323.8 38 38 19 0 0 6 25 RIT1:single_exon:E5 0.631579 192 RIT1:exon_block:E2-E5 1.000000 472 RIT1:boundary_CDS_coverage:after_E1 1.000000 657 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RLBP1 ENST00000268125.10 52 41 16 0 10 9 43 RLBP1:single_exon:E5 0.288462 205 RLBP1:exon_block:E4-E8 0.826923 783 RLBP1:boundary_CDS_coverage:after_E1 1.000000 951 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RLIG1 ENST00000356891.4 28 0 0 28 0 7 31 RLIG1:single_exon:E7 1.000000 1927 RLIG1:exon_block:E6-E7 1.000000 2097 RLIG1:boundary_CDS_coverage:after_E6 1.000000 186 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RLIM ENST00000332687.11 12 12 0 0 0 4 13 RLIM:single_exon:E4 1.000000 10086 RLIM:exon_block:E3-E4 1.000000 10170 RLIM:boundary_CDS_coverage:after_E3 1.000000 1619 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RMI1 ENST00000445877.6 1 1 0 0 0 3 8 RMI1:single_exon:E3 1.000000 3124 RMI1:exon_block:E2-E3 1.000000 3213 RMI1:boundary_CDS_coverage:after_E1 1.000000 1875 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RMND1 ENST00000444024.3 52 42 15 2 8 12 61 RMND1:single_exon:E2 0.269231 518 RMND1:exon_block:E2-E6 0.576923 844 RMND1:boundary_CDS_coverage:after_E1 1.000000 1347 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RMND5B ENST00000313386.9 3 0 0 3 0 11 55 RMND5B:single_exon:E11 1.000000 2600 RMND5B:exon_block:E10-E11 1.000000 2755 RMND5B:boundary_CDS_coverage:after_E10 1.000000 61 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RMP64 ENST00000314400.10 1 1 0 0 0 9 43 RMP64:single_exon:E4 1.000000 132 RMP64:exon_block:E4-E5 1.000000 210 RMP64:boundary_CDS_coverage:after_E3 1.000000 1360 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RMRP ENST00000363046.2 302 0 228 0 0 1 1 RMRP:single_exon:E1 0.860927 270 repeat_or_mechanism_complex_replacement_case mechanism_complex limitation_panel repeat/noncoding/mechanism-complex biology limits VCF-based interpretation pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNASE4 ENST00000555835.3 7 0 0 0 7 2 4 RNASE4:single_exon:E1 0.000000 199 RNASE4:exon_block:E1-E2 0.000000 2061 RNASE4:boundary_CDS_coverage:after_E1 1.000000 441 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNASEH1 ENST00000315212.4 6 6 1 0 0 8 37 RNASEH1:single_exon:E4 0.500000 100 RNASEH1:exon_block:E3-E5 1.000000 320 RNASEH1:boundary_CDS_coverage:after_E2 1.000000 614 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNASEH2A ENST00000221486.6 44 33 19 0 11 8 37 RNASEH2A:single_exon:E3 0.227273 124 RNASEH2A:exon_block:E3-E7 0.750000 562 RNASEH2A:boundary_CDS_coverage:after_E1 0.886364 770 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNASEH2B ENST00000336617.8 56 35 28 1 20 11 55 RNASEH2B:single_exon:E2 0.160714 72 RNASEH2B:exon_block:E2-E6 0.553571 446 RNASEH2B:boundary_CDS_coverage:after_E1 0.892857 872 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNASEH2C ENST00000308418.10 7 6 1 1 0 4 13 RNASEH2C:single_exon:E3 0.428571 120 RNASEH2C:exon_block:E1-E4 1.000000 2645 RNASEH2C:boundary_CDS_coverage:after_E1 0.857143 320 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNASEL ENST00000367559.7 3 3 0 0 0 7 31 RNASEL:single_exon:E2 1.000000 1644 RNASEL:exon_block:E2-E3 1.000000 1730 RNASEL:boundary_CDS_coverage:after_E1 1.000000 2223 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNASET2 ENST00000508775.6 11 6 6 0 5 9 43 RNASET2:single_exon:E5 0.363636 71 RNASET2:exon_block:E1-E5 0.818182 700 RNASET2:boundary_CDS_coverage:after_E2 0.909091 621 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF113A ENST00000371442.4 5 5 0 0 0 1 1 RNF113A:single_exon:E1 1.000000 1259 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF125 ENST00000217740.4 2 2 0 0 0 6 25 RNF125:single_exon:E4 0.500000 91 RNF125:exon_block:E3-E4 1.000000 186 RNF125:boundary_CDS_coverage:after_E2 1.000000 378 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF13 ENST00000392894.8 7 7 0 0 0 10 49 RNF13:single_exon:E10 1.000000 1400 RNF13:exon_block:E9-E10 1.000000 1481 RNF13:boundary_CDS_coverage:after_E9 1.000000 362 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF135 ENST00000328381.10 1 1 0 0 0 5 19 RNF135:single_exon:E5 1.000000 1250 RNF135:exon_block:E4-E5 1.000000 1340 RNF135:boundary_CDS_coverage:after_E4 1.000000 527 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF14 ENST00000394520.7 31 0 0 0 0 9 43 RNF14:single_exon:E1 0.000000 63 RNF14:exon_block:E1-E2 0.000000 237 RNF14:boundary_CDS_coverage:after_E8 0.000000 55 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF157 ENST00000269391.11 1 0 0 0 1 19 103 RNF157:single_exon:E7 0.000000 44 RNF157:exon_block:E7-E8 0.000000 92 RNF157:boundary_CDS_coverage:after_E2 1.000000 1830 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF168 ENST00000318037.3 35 33 5 0 2 6 25 RNF168:single_exon:E6 0.285714 3990 RNF168:exon_block:E2-E6 0.857143 4451 RNF168:boundary_CDS_coverage:after_E1 0.857143 1412 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF17 ENST00000255324.10 22 0 0 0 0 36 204 RNF17:single_exon:E30 0.000000 60 RNF17:exon_block:E8-E9 0.000000 152 RNF17:boundary_CDS_coverage:after_E34 1.000000 96 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF170 ENST00000527424.6 6 5 2 0 1 7 31 RNF170:single_exon:E5 0.333333 74 RNF170:exon_block:E3-E7 1.000000 3498 RNF170:boundary_CDS_coverage:after_E2 1.000000 637 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF2 ENST00000367510.8 1 1 1 0 0 7 31 RNF2:single_exon:E3 1.000000 161 RNF2:exon_block:E2-E3 1.000000 250 RNF2:boundary_CDS_coverage:after_E2 1.000000 921 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF207 ENST00000377939.5 1 0 1 0 1 18 97 RNF207:single_exon:E12 1.000000 98 RNF207:exon_block:E11-E12 1.000000 167 RNF207:boundary_CDS_coverage:after_E12 1.000000 793 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF212B ENST00000430154.7 1 1 0 0 0 15 79 RNF212B:single_exon:E8 1.000000 47 RNF212B:exon_block:E7-E8 1.000000 76 RNF212B:boundary_CDS_coverage:after_E7 1.000000 466 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF213 ENST00000582970.6 22 21 2 0 1 68 397 RNF213:single_exon:E44 0.363636 183 RNF213:exon_block:E44-E48 0.772727 779 RNF213:boundary_CDS_coverage:after_E2 1.000000 15524 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF216 ENST00000389902.8 23 20 6 0 3 17 91 RNF216:single_exon:E4 0.347826 843 RNF216:exon_block:E9-E13 0.478261 557 RNF216:boundary_CDS_coverage:after_E3 1.000000 2568 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF220 ENST00000361799.7 2 2 0 0 0 15 79 RNF220:single_exon:E8 1.000000 133 RNF220:exon_block:E7-E8 1.000000 177 RNF220:boundary_CDS_coverage:after_E7 1.000000 705 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF31 ENST00000324103.11 3 3 1 0 0 21 115 RNF31:single_exon:E13 0.333333 99 RNF31:exon_block:E13-E14 0.333333 189 RNF31:boundary_CDS_coverage:after_E1 1.000000 3024 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF43 ENST00000407977.7 33 28 7 0 5 10 49 RNF43:single_exon:E9 0.636364 1356 RNF43:exon_block:E5-E9 0.787879 1858 RNF43:boundary_CDS_coverage:after_E1 1.000000 2349 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNF6 ENST00000381588.9 3 3 0 0 0 5 19 RNF6:single_exon:E5 1.000000 2818 RNF6:exon_block:E4-E5 1.000000 2914 RNF6:boundary_CDS_coverage:after_E4 1.000000 1766 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNPC3 ENST00000423855.7 11 9 4 0 2 15 78 RNPC3:single_exon:E13 0.272727 133 RNPC3:exon_block:E11-E14 0.454545 359 RNPC3:boundary_CDS_coverage:after_E2 1.000000 1311 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU12 ENST00000362512.1 8 0 2 0 0 1 1 RNU12:single_exon:E1 1.000000 150 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU2-2 ENST00000410396.1 24 0 7 0 0 1 1 RNU2-2:single_exon:E1 1.000000 191 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU4-1 ENST00000363925.2 1 0 0 0 0 1 1 RNU4-1:single_exon:E1 0.000000 145 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU4-2 ENST00000365668.2 30 0 3 0 0 1 1 RNU4-2:single_exon:E1 1.000000 145 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU4ATAC ENST00000580972.2 28 0 5 0 0 1 1 RNU4ATAC:single_exon:E1 1.000000 130 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU5B-1 ENST00000363286.2 2 0 0 0 0 1 1 RNU5B-1:single_exon:E1 1.000000 117 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU6-1 ENST00000383898.1 1 0 0 0 0 1 1 RNU6-1:single_exon:E1 1.000000 107 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU6-8 ENST00000365467.1 1 0 0 0 0 1 1 RNU6-8:single_exon:E1 1.000000 107 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU6-9 ENST00000384776.1 1 0 0 0 0 1 1 RNU6-9:single_exon:E1 1.000000 107 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RNU7-1 ENST00000458811.1 5 0 0 0 0 1 1 RNU7-1:single_exon:E1 1.000000 63 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ROBO1 ENST00000464233.6 44 34 14 0 10 31 175 ROBO1:single_exon:E11 0.090909 206 ROBO1:exon_block:E7-E11 0.295455 770 ROBO1:boundary_CDS_coverage:after_E3 1.000000 4781 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ROBO3 ENST00000397801.6 41 38 8 0 3 28 157 ROBO3:single_exon:E2 0.146341 327 ROBO3:exon_block:E2-E6 0.341463 873 ROBO3:boundary_CDS_coverage:after_E1 0.975610 3998 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ROBO4 ENST00000306534.8 15 13 3 0 2 18 97 ROBO4:single_exon:E13 0.133333 108 ROBO4:exon_block:E4-E8 0.533333 760 ROBO4:boundary_CDS_coverage:after_E1 1.000000 2951 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ROGDI ENST00000322048.12 48 29 26 0 19 11 55 ROGDI:single_exon:E2 0.145833 72 ROGDI:exon_block:E2-E6 0.583333 387 ROGDI:boundary_CDS_coverage:after_E1 1.000000 816 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ROR2 ENST00000375708.4 64 60 6 0 4 9 43 ROR2:single_exon:E9 0.375000 2507 ROR2:exon_block:E5-E9 0.828125 3399 ROR2:boundary_CDS_coverage:after_E1 0.953125 2732 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RORA ENST00000335670.11 43 36 14 0 7 11 55 RORA:single_exon:E5 0.209302 396 RORA:exon_block:E3-E7 0.767442 879 RORA:boundary_CDS_coverage:after_E1 1.000000 1403 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RORB ENST00000376896.8 60 51 19 0 9 10 49 RORB:single_exon:E4 0.250000 402 RORB:exon_block:E2-E6 0.683333 885 RORB:boundary_CDS_coverage:after_E1 0.933333 1370 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RORC ENST00000318247.7 12 11 4 0 1 11 55 RORC:single_exon:E7 0.333333 133 RORC:exon_block:E3-E7 0.833333 996 RORC:boundary_CDS_coverage:after_E2 1.000000 1484 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ROS1 ENST00000368507.8 5 5 0 0 0 44 253 ROS1:single_exon:E23 0.200000 64 ROS1:exon_block:E23-E24 0.400000 267 ROS1:boundary_CDS_coverage:after_E22 1.000000 3657 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RP1 ENST00000220676.2 334 324 11 0 8 4 13 RP1:single_exon:E4 0.838323 6165 RP1:exon_block:E2-E4 0.994012 6964 RP1:boundary_CDS_coverage:after_E1 1.000000 6468 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RP1L1 ENST00000382483.4 46 46 1 0 0 4 13 RP1L1:single_exon:E4 0.826087 6998 RP1L1:exon_block:E2-E4 1.000000 7768 RP1L1:boundary_CDS_coverage:after_E1 1.000000 7200 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RP2 ENST00000218340.4 175 153 29 2 20 5 19 RP2:single_exon:E2 0.582857 666 RP2:exon_block:E1-E4 0.988571 1027 RP2:boundary_CDS_coverage:after_E1 0.851429 948 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RP9 ENST00000297157.8 2 2 0 0 0 6 25 RP9:single_exon:E1 0.500000 184 RP9:exon_block:E1-E2 0.500000 215 RP9:boundary_CDS_coverage:after_E5 0.500000 196 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPA1 ENST00000254719.10 2 2 1 0 0 17 91 RPA1:single_exon:E9 0.500000 69 RPA1:exon_block:E8-E9 1.000000 172 RPA1:boundary_CDS_coverage:after_E7 1.000000 1261 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPE65 ENST00000262340.6 327 269 116 0 58 14 73 RPE65:single_exon:E3 0.100917 151 RPE65:exon_block:E3-E7 0.406728 631 RPE65:boundary_CDS_coverage:after_E1 0.990826 1588 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPGR ENST00000645032.1 790 709 103 2 73 15 79 RPGR:single_exon:E15 0.588608 2838 RPGR:exon_block:E11-E15 0.678481 3346 RPGR:boundary_CDS_coverage:after_E1 0.996203 3428 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPGRIP1 ENST00000400017.7 176 135 53 0 41 25 139 RPGRIP1:single_exon:E15 0.102273 453 RPGRIP1:exon_block:E15-E19 0.375000 1337 RPGRIP1:boundary_CDS_coverage:after_E1 1.000000 3858 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPGRIP1L ENST00000647211.2 336 271 103 0 65 27 151 RPGRIP1L:single_exon:E15 0.122024 453 RPGRIP1L:exon_block:E13-E17 0.351190 1282 RPGRIP1L:boundary_CDS_coverage:after_E1 1.000000 3945 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPH3A ENST00000389385.9 1 1 0 0 0 22 121 RPH3A:single_exon:E10 1.000000 147 RPH3A:exon_block:E9-E10 1.000000 186 RPH3A:boundary_CDS_coverage:after_E9 1.000000 1433 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPIA ENST00000283646.5 10 9 2 0 1 9 43 RPIA:single_exon:E1 0.300000 311 RPIA:exon_block:E4-E8 0.600000 436 RPIA:boundary_CDS_coverage:after_E2 0.700000 587 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL10 ENST00000369817.7 9 9 2 0 0 7 31 RPL10:single_exon:E5 0.333333 139 RPL10:exon_block:E2-E6 0.888889 515 RPL10:boundary_CDS_coverage:after_E1 1.000000 642 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL10L ENST00000298283.5 1 1 0 0 0 1 1 RPL10L:single_exon:E1 1.000000 772 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL11 ENST00000643754.2 45 33 17 0 12 6 25 RPL11:single_exon:E2 0.444444 151 RPL11:exon_block:E2-E6 0.977778 993 RPL11:boundary_CDS_coverage:after_E1 1.000000 528 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL13 ENST00000311528.10 10 5 4 0 4 6 25 RPL13:single_exon:E6 0.600000 1659 RPL13:exon_block:E5-E6 0.900000 1716 RPL13:boundary_CDS_coverage:after_E5 0.900000 156 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL15 ENST00000307839.10 12 10 4 0 2 4 13 RPL15:single_exon:E2 0.333333 182 RPL15:exon_block:E2-E4 0.916667 2113 RPL15:boundary_CDS_coverage:after_E1 1.000000 612 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL17 ENST00000580261.6 2 1 1 0 1 7 31 RPL17:single_exon:E5 0.500000 99 RPL17:exon_block:E5-E6 1.000000 291 RPL17:boundary_CDS_coverage:after_E4 1.000000 336 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL18 ENST00000549920.6 1 1 0 0 0 7 31 RPL18:single_exon:E3 1.000000 108 RPL18:exon_block:E2-E3 1.000000 195 RPL18:boundary_CDS_coverage:after_E2 1.000000 474 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL21 ENST00000311549.11 1 1 0 0 0 6 25 RPL21:single_exon:E3 1.000000 62 RPL21:exon_block:E2-E3 1.000000 141 RPL21:boundary_CDS_coverage:after_E2 1.000000 413 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL26 ENST00000648839.1 5 3 1 0 2 4 13 RPL26:single_exon:E2 0.800000 173 RPL26:exon_block:E1-E2 0.800000 210 RPL26:boundary_CDS_coverage:after_E1 1.000000 435 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL27 ENST00000253788.12 1 0 1 0 1 5 19 RPL27:single_exon:E2 1.000000 83 RPL27:exon_block:E1-E2 1.000000 136 RPL27:boundary_CDS_coverage:after_E1 1.000000 408 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL31 ENST00000264258.8 1 0 0 1 0 5 19 RPL31:single_exon:E5 1.000000 918 RPL31:exon_block:E4-E5 1.000000 1031 RPL31:boundary_CDS_coverage:after_E4 1.000000 29 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL35 ENST00000348462.6 1 1 1 0 0 4 13 RPL35:single_exon:E4 1.000000 185 RPL35:exon_block:E3-E4 1.000000 267 RPL35:boundary_CDS_coverage:after_E3 1.000000 147 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL35A ENST00000647248.2 11 8 3 0 3 5 19 RPL35A:single_exon:E3 0.545455 153 RPL35A:exon_block:E3-E4 0.909091 298 RPL35A:boundary_CDS_coverage:after_E2 1.000000 319 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL3L ENST00000268661.8 6 6 0 0 0 10 49 RPL3L:single_exon:E8 0.166667 96 RPL3L:exon_block:E5-E9 0.666667 666 RPL3L:boundary_CDS_coverage:after_E2 1.000000 1025 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPL5 ENST00000370321.8 89 71 33 0 18 8 37 RPL5:single_exon:E3 0.314607 116 RPL5:exon_block:E2-E6 0.910112 702 RPL5:boundary_CDS_coverage:after_E1 0.966292 888 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS10 ENST00000648437.1 10 7 5 0 3 6 25 RPS10:single_exon:E3 0.400000 172 RPS10:exon_block:E2-E5 1.000000 456 RPS10:boundary_CDS_coverage:after_E1 1.000000 495 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS15A ENST00000322989.8 1 1 1 0 0 5 19 RPS15A:single_exon:E3 1.000000 80 RPS15A:exon_block:E3-E4 1.000000 166 RPS15A:boundary_CDS_coverage:after_E3 1.000000 177 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS17 ENST00000647841.1 6 5 4 0 1 5 19 RPS17:single_exon:E3 0.500000 106 RPS17:exon_block:E1-E3 1.000000 290 RPS17:boundary_CDS_coverage:after_E1 0.666667 402 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS19 ENST00000598742.6 81 69 35 0 12 6 25 RPS19:single_exon:E4 0.320988 184 RPS19:exon_block:E2-E6 1.000000 1986 RPS19:boundary_CDS_coverage:after_E1 1.000000 435 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS20 ENST00000009589.8 7 5 2 0 2 4 13 RPS20:single_exon:E4 0.428571 219 RPS20:exon_block:E1-E4 1.000000 519 RPS20:boundary_CDS_coverage:after_E1 1.000000 354 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS23 ENST00000296674.13 2 2 0 0 0 4 13 RPS23:single_exon:E3 0.500000 121 RPS23:exon_block:E3-E4 1.000000 3057 RPS23:boundary_CDS_coverage:after_E2 1.000000 265 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS24 ENST00000372360.9 17 14 10 0 2 6 23 RPS24:single_exon:E2 0.352941 66 RPS24:exon_block:E1-E4 0.941176 429 RPS24:boundary_CDS_coverage:after_E1 0.823529 387 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS26 ENST00000646449.2 33 23 19 0 10 4 13 RPS26:single_exon:E2 0.454545 178 RPS26:exon_block:E1-E4 1.000000 1140 RPS26:boundary_CDS_coverage:after_E1 0.818182 342 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS27 ENST00000651669.1 1 1 0 0 0 4 13 RPS27:single_exon:E2 1.000000 109 RPS27:exon_block:E1-E2 1.000000 150 RPS27:boundary_CDS_coverage:after_E1 1.000000 246 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS29 ENST00000245458.11 4 3 2 0 1 3 8 RPS29:single_exon:E2 1.000000 100 RPS29:exon_block:E1-E2 1.000000 196 RPS29:boundary_CDS_coverage:after_E1 1.000000 106 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS6KA3 ENST00000379565.9 160 128 57 0 32 22 121 RPS6KA3:single_exon:E9 0.137500 143 RPS6KA3:exon_block:E6-E10 0.331250 439 RPS6KA3:boundary_CDS_coverage:after_E2 1.000000 2094 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS6KC1 ENST00000366960.8 6 6 1 0 0 15 79 RPS6KC1:single_exon:E11 0.666667 1596 RPS6KC1:exon_block:E11-E12 0.833333 1686 RPS6KC1:boundary_CDS_coverage:after_E6 1.000000 2363 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPS7 ENST00000645674.2 12 3 10 0 9 7 31 RPS7:single_exon:E2 0.416667 93 RPS7:exon_block:E1-E3 0.833333 256 RPS7:boundary_CDS_coverage:after_E1 1.000000 582 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPSA ENST00000301821.11 9 9 1 0 0 7 31 RPSA:single_exon:E5 0.444444 129 RPSA:exon_block:E2-E6 1.000000 826 RPSA:boundary_CDS_coverage:after_E1 1.000000 885 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RPUSD3 ENST00000383820.10 2 2 0 0 0 9 43 RPUSD3:single_exon:E7 0.500000 124 RPUSD3:exon_block:E7-E8 1.000000 264 RPUSD3:boundary_CDS_coverage:after_E6 1.000000 453 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RRAGC ENST00000373001.4 4 4 0 0 0 7 31 RRAGC:single_exon:E2 0.750000 204 RRAGC:exon_block:E1-E2 1.000000 567 RRAGC:boundary_CDS_coverage:after_E1 0.750000 960 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RRAGD ENST00000369415.9 8 8 0 0 0 7 31 RRAGD:single_exon:E2 1.000000 296 RRAGD:exon_block:E2-E3 1.000000 496 RRAGD:boundary_CDS_coverage:after_E1 1.000000 1052 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RRAS ENST00000246792.4 1 1 0 0 0 6 25 RRAS:single_exon:E1 1.000000 198 RRAS:exon_block:E1-E2 1.000000 286 RRAS:boundary_CDS_coverage:after_E5 0.000000 82 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RRAS2 ENST00000256196.9 11 11 0 0 0 6 25 RRAS2:single_exon:E1 0.727273 421 RRAS2:exon_block:E1-E3 1.000000 612 RRAS2:boundary_CDS_coverage:after_E2 0.272727 416 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RREB1 ENST00000379938.7 2 2 0 0 0 13 67 RREB1:single_exon:E9 0.500000 190 RREB1:exon_block:E9-E10 1.000000 3101 RREB1:boundary_CDS_coverage:after_E8 1.000000 4519 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RRM1 ENST00000300738.10 2 2 0 0 0 19 103 RRM1:single_exon:E12 1.000000 202 RRM1:exon_block:E11-E12 1.000000 282 RRM1:boundary_CDS_coverage:after_E11 1.000000 1258 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RRM2B ENST00000251810.8 44 35 14 0 9 9 43 RRM2B:single_exon:E2 0.204545 156 RRM2B:exon_block:E2-E6 0.681818 636 RRM2B:boundary_CDS_coverage:after_E1 0.977273 1005 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RRP12 ENST00000370992.9 2 2 1 0 0 34 193 RRP12:single_exon:E23 0.500000 106 RRP12:exon_block:E22-E23 0.500000 187 RRP12:boundary_CDS_coverage:after_E12 1.000000 2473 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RRP7A ENST00000323013.7 1 1 1 0 0 7 31 RRP7A:single_exon:E5 1.000000 98 RRP7A:exon_block:E4-E5 1.000000 216 RRP7A:boundary_CDS_coverage:after_E4 1.000000 380 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RS1 ENST00000379984.4 296 260 73 0 36 6 25 RS1:single_exon:E6 0.290541 2469 RS1:exon_block:E2-E6 0.939189 2939 RS1:boundary_CDS_coverage:after_E1 0.976351 620 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSPH1 ENST00000291536.8 27 20 8 0 7 9 43 RSPH1:single_exon:E4 0.222222 91 RSPH1:exon_block:E3-E7 0.740741 559 RSPH1:boundary_CDS_coverage:after_E1 0.925926 873 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSPH3 ENST00000367069.7 29 11 6 13 5 8 37 RSPH3:single_exon:E1 0.448276 768 RSPH3:exon_block:E1-E5 0.827586 1348 RSPH3:boundary_CDS_coverage:after_E1 0.551724 1138 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSPH4A ENST00000229554.10 57 52 8 0 5 6 25 RSPH4A:single_exon:E3 0.368421 741 RSPH4A:exon_block:E1-E5 0.929825 2061 RSPH4A:boundary_CDS_coverage:after_E1 0.719298 1462 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSPH9 ENST00000372163.5 21 17 5 0 4 5 19 RSPH9:single_exon:E2 0.380952 166 RSPH9:exon_block:E1-E5 1.000000 2545 RSPH9:boundary_CDS_coverage:after_E1 0.666667 601 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSPO1 ENST00000356545.7 6 4 1 0 2 7 31 RSPO1:single_exon:E4 0.500000 192 RSPO1:exon_block:E4-E7 0.833333 2103 RSPO1:boundary_CDS_coverage:after_E3 1.000000 695 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSPO2 ENST00000276659.10 5 4 1 0 1 6 25 RSPO2:single_exon:E3 0.800000 189 RSPO2:exon_block:E3-E4 1.000000 333 RSPO2:boundary_CDS_coverage:after_E2 1.000000 635 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSPO4 ENST00000217260.9 12 10 2 0 2 5 19 RSPO4:single_exon:E2 0.416667 189 RSPO4:exon_block:E1-E3 1.000000 556 RSPO4:boundary_CDS_coverage:after_E1 0.916667 623 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSPRY1 ENST00000394420.9 6 6 3 0 0 15 79 RSPRY1:single_exon:E2 0.333333 505 RSPRY1:exon_block:E2-E3 0.500000 558 RSPRY1:boundary_CDS_coverage:after_E1 1.000000 1728 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSRC1 ENST00000611884.5 11 7 8 0 4 10 49 RSRC1:single_exon:E2 0.272727 196 RSRC1:exon_block:E2-E6 0.909091 585 RSRC1:boundary_CDS_coverage:after_E1 1.000000 1002 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSRC2 ENST00000331738.12 1 1 0 0 0 10 49 RSRC2:single_exon:E5 1.000000 204 RSRC2:exon_block:E5-E6 1.000000 327 RSRC2:boundary_CDS_coverage:after_E4 1.000000 904 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RSRP1 ENST00000243189.12 1 0 0 0 0 5 19 RSRP1:single_exon:E4 0.000000 84 RSRP1:exon_block:E3-E4 0.000000 236 RSRP1:boundary_CDS_coverage:after_E4 0.000000 114 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RTEL1 ENST00000360203.11 284 206 104 0 78 35 199 RTEL1:single_exon:E29 0.091549 199 RTEL1:exon_block:E29-E33 0.309859 847 RTEL1:boundary_CDS_coverage:after_E1 1.000000 3900 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RTN2 ENST00000245923.9 15 13 4 0 2 11 55 RTN2:single_exon:E3 0.400000 480 RTN2:exon_block:E2-E6 0.866667 1207 RTN2:boundary_CDS_coverage:after_E1 1.000000 1601 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RTN4IP1 ENST00000369063.8 34 26 13 0 7 9 43 RTN4IP1:single_exon:E7 0.205882 184 RTN4IP1:exon_block:E4-E8 0.617647 588 RTN4IP1:boundary_CDS_coverage:after_E1 0.852941 914 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RTTN ENST00000640769.2 82 61 33 0 21 49 283 RTTN:single_exon:E23 0.073171 69 RTTN:exon_block:E23-E27 0.195122 798 RTTN:boundary_CDS_coverage:after_E1 1.000000 6647 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RUBCN ENST00000296343.10 5 2 3 0 3 20 109 RUBCN:single_exon:E12 0.200000 61 RUBCN:exon_block:E9-E12 0.600000 490 RUBCN:boundary_CDS_coverage:after_E8 1.000000 1559 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RUNX1 ENST00000675419.1 229 206 48 0 23 9 43 RUNX1:single_exon:E4 0.235808 254 RUNX1:exon_block:E4-E8 0.777293 870 RUNX1:boundary_CDS_coverage:after_E3 1.000000 1343 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RUNX1T1 ENST00000523629.7 2 2 0 0 0 12 61 RUNX1T1:single_exon:E3 0.500000 138 RUNX1T1:exon_block:E3-E4 1.000000 380 RUNX1T1:boundary_CDS_coverage:after_E2 1.000000 1724 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RUNX2 ENST00000647337.2 166 145 36 1 20 9 43 RUNX2:single_exon:E3 0.307229 365 RUNX2:exon_block:E3-E7 0.801205 963 RUNX2:boundary_CDS_coverage:after_E1 1.000000 1563 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RUSC2 ENST00000361226.8 40 37 7 0 3 12 61 RUSC2:single_exon:E10 0.350000 823 RUSC2:exon_block:E2-E6 0.525000 3152 RUSC2:boundary_CDS_coverage:after_E1 1.000000 4548 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RUSF1 ENST00000327237.7 3 0 0 3 0 13 67 RUSF1:single_exon:E13 1.000000 1458 RUSF1:exon_block:E12-E13 1.000000 1536 RUSF1:boundary_CDS_coverage:after_E12 1.000000 95 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RUVBL1 ENST00000322623.10 4 0 0 0 0 11 55 RUVBL1:single_exon:E7 0.000000 64 RUVBL1:exon_block:E9-E10 0.000000 195 RUVBL1:boundary_CDS_coverage:after_E10 0.750000 157 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RXFP2 ENST00000298386.7 2 2 0 0 0 18 97 RXFP2:single_exon:E13 0.500000 72 RXFP2:exon_block:E13-E16 1.000000 785 RXFP2:boundary_CDS_coverage:after_E12 1.000000 1261 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RXRA ENST00000481739.2 1 1 0 0 0 10 49 RXRA:single_exon:E5 1.000000 170 RXRA:exon_block:E5-E6 1.000000 300 RXRA:boundary_CDS_coverage:after_E4 1.000000 776 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RXYLT1 ENST00000261234.11 56 47 10 0 9 6 25 RXYLT1:single_exon:E4 0.285714 315 RXYLT1:exon_block:E2-E6 0.839286 1633 RXYLT1:boundary_CDS_coverage:after_E1 0.875000 1160 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RYR1 ENST00000359596.8 770 640 208 0 130 106 625 RYR1:single_exon:E91 0.066234 813 RYR1:exon_block:E91-E95 0.131169 1374 RYR1:boundary_CDS_coverage:after_E1 0.998701 15069 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RYR2 ENST00000366574.7 254 252 34 0 2 105 619 RYR2:single_exon:E90 0.204724 1298 RYR2:exon_block:E86-E90 0.295276 1703 RYR2:boundary_CDS_coverage:after_E1 0.992126 14853 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true RYR3 ENST00000634891.2 1 1 1 0 0 104 613 RYR3:single_exon:E40 1.000000 115 RYR3:exon_block:E40-E41 1.000000 245 RYR3:boundary_CDS_coverage:after_E39 1.000000 8476 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true S100PBP ENST00000373475.10 1 0 0 0 0 7 31 S100PBP:single_exon:E1 0.000000 37 S100PBP:exon_block:E1-E2 0.000000 154 S100PBP:boundary_CDS_coverage:after_E6 0.000000 112 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true S1PR2 ENST00000646641.1 2 2 0 0 0 2 4 S1PR2:single_exon:E2 1.000000 3515 S1PR2:exon_block:E1-E2 1.000000 3643 S1PR2:boundary_CDS_coverage:after_E1 1.000000 1059 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SACS ENST00000382292.9 990 973 32 0 17 10 49 SACS:single_exon:E10 0.810101 12861 SACS:exon_block:E6-E10 0.967677 14701 SACS:boundary_CDS_coverage:after_E1 1.000000 13737 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAG ENST00000409110.6 38 16 27 0 22 16 85 SAG:single_exon:E9 0.157895 85 SAG:exon_block:E7-E11 0.526316 509 SAG:boundary_CDS_coverage:after_E1 1.000000 1215 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SALL1 ENST00000251020.9 122 120 2 0 2 3 8 SALL1:single_exon:E2 0.983607 3458 SALL1:exon_block:E1-E3 1.000000 5134 SALL1:boundary_CDS_coverage:after_E1 1.000000 3896 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SALL2 ENST00000537235.2 1 1 0 0 0 2 4 SALL2:single_exon:E2 1.000000 4575 SALL2:exon_block:E1-E2 1.000000 4861 SALL2:boundary_CDS_coverage:after_E1 1.000000 2948 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SALL4 ENST00000217086.9 54 52 3 0 2 4 13 SALL4:single_exon:E2 0.833333 2331 SALL4:exon_block:E2-E4 1.000000 4966 SALL4:boundary_CDS_coverage:after_E1 1.000000 3029 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAMD11 ENST00000616016.5 1 1 0 0 0 14 73 SAMD11:single_exon:E14 1.000000 667 SAMD11:exon_block:E13-E14 1.000000 778 SAMD11:boundary_CDS_coverage:after_E13 1.000000 243 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAMD7 ENST00000335556.7 5 2 4 0 3 9 43 SAMD7:single_exon:E5 0.200000 79 SAMD7:exon_block:E4-E7 0.800000 955 SAMD7:boundary_CDS_coverage:after_E4 1.000000 1127 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAMD8 ENST00000542569.6 2 2 0 0 0 6 25 SAMD8:single_exon:E3 1.000000 96 SAMD8:exon_block:E3-E4 1.000000 214 SAMD8:boundary_CDS_coverage:after_E2 1.000000 667 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAMD9 ENST00000379958.3 34 34 0 0 0 3 8 SAMD9:single_exon:E3 1.000000 6588 SAMD9:exon_block:E2-E3 1.000000 6689 SAMD9:boundary_CDS_coverage:after_E1 1.000000 4767 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAMD9L ENST00000318238.9 19 19 0 0 0 5 19 SAMD9L:single_exon:E5 1.000000 5936 SAMD9L:exon_block:E4-E5 1.000000 6038 SAMD9L:boundary_CDS_coverage:after_E1 1.000000 4752 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAMHD1 ENST00000646673.2 132 104 45 0 28 16 85 SAMHD1:single_exon:E4 0.136364 161 SAMHD1:exon_block:E4-E8 0.462121 605 SAMHD1:boundary_CDS_coverage:after_E1 0.924242 1670 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAP130 ENST00000643581.2 1 1 0 0 0 21 115 SAP130:single_exon:E3 1.000000 236 SAP130:exon_block:E2-E3 1.000000 354 SAP130:boundary_CDS_coverage:after_E2 1.000000 3059 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SAR1B ENST00000402673.7 24 21 5 0 3 7 31 SAR1B:single_exon:E4 0.250000 66 SAR1B:exon_block:E3-E7 0.958333 6340 SAR1B:boundary_CDS_coverage:after_E1 1.000000 594 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SARDH ENST00000439388.6 2 2 0 0 0 21 115 SARDH:single_exon:E10 0.500000 91 SARDH:exon_block:E10-E13 1.000000 431 SARDH:boundary_CDS_coverage:after_E9 1.000000 1517 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SARM1 ENST00000585482.6 7 0 0 7 0 9 43 SARM1:single_exon:E9 1.000000 7893 SARM1:exon_block:E8-E9 1.000000 8015 SARM1:boundary_CDS_coverage:after_E8 1.000000 127 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SARS1 ENST00000234677.7 3 2 2 0 1 11 55 SARS1:single_exon:E8 0.333333 130 SARS1:exon_block:E4-E8 0.666667 811 SARS1:boundary_CDS_coverage:after_E4 1.000000 1095 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SARS2 ENST00000221431.11 5 3 5 0 2 16 85 SARS2:single_exon:E5 0.200000 55 SARS2:exon_block:E11-E15 0.800000 451 SARS2:boundary_CDS_coverage:after_E5 1.000000 965 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SART3 ENST00000546815.6 8 8 1 0 0 19 103 SART3:single_exon:E12 0.250000 110 SART3:exon_block:E12-E16 0.500000 924 SART3:boundary_CDS_coverage:after_E3 1.000000 2345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SASH1 ENST00000367467.8 14 14 2 0 0 20 109 SASH1:single_exon:E13 0.500000 136 SASH1:exon_block:E13-E15 1.000000 516 SASH1:boundary_CDS_coverage:after_E12 1.000000 2313 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SASH3 ENST00000356892.4 4 4 0 0 0 8 37 SASH3:single_exon:E5 0.250000 149 SASH3:exon_block:E5-E8 1.000000 2070 SASH3:boundary_CDS_coverage:after_E4 1.000000 698 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SASS6 ENST00000287482.6 7 5 1 0 2 17 91 SASS6:single_exon:E3 0.428571 80 SASS6:exon_block:E3-E6 0.571429 423 SASS6:boundary_CDS_coverage:after_E2 1.000000 1845 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SATB1 ENST00000338745.11 35 34 5 0 1 11 55 SATB1:single_exon:E11 0.257143 4306 SATB1:exon_block:E7-E11 0.857143 5334 SATB1:boundary_CDS_coverage:after_E1 1.000000 2289 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SATB2 ENST00000417098.6 196 176 44 0 19 11 55 SATB2:single_exon:E7 0.198980 473 SATB2:exon_block:E7-E11 0.653061 4208 SATB2:boundary_CDS_coverage:after_E1 0.994898 2199 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SBDS ENST00000246868.7 48 36 16 0 12 5 19 SBDS:single_exon:E1 0.291667 297 SBDS:exon_block:E1-E5 0.979167 1613 SBDS:boundary_CDS_coverage:after_E1 0.729167 622 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SBF1 ENST00000380817.8 37 28 14 0 9 41 235 SBF1:single_exon:E25 0.135135 137 SBF1:exon_block:E23-E27 0.351351 849 SBF1:boundary_CDS_coverage:after_E2 1.000000 5538 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SBF2 ENST00000256190.13 88 62 32 0 26 40 229 SBF2:single_exon:E32 0.068182 186 SBF2:exon_block:E32-E36 0.170455 780 SBF2:boundary_CDS_coverage:after_E1 0.988636 5492 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SC5D ENST00000264027.9 5 5 0 0 0 5 19 SC5D:single_exon:E5 0.600000 6354 SC5D:exon_block:E2-E5 1.000000 6808 SC5D:boundary_CDS_coverage:after_E1 1.000000 897 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCAF4 ENST00000286835.12 42 32 10 0 8 20 109 SCAF4:single_exon:E12 0.261905 191 SCAF4:exon_block:E12-E16 0.476190 721 SCAF4:boundary_CDS_coverage:after_E1 1.000000 3411 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCAMP4 ENST00000316097.13 5 0 0 0 5 7 31 SCAMP4:single_exon:E1 0.000000 41 SCAMP4:exon_block:E1-E2 0.000000 89 SCAMP4:boundary_CDS_coverage:after_E1 1.000000 687 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCAPER ENST00000563290.6 27 22 10 0 5 32 181 SCAPER:single_exon:E18 0.111111 82 SCAPER:exon_block:E18-E22 0.333333 546 SCAPER:boundary_CDS_coverage:after_E3 1.000000 4076 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCARB1 ENST00000261693.11 1 0 1 0 1 13 66 SCARB1:single_exon:E6 1.000000 116 SCARB1:exon_block:E5-E6 1.000000 212 SCARB1:boundary_CDS_coverage:after_E5 1.000000 801 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCARB2 ENST00000264896.8 36 24 14 0 12 12 61 SCARB2:single_exon:E11 0.194444 159 SCARB2:exon_block:E7-E11 0.611111 574 SCARB2:boundary_CDS_coverage:after_E1 0.944444 1317 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCARF2 ENST00000622235.5 13 13 0 0 0 11 55 SCARF2:single_exon:E4 0.307692 520 SCARF2:exon_block:E1-E5 0.769231 1144 SCARF2:boundary_CDS_coverage:after_E1 0.769231 2425 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCD5 ENST00000319540.9 1 1 0 0 0 5 19 SCD5:single_exon:E4 1.000000 233 SCD5:exon_block:E3-E4 1.000000 439 SCD5:boundary_CDS_coverage:after_E3 1.000000 421 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCEL ENST00000349847.4 1 1 0 0 0 33 187 SCEL:single_exon:E4 1.000000 60 SCEL:exon_block:E4-E5 1.000000 129 SCEL:boundary_CDS_coverage:after_E3 1.000000 1903 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCFD2 ENST00000401642.8 1 1 0 0 0 9 43 SCFD2:single_exon:E4 1.000000 176 SCFD2:exon_block:E3-E4 1.000000 304 SCFD2:boundary_CDS_coverage:after_E3 1.000000 917 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCHIP1 ENST00000638749.2 1 1 0 0 0 8 37 SCHIP1:single_exon:E7 1.000000 94 SCHIP1:exon_block:E6-E7 1.000000 218 SCHIP1:boundary_CDS_coverage:after_E6 1.000000 143 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCLT1 ENST00000281142.10 52 36 24 0 16 21 115 SCLT1:single_exon:E9 0.115385 71 SCLT1:exon_block:E11-E15 0.346154 516 SCLT1:boundary_CDS_coverage:after_E1 0.980769 2030 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN10A ENST00000449082.3 2 2 0 0 0 28 157 SCN10A:single_exon:E25 0.500000 138 SCN10A:exon_block:E24-E25 0.500000 192 SCN10A:boundary_CDS_coverage:after_E14 1.000000 3762 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN11A ENST00000302328.9 9 9 0 0 0 30 169 SCN11A:single_exon:E9 0.333333 95 SCN11A:exon_block:E9-E13 0.444444 682 SCN11A:boundary_CDS_coverage:after_E1 1.000000 5373 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN1A ENST00000674923.1 2107 1902 390 0 205 29 163 SCN1A:single_exon:E29 0.183673 6610 SCN1A:exon_block:E25-E29 0.289511 7178 SCN1A:boundary_CDS_coverage:after_E1 1.000000 6027 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN1B ENST00000262631.11 37 26 11 0 11 6 24 SCN1B:single_exon:E3 0.378378 241 SCN1B:exon_block:E1-E4 0.945946 941 SCN1B:boundary_CDS_coverage:after_E1 0.891892 614 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN2A ENST00000375437.7 690 639 115 0 51 27 151 SCN2A:single_exon:E27 0.163768 3676 SCN2A:exon_block:E23-E27 0.340580 4244 SCN2A:boundary_CDS_coverage:after_E1 1.000000 6015 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN3A ENST00000283254.12 36 33 6 0 3 28 157 SCN3A:single_exon:E28 0.250000 3820 SCN3A:exon_block:E25-E28 0.472222 4334 SCN3A:boundary_CDS_coverage:after_E1 1.000000 6000 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN3B ENST00000299333.8 2 2 0 0 0 7 30 SCN3B:single_exon:E2 0.500000 80 SCN3B:exon_block:E2-E5 1.000000 609 SCN3B:boundary_CDS_coverage:after_E1 1.000000 645 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN4A ENST00000435607.3 165 156 32 0 9 24 133 SCN4A:single_exon:E24 0.236364 3440 SCN4A:exon_block:E20-E24 0.381818 4008 SCN4A:boundary_CDS_coverage:after_E2 0.981818 5116 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN4B ENST00000324727.9 2 2 0 0 0 5 19 SCN4B:single_exon:E4 1.000000 130 SCN4B:exon_block:E3-E4 1.000000 359 SCN4B:boundary_CDS_coverage:after_E3 1.000000 221 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN5A ENST00000423572.7 535 459 125 0 76 28 157 SCN5A:single_exon:E28 0.145794 3497 SCN5A:exon_block:E24-E28 0.274766 4065 SCN5A:boundary_CDS_coverage:after_E1 1.000000 6045 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN7A ENST00000643258.1 1 1 0 0 0 26 145 SCN7A:single_exon:E14 1.000000 174 SCN7A:exon_block:E13-E14 1.000000 413 SCN7A:boundary_CDS_coverage:after_E13 1.000000 3420 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN8A ENST00000627620.5 362 337 43 0 25 27 151 SCN8A:single_exon:E27 0.204420 6583 SCN8A:exon_block:E23-E27 0.367403 7151 SCN8A:boundary_CDS_coverage:after_E1 1.000000 5940 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCN9A ENST00000642356.2 179 144 47 0 35 27 151 SCN9A:single_exon:E16 0.111732 357 SCN9A:exon_block:E14-E18 0.279330 1368 SCN9A:boundary_CDS_coverage:after_E1 1.000000 5964 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCNM1 ENST00000368905.9 2 2 0 0 0 7 31 SCNM1:single_exon:E3 1.000000 89 SCNM1:exon_block:E2-E3 1.000000 160 SCNM1:boundary_CDS_coverage:after_E2 1.000000 568 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCNN1A ENST00000228916.7 39 29 12 0 10 13 67 SCNN1A:single_exon:E2 0.205128 470 SCNN1A:exon_block:E2-E5 0.615385 1033 SCNN1A:boundary_CDS_coverage:after_E1 1.000000 2007 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCNN1B ENST00000343070.7 45 39 7 0 6 13 67 SCNN1B:single_exon:E13 0.377778 874 SCNN1B:exon_block:E9-E13 0.555556 1146 SCNN1B:boundary_CDS_coverage:after_E1 1.000000 1920 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCNN1G ENST00000300061.3 16 12 4 0 4 13 67 SCNN1G:single_exon:E13 0.375000 1795 SCNN1G:exon_block:E9-E13 0.500000 2070 SCNN1G:boundary_CDS_coverage:after_E1 1.000000 1947 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCO1 ENST00000255390.10 13 12 4 0 1 6 25 SCO1:single_exon:E1 0.461538 299 SCO1:exon_block:E1-E5 1.000000 797 SCO1:boundary_CDS_coverage:after_E1 0.538462 630 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCO2 ENST00000395693.8 110 49 0 0 0 2 4 SCO2:single_exon:E2 0.445455 857 SCO2:exon_block:E1-E2 0.445455 984 SCO2:boundary_CDS_coverage:after_E1 0.445455 798 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCP2 ENST00000371514.8 27 16 13 0 11 16 85 SCP2:single_exon:E9 0.185185 151 SCP2:exon_block:E6-E10 0.518519 577 SCP2:boundary_CDS_coverage:after_E1 1.000000 1572 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCRIB ENST00000356994.7 1 1 0 0 0 37 211 SCRIB:single_exon:E11 1.000000 167 SCRIB:exon_block:E11-E12 1.000000 298 SCRIB:boundary_CDS_coverage:after_E10 1.000000 3859 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCUBE2 ENST00000649792.2 1 1 0 0 0 23 127 SCUBE2:single_exon:E17 1.000000 171 SCUBE2:exon_block:E17-E18 1.000000 339 SCUBE2:boundary_CDS_coverage:after_E16 1.000000 1082 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCUBE3 ENST00000274938.8 11 8 4 0 3 22 121 SCUBE3:single_exon:E19 0.272727 198 SCUBE3:exon_block:E17-E21 0.454545 761 SCUBE3:boundary_CDS_coverage:after_E2 1.000000 2771 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCYL1 ENST00000270176.10 34 29 8 0 5 18 97 SCYL1:single_exon:E11 0.147059 189 SCYL1:exon_block:E8-E12 0.470588 643 SCYL1:boundary_CDS_coverage:after_E1 0.911765 2313 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SCYL2 ENST00000360820.7 9 9 1 0 0 18 97 SCYL2:single_exon:E2 0.333333 205 SCYL2:exon_block:E2-E5 0.666667 658 SCYL2:boundary_CDS_coverage:after_E1 1.000000 2787 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SDCCAG8 ENST00000366541.8 90 64 30 0 26 18 97 SDCCAG8:single_exon:E8 0.088889 189 SDCCAG8:exon_block:E5-E9 0.344444 648 SDCCAG8:boundary_CDS_coverage:after_E1 0.922222 2072 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SDHA ENST00000264932.11 320 245 119 2 73 15 79 SDHA:single_exon:E8 0.109375 169 SDHA:exon_block:E8-E12 0.396875 768 SDHA:boundary_CDS_coverage:after_E1 0.931250 1929 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SDHAF1 ENST00000378887.4 7 7 0 0 0 1 1 SDHAF1:single_exon:E1 1.000000 1125 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SDHAF2 ENST00000301761.7 44 32 17 0 12 4 13 SDHAF2:single_exon:E2 0.568182 224 SDHAF2:exon_block:E1-E4 0.977273 1186 SDHAF2:boundary_CDS_coverage:after_E1 0.954545 462 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SDHB ENST00000375499.8 280 234 91 0 46 8 37 SDHB:single_exon:E7 0.185714 123 SDHB:exon_block:E3-E7 0.732143 565 SDHB:boundary_CDS_coverage:after_E1 0.935714 768 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SDHC ENST00000367975.7 96 65 45 0 30 6 25 SDHC:single_exon:E5 0.291667 164 SDHC:exon_block:E1-E5 0.916667 430 SDHC:boundary_CDS_coverage:after_E1 0.906250 487 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SDHD ENST00000375549.8 157 126 49 0 31 4 13 SDHD:single_exon:E3 0.356688 145 SDHD:exon_block:E1-E4 0.987261 1339 SDHD:boundary_CDS_coverage:after_E1 0.891720 425 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SDR9C7 ENST00000293502.2 6 5 1 0 1 4 13 SDR9C7:single_exon:E2 0.500000 259 SDR9C7:exon_block:E1-E4 1.000000 1789 SDR9C7:boundary_CDS_coverage:after_E1 0.833333 638 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEC23A ENST00000307712.11 3 2 1 0 1 20 109 SEC23A:single_exon:E10 0.666667 124 SEC23A:exon_block:E10-E11 0.666667 205 SEC23A:boundary_CDS_coverage:after_E9 1.000000 1192 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEC23B ENST00000650089.1 95 74 42 0 21 20 109 SEC23B:single_exon:E14 0.147368 154 SEC23B:exon_block:E2-E6 0.326316 703 SEC23B:boundary_CDS_coverage:after_E1 1.000000 2301 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEC24C ENST00000345254.9 1 1 0 0 0 23 127 SEC24C:single_exon:E4 1.000000 173 SEC24C:exon_block:E3-E4 1.000000 309 SEC24C:boundary_CDS_coverage:after_E3 1.000000 2974 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEC24D ENST00000280551.11 41 35 9 0 6 23 127 SEC24D:single_exon:E2 0.146341 159 SEC24D:exon_block:E2-E6 0.414634 842 SEC24D:boundary_CDS_coverage:after_E1 1.000000 3096 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEC31A ENST00000395310.7 1 1 0 0 0 27 151 SEC31A:single_exon:E22 1.000000 342 SEC31A:exon_block:E22-E23 1.000000 401 SEC31A:boundary_CDS_coverage:after_E21 1.000000 1034 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEC61A1 ENST00000243253.8 9 9 0 0 0 12 61 SEC61A1:single_exon:E5 0.333333 132 SEC61A1:exon_block:E4-E7 0.666667 475 SEC61A1:boundary_CDS_coverage:after_E3 1.000000 1287 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEC63 ENST00000369002.9 58 48 23 0 10 21 115 SEC63:single_exon:E2 0.103448 100 SEC63:exon_block:E1-E5 0.344828 713 SEC63:boundary_CDS_coverage:after_E1 0.965517 2156 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SECISBP2 ENST00000375807.8 13 9 5 0 4 17 91 SECISBP2:single_exon:E3 0.230769 250 SECISBP2:exon_block:E2-E5 0.461538 765 SECISBP2:boundary_CDS_coverage:after_E2 1.000000 2380 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEL1L ENST00000336735.9 1 1 0 0 0 21 115 SEL1L:single_exon:E4 1.000000 168 SEL1L:exon_block:E4-E5 1.000000 274 SEL1L:boundary_CDS_coverage:after_E3 1.000000 2042 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SELENBP1 ENST00000368868.10 4 3 3 0 1 12 61 SELENBP1:single_exon:E9 0.500000 122 SELENBP1:exon_block:E5-E9 1.000000 684 SELENBP1:boundary_CDS_coverage:after_E5 1.000000 935 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SELENOI ENST00000260585.12 4 3 3 0 1 10 49 SELENOI:single_exon:E2 0.250000 69 SELENOI:exon_block:E2-E5 0.750000 516 SELENOI:boundary_CDS_coverage:after_E2 1.000000 1065 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SELENON ENST00000374315.1 112 88 32 6 16 12 61 SELENON:single_exon:E1 0.214286 221 SELENON:exon_block:E1-E5 0.553571 808 SELENON:boundary_CDS_coverage:after_E1 0.767857 1485 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SELP ENST00000263686.11 1 0 1 0 1 17 90 SELP:single_exon:E5 1.000000 186 SELP:exon_block:E4-E5 1.000000 294 SELP:boundary_CDS_coverage:after_E5 1.000000 1715 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEMA3A ENST00000265362.9 4 3 1 0 1 17 91 SEMA3A:single_exon:E14 0.500000 158 SEMA3A:exon_block:E13-E14 0.500000 200 SEMA3A:boundary_CDS_coverage:after_E3 1.000000 1980 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEMA3D ENST00000284136.11 1 1 0 0 0 19 103 SEMA3D:single_exon:E17 1.000000 65 SEMA3D:exon_block:E17-E18 1.000000 205 SEMA3D:boundary_CDS_coverage:after_E16 1.000000 628 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEMA3E ENST00000643230.2 1 1 0 0 0 17 91 SEMA3E:single_exon:E6 1.000000 120 SEMA3E:exon_block:E5-E6 1.000000 214 SEMA3E:boundary_CDS_coverage:after_E5 1.000000 1775 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEMA4A ENST00000368285.8 4 4 1 0 0 15 79 SEMA4A:single_exon:E10 0.500000 151 SEMA4A:exon_block:E8-E12 1.000000 749 SEMA4A:boundary_CDS_coverage:after_E7 1.000000 1598 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEMA6A ENST00000343348.11 1 1 0 0 0 19 103 SEMA6A:single_exon:E13 1.000000 177 SEMA6A:exon_block:E13-E14 1.000000 318 SEMA6A:boundary_CDS_coverage:after_E12 1.000000 1840 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEMA6B ENST00000586582.6 27 25 3 0 2 17 91 SEMA6B:single_exon:E17 0.814815 1937 SEMA6B:exon_block:E14-E17 0.925926 2221 SEMA6B:boundary_CDS_coverage:after_E6 1.000000 2193 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEMA7A ENST00000261918.9 1 1 0 0 0 14 73 SEMA7A:single_exon:E4 1.000000 93 SEMA7A:exon_block:E3-E4 1.000000 135 SEMA7A:boundary_CDS_coverage:after_E3 1.000000 1626 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SENP7 ENST00000394095.7 3 3 2 0 0 24 133 SENP7:single_exon:E10 0.333333 158 SENP7:exon_block:E8-E10 0.666667 680 SENP7:boundary_CDS_coverage:after_E7 1.000000 2354 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEPHS1 ENST00000327347.10 3 3 0 0 0 9 43 SEPHS1:single_exon:E9 1.000000 1929 SEPHS1:exon_block:E8-E9 1.000000 2142 SEPHS1:boundary_CDS_coverage:after_E8 1.000000 212 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEPSECS ENST00000382103.7 105 86 28 0 19 11 55 SEPSECS:single_exon:E4 0.161905 159 SEPSECS:exon_block:E1-E5 0.571429 781 SEPSECS:boundary_CDS_coverage:after_E1 0.933333 1389 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEPTIN9 ENST00000427177.6 3 2 0 0 1 12 61 SEPTIN9:single_exon:E3 0.666667 645 SEPTIN9:exon_block:E2-E3 0.666667 702 SEPTIN9:boundary_CDS_coverage:after_E2 1.000000 1682 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERAC1 ENST00000647468.2 58 42 20 0 16 17 91 SERAC1:single_exon:E15 0.137931 183 SERAC1:exon_block:E11-E15 0.448276 669 SERAC1:boundary_CDS_coverage:after_E1 1.000000 1962 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINA1 ENST00000393087.9 81 74 15 0 7 5 19 SERPINA1:single_exon:E2 0.493827 650 SERPINA1:exon_block:E1-E5 1.000000 3006 SERPINA1:boundary_CDS_coverage:after_E1 1.000000 1254 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINA11 ENST00000334708.4 1 1 0 0 0 5 19 SERPINA11:single_exon:E3 1.000000 274 SERPINA11:exon_block:E3-E4 1.000000 422 SERPINA11:boundary_CDS_coverage:after_E2 1.000000 623 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINA12 ENST00000677451.1 1 1 1 0 0 5 19 SERPINA12:single_exon:E4 1.000000 148 SERPINA12:exon_block:E4-E5 1.000000 364 SERPINA12:boundary_CDS_coverage:after_E3 1.000000 337 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINA3 ENST00000393078.5 1 1 0 0 0 5 19 SERPINA3:single_exon:E2 1.000000 651 SERPINA3:exon_block:E1-E2 1.000000 708 SERPINA3:boundary_CDS_coverage:after_E1 1.000000 1269 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINA6 ENST00000341584.4 2 2 0 0 0 5 19 SERPINA6:single_exon:E2 1.000000 632 SERPINA6:exon_block:E1-E2 1.000000 702 SERPINA6:boundary_CDS_coverage:after_E1 1.000000 1215 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINA7 ENST00000372563.2 5 5 0 0 0 5 19 SERPINA7:single_exon:E2 0.400000 639 SERPINA7:exon_block:E2-E5 1.000000 2330 SERPINA7:boundary_CDS_coverage:after_E1 1.000000 1245 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINB6 ENST00000380539.7 4 4 1 0 0 7 31 SERPINB6:single_exon:E3 0.250000 147 SERPINB6:exon_block:E2-E6 0.750000 739 SERPINB6:boundary_CDS_coverage:after_E1 1.000000 1128 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINB7 ENST00000398019.7 10 8 4 0 2 8 37 SERPINB7:single_exon:E6 0.300000 143 SERPINB7:exon_block:E2-E6 0.800000 615 SERPINB7:boundary_CDS_coverage:after_E1 1.000000 1140 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINB8 ENST00000397985.7 3 3 0 0 0 7 31 SERPINB8:single_exon:E3 0.333333 138 SERPINB8:exon_block:E2-E3 0.666667 316 SERPINB8:boundary_CDS_coverage:after_E1 1.000000 1122 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINC1 ENST00000367698.4 153 128 21 0 24 7 31 SERPINC1:single_exon:E2 0.267974 367 SERPINC1:exon_block:E2-E6 0.751634 1177 SERPINC1:boundary_CDS_coverage:after_E1 0.980392 1351 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPIND1 ENST00000215727.10 4 4 0 0 0 5 19 SERPIND1:single_exon:E5 0.500000 846 SERPIND1:exon_block:E2-E5 1.000000 2170 SERPIND1:boundary_CDS_coverage:after_E1 1.000000 1497 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINE1 ENST00000223095.5 2 1 1 0 0 9 43 SERPINE1:single_exon:E4 0.500000 195 SERPINE1:exon_block:E4-E5 0.500000 394 SERPINE1:boundary_CDS_coverage:after_E3 0.500000 701 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINF1 ENST00000254722.9 58 47 15 0 11 8 37 SERPINF1:single_exon:E8 0.241379 379 SERPINF1:exon_block:E4-E8 0.706897 1093 SERPINF1:boundary_CDS_coverage:after_E1 1.000000 1254 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINF2 ENST00000453066.6 5 4 1 0 1 10 49 SERPINF2:single_exon:E7 0.400000 204 SERPINF2:exon_block:E7-E10 0.800000 1696 SERPINF2:boundary_CDS_coverage:after_E3 1.000000 1371 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPING1 ENST00000278407.9 374 324 69 0 48 8 37 SERPING1:single_exon:E3 0.229947 499 SERPING1:exon_block:E3-E7 0.711230 1198 SERPING1:boundary_CDS_coverage:after_E1 0.994652 1500 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINH1 ENST00000358171.8 13 10 1 0 1 5 19 SERPINH1:single_exon:E2 0.461538 656 SERPINH1:exon_block:E2-E5 0.846154 1991 SERPINH1:boundary_CDS_coverage:after_E1 0.846154 1254 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SERPINI1 ENST00000446050.7 6 6 0 0 0 9 43 SERPINI1:single_exon:E9 0.500000 323 SERPINI1:exon_block:E7-E9 0.666667 500 SERPINI1:boundary_CDS_coverage:after_E1 1.000000 1230 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SET ENST00000322030.13 36 31 10 0 5 8 37 SET:single_exon:E6 0.305556 171 SET:exon_block:E2-E6 0.944444 590 SET:boundary_CDS_coverage:after_E1 0.972222 758 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SETBP1 ENST00000649279.2 125 120 3 0 5 6 25 SETBP1:single_exon:E4 0.784000 3460 SETBP1:exon_block:E2-E6 0.984000 9775 SETBP1:boundary_CDS_coverage:after_E1 1.000000 4788 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SETD1A ENST00000262519.14 69 64 11 0 5 19 103 SETD1A:single_exon:E7 0.188406 850 SETD1A:exon_block:E4-E8 0.492754 2259 SETD1A:boundary_CDS_coverage:after_E1 1.000000 5121 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SETD1B ENST00000604567.6 95 92 10 0 3 17 91 SETD1B:single_exon:E12 0.178947 1260 SETD1B:exon_block:E12-E16 0.410526 1817 SETD1B:boundary_CDS_coverage:after_E1 1.000000 5898 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SETD2 ENST00000409792.4 68 61 14 0 7 21 115 SETD2:single_exon:E3 0.411765 4367 SETD2:exon_block:E3-E7 0.529412 4830 SETD2:boundary_CDS_coverage:after_E2 1.000000 7605 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SETD5 ENST00000402198.7 268 238 64 0 30 23 127 SETD5:single_exon:E14 0.126866 258 SETD5:exon_block:E14-E18 0.410448 1200 SETD5:boundary_CDS_coverage:after_E3 1.000000 4255 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SETD6 ENST00000219315.9 2 0 0 2 0 8 37 SETD6:single_exon:E8 1.000000 5119 SETD6:exon_block:E7-E8 1.000000 5262 SETD6:boundary_CDS_coverage:after_E7 1.000000 303 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SETSIP ENST00000596516.3 1 1 0 0 0 1 1 SETSIP:single_exon:E1 1.000000 879 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SETX ENST00000224140.6 117 105 30 0 12 26 145 SETX:single_exon:E10 0.384615 4176 SETX:exon_block:E10-E14 0.547009 4851 SETX:boundary_CDS_coverage:after_E1 1.000000 8031 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEZ6 ENST00000317338.17 1 1 0 0 0 17 91 SEZ6:single_exon:E2 1.000000 669 SEZ6:exon_block:E2-E3 1.000000 803 SEZ6:boundary_CDS_coverage:after_E1 1.000000 2927 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SEZ6L ENST00000248933.11 1 1 0 0 0 17 91 SEZ6L:single_exon:E12 1.000000 192 SEZ6L:exon_block:E11-E12 1.000000 387 SEZ6L:boundary_CDS_coverage:after_E11 1.000000 665 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SF1 ENST00000377390.8 2 2 0 0 0 13 67 SF1:single_exon:E3 0.500000 76 SF1:exon_block:E2-E3 0.500000 205 SF1:boundary_CDS_coverage:after_E2 1.000000 1757 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SF3A1 ENST00000215793.13 1 1 0 0 0 16 85 SF3A1:single_exon:E11 1.000000 246 SF3A1:exon_block:E10-E11 1.000000 368 SF3A1:boundary_CDS_coverage:after_E10 1.000000 882 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SF3B1 ENST00000335508.11 4 4 0 0 0 25 139 SF3B1:single_exon:E14 1.000000 271 SF3B1:exon_block:E13-E14 1.000000 358 SF3B1:boundary_CDS_coverage:after_E13 1.000000 2106 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SF3B2 ENST00000322535.11 9 7 3 0 2 22 121 SF3B2:single_exon:E1 0.222222 154 SF3B2:exon_block:E1-E2 0.333333 201 SF3B2:boundary_CDS_coverage:after_E2 0.777778 2505 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SF3B4 ENST00000271628.9 47 43 5 0 4 6 25 SF3B4:single_exon:E4 0.340426 207 SF3B4:exon_block:E2-E6 0.936170 1466 SF3B4:boundary_CDS_coverage:after_E1 0.936170 1238 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SFRP4 ENST00000436072.7 15 13 2 0 2 6 25 SFRP4:single_exon:E1 0.666667 725 SFRP4:exon_block:E1-E5 1.000000 1135 SFRP4:boundary_CDS_coverage:after_E1 0.400000 593 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SFTPA1 ENST00000398636.8 4 4 0 0 0 6 25 SFTPA1:single_exon:E6 1.000000 1707 SFTPA1:exon_block:E5-E6 1.000000 1785 SFTPA1:boundary_CDS_coverage:after_E5 1.000000 374 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SFTPA2 ENST00000372325.7 5 5 0 0 0 6 25 SFTPA2:single_exon:E6 1.000000 1734 SFTPA2:exon_block:E5-E6 1.000000 1812 SFTPA2:boundary_CDS_coverage:after_E5 1.000000 374 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SFTPB ENST00000519937.7 19 14 6 0 5 11 54 SFTPB:single_exon:E4 0.263158 126 SFTPB:exon_block:E4-E8 0.789474 735 SFTPB:boundary_CDS_coverage:after_E1 1.000000 1076 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SFTPC ENST00000679463.1 28 22 15 0 6 6 24 SFTPC:single_exon:E4 0.500000 111 SFTPC:exon_block:E2-E5 1.000000 552 SFTPC:boundary_CDS_coverage:after_E1 1.000000 531 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SFXN4 ENST00000355697.7 14 9 11 0 5 14 73 SFXN4:single_exon:E7 0.214286 54 SFXN4:exon_block:E11-E14 0.571429 873 SFXN4:boundary_CDS_coverage:after_E2 1.000000 834 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGCA ENST00000262018.8 186 153 59 1 32 10 48 SGCA:single_exon:E3 0.241935 155 SGCA:exon_block:E3-E7 0.768817 799 SGCA:boundary_CDS_coverage:after_E1 0.967742 1124 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGCB ENST00000381431.10 129 107 31 0 22 6 25 SGCB:single_exon:E4 0.240310 192 SGCB:exon_block:E1-E5 0.945736 793 SGCB:boundary_CDS_coverage:after_E1 0.852713 921 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGCD ENST00000337851.9 50 39 19 0 11 9 43 SGCD:single_exon:E6 0.260000 120 SGCD:exon_block:E3-E7 0.820000 572 SGCD:boundary_CDS_coverage:after_E2 1.000000 867 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGCE ENST00000648936.2 158 129 44 0 29 11 55 SGCE:single_exon:E6 0.291139 163 SGCE:exon_block:E3-E7 0.778481 805 SGCE:boundary_CDS_coverage:after_E1 0.993671 1202 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGCG ENST00000218867.4 105 79 37 0 26 8 37 SGCG:single_exon:E2 0.190476 195 SGCG:exon_block:E4-E8 0.676190 1200 SGCG:boundary_CDS_coverage:after_E1 1.000000 873 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGK1 ENST00000367858.10 1 1 0 0 0 14 73 SGK1:single_exon:E13 1.000000 90 SGK1:exon_block:E12-E13 1.000000 246 SGK1:boundary_CDS_coverage:after_E12 1.000000 255 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGK2 ENST00000373100.7 1 1 0 0 0 13 67 SGK2:single_exon:E7 1.000000 113 SGK2:exon_block:E7-E8 1.000000 150 SGK2:boundary_CDS_coverage:after_E6 1.000000 741 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGMS1 ENST00000361781.7 2 2 0 0 0 11 55 SGMS1:single_exon:E8 0.500000 118 SGMS1:exon_block:E8-E9 1.000000 272 SGMS1:boundary_CDS_coverage:after_E7 1.000000 616 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGMS2 ENST00000690982.1 4 4 0 0 0 7 31 SGMS2:single_exon:E3 0.750000 699 SGMS2:exon_block:E3-E5 1.000000 971 SGMS2:boundary_CDS_coverage:after_E1 1.000000 1095 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGO1 ENST00000412997.6 1 1 0 0 0 8 37 SGO1:single_exon:E2 1.000000 149 SGO1:exon_block:E2-E3 1.000000 346 SGO1:boundary_CDS_coverage:after_E1 1.000000 1581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGO2 ENST00000357799.9 1 1 0 0 0 9 43 SGO2:single_exon:E7 1.000000 2928 SGO2:exon_block:E7-E8 1.000000 3079 SGO2:boundary_CDS_coverage:after_E6 1.000000 3092 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGPL1 ENST00000373202.8 29 25 4 0 4 15 79 SGPL1:single_exon:E3 0.206897 166 SGPL1:exon_block:E8-E12 0.448276 683 SGPL1:boundary_CDS_coverage:after_E1 1.000000 1704 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGSH ENST00000326317.11 210 195 25 0 15 8 37 SGSH:single_exon:E8 0.352381 1736 SGSH:exon_block:E4-E8 0.738095 2330 SGSH:boundary_CDS_coverage:after_E1 0.947619 1418 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SGSM3 ENST00000248929.14 2 2 1 0 0 22 121 SGSM3:single_exon:E14 0.500000 55 SGSM3:exon_block:E10-E14 1.000000 619 SGSM3:boundary_CDS_coverage:after_E9 1.000000 1287 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SH2B3 ENST00000341259.7 5 5 1 0 0 8 37 SH2B3:single_exon:E6 0.400000 215 SH2B3:exon_block:E2-E6 0.800000 1263 SH2B3:boundary_CDS_coverage:after_E1 1.000000 1725 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SH2D1A ENST00000371139.9 43 28 19 3 12 4 13 SH2D1A:single_exon:E2 0.488372 64 SH2D1A:exon_block:E1-E4 1.000000 2236 SH2D1A:boundary_CDS_coverage:after_E1 0.767442 247 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SH2D7 ENST00000328828.6 1 0 0 0 0 6 25 SH2D7:single_exon:E2 0.000000 90 SH2D7:exon_block:E2-E3 0.000000 256 SH2D7:boundary_CDS_coverage:after_E5 1.000000 48 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SH3BGRL2 ENST00000369838.6 1 0 0 0 0 4 13 SH3BGRL2:single_exon:E3 0.000000 81 SH3BGRL2:exon_block:E2-E3 0.000000 267 SH3BGRL2:boundary_CDS_coverage:after_E3 0.000000 9 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SH3BP2 ENST00000503393.8 10 10 3 0 0 13 67 SH3BP2:single_exon:E9 1.000000 109 SH3BP2:exon_block:E9-E10 1.000000 165 SH3BP2:boundary_CDS_coverage:after_E8 1.000000 442 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SH3PXD2B ENST00000311601.6 16 10 9 0 6 13 67 SH3PXD2B:single_exon:E5 0.250000 92 SH3PXD2B:exon_block:E2-E5 0.562500 326 SH3PXD2B:boundary_CDS_coverage:after_E1 1.000000 2658 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SH3TC2 ENST00000515425.6 162 135 42 0 27 17 91 SH3TC2:single_exon:E11 0.456790 1695 SH3TC2:exon_block:E11-E15 0.604938 2301 SH3TC2:boundary_CDS_coverage:after_E1 0.987654 3812 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHANK1 ENST00000293441.6 19 19 1 0 0 24 133 SHANK1:single_exon:E23 0.526316 3094 SHANK1:exon_block:E20-E23 0.578947 3379 SHANK1:boundary_CDS_coverage:after_E5 1.000000 5843 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHANK2 ENST00000601538.6 42 40 12 0 2 26 145 SHANK2:single_exon:E25 0.285714 2407 SHANK2:exon_block:E22-E26 0.571429 8257 SHANK2:boundary_CDS_coverage:after_E1 1.000000 5547 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHARPIN ENST00000398712.7 3 3 0 0 0 9 42 SHARPIN:single_exon:E5 0.333333 109 SHARPIN:exon_block:E2-E5 1.000000 567 SHARPIN:boundary_CDS_coverage:after_E1 1.000000 960 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHC1 ENST00000448116.7 2 0 0 0 0 12 61 SHC1:single_exon:E6 0.000000 52 SHC1:exon_block:E5-E6 0.000000 106 SHC1:boundary_CDS_coverage:after_E11 0.000000 126 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHH ENST00000297261.7 125 119 6 1 3 3 8 SHH:single_exon:E3 0.520000 3747 SHH:exon_block:E1-E3 0.976000 4650 SHH:boundary_CDS_coverage:after_E1 0.784000 1086 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHMT2 ENST00000328923.8 3 3 0 0 0 12 61 SHMT2:single_exon:E5 0.333333 82 SHMT2:exon_block:E10-E12 0.666667 966 SHMT2:boundary_CDS_coverage:after_E4 1.000000 1000 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHOC1 ENST00000682961.1 13 12 1 0 1 28 157 SHOC1:single_exon:E13 0.384615 417 SHOC1:exon_block:E10-E13 0.692308 864 SHOC1:boundary_CDS_coverage:after_E4 1.000000 4267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHOC2 ENST00000369452.9 6 6 0 0 0 9 43 SHOC2:single_exon:E2 0.833333 937 SHOC2:exon_block:E2-E3 1.000000 1075 SHOC2:boundary_CDS_coverage:after_E1 1.000000 1746 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHOX ENST00000686671.1 58 51 9 1 5 5 19 SHOX:single_exon:E2 0.448276 209 SHOX:exon_block:E1-E5 0.982759 7934 SHOX:boundary_CDS_coverage:after_E1 0.862069 599 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHQ1 ENST00000325599.13 3 2 1 0 1 11 55 SHQ1:single_exon:E2 0.333333 65 SHQ1:exon_block:E2-E5 1.000000 456 SHQ1:boundary_CDS_coverage:after_E1 1.000000 1588 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHROOM2 ENST00000380913.8 1 1 0 0 0 10 49 SHROOM2:single_exon:E4 1.000000 2341 SHROOM2:exon_block:E4-E5 1.000000 2442 SHROOM2:boundary_CDS_coverage:after_E3 1.000000 4399 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SHROOM4 ENST00000376020.9 1 0 1 0 1 9 43 SHROOM4:single_exon:E8 1.000000 270 SHROOM4:exon_block:E7-E8 1.000000 451 SHROOM4:boundary_CDS_coverage:after_E8 1.000000 267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SI ENST00000264382.8 162 119 66 0 43 48 277 SI:single_exon:E25 0.061728 156 SI:exon_block:E24-E28 0.209877 858 SI:boundary_CDS_coverage:after_E1 1.000000 5481 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIAH1 ENST00000394725.3 19 19 0 0 0 2 4 SIAH1:single_exon:E2 1.000000 1900 SIAH1:exon_block:E1-E2 1.000000 2110 SIAH1:boundary_CDS_coverage:after_E1 1.000000 846 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIGMAR1 ENST00000277010.9 27 20 7 2 5 4 13 SIGMAR1:single_exon:E4 0.333333 1137 SIGMAR1:exon_block:E1-E4 1.000000 1672 SIGMAR1:boundary_CDS_coverage:after_E1 0.740741 518 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIK1 ENST00000270162.8 8 8 0 0 0 14 73 SIK1:single_exon:E13 0.375000 232 SIK1:exon_block:E9-E13 0.875000 1004 SIK1:boundary_CDS_coverage:after_E7 1.000000 1601 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIK3 ENST00000445177.6 2 2 0 0 0 25 138 SIK3:single_exon:E7 0.500000 119 SIK3:exon_block:E4-E7 1.000000 530 SIK3:boundary_CDS_coverage:after_E3 1.000000 3653 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIL1 ENST00000394817.7 34 23 14 0 11 10 49 SIL1:single_exon:E10 0.294118 750 SIL1:exon_block:E6-E10 0.676471 1326 SIL1:boundary_CDS_coverage:after_E1 1.000000 1383 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIM1 ENST00000369208.8 11 10 1 0 1 12 61 SIM1:single_exon:E11 0.363636 403 SIM1:exon_block:E7-E11 0.727273 1027 SIM1:boundary_CDS_coverage:after_E1 1.000000 2298 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIM2 ENST00000290399.11 1 1 1 0 0 11 55 SIM2:single_exon:E5 1.000000 86 SIM2:exon_block:E4-E5 1.000000 195 SIM2:boundary_CDS_coverage:after_E4 1.000000 1544 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIN3A ENST00000394947.8 107 95 25 0 12 21 115 SIN3A:single_exon:E15 0.177570 574 SIN3A:exon_block:E11-E15 0.448598 1325 SIN3A:boundary_CDS_coverage:after_E1 1.000000 3819 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIN3B ENST00000248054.10 3 2 2 0 1 19 103 SIN3B:single_exon:E17 0.333333 95 SIN3B:exon_block:E4-E5 0.666667 345 SIN3B:boundary_CDS_coverage:after_E3 1.000000 3009 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIPA1 ENST00000534313.6 1 0 0 0 0 16 85 SIPA1:single_exon:E14 0.000000 55 SIPA1:exon_block:E14-E15 0.000000 134 SIPA1:boundary_CDS_coverage:after_E15 1.000000 144 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIPA1L3 ENST00000222345.11 2 2 0 0 0 22 121 SIPA1L3:single_exon:E12 0.500000 138 SIPA1L3:exon_block:E12-E13 0.500000 266 SIPA1L3:boundary_CDS_coverage:after_E11 1.000000 1948 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIRT4 ENST00000202967.4 30 0 0 0 0 4 13 SIRT4:single_exon:E1 0.000000 58 SIRT4:exon_block:E1-E2 0.000000 556 SIRT4:boundary_CDS_coverage:after_E3 0.000000 150 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIRT6 ENST00000337491.7 1 1 0 0 0 8 37 SIRT6:single_exon:E3 1.000000 183 SIRT6:exon_block:E3-E4 1.000000 243 SIRT6:boundary_CDS_coverage:after_E2 1.000000 871 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIX1 ENST00000645694.3 25 24 1 0 1 2 4 SIX1:single_exon:E1 0.960000 848 SIX1:exon_block:E1-E2 1.000000 4005 SIX1:boundary_CDS_coverage:after_E1 0.080000 292 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIX2 ENST00000303077.7 1 1 0 0 0 2 4 SIX2:single_exon:E2 1.000000 1304 SIX2:exon_block:E1-E2 1.000000 2206 SIX2:boundary_CDS_coverage:after_E1 1.000000 313 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIX3 ENST00000260653.5 31 30 1 0 1 2 4 SIX3:single_exon:E1 0.967742 1209 SIX3:exon_block:E1-E2 1.000000 2713 SIX3:boundary_CDS_coverage:after_E1 0.064516 190 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIX5 ENST00000317578.7 2 2 0 0 0 3 8 SIX5:single_exon:E2 0.500000 806 SIX5:exon_block:E1-E2 1.000000 2017 SIX5:boundary_CDS_coverage:after_E1 0.500000 1414 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SIX6 ENST00000327720.6 8 7 0 1 0 2 4 SIX6:single_exon:E1 1.000000 825 SIX6:exon_block:E1-E2 1.000000 2592 SIX6:boundary_CDS_coverage:after_E1 0.000000 166 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SKI ENST00000378536.5 32 32 0 0 0 7 31 SKI:single_exon:E1 0.968750 1417 SKI:exon_block:E1-E2 1.000000 1543 SKI:boundary_CDS_coverage:after_E1 0.031250 1215 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SKIC2 ENST00000375394.7 143 103 56 0 40 28 157 SKIC2:single_exon:E20 0.083916 138 SKIC2:exon_block:E16-E20 0.251748 831 SKIC2:boundary_CDS_coverage:after_E1 0.993007 3716 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SKIC3 ENST00000358746.7 173 128 60 0 45 43 247 SKIC3:single_exon:E33 0.057803 222 SKIC3:exon_block:E18-E22 0.179191 804 SKIC3:boundary_CDS_coverage:after_E1 1.000000 4692 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SKOR2 ENST00000425639.3 3 3 1 0 0 9 42 SKOR2:single_exon:E2 0.666667 2660 SKOR2:exon_block:E2-E4 1.000000 2799 SKOR2:boundary_CDS_coverage:after_E1 1.000000 3045 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLA ENST00000338087.10 10 0 0 0 10 9 43 SLA:single_exon:E1 0.000000 50 SLA:exon_block:E4-E5 0.000000 187 SLA:boundary_CDS_coverage:after_E1 1.000000 828 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC10A1 ENST00000216540.5 6 6 0 0 0 5 19 SLC10A1:single_exon:E3 0.666667 179 SLC10A1:exon_block:E1-E3 1.000000 832 SLC10A1:boundary_CDS_coverage:after_E1 0.833333 691 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC10A2 ENST00000245312.5 1 0 1 0 1 6 25 SLC10A2:single_exon:E3 1.000000 89 SLC10A2:exon_block:E2-E3 1.000000 208 SLC10A2:boundary_CDS_coverage:after_E3 1.000000 459 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC10A7 ENST00000335472.12 7 6 3 0 1 12 61 SLC10A7:single_exon:E3 0.428571 137 SLC10A7:exon_block:E3-E7 0.857143 372 SLC10A7:boundary_CDS_coverage:after_E2 1.000000 837 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC11A2 ENST00000262052.9 8 6 2 0 2 16 85 SLC11A2:single_exon:E5 0.250000 120 SLC11A2:exon_block:E3-E5 0.500000 395 SLC11A2:boundary_CDS_coverage:after_E2 1.000000 1649 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC12A1 ENST00000380993.8 132 99 50 0 33 27 151 SLC12A1:single_exon:E15 0.098485 156 SLC12A1:exon_block:E11-E15 0.325758 642 SLC12A1:boundary_CDS_coverage:after_E1 1.000000 3297 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC12A2 ENST00000262461.7 30 23 15 0 7 27 151 SLC12A2:single_exon:E21 0.266667 48 SLC12A2:exon_block:E18-E22 0.400000 484 SLC12A2:boundary_CDS_coverage:after_E3 0.900000 2684 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC12A3 ENST00000563236.6 453 357 161 0 94 26 145 SLC12A3:single_exon:E10 0.072848 155 SLC12A3:exon_block:E7-E11 0.225166 591 SLC12A3:boundary_CDS_coverage:after_E1 0.929360 2781 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC12A4 ENST00000316341.8 5 0 0 5 0 24 133 SLC12A4:single_exon:E24 1.000000 1458 SLC12A4:exon_block:E23-E24 1.000000 1592 SLC12A4:boundary_CDS_coverage:after_E23 1.000000 89 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC12A5 ENST00000243964.7 46 37 13 0 9 26 145 SLC12A5:single_exon:E8 0.130435 212 SLC12A5:exon_block:E6-E10 0.304348 855 SLC12A5:boundary_CDS_coverage:after_E1 0.956522 3296 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC12A6 ENST00000354181.8 235 182 87 0 53 26 145 SLC12A6:single_exon:E6 0.076596 147 SLC12A6:exon_block:E6-E10 0.242553 790 SLC12A6:boundary_CDS_coverage:after_E1 1.000000 3450 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC12A9 ENST00000354161.8 7 0 0 0 0 14 73 SLC12A9:single_exon:E9 0.000000 83 SLC12A9:exon_block:E9-E10 0.000000 208 SLC12A9:boundary_CDS_coverage:after_E13 0.000000 884 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC13A3 ENST00000279027.9 4 4 2 0 0 13 67 SLC13A3:single_exon:E6 0.250000 126 SLC13A3:exon_block:E5-E6 0.500000 312 SLC13A3:boundary_CDS_coverage:after_E4 1.000000 1198 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC13A5 ENST00000433363.7 59 42 22 0 17 12 61 SLC13A5:single_exon:E11 0.169492 138 SLC13A5:exon_block:E7-E11 0.593220 736 SLC13A5:boundary_CDS_coverage:after_E1 0.966102 1602 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC14A1 ENST00000321925.9 5 2 2 0 3 10 49 SLC14A1:single_exon:E5 0.200000 129 SLC14A1:exon_block:E4-E8 0.800000 795 SLC14A1:boundary_CDS_coverage:after_E1 1.000000 1167 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC16A1 ENST00000369626.8 24 22 2 1 0 5 19 SLC16A1:single_exon:E4 0.583333 867 SLC16A1:exon_block:E1-E4 0.958333 1434 SLC16A1:boundary_CDS_coverage:after_E1 0.916667 1500 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC16A12 ENST00000371790.5 3 3 0 0 0 8 37 SLC16A12:single_exon:E6 0.666667 580 SLC16A12:exon_block:E5-E6 1.000000 724 SLC16A12:boundary_CDS_coverage:after_E4 1.000000 1244 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC16A13 ENST00000308027.7 1 1 0 0 0 4 13 SLC16A13:single_exon:E1 1.000000 567 SLC16A13:exon_block:E1-E2 1.000000 711 SLC16A13:boundary_CDS_coverage:after_E3 0.000000 197 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC16A2 ENST00000587091.6 112 101 17 1 10 6 25 SLC16A2:single_exon:E1 0.285714 575 SLC16A2:exon_block:E1-E5 0.910714 1544 SLC16A2:boundary_CDS_coverage:after_E1 0.714286 1187 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC17A5 ENST00000355773.6 154 125 55 0 29 11 55 SLC17A5:single_exon:E3 0.162338 234 SLC17A5:exon_block:E2-E6 0.564935 725 SLC17A5:boundary_CDS_coverage:after_E1 0.941558 1391 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC17A8 ENST00000323346.10 5 5 1 0 0 12 61 SLC17A8:single_exon:E5 0.600000 88 SLC17A8:exon_block:E5-E7 0.800000 315 SLC17A8:boundary_CDS_coverage:after_E4 0.800000 1179 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC17A9 ENST00000370351.9 1 1 0 0 0 13 67 SLC17A9:single_exon:E9 1.000000 35 SLC17A9:exon_block:E8-E9 1.000000 123 SLC17A9:boundary_CDS_coverage:after_E8 1.000000 398 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC18A2 ENST00000644641.2 13 10 7 0 3 16 85 SLC18A2:single_exon:E3 0.307692 343 SLC18A2:exon_block:E3-E7 0.538462 669 SLC18A2:boundary_CDS_coverage:after_E1 1.000000 1542 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC18A3 ENST00000374115.5 3 3 0 0 0 1 1 SLC18A3:single_exon:E1 1.000000 2411 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC19A1 ENST00000311124.9 95 1 0 0 0 6 25 SLC19A1:single_exon:E4 0.010526 202 SLC19A1:exon_block:E4-E5 0.010526 344 SLC19A1:boundary_CDS_coverage:after_E3 1.000000 824 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC19A2 ENST00000236137.10 60 53 12 0 7 6 25 SLC19A2:single_exon:E2 0.483333 603 SLC19A2:exon_block:E1-E5 0.983333 1543 SLC19A2:boundary_CDS_coverage:after_E1 0.900000 1287 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC19A3 ENST00000644224.2 77 67 15 0 10 6 25 SLC19A3:single_exon:E3 0.545455 829 SLC19A3:exon_block:E2-E6 0.974026 5127 SLC19A3:boundary_CDS_coverage:after_E1 1.000000 1488 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC1A1 ENST00000262352.8 1 1 0 0 0 12 61 SLC1A1:single_exon:E11 1.000000 135 SLC1A1:exon_block:E10-E11 1.000000 330 SLC1A1:boundary_CDS_coverage:after_E10 1.000000 379 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC1A2 ENST00000278379.9 10 10 1 0 0 11 55 SLC1A2:single_exon:E3 0.300000 153 SLC1A2:exon_block:E3-E7 0.900000 934 SLC1A2:boundary_CDS_coverage:after_E2 1.000000 1565 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC1A3 ENST00000265113.9 2 2 1 0 0 10 49 SLC1A3:single_exon:E5 0.500000 43 SLC1A3:exon_block:E5-E7 1.000000 570 SLC1A3:boundary_CDS_coverage:after_E4 1.000000 1102 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC1A4 ENST00000234256.4 32 25 11 0 7 8 37 SLC1A4:single_exon:E5 0.375000 234 SLC1A4:exon_block:E4-E8 0.718750 3685 SLC1A4:boundary_CDS_coverage:after_E1 0.781250 1069 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC20A2 ENST00000520262.6 84 68 26 0 16 11 55 SLC20A2:single_exon:E8 0.345238 589 SLC20A2:exon_block:E7-E11 0.630952 2557 SLC20A2:boundary_CDS_coverage:after_E1 1.000000 1956 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC22A12 ENST00000377574.6 23 20 5 0 3 10 49 SLC22A12:single_exon:E4 0.173913 169 SLC22A12:exon_block:E1-E5 0.608696 1291 SLC22A12:boundary_CDS_coverage:after_E1 0.826087 1257 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC22A5 ENST00000245407.8 285 241 66 2 42 10 49 SLC22A5:single_exon:E1 0.273684 656 SLC22A5:exon_block:E1-E5 0.663158 1214 SLC22A5:boundary_CDS_coverage:after_E1 0.733333 1278 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC24A1 ENST00000261892.11 44 42 4 0 2 10 49 SLC24A1:single_exon:E2 0.636364 2016 SLC24A1:exon_block:E2-E6 0.772727 2358 SLC24A1:boundary_CDS_coverage:after_E1 1.000000 3297 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC24A4 ENST00000532405.6 5 5 0 0 0 17 91 SLC24A4:single_exon:E7 0.200000 75 SLC24A4:exon_block:E11-E14 0.600000 657 SLC24A4:boundary_CDS_coverage:after_E4 1.000000 1473 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC24A5 ENST00000341459.8 39 30 13 0 9 9 43 SLC24A5:single_exon:E5 0.205128 101 SLC24A5:exon_block:E1-E5 0.615385 645 SLC24A5:boundary_CDS_coverage:after_E1 0.897436 1379 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A1 ENST00000215882.10 24 18 11 0 6 9 43 SLC25A1:single_exon:E6 0.208333 105 SLC25A1:exon_block:E5-E9 0.708333 1044 SLC25A1:boundary_CDS_coverage:after_E1 0.875000 839 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A10 ENST00000350690.10 3 1 2 0 2 11 55 SLC25A10:single_exon:E4 0.333333 49 SLC25A10:exon_block:E3-E4 0.666667 164 SLC25A10:boundary_CDS_coverage:after_E2 1.000000 648 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A11 ENST00000225665.12 5 5 0 0 0 8 37 SLC25A11:single_exon:E6 0.400000 100 SLC25A11:exon_block:E2-E6 1.000000 642 SLC25A11:boundary_CDS_coverage:after_E1 1.000000 847 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A12 ENST00000422440.7 21 17 10 0 4 18 97 SLC25A12:single_exon:E2 0.190476 54 SLC25A12:exon_block:E2-E5 0.380952 453 SLC25A12:boundary_CDS_coverage:after_E1 1.000000 2022 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A13 ENST00000265631.10 213 154 88 0 59 18 97 SLC25A13:single_exon:E16 0.131455 159 SLC25A13:exon_block:E13-E17 0.347418 611 SLC25A13:boundary_CDS_coverage:after_E1 0.995305 2010 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A15 ENST00000338625.9 83 70 20 0 13 7 31 SLC25A15:single_exon:E3 0.301205 259 SLC25A15:exon_block:E2-E6 0.939759 850 SLC25A15:boundary_CDS_coverage:after_E1 1.000000 903 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A16 ENST00000609923.6 1 1 0 0 0 9 43 SLC25A16:single_exon:E8 1.000000 69 SLC25A16:exon_block:E7-E8 1.000000 232 SLC25A16:boundary_CDS_coverage:after_E7 1.000000 223 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A19 ENST00000416858.7 14 13 3 0 1 8 37 SLC25A19:single_exon:E6 0.357143 184 SLC25A19:exon_block:E4-E8 0.928571 1290 SLC25A19:boundary_CDS_coverage:after_E1 1.000000 960 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A20 ENST00000319017.5 75 57 29 0 18 9 43 SLC25A20:single_exon:E3 0.213333 128 SLC25A20:exon_block:E2-E6 0.666667 503 SLC25A20:boundary_CDS_coverage:after_E1 0.946667 798 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A21 ENST00000331299.6 1 1 0 0 0 10 49 SLC25A21:single_exon:E8 1.000000 182 SLC25A21:exon_block:E8-E9 1.000000 235 SLC25A21:boundary_CDS_coverage:after_E7 1.000000 294 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A22 ENST00000628067.3 21 16 11 0 5 10 49 SLC25A22:single_exon:E7 0.285714 175 SLC25A22:exon_block:E5-E9 0.761905 616 SLC25A22:boundary_CDS_coverage:after_E1 1.000000 969 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A24 ENST00000565488.6 3 3 0 0 0 10 49 SLC25A24:single_exon:E5 0.666667 159 SLC25A24:exon_block:E5-E6 1.000000 312 SLC25A24:boundary_CDS_coverage:after_E4 1.000000 921 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A25 ENST00000373069.10 1 1 0 0 0 11 55 SLC25A25:single_exon:E9 1.000000 168 SLC25A25:exon_block:E8-E9 1.000000 276 SLC25A25:boundary_CDS_coverage:after_E8 1.000000 501 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A26 ENST00000354883.11 7 5 5 0 2 10 49 SLC25A26:single_exon:E5 0.285714 48 SLC25A26:exon_block:E1-E5 0.857143 547 SLC25A26:boundary_CDS_coverage:after_E1 1.000000 789 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A3 ENST00000552981.6 12 5 3 0 7 8 37 SLC25A3:single_exon:E5 0.250000 182 SLC25A3:exon_block:E4-E7 0.500000 646 SLC25A3:boundary_CDS_coverage:after_E1 1.000000 1083 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A36 ENST00000324194.12 2 1 1 0 1 7 31 SLC25A36:single_exon:E3 0.500000 78 SLC25A36:exon_block:E3-E7 1.000000 5272 SLC25A36:boundary_CDS_coverage:after_E3 1.000000 649 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A38 ENST00000650617.1 59 48 18 1 10 7 31 SLC25A38:single_exon:E4 0.305085 180 SLC25A38:exon_block:E3-E7 0.881356 1555 SLC25A38:boundary_CDS_coverage:after_E1 0.966102 843 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A4 ENST00000281456.11 23 21 3 0 2 4 13 SLC25A4:single_exon:E2 0.608696 487 SLC25A4:exon_block:E1-E4 0.956522 4415 SLC25A4:boundary_CDS_coverage:after_E1 0.869565 783 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A42 ENST00000318596.8 4 3 1 0 1 8 37 SLC25A42:single_exon:E5 0.500000 167 SLC25A42:exon_block:E5-E8 1.000000 2898 SLC25A42:boundary_CDS_coverage:after_E4 1.000000 741 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC25A46 ENST00000355943.8 35 26 8 0 8 8 37 SLC25A46:single_exon:E8 0.371429 3954 SLC25A46:exon_block:E4-E8 0.714286 4248 SLC25A46:boundary_CDS_coverage:after_E1 0.828571 971 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC26A1 ENST00000398516.3 69 1 0 34 0 3 8 SLC26A1:single_exon:E3 0.507246 2706 SLC26A1:exon_block:E2-E3 0.507246 3309 SLC26A1:boundary_CDS_coverage:after_E2 1.000000 1527 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC26A11 ENST00000361193.8 1 0 0 0 0 18 97 SLC26A11:single_exon:E10 0.000000 51 SLC26A11:exon_block:E10-E11 0.000000 112 SLC26A11:boundary_CDS_coverage:after_E17 0.000000 89 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC26A2 ENST00000286298.5 234 228 9 0 6 3 8 SLC26A2:single_exon:E3 0.662393 7108 SLC26A2:exon_block:E1-E3 1.000000 8054 SLC26A2:boundary_CDS_coverage:after_E1 1.000000 2217 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC26A3 ENST00000340010.10 129 102 47 0 27 21 115 SLC26A3:single_exon:E12 0.093023 96 SLC26A3:exon_block:E12-E16 0.325581 462 SLC26A3:boundary_CDS_coverage:after_E1 1.000000 2292 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC26A4 ENST00000644269.2 631 516 242 0 115 21 115 SLC26A4:single_exon:E10 0.088748 114 SLC26A4:exon_block:E2-E6 0.335975 768 SLC26A4:boundary_CDS_coverage:after_E1 1.000000 2340 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC26A5 ENST00000306312.8 23 17 9 0 6 20 109 SLC26A5:single_exon:E5 0.130435 111 SLC26A5:exon_block:E3-E6 0.391304 623 SLC26A5:boundary_CDS_coverage:after_E1 1.000000 2232 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC26A7 ENST00000276609.8 4 3 2 0 1 19 103 SLC26A7:single_exon:E14 0.500000 138 SLC26A7:exon_block:E14-E15 0.500000 187 SLC26A7:boundary_CDS_coverage:after_E7 1.000000 1090 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC26A8 ENST00000490799.6 3 3 0 0 0 20 109 SLC26A8:single_exon:E3 0.666667 140 SLC26A8:exon_block:E3-E4 0.666667 257 SLC26A8:boundary_CDS_coverage:after_E2 1.000000 2722 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC27A2 ENST00000267842.10 1 1 0 0 0 10 49 SLC27A2:single_exon:E10 1.000000 466 SLC27A2:exon_block:E9-E10 1.000000 597 SLC27A2:boundary_CDS_coverage:after_E9 1.000000 174 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC27A4 ENST00000300456.5 50 37 21 0 13 13 67 SLC27A4:single_exon:E6 0.180000 92 SLC27A4:exon_block:E6-E10 0.580000 677 SLC27A4:boundary_CDS_coverage:after_E1 1.000000 1929 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC29A1 ENST00000371755.9 1 1 0 0 0 13 67 SLC29A1:single_exon:E12 1.000000 200 SLC29A1:exon_block:E11-E12 1.000000 286 SLC29A1:boundary_CDS_coverage:after_E11 1.000000 309 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC29A3 ENST00000373189.6 46 34 16 0 12 6 25 SLC29A3:single_exon:E6 0.369565 1432 SLC29A3:exon_block:E2-E6 0.956522 2204 SLC29A3:boundary_CDS_coverage:after_E1 1.000000 1424 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC2A1 ENST00000426263.10 338 298 87 1 39 10 49 SLC2A1:single_exon:E4 0.201183 241 SLC2A1:exon_block:E3-E7 0.621302 858 SLC2A1:boundary_CDS_coverage:after_E1 0.979290 1458 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC2A10 ENST00000359271.4 54 49 9 0 5 5 19 SLC2A10:single_exon:E2 0.777778 1284 SLC2A10:exon_block:E1-E4 1.000000 1635 SLC2A10:boundary_CDS_coverage:after_E1 0.962963 1619 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC2A2 ENST00000314251.8 57 46 15 0 11 11 55 SLC2A2:single_exon:E6 0.175439 163 SLC2A2:exon_block:E3-E7 0.578947 855 SLC2A2:boundary_CDS_coverage:after_E1 0.947368 1557 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC2A9 ENST00000264784.8 17 13 5 0 4 12 61 SLC2A9:single_exon:E5 0.176471 146 SLC2A9:exon_block:E2-E5 0.470588 531 SLC2A9:boundary_CDS_coverage:after_E1 1.000000 1470 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC30A10 ENST00000366926.4 10 10 0 0 0 4 13 SLC30A10:single_exon:E1 0.800000 757 SLC30A10:exon_block:E1-E4 1.000000 6579 SLC30A10:boundary_CDS_coverage:after_E2 0.200000 737 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC30A2 ENST00000374276.4 5 5 0 0 0 8 37 SLC30A2:single_exon:E5 0.400000 160 SLC30A2:exon_block:E2-E5 1.000000 682 SLC30A2:boundary_CDS_coverage:after_E1 1.000000 1066 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC30A5 ENST00000396591.8 2 2 0 0 0 16 85 SLC30A5:single_exon:E14 0.500000 227 SLC30A5:exon_block:E14-E15 0.500000 356 SLC30A5:boundary_CDS_coverage:after_E8 1.000000 1512 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC30A7 ENST00000357650.9 6 2 1 0 2 11 55 SLC30A7:single_exon:E3 0.166667 114 SLC30A7:exon_block:E1-E5 0.500000 684 SLC30A7:boundary_CDS_coverage:after_E3 0.833333 832 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC30A9 ENST00000264451.12 6 4 2 0 2 18 97 SLC30A9:single_exon:E12 0.166667 40 SLC30A9:exon_block:E9-E12 0.500000 335 SLC30A9:boundary_CDS_coverage:after_E1 0.833333 1595 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC31A1 ENST00000374212.5 2 2 0 0 0 5 19 SLC31A1:single_exon:E4 1.000000 169 SLC31A1:exon_block:E3-E4 1.000000 242 SLC31A1:boundary_CDS_coverage:after_E3 1.000000 368 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC32A1 ENST00000217420.2 6 6 0 0 0 2 4 SLC32A1:single_exon:E2 0.833333 1921 SLC32A1:exon_block:E1-E2 1.000000 2550 SLC32A1:boundary_CDS_coverage:after_E1 0.833333 1185 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC33A1 ENST00000643144.2 10 7 3 0 3 6 25 SLC33A1:single_exon:E1 0.400000 1205 SLC33A1:exon_block:E1-E5 1.000000 1912 SLC33A1:boundary_CDS_coverage:after_E2 0.600000 684 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC34A1 ENST00000324417.6 56 45 15 0 10 13 67 SLC34A1:single_exon:E7 0.142857 196 SLC34A1:exon_block:E3-E7 0.500000 731 SLC34A1:boundary_CDS_coverage:after_E1 1.000000 1917 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC34A2 ENST00000382051.8 19 13 10 0 5 13 67 SLC34A2:single_exon:E8 0.210526 96 SLC34A2:exon_block:E8-E12 0.473684 627 SLC34A2:boundary_CDS_coverage:after_E2 0.947368 1958 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC34A3 ENST00000673835.1 96 64 32 0 32 13 67 SLC34A3:single_exon:E13 0.218750 604 SLC34A3:exon_block:E9-E13 0.562500 1093 SLC34A3:boundary_CDS_coverage:after_E1 1.000000 1797 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC35A1 ENST00000369552.9 4 4 0 0 0 8 37 SLC35A1:single_exon:E4 0.500000 153 SLC35A1:exon_block:E3-E6 1.000000 557 SLC35A1:boundary_CDS_coverage:after_E2 1.000000 817 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC35A2 ENST00000247138.11 56 51 6 0 4 5 19 SLC35A2:single_exon:E4 0.535714 737 SLC35A2:exon_block:E1-E4 0.946429 1173 SLC35A2:boundary_CDS_coverage:after_E1 0.892857 1097 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC35A3 ENST00000533028.8 50 41 15 0 9 8 37 SLC35A3:single_exon:E5 0.300000 169 SLC35A3:exon_block:E3-E7 0.860000 700 SLC35A3:boundary_CDS_coverage:after_E1 1.000000 975 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC35B2 ENST00000393812.4 3 3 0 0 0 4 13 SLC35B2:single_exon:E4 1.000000 1544 SLC35B2:exon_block:E3-E4 1.000000 1699 SLC35B2:boundary_CDS_coverage:after_E3 1.000000 936 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC35C1 ENST00000314134.4 10 10 0 0 0 2 4 SLC35C1:single_exon:E1 0.500000 1188 SLC35C1:exon_block:E1-E2 1.000000 3429 SLC35C1:boundary_CDS_coverage:after_E1 0.500000 557 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC35D1 ENST00000235345.6 15 10 7 0 5 12 61 SLC35D1:single_exon:E1 0.200000 338 SLC35D1:exon_block:E3-E7 0.400000 399 SLC35D1:boundary_CDS_coverage:after_E2 0.800000 828 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC38A3 ENST00000614032.5 7 5 3 0 2 16 85 SLC38A3:single_exon:E13 0.428571 125 SLC38A3:exon_block:E10-E14 0.857143 616 SLC38A3:boundary_CDS_coverage:after_E3 1.000000 1329 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC38A8 ENST00000299709.8 71 49 30 0 22 11 55 SLC38A8:single_exon:E8 0.197183 148 SLC38A8:exon_block:E4-E8 0.619718 565 SLC38A8:boundary_CDS_coverage:after_E1 1.000000 1305 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC39A13 ENST00000362021.9 2 2 0 0 0 10 49 SLC39A13:single_exon:E5 0.500000 108 SLC39A13:exon_block:E4-E5 1.000000 230 SLC39A13:boundary_CDS_coverage:after_E3 1.000000 698 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC39A14 ENST00000381237.6 13 9 5 0 4 9 43 SLC39A14:single_exon:E3 0.153846 187 SLC39A14:exon_block:E5-E9 0.538462 3890 SLC39A14:boundary_CDS_coverage:after_E1 1.000000 1476 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC39A4 ENST00000301305.8 146 110 40 0 36 12 61 SLC39A4:single_exon:E2 0.157534 282 SLC39A4:exon_block:E2-E6 0.500000 957 SLC39A4:boundary_CDS_coverage:after_E1 0.904110 1749 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC39A5 ENST00000454355.7 4 4 0 0 0 13 67 SLC39A5:single_exon:E8 0.500000 141 SLC39A5:exon_block:E4-E8 1.000000 1016 SLC39A5:boundary_CDS_coverage:after_E1 1.000000 1620 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC39A7 ENST00000374677.8 6 6 0 0 0 7 31 SLC39A7:single_exon:E6 0.333333 197 SLC39A7:exon_block:E2-E6 0.833333 726 SLC39A7:boundary_CDS_coverage:after_E1 0.833333 996 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC39A8 ENST00000356736.5 9 9 1 0 0 9 43 SLC39A8:single_exon:E7 0.333333 208 SLC39A8:exon_block:E3-E7 0.666667 829 SLC39A8:boundary_CDS_coverage:after_E1 1.000000 1380 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC3A1 ENST00000260649.11 133 110 31 0 22 10 49 SLC3A1:single_exon:E10 0.180451 1296 SLC3A1:exon_block:E6-E10 0.609023 1902 SLC3A1:boundary_CDS_coverage:after_E1 0.932331 1625 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC40A1 ENST00000261024.7 42 41 3 1 0 8 37 SLC40A1:single_exon:E6 0.333333 246 SLC40A1:exon_block:E3-E7 0.880952 1291 SLC40A1:boundary_CDS_coverage:after_E2 0.976190 1602 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC41A1 ENST00000367137.4 1 1 1 0 0 11 55 SLC41A1:single_exon:E6 1.000000 147 SLC41A1:exon_block:E5-E6 1.000000 292 SLC41A1:boundary_CDS_coverage:after_E5 1.000000 842 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC44A1 ENST00000374720.8 5 5 0 0 0 16 85 SLC44A1:single_exon:E9 0.400000 187 SLC44A1:exon_block:E6-E9 0.600000 587 SLC44A1:boundary_CDS_coverage:after_E3 1.000000 1702 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC45A1 ENST00000471889.7 1 1 0 0 0 9 43 SLC45A1:single_exon:E4 1.000000 225 SLC45A1:exon_block:E3-E4 1.000000 318 SLC45A1:boundary_CDS_coverage:after_E3 1.000000 1754 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC45A2 ENST00000296589.9 112 101 15 0 10 7 31 SLC45A2:single_exon:E1 0.285714 495 SLC45A2:exon_block:E1-E5 0.732143 1266 SLC45A2:boundary_CDS_coverage:after_E1 0.714286 1205 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC46A1 ENST00000612814.5 26 23 4 0 3 5 19 SLC46A1:single_exon:E2 0.423077 853 SLC46A1:exon_block:E1-E4 1.000000 1420 SLC46A1:boundary_CDS_coverage:after_E1 0.730769 1149 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC49A3 ENST00000322224.9 1 0 0 0 0 10 49 SLC49A3:single_exon:E4 0.000000 77 SLC49A3:exon_block:E4-E5 0.000000 215 SLC49A3:boundary_CDS_coverage:after_E9 1.000000 416 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC4A1 ENST00000262418.12 234 195 62 0 39 20 109 SLC4A1:single_exon:E17 0.119658 254 SLC4A1:exon_block:E14-E18 0.410256 855 SLC4A1:boundary_CDS_coverage:after_E2 1.000000 2718 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC4A10 ENST00000446997.6 13 9 4 0 4 27 150 SLC4A10:single_exon:E17 0.153846 162 SLC4A10:exon_block:E6-E9 0.307692 529 SLC4A10:boundary_CDS_coverage:after_E4 1.000000 2938 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC4A11 ENST00000642402.1 179 136 57 0 43 20 109 SLC4A11:single_exon:E19 0.083799 170 SLC4A11:exon_block:E15-E19 0.329609 816 SLC4A11:boundary_CDS_coverage:after_E1 1.000000 2582 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC4A2 ENST00000413384.7 3 3 0 0 0 23 127 SLC4A2:single_exon:E5 0.333333 119 SLC4A2:exon_block:E12-E14 0.666667 627 SLC4A2:boundary_CDS_coverage:after_E4 1.000000 3264 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC4A3 ENST00000358055.8 2 2 0 0 0 23 127 SLC4A3:single_exon:E8 1.000000 181 SLC4A3:exon_block:E8-E9 1.000000 317 SLC4A3:boundary_CDS_coverage:after_E7 1.000000 2736 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC4A4 ENST00000264485.11 17 13 3 1 3 26 144 SLC4A4:single_exon:E8 0.176471 158 SLC4A4:exon_block:E6-E10 0.411765 658 SLC4A4:boundary_CDS_coverage:after_E2 1.000000 3164 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC51A ENST00000296327.10 1 1 0 0 0 9 43 SLC51A:single_exon:E6 1.000000 112 SLC51A:exon_block:E6-E7 1.000000 259 SLC51A:boundary_CDS_coverage:after_E5 1.000000 499 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC51B ENST00000334287.3 1 1 0 0 0 4 13 SLC51B:single_exon:E2 1.000000 205 SLC51B:exon_block:E2-E3 1.000000 296 SLC51B:boundary_CDS_coverage:after_E1 1.000000 384 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC52A1 ENST00000254853.10 1 1 0 0 0 5 19 SLC52A1:single_exon:E2 1.000000 237 SLC52A1:exon_block:E1-E2 1.000000 803 SLC52A1:boundary_CDS_coverage:after_E1 1.000000 1344 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC52A2 ENST00000643944.2 42 41 2 0 1 5 19 SLC52A2:single_exon:E3 0.690476 871 SLC52A2:exon_block:E2-E5 1.000000 1705 SLC52A2:boundary_CDS_coverage:after_E1 1.000000 1335 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC52A3 ENST00000645534.1 30 29 2 0 1 5 19 SLC52A3:single_exon:E2 0.400000 618 SLC52A3:exon_block:E2-E5 1.000000 2407 SLC52A3:boundary_CDS_coverage:after_E1 1.000000 1407 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC5A1 ENST00000266088.9 44 35 14 0 9 15 79 SLC5A1:single_exon:E8 0.227273 221 SLC5A1:exon_block:E8-E12 0.500000 785 SLC5A1:boundary_CDS_coverage:after_E1 0.954545 1857 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC5A2 ENST00000330498.4 43 35 12 0 8 14 73 SLC5A2:single_exon:E11 0.232558 169 SLC5A2:exon_block:E9-E13 0.627907 771 SLC5A2:boundary_CDS_coverage:after_E1 1.000000 1890 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC5A5 ENST00000222248.4 50 32 19 0 18 15 79 SLC5A5:single_exon:E1 0.140000 732 SLC5A5:exon_block:E9-E13 0.360000 593 SLC5A5:boundary_CDS_coverage:after_E1 0.880000 1572 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC5A6 ENST00000310574.8 13 9 5 0 4 17 91 SLC5A6:single_exon:E3 0.230769 533 SLC5A6:exon_block:E3-E4 0.384615 599 SLC5A6:boundary_CDS_coverage:after_E1 1.000000 1905 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC5A7 ENST00000264047.3 19 13 6 0 6 9 43 SLC5A7:single_exon:E2 0.263158 229 SLC5A7:exon_block:E6-E9 0.578947 4279 SLC5A7:boundary_CDS_coverage:after_E1 1.000000 1740 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC66A1 ENST00000375153.8 1 0 1 0 1 8 37 SLC66A1:single_exon:E6 1.000000 93 SLC66A1:exon_block:E5-E6 1.000000 236 SLC66A1:boundary_CDS_coverage:after_E6 1.000000 255 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A1 ENST00000287766.10 188 161 54 1 26 16 85 SLC6A1:single_exon:E3 0.159574 391 SLC6A1:exon_block:E3-E7 0.420213 867 SLC6A1:boundary_CDS_coverage:after_E1 1.000000 1797 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A13 ENST00000343164.9 1 0 1 0 1 15 79 SLC6A13:single_exon:E5 1.000000 85 SLC6A13:exon_block:E5-E6 1.000000 218 SLC6A13:boundary_CDS_coverage:after_E5 1.000000 1243 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A17 ENST00000331565.5 2 2 0 0 0 12 61 SLC6A17:single_exon:E4 0.500000 127 SLC6A17:exon_block:E3-E4 0.500000 285 SLC6A17:boundary_CDS_coverage:after_E3 1.000000 1737 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A19 ENST00000304460.11 41 33 11 0 8 12 61 SLC6A19:single_exon:E5 0.146341 111 SLC6A19:exon_block:E4-E8 0.560976 692 SLC6A19:boundary_CDS_coverage:after_E1 0.926829 1700 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A2 ENST00000568943.6 1 1 0 0 0 15 79 SLC6A2:single_exon:E10 1.000000 129 SLC6A2:exon_block:E10-E11 1.000000 229 SLC6A2:boundary_CDS_coverage:after_E9 1.000000 591 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A3 ENST00000270349.12 18 12 10 0 6 15 79 SLC6A3:single_exon:E13 0.277778 168 SLC6A3:exon_block:E9-E13 0.555556 611 SLC6A3:boundary_CDS_coverage:after_E1 1.000000 1860 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A4 ENST00000650711.1 1 1 0 0 0 15 79 SLC6A4:single_exon:E14 1.000000 168 SLC6A4:exon_block:E13-E14 1.000000 269 SLC6A4:boundary_CDS_coverage:after_E13 1.000000 240 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A5 ENST00000525748.6 67 51 28 0 16 16 85 SLC6A5:single_exon:E4 0.134328 132 SLC6A5:exon_block:E1-E5 0.402985 1050 SLC6A5:boundary_CDS_coverage:after_E1 1.000000 2388 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A6 ENST00000622186.5 3 3 1 0 0 15 79 SLC6A6:single_exon:E10 0.333333 113 SLC6A6:exon_block:E7-E10 0.666667 477 SLC6A6:boundary_CDS_coverage:after_E3 1.000000 1631 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A8 ENST00000253122.10 188 157 51 1 30 13 67 SLC6A8:single_exon:E3 0.127660 250 SLC6A8:exon_block:E6-E10 0.441489 583 SLC6A8:boundary_CDS_coverage:after_E1 0.920213 1643 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC6A9 ENST00000372310.8 12 7 2 0 5 14 73 SLC6A9:single_exon:E12 0.250000 101 SLC6A9:exon_block:E8-E12 0.416667 678 SLC6A9:boundary_CDS_coverage:after_E2 1.000000 1869 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC7A14 ENST00000231706.6 4 4 0 0 0 8 37 SLC7A14:single_exon:E7 0.500000 878 SLC7A14:exon_block:E3-E7 0.750000 1689 SLC7A14:boundary_CDS_coverage:after_E2 1.000000 2009 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC7A7 ENST00000674313.1 155 128 45 0 26 10 49 SLC7A7:single_exon:E2 0.283871 541 SLC7A7:exon_block:E2-E6 0.632258 1040 SLC7A7:boundary_CDS_coverage:after_E1 1.000000 1533 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC7A8 ENST00000316902.12 3 2 1 0 1 11 55 SLC7A8:single_exon:E8 0.333333 97 SLC7A8:exon_block:E5-E8 1.000000 479 SLC7A8:boundary_CDS_coverage:after_E4 1.000000 971 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC7A9 ENST00000023064.9 84 69 28 0 15 13 67 SLC7A9:single_exon:E4 0.178571 243 SLC7A9:exon_block:E3-E7 0.535714 662 SLC7A9:boundary_CDS_coverage:after_E1 1.000000 1461 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC9A1 ENST00000263980.8 6 6 0 0 0 12 61 SLC9A1:single_exon:E3 0.666667 251 SLC9A1:exon_block:E2-E5 1.000000 1133 SLC9A1:boundary_CDS_coverage:after_E1 1.000000 2093 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC9A3 ENST00000264938.8 24 17 9 0 7 17 91 SLC9A3:single_exon:E5 0.208333 178 SLC9A3:exon_block:E4-E8 0.666667 771 SLC9A3:boundary_CDS_coverage:after_E1 0.958333 2291 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC9A6 ENST00000630721.3 65 47 28 0 18 18 97 SLC9A6:single_exon:E7 0.123077 106 SLC9A6:exon_block:E5-E9 0.415385 544 SLC9A6:boundary_CDS_coverage:after_E1 1.000000 2037 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC9A7 ENST00000616978.5 2 1 1 0 1 17 91 SLC9A7:single_exon:E8 0.500000 106 SLC9A7:exon_block:E8-E12 1.000000 575 SLC9A7:boundary_CDS_coverage:after_E8 1.000000 1031 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC9A9 ENST00000316549.11 2 2 0 0 0 16 85 SLC9A9:single_exon:E5 0.500000 116 SLC9A9:exon_block:E4-E5 0.500000 193 SLC9A9:boundary_CDS_coverage:after_E4 1.000000 1402 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLC9B1 ENST00000296422.12 3 1 1 0 0 12 61 SLC9B1:single_exon:E12 0.333333 405 SLC9B1:exon_block:E11-E12 0.333333 542 SLC9B1:boundary_CDS_coverage:after_E11 1.000000 213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLCO1B1 ENST00000256958.3 7 4 4 0 3 15 79 SLCO1B1:single_exon:E13 0.142857 65 SLCO1B1:exon_block:E11-E14 0.571429 534 SLCO1B1:boundary_CDS_coverage:after_E3 1.000000 1847 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLCO1B3 ENST00000381545.8 6 1 5 0 5 16 85 SLCO1B3:single_exon:E10 0.333333 165 SLCO1B3:exon_block:E6-E10 0.666667 776 SLCO1B3:boundary_CDS_coverage:after_E6 1.000000 1625 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLCO2A1 ENST00000310926.11 61 50 20 0 10 14 73 SLCO2A1:single_exon:E6 0.163934 137 SLCO2A1:exon_block:E5-E9 0.475410 670 SLCO2A1:boundary_CDS_coverage:after_E1 0.983607 1833 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLF2 ENST00000238961.9 6 6 1 0 0 20 109 SLF2:single_exon:E5 0.333333 998 SLF2:exon_block:E9-E12 0.500000 424 SLF2:boundary_CDS_coverage:after_E2 1.000000 3335 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLFN11 ENST00000685675.1 1 1 0 0 0 7 31 SLFN11:single_exon:E7 1.000000 2835 SLFN11:exon_block:E6-E7 1.000000 3559 SLFN11:boundary_CDS_coverage:after_E6 1.000000 781 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLFN14 ENST00000674182.1 4 4 0 0 0 6 25 SLFN14:single_exon:E3 1.000000 1104 SLFN14:exon_block:E2-E3 1.000000 1183 SLFN14:boundary_CDS_coverage:after_E1 1.000000 2736 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLIT1 ENST00000266058.9 1 1 0 0 0 37 211 SLIT1:single_exon:E21 1.000000 133 SLIT1:exon_block:E21-E22 1.000000 202 SLIT1:boundary_CDS_coverage:after_E20 1.000000 2438 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLIT2 ENST00000504154.6 2 2 0 0 0 37 211 SLIT2:single_exon:E3 0.500000 72 SLIT2:exon_block:E2-E3 0.500000 144 SLIT2:boundary_CDS_coverage:after_E2 1.000000 4336 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLIT3 ENST00000519560.6 1 1 0 0 0 36 205 SLIT3:single_exon:E15 1.000000 151 SLIT3:exon_block:E15-E16 1.000000 226 SLIT3:boundary_CDS_coverage:after_E14 1.000000 3110 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLITRK1 ENST00000674365.1 2 1 0 1 0 2 4 SLITRK1:single_exon:E2 1.000000 4356 SLITRK1:exon_block:E1-E2 1.000000 4827 SLITRK1:boundary_CDS_coverage:after_E1 1.000000 2088 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLITRK2 ENST00000335565.6 5 5 0 0 0 5 19 SLITRK2:single_exon:E5 1.000000 7474 SLITRK2:exon_block:E4-E5 1.000000 7623 SLITRK2:boundary_CDS_coverage:after_E1 1.000000 2535 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLITRK3 ENST00000475390.2 1 1 0 0 0 2 4 SLITRK3:single_exon:E2 1.000000 4132 SLITRK3:exon_block:E1-E2 1.000000 4937 SLITRK3:boundary_CDS_coverage:after_E1 1.000000 2931 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLITRK5 ENST00000683689.1 1 1 0 0 0 2 4 SLITRK5:single_exon:E2 1.000000 4236 SLITRK5:exon_block:E1-E2 1.000000 5075 SLITRK5:boundary_CDS_coverage:after_E1 1.000000 2874 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLITRK6 ENST00000647374.2 9 9 0 0 0 2 4 SLITRK6:single_exon:E2 1.000000 3743 SLITRK6:exon_block:E1-E2 1.000000 4249 SLITRK6:boundary_CDS_coverage:after_E1 1.000000 2523 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLK ENST00000369755.4 1 1 0 0 0 19 103 SLK:single_exon:E9 1.000000 1356 SLK:exon_block:E8-E9 1.000000 1485 SLK:boundary_CDS_coverage:after_E8 1.000000 2712 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLPI ENST00000338380.2 1 0 1 0 1 4 13 SLPI:single_exon:E3 1.000000 150 SLPI:exon_block:E2-E3 1.000000 309 SLPI:boundary_CDS_coverage:after_E3 1.000000 2 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLTM ENST00000380516.7 1 1 0 0 0 21 115 SLTM:single_exon:E18 1.000000 315 SLTM:exon_block:E18-E19 1.000000 460 SLTM:boundary_CDS_coverage:after_E17 1.000000 727 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLURP1 ENST00000246515.2 14 12 3 0 2 3 8 SLURP1:single_exon:E3 0.500000 328 SLURP1:exon_block:E1-E3 1.000000 527 SLURP1:boundary_CDS_coverage:after_E1 0.857143 251 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SLX4 ENST00000294008.4 153 136 19 0 17 15 79 SLX4:single_exon:E12 0.398693 2309 SLX4:exon_block:E10-E14 0.581699 3140 SLX4:boundary_CDS_coverage:after_E1 1.000000 5502 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMAD2 ENST00000262160.11 38 31 8 0 7 11 55 SMAD2:single_exon:E8 0.263158 213 SMAD2:exon_block:E4-E8 0.631579 671 SMAD2:boundary_CDS_coverage:after_E1 1.000000 1401 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMAD3 ENST00000327367.9 200 176 44 0 24 9 43 SMAD3:single_exon:E6 0.270000 213 SMAD3:exon_block:E5-E9 0.610000 5304 SMAD3:boundary_CDS_coverage:after_E1 0.885000 1069 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMAD4 ENST00000342988.8 300 264 62 1 35 12 61 SMAD4:single_exon:E10 0.143333 169 SMAD4:exon_block:E8-E12 0.533333 7330 SMAD4:boundary_CDS_coverage:after_E1 1.000000 1656 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMAD6 ENST00000288840.10 82 81 10 0 1 4 13 SMAD6:single_exon:E1 0.585366 1840 SMAD6:exon_block:E1-E4 1.000000 3828 SMAD6:boundary_CDS_coverage:after_E1 0.426829 671 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMAD9 ENST00000379826.5 28 26 3 0 2 7 31 SMAD9:single_exon:E2 0.392857 598 SMAD9:exon_block:E2-E6 1.000000 1446 SMAD9:boundary_CDS_coverage:after_E1 1.000000 1401 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMAP1 ENST00000370455.8 1 0 1 0 1 11 55 SMAP1:single_exon:E7 1.000000 88 SMAP1:exon_block:E6-E7 1.000000 169 SMAP1:boundary_CDS_coverage:after_E6 1.000000 825 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCA1 ENST00000371121.5 14 14 1 0 0 25 139 SMARCA1:single_exon:E5 0.142857 101 SMARCA1:exon_block:E2-E6 0.500000 636 SMARCA1:boundary_CDS_coverage:after_E1 0.928571 3036 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCA2 ENST00000349721.8 121 120 17 0 1 34 193 SMARCA2:single_exon:E25 0.247934 228 SMARCA2:exon_block:E23-E27 0.462810 856 SMARCA2:boundary_CDS_coverage:after_E3 1.000000 4415 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCA4 ENST00000344626.10 321 265 91 0 56 35 199 SMARCA4:single_exon:E19 0.102804 243 SMARCA4:exon_block:E15-E19 0.227414 736 SMARCA4:boundary_CDS_coverage:after_E1 1.000000 4941 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCA5 ENST00000283131.4 9 8 2 0 1 24 133 SMARCA5:single_exon:E7 0.333333 156 SMARCA5:exon_block:E6-E8 0.666667 468 SMARCA5:boundary_CDS_coverage:after_E5 1.000000 2535 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCAD1 ENST00000354268.9 7 0 0 0 7 24 133 SMARCAD1:single_exon:E13 0.000000 60 SMARCAD1:exon_block:E13-E14 0.000000 136 SMARCAD1:boundary_CDS_coverage:after_E9 1.000000 1797 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCAL1 ENST00000357276.9 163 142 37 0 21 18 97 SMARCAL1:single_exon:E3 0.239264 869 SMARCAL1:exon_block:E3-E7 0.447853 1392 SMARCAL1:boundary_CDS_coverage:after_E1 1.000000 2862 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCB1 ENST00000644036.2 113 84 36 2 27 9 43 SMARCB1:single_exon:E2 0.176991 139 SMARCB1:exon_block:E4-E8 0.557522 756 SMARCB1:boundary_CDS_coverage:after_E1 0.911504 1062 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCC1 ENST00000254480.10 12 12 1 0 0 28 157 SMARCC1:single_exon:E17 0.250000 154 SMARCC1:exon_block:E13-E17 0.416667 500 SMARCC1:boundary_CDS_coverage:after_E3 1.000000 2914 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCC2 ENST00000550164.6 55 39 26 0 16 29 163 SMARCC2:single_exon:E20 0.090909 63 SMARCC2:exon_block:E23-E27 0.272727 885 SMARCC2:boundary_CDS_coverage:after_E1 0.981818 3624 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCD1 ENST00000394963.9 9 9 1 0 0 13 67 SMARCD1:single_exon:E12 0.333333 102 SMARCD1:exon_block:E8-E12 0.777778 621 SMARCD1:boundary_CDS_coverage:after_E4 1.000000 1014 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCD2 ENST00000448276.7 28 20 15 0 8 13 67 SMARCD2:single_exon:E5 0.178571 156 SMARCD2:exon_block:E2-E6 0.571429 603 SMARCD2:boundary_CDS_coverage:after_E1 1.000000 1377 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMARCE1 ENST00000348513.12 76 62 22 0 14 11 55 SMARCE1:single_exon:E6 0.236842 132 SMARCE1:exon_block:E5-E9 0.855263 660 SMARCE1:boundary_CDS_coverage:after_E2 1.000000 1226 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMC1A ENST00000322213.9 219 196 48 0 23 25 139 SMC1A:single_exon:E15 0.073059 107 SMC1A:exon_block:E9-E13 0.283105 859 SMC1A:boundary_CDS_coverage:after_E1 0.977169 3590 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMC1B ENST00000357450.9 1 1 1 0 0 25 139 SMC1B:single_exon:E6 1.000000 259 SMC1B:exon_block:E6-E7 1.000000 400 SMC1B:boundary_CDS_coverage:after_E5 1.000000 2851 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMC3 ENST00000361804.5 79 75 19 0 4 29 163 SMC3:single_exon:E19 0.113924 153 SMC3:exon_block:E15-E19 0.341772 707 SMC3:boundary_CDS_coverage:after_E2 1.000000 3560 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMC5 ENST00000361138.7 3 3 0 0 0 25 139 SMC5:single_exon:E9 0.666667 256 SMC5:exon_block:E8-E9 0.666667 328 SMC5:boundary_CDS_coverage:after_E8 1.000000 2250 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMCHD1 ENST00000320876.11 140 112 49 0 28 48 277 SMCHD1:single_exon:E3 0.085714 162 SMCHD1:exon_block:E10-E14 0.228571 825 SMCHD1:boundary_CDS_coverage:after_E1 0.957143 5829 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMG8 ENST00000300917.10 11 11 0 0 0 4 13 SMG8:single_exon:E1 0.818182 1776 SMG8:exon_block:E1-E3 1.000000 2795 SMG8:boundary_CDS_coverage:after_E2 0.181818 1068 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMG9 ENST00000270066.11 12 12 1 0 0 14 73 SMG9:single_exon:E5 0.166667 98 SMG9:exon_block:E3-E7 0.583333 663 SMG9:boundary_CDS_coverage:after_E1 1.000000 1560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMN1 ENST00000380707.9 79 59 29 0 19 9 42 SMN1:single_exon:E4 0.227848 201 SMN1:exon_block:E4-E8 0.734177 615 SMN1:boundary_CDS_coverage:after_E1 0.911392 801 repeat_or_mechanism_complex_replacement_case mechanism_complex limitation_panel repeat/noncoding/mechanism-complex biology limits VCF-based interpretation pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMO ENST00000249373.8 11 11 1 0 0 12 61 SMO:single_exon:E10 0.272727 149 SMO:exon_block:E6-E10 0.727273 661 SMO:boundary_CDS_coverage:after_E3 1.000000 1614 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMOC1 ENST00000361956.8 18 14 8 0 4 12 61 SMOC1:single_exon:E8 0.277778 193 SMOC1:exon_block:E4-E8 0.611111 479 SMOC1:boundary_CDS_coverage:after_E1 1.000000 1206 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMOC2 ENST00000356284.7 4 3 2 0 1 13 67 SMOC2:single_exon:E1 0.500000 271 SMOC2:exon_block:E1-E2 0.500000 443 SMOC2:boundary_CDS_coverage:after_E1 0.750000 1254 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMPD1 ENST00000342245.9 386 359 51 0 26 6 25 SMPD1:single_exon:E2 0.391192 773 SMPD1:exon_block:E2-E6 0.865285 1967 SMPD1:boundary_CDS_coverage:after_E1 0.878238 1575 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMPD4 ENST00000680298.1 29 19 11 2 8 20 109 SMPD4:single_exon:E5 0.103448 76 SMPD4:exon_block:E15-E19 0.448276 865 SMPD4:boundary_CDS_coverage:after_E1 0.965517 2481 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMPX ENST00000379494.4 23 18 9 1 4 5 18 SMPX:single_exon:E3 0.434783 87 SMPX:exon_block:E2-E4 1.000000 293 SMPX:boundary_CDS_coverage:after_E1 1.000000 264 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SMS ENST00000404933.7 31 27 9 0 4 11 55 SMS:single_exon:E5 0.258065 176 SMS:exon_block:E5-E9 0.709677 616 SMS:boundary_CDS_coverage:after_E1 1.000000 1049 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNAP25 ENST00000254976.7 26 23 9 0 3 8 37 SNAP25:single_exon:E7 0.307692 145 SNAP25:exon_block:E4-E8 0.846154 1728 SNAP25:boundary_CDS_coverage:after_E2 1.000000 546 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNAP29 ENST00000215730.12 22 18 8 0 4 5 19 SNAP29:single_exon:E2 0.363636 197 SNAP29:exon_block:E1-E5 1.000000 4259 SNAP29:boundary_CDS_coverage:after_E1 0.636364 537 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNAPC4 ENST00000684778.1 11 6 7 0 5 24 132 SNAPC4:single_exon:E15 0.272727 80 SNAPC4:exon_block:E12-E15 0.454545 377 SNAPC4:boundary_CDS_coverage:after_E5 1.000000 3936 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNAPIN ENST00000368685.6 5 4 2 0 1 4 13 SNAPIN:single_exon:E2 0.600000 47 SNAPIN:exon_block:E1-E2 1.000000 231 SNAPIN:boundary_CDS_coverage:after_E1 0.600000 265 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNCA ENST00000394991.8 5 5 2 0 0 6 25 SNCA:single_exon:E3 0.800000 42 SNCA:exon_block:E2-E3 1.000000 188 SNCA:boundary_CDS_coverage:after_E1 1.000000 420 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNCB ENST00000393693.7 1 1 0 0 0 6 25 SNCB:single_exon:E4 1.000000 119 SNCB:exon_block:E3-E4 1.000000 161 SNCB:boundary_CDS_coverage:after_E3 1.000000 239 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNF8 ENST00000502492.6 6 5 3 0 1 8 37 SNF8:single_exon:E7 0.333333 75 SNF8:exon_block:E3-E7 0.833333 534 SNF8:boundary_CDS_coverage:after_E2 1.000000 669 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNIP1 ENST00000296215.8 1 1 0 0 0 4 13 SNIP1:single_exon:E3 1.000000 599 SNIP1:exon_block:E2-E3 1.000000 702 SNIP1:boundary_CDS_coverage:after_E2 1.000000 861 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNORD118 ENST00000363593.2 28 0 9 0 0 1 1 SNORD118:single_exon:E1 0.821429 137 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNRNP200 ENST00000323853.10 17 17 7 0 0 45 259 SNRNP200:single_exon:E16 0.352941 124 SNRNP200:exon_block:E13-E16 0.529412 645 SNRNP200:boundary_CDS_coverage:after_E10 1.000000 5205 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNRPA ENST00000243563.8 2 2 0 0 0 6 25 SNRPA:single_exon:E2 1.000000 173 SNRPA:exon_block:E2-E3 1.000000 353 SNRPA:boundary_CDS_coverage:after_E1 1.000000 773 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNRPB ENST00000381342.7 9 2 2 1 6 7 31 SNRPB:single_exon:E6 0.222222 126 SNRPB:exon_block:E2-E6 0.444444 682 SNRPB:boundary_CDS_coverage:after_E1 0.888889 690 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNRPE ENST00000414487.7 4 3 2 0 1 5 19 SNRPE:single_exon:E3 0.250000 63 SNRPE:exon_block:E1-E5 1.000000 1560 SNRPE:boundary_CDS_coverage:after_E1 1.000000 222 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNRPN ENST00000390687.9 1 0 0 0 0 10 49 SNRPN:single_exon:E1 0.000000 76 SNRPN:exon_block:E1-E2 0.000000 172 SNRPN:boundary_CDS_coverage:after_E9 0.000000 35 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNUPN ENST00000308588.10 2 2 0 0 0 9 43 SNUPN:single_exon:E9 1.000000 596 SNUPN:exon_block:E8-E9 1.000000 677 SNUPN:boundary_CDS_coverage:after_E8 1.000000 321 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNURF ENST00000577949.6 1 0 0 0 0 3 8 SNURF:single_exon:E1 0.000000 76 SNURF:exon_block:E1-E2 0.000000 172 SNURF:boundary_CDS_coverage:after_E2 0.000000 103 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNW1 ENST00000261531.12 1 1 0 0 0 14 73 SNW1:single_exon:E3 1.000000 162 SNW1:exon_block:E3-E4 1.000000 258 SNW1:boundary_CDS_coverage:after_E2 1.000000 1440 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNX10 ENST00000338523.9 21 16 6 0 5 7 31 SNX10:single_exon:E3 0.285714 87 SNX10:exon_block:E2-E6 1.000000 547 SNX10:boundary_CDS_coverage:after_E1 1.000000 603 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNX14 ENST00000314673.8 45 27 25 0 18 29 163 SNX14:single_exon:E18 0.133333 202 SNX14:exon_block:E15-E19 0.355556 505 SNX14:boundary_CDS_coverage:after_E1 0.955556 2698 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNX22 ENST00000325881.9 10 0 0 10 0 7 31 SNX22:single_exon:E7 1.000000 3095 SNX22:exon_block:E6-E7 1.000000 3163 SNX22:boundary_CDS_coverage:after_E6 1.000000 119 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SNX27 ENST00000458013.7 18 17 4 0 1 12 61 SNX27:single_exon:E10 0.222222 129 SNX27:exon_block:E6-E10 0.611111 612 SNX27:boundary_CDS_coverage:after_E2 0.944444 1080 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOCS1 ENST00000332029.4 13 13 0 0 0 2 4 SOCS1:single_exon:E2 1.000000 1112 SOCS1:exon_block:E1-E2 1.000000 1238 SOCS1:boundary_CDS_coverage:after_E1 1.000000 633 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOD1 ENST00000270142.11 132 128 17 0 4 5 19 SOD1:single_exon:E5 0.325758 461 SOD1:exon_block:E1-E5 0.984848 895 SOD1:boundary_CDS_coverage:after_E1 0.818182 390 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOHLH1 ENST00000425225.2 5 5 0 0 0 8 37 SOHLH1:single_exon:E6 0.400000 214 SOHLH1:exon_block:E3-E6 0.800000 678 SOHLH1:boundary_CDS_coverage:after_E2 0.800000 964 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SON ENST00000356577.10 148 143 5 0 4 12 61 SON:single_exon:E3 0.885135 5916 SON:exon_block:E1-E4 0.959459 6376 SON:boundary_CDS_coverage:after_E1 0.972973 7201 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SORCS1 ENST00000263054.11 1 0 0 0 1 26 145 SORCS1:single_exon:E6 0.000000 65 SORCS1:exon_block:E5-E6 0.000000 139 SORCS1:boundary_CDS_coverage:after_E25 1.000000 133 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SORD ENST00000267814.14 11 10 4 0 1 9 43 SORD:single_exon:E8 0.272727 122 SORD:exon_block:E4-E8 0.818182 643 SORD:boundary_CDS_coverage:after_E1 1.000000 1005 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SORL1 ENST00000260197.12 26 22 9 0 4 48 277 SORL1:single_exon:E6 0.153846 181 SORL1:exon_block:E16-E20 0.307692 730 SORL1:boundary_CDS_coverage:after_E5 1.000000 5884 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOS1 ENST00000402219.8 74 74 5 0 0 23 127 SOS1:single_exon:E10 0.500000 656 SOS1:exon_block:E6-E10 0.648649 1138 SOS1:boundary_CDS_coverage:after_E2 1.000000 3786 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOS2 ENST00000216373.10 12 12 0 0 0 23 127 SOS2:single_exon:E6 0.500000 144 SOS2:exon_block:E5-E9 0.833333 686 SOS2:boundary_CDS_coverage:after_E4 0.916667 3486 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOST ENST00000301691.3 7 7 0 0 0 2 4 SOST:single_exon:E1 0.571429 270 SOST:exon_block:E1-E2 1.000000 2296 SOST:boundary_CDS_coverage:after_E1 0.428571 419 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX10 ENST00000396884.8 229 213 20 3 12 4 13 SOX10:single_exon:E2 0.445415 512 SOX10:exon_block:E1-E4 0.986900 2885 SOX10:boundary_CDS_coverage:after_E1 0.995633 1398 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX11 ENST00000322002.5 84 84 0 0 0 1 1 SOX11:single_exon:E1 1.000000 9002 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX17 ENST00000297316.5 7 7 1 0 0 2 4 SOX17:single_exon:E2 0.571429 1835 SOX17:exon_block:E1-E2 1.000000 2346 SOX17:boundary_CDS_coverage:after_E1 0.571429 935 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX18 ENST00000340356.9 8 8 0 0 0 2 4 SOX18:single_exon:E2 0.750000 1381 SOX18:exon_block:E1-E2 1.000000 1862 SOX18:boundary_CDS_coverage:after_E1 0.750000 794 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX2 ENST00000325404.3 102 101 0 1 0 1 1 SOX2:single_exon:E1 1.000000 2512 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX3 ENST00000370536.5 3 3 0 0 0 1 1 SOX3:single_exon:E1 1.000000 2085 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX30 ENST00000265007.11 1 1 0 0 0 5 19 SOX30:single_exon:E4 1.000000 493 SOX30:exon_block:E3-E4 1.000000 673 SOX30:boundary_CDS_coverage:after_E3 1.000000 872 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX4 ENST00000244745.4 25 25 0 0 0 1 1 SOX4:single_exon:E1 1.000000 4869 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX5 ENST00000451604.7 80 66 22 0 14 15 79 SOX5:single_exon:E13 0.237500 174 SOX5:exon_block:E10-E14 0.550000 824 SOX5:boundary_CDS_coverage:after_E1 1.000000 2251 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX6 ENST00000683767.1 32 31 12 0 1 16 85 SOX6:single_exon:E3 0.125000 208 SOX6:exon_block:E8-E12 0.375000 725 SOX6:boundary_CDS_coverage:after_E1 1.000000 2484 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SOX9 ENST00000245479.3 134 127 11 0 7 3 8 SOX9:single_exon:E3 0.380597 2874 SOX9:exon_block:E1-E3 1.000000 3931 SOX9:boundary_CDS_coverage:after_E1 0.731343 1096 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SP110 ENST00000258381.11 42 32 13 0 10 19 103 SP110:single_exon:E13 0.166667 99 SP110:exon_block:E13-E17 0.404762 539 SP110:boundary_CDS_coverage:after_E1 1.000000 2139 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SP140 ENST00000392045.8 18 0 0 0 0 27 151 SP140:single_exon:E22 0.000000 42 SP140:exon_block:E21-E22 0.000000 90 SP140:boundary_CDS_coverage:after_E26 0.000000 96 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SP6 ENST00000536300.2 2 2 0 0 0 2 4 SP6:single_exon:E2 1.000000 3579 SP6:exon_block:E1-E2 1.000000 3824 SP6:boundary_CDS_coverage:after_E1 1.000000 1128 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SP7 ENST00000536324.4 3 3 0 0 0 3 8 SP7:single_exon:E3 1.000000 2846 SP7:exon_block:E2-E3 1.000000 2914 SP7:boundary_CDS_coverage:after_E2 1.000000 1272 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SP9 ENST00000394967.3 5 5 0 0 0 2 4 SP9:single_exon:E2 1.000000 2394 SP9:exon_block:E1-E2 1.000000 2554 SP9:boundary_CDS_coverage:after_E1 1.000000 1431 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPACA1 ENST00000237201.2 1 1 0 0 0 7 31 SPACA1:single_exon:E1 1.000000 273 SPACA1:exon_block:E1-E2 1.000000 330 SPACA1:boundary_CDS_coverage:after_E6 0.000000 151 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPAG1 ENST00000388798.7 64 53 18 0 11 19 103 SPAG1:single_exon:E11 0.140625 339 SPAG1:exon_block:E7-E11 0.343750 840 SPAG1:boundary_CDS_coverage:after_E1 1.000000 2778 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPAG17 ENST00000336338.10 2 2 0 0 0 49 282 SPAG17:single_exon:E30 0.500000 145 SPAG17:exon_block:E8-E9 0.500000 235 SPAG17:boundary_CDS_coverage:after_E7 1.000000 5658 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPAG8 ENST00000396638.7 16 0 0 0 0 7 31 SPAG8:single_exon:E4 0.000000 46 SPAG8:exon_block:E4-E5 0.000000 161 SPAG8:boundary_CDS_coverage:after_E6 1.000000 192 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPARC ENST00000231061.9 4 3 1 0 1 10 49 SPARC:single_exon:E2 0.250000 70 SPARC:exon_block:E6-E9 0.750000 553 SPARC:boundary_CDS_coverage:after_E2 1.000000 852 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPARCL1 ENST00000282470.11 1 1 0 0 0 11 55 SPARCL1:single_exon:E4 1.000000 1017 SPARCL1:exon_block:E4-E5 1.000000 1090 SPARCL1:boundary_CDS_coverage:after_E3 1.000000 1791 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPART ENST00000438666.7 28 25 6 0 3 9 43 SPART:single_exon:E2 0.428571 812 SPART:exon_block:E2-E6 0.892857 1485 SPART:boundary_CDS_coverage:after_E1 1.000000 1998 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPAST ENST00000315285.9 615 490 213 3 121 17 91 SPAST:single_exon:E11 0.105691 92 SPAST:exon_block:E7-E11 0.386992 409 SPAST:boundary_CDS_coverage:after_E1 0.913821 1433 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPATA22 ENST00000572969.6 186 3 1 0 1 9 43 SPATA22:single_exon:E5 0.005376 96 SPATA22:exon_block:E5-E8 0.016129 667 SPATA22:boundary_CDS_coverage:after_E1 0.021505 1089 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPATA7 ENST00000393545.9 66 53 20 0 13 12 61 SPATA7:single_exon:E6 0.196970 473 SPATA7:exon_block:E5-E9 0.469697 844 SPATA7:boundary_CDS_coverage:after_E1 0.954545 1778 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPDL1 ENST00000265295.9 1 1 0 0 0 12 61 SPDL1:single_exon:E12 1.000000 719 SPDL1:exon_block:E11-E12 1.000000 1065 SPDL1:boundary_CDS_coverage:after_E11 1.000000 145 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPECC1 ENST00000395527.9 1 1 0 0 0 15 79 SPECC1:single_exon:E4 1.000000 1580 SPECC1:exon_block:E3-E4 1.000000 1716 SPECC1:boundary_CDS_coverage:after_E3 1.000000 2921 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPECC1L ENST00000314328.14 14 14 0 0 0 17 91 SPECC1L:single_exon:E5 0.714286 1631 SPECC1L:exon_block:E4-E5 0.785714 1785 SPECC1L:boundary_CDS_coverage:after_E3 1.000000 3198 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPEF2 ENST00000356031.8 12 9 4 0 3 37 211 SPEF2:single_exon:E12 0.166667 155 SPEF2:exon_block:E27-E30 0.250000 646 SPEF2:boundary_CDS_coverage:after_E4 0.916667 4881 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPEG ENST00000312358.12 51 48 10 0 3 41 235 SPEG:single_exon:E30 0.196078 1975 SPEG:exon_block:E27-E31 0.313725 2372 SPEG:boundary_CDS_coverage:after_E1 0.980392 9413 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPEN ENST00000375759.8 101 100 1 0 1 15 79 SPEN:single_exon:E11 0.871287 8176 SPEN:exon_block:E11-E15 0.900990 10174 SPEN:boundary_CDS_coverage:after_E1 0.990099 10909 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPG11 ENST00000261866.12 558 469 143 0 89 40 229 SPG11:single_exon:E30 0.102151 745 SPG11:exon_block:E28-E32 0.229391 1462 SPG11:boundary_CDS_coverage:after_E1 0.964158 7072 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPG21 ENST00000204566.7 13 11 2 0 2 9 43 SPG21:single_exon:E3 0.384615 162 SPG21:exon_block:E3-E7 0.923077 606 SPG21:boundary_CDS_coverage:after_E2 1.000000 861 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPG7 ENST00000645818.2 182 147 51 0 35 17 91 SPG7:single_exon:E15 0.115385 167 SPG7:exon_block:E5-E9 0.329670 706 SPG7:boundary_CDS_coverage:after_E1 0.923077 2202 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPI1 ENST00000378538.8 24 23 3 0 1 5 19 SPI1:single_exon:E5 0.500000 687 SPI1:exon_block:E2-E5 1.000000 1135 SPI1:boundary_CDS_coverage:after_E1 1.000000 765 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPIDR ENST00000297423.9 7 6 1 0 1 20 109 SPIDR:single_exon:E7 0.285714 101 SPIDR:exon_block:E6-E8 0.571429 572 SPIDR:boundary_CDS_coverage:after_E6 1.000000 1969 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPIN4 ENST00000374884.3 1 1 0 0 0 1 1 SPIN4:single_exon:E1 1.000000 4105 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPINK1 ENST00000296695.10 13 7 4 0 5 4 13 SPINK1:single_exon:E3 0.384615 107 SPINK1:exon_block:E1-E3 0.846154 288 SPINK1:boundary_CDS_coverage:after_E1 0.692308 182 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPINK2 ENST00000506738.6 1 0 1 0 1 4 13 SPINK2:single_exon:E2 1.000000 44 SPINK2:exon_block:E2-E3 1.000000 154 SPINK2:boundary_CDS_coverage:after_E1 1.000000 197 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPINK5 ENST00000256084.8 127 91 55 0 36 33 187 SPINK5:single_exon:E26 0.070866 97 SPINK5:exon_block:E24-E28 0.236220 499 SPINK5:boundary_CDS_coverage:after_E1 0.992126 3137 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPINT2 ENST00000301244.12 17 11 8 0 6 7 31 SPINT2:single_exon:E5 0.411765 162 SPINT2:exon_block:E1-E5 0.941176 873 SPINT2:boundary_CDS_coverage:after_E1 0.823529 650 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPNS2 ENST00000329078.8 2 2 0 0 0 13 66 SPNS2:single_exon:E6 0.500000 143 SPNS2:exon_block:E6-E7 1.000000 296 SPNS2:boundary_CDS_coverage:after_E5 1.000000 855 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPO11 ENST00000371263.8 1 1 1 0 0 13 67 SPO11:single_exon:E8 1.000000 110 SPO11:exon_block:E7-E8 1.000000 147 SPO11:boundary_CDS_coverage:after_E8 1.000000 444 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPOCD1 ENST00000360482.7 3 3 0 0 0 16 85 SPOCD1:single_exon:E8 0.333333 160 SPOCD1:exon_block:E15-E16 0.666667 1057 SPOCD1:boundary_CDS_coverage:after_E7 1.000000 1780 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPOP ENST00000504102.6 12 11 3 0 1 10 49 SPOP:single_exon:E5 0.416667 128 SPOP:exon_block:E3-E6 1.000000 580 SPOP:boundary_CDS_coverage:after_E2 1.000000 1044 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPOUT1 ENST00000361256.10 6 6 1 0 0 12 61 SPOUT1:single_exon:E11 0.500000 148 SPOUT1:exon_block:E9-E11 0.833333 350 SPOUT1:boundary_CDS_coverage:after_E3 1.000000 920 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPP2 ENST00000168148.8 1 1 0 0 0 8 36 SPP2:single_exon:E1 1.000000 170 SPP2:exon_block:E1-E2 1.000000 295 SPP2:boundary_CDS_coverage:after_E6 0.000000 83 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPPL2A ENST00000261854.10 2 0 2 0 2 15 79 SPPL2A:single_exon:E6 0.500000 149 SPPL2A:exon_block:E13-E14 0.500000 239 SPPL2A:boundary_CDS_coverage:after_E6 1.000000 827 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPR ENST00000234454.6 36 32 7 0 4 3 8 SPR:single_exon:E1 0.361111 329 SPR:exon_block:E1-E3 1.000000 1432 SPR:boundary_CDS_coverage:after_E1 0.666667 479 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPRED1 ENST00000299084.9 163 145 31 1 17 7 31 SPRED1:single_exon:E7 0.441718 6236 SPRED1:exon_block:E3-E7 0.785276 6713 SPRED1:boundary_CDS_coverage:after_E1 0.957055 1300 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPRED2 ENST00000356388.9 4 4 0 0 0 6 25 SPRED2:single_exon:E2 0.500000 178 SPRED2:exon_block:E2-E6 1.000000 3881 SPRED2:boundary_CDS_coverage:after_E1 1.000000 1228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPRTN ENST00000295050.12 4 4 2 0 0 5 19 SPRTN:single_exon:E5 0.500000 2414 SPRTN:exon_block:E3-E5 1.000000 2811 SPRTN:boundary_CDS_coverage:after_E2 1.000000 1146 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPRY1 ENST00000651917.1 1 1 0 0 0 3 8 SPRY1:single_exon:E3 1.000000 2219 SPRY1:exon_block:E2-E3 1.000000 2465 SPRY1:boundary_CDS_coverage:after_E1 1.000000 957 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPRY4 ENST00000434127.3 1 1 0 0 0 2 4 SPRY4:single_exon:E2 1.000000 4726 SPRY4:exon_block:E1-E2 1.000000 4904 SPRY4:boundary_CDS_coverage:after_E1 1.000000 897 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTA1 ENST00000643759.2 210 162 72 0 48 52 301 SPTA1:single_exon:E2 0.066667 240 SPTA1:exon_block:E2-E6 0.142857 788 SPTA1:boundary_CDS_coverage:after_E1 0.995238 7233 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTAN1 ENST00000372739.7 131 118 30 0 13 57 331 SPTAN1:single_exon:E53 0.145038 197 SPTAN1:exon_block:E49-E53 0.236641 680 SPTAN1:boundary_CDS_coverage:after_E1 1.000000 7431 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTB ENST00000644917.1 557 483 121 0 74 36 205 SPTB:single_exon:E14 0.140036 871 SPTB:exon_block:E12-E16 0.324955 2220 SPTB:boundary_CDS_coverage:after_E1 1.000000 6984 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTBN1 ENST00000356805.9 59 51 13 0 8 36 205 SPTBN1:single_exon:E16 0.118644 757 SPTBN1:exon_block:E14-E18 0.288136 2060 SPTBN1:boundary_CDS_coverage:after_E2 1.000000 6944 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTBN2 ENST00000533211.6 56 49 11 0 7 38 217 SPTBN2:single_exon:E15 0.125000 871 SPTBN2:exon_block:E11-E15 0.285714 1605 SPTBN2:boundary_CDS_coverage:after_E3 1.000000 7013 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTBN4 ENST00000598249.6 33 30 7 0 3 36 205 SPTBN4:single_exon:E14 0.181818 949 SPTBN4:exon_block:E13-E17 0.424242 2192 SPTBN4:boundary_CDS_coverage:after_E6 1.000000 7024 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTLC1 ENST00000262554.7 14 14 7 0 0 15 79 SPTLC1:single_exon:E11 0.357143 97 SPTLC1:exon_block:E2-E6 0.642857 503 SPTLC1:boundary_CDS_coverage:after_E1 1.000000 1362 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTLC2 ENST00000216484.7 10 10 2 0 0 12 61 SPTLC2:single_exon:E8 0.400000 220 SPTLC2:exon_block:E4-E8 0.800000 694 SPTLC2:boundary_CDS_coverage:after_E3 0.900000 1204 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTLC3 ENST00000399002.7 1 1 1 0 0 12 61 SPTLC3:single_exon:E3 1.000000 155 SPTLC3:exon_block:E3-E4 1.000000 304 SPTLC3:boundary_CDS_coverage:after_E2 1.000000 1353 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTSSA ENST00000298130.5 2 2 0 0 0 2 4 SPTSSA:single_exon:E2 1.000000 2517 SPTSSA:exon_block:E1-E2 1.000000 2662 SPTSSA:boundary_CDS_coverage:after_E1 1.000000 101 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SPTY2D1 ENST00000336349.6 1 1 0 0 0 6 25 SPTY2D1:single_exon:E4 1.000000 175 SPTY2D1:exon_block:E4-E5 1.000000 253 SPTY2D1:boundary_CDS_coverage:after_E3 1.000000 344 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SQLE ENST00000265896.10 1 1 0 0 0 11 55 SQLE:single_exon:E8 1.000000 143 SQLE:exon_block:E7-E8 1.000000 239 SQLE:boundary_CDS_coverage:after_E7 1.000000 518 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SQOR ENST00000260324.12 2 2 0 0 0 10 49 SQOR:single_exon:E4 0.500000 54 SQOR:exon_block:E4-E5 1.000000 249 SQOR:boundary_CDS_coverage:after_E3 1.000000 945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SQSTM1 ENST00000389805.9 57 49 18 0 8 8 37 SQSTM1:single_exon:E7 0.245614 196 SQSTM1:exon_block:E4-E8 0.649123 2277 SQSTM1:boundary_CDS_coverage:after_E1 0.877193 1115 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRC ENST00000373578.7 2 2 0 0 0 14 73 SRC:single_exon:E14 1.000000 2880 SRC:exon_block:E13-E14 1.000000 3012 SRC:boundary_CDS_coverage:after_E13 1.000000 206 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRCAP ENST00000262518.9 111 106 9 0 5 34 193 SRCAP:single_exon:E34 0.522523 4361 SRCAP:exon_block:E31-E34 0.567568 4760 SRCAP:boundary_CDS_coverage:after_E3 1.000000 9636 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRD5A2 ENST00000622030.2 89 82 18 0 7 5 19 SRD5A2:single_exon:E1 0.314607 319 SRD5A2:exon_block:E1-E5 1.000000 4519 SRD5A2:boundary_CDS_coverage:after_E1 0.696629 481 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRD5A3 ENST00000264228.9 23 21 3 0 2 5 19 SRD5A3:single_exon:E4 0.260870 135 SRD5A3:exon_block:E1-E5 1.000000 4061 SRD5A3:boundary_CDS_coverage:after_E1 0.739130 733 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SREBF1 ENST00000261646.11 6 5 1 0 1 19 103 SREBF1:single_exon:E8 0.666667 202 SREBF1:exon_block:E8-E9 0.666667 381 SREBF1:boundary_CDS_coverage:after_E1 1.000000 3350 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRFBP1 ENST00000339397.5 54 0 0 0 0 8 37 SRFBP1:single_exon:E7 0.000000 38 SRFBP1:exon_block:E3-E4 0.000000 145 SRFBP1:boundary_CDS_coverage:after_E7 1.000000 182 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRGAP1 ENST00000355086.8 1 1 0 0 0 22 121 SRGAP1:single_exon:E7 1.000000 222 SRGAP1:exon_block:E7-E8 1.000000 324 SRGAP1:boundary_CDS_coverage:after_E6 1.000000 2454 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRGAP3 ENST00000383836.8 1 1 0 0 0 22 121 SRGAP3:single_exon:E19 1.000000 181 SRGAP3:exon_block:E18-E19 1.000000 261 SRGAP3:boundary_CDS_coverage:after_E18 1.000000 1070 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRI ENST00000265729.7 1 0 1 0 1 8 37 SRI:single_exon:E4 1.000000 44 SRI:exon_block:E3-E4 1.000000 114 SRI:boundary_CDS_coverage:after_E3 1.000000 389 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRP19 ENST00000505459.6 1 0 1 0 1 5 19 SRP19:single_exon:E3 1.000000 72 SRP19:exon_block:E2-E3 1.000000 148 SRP19:boundary_CDS_coverage:after_E3 1.000000 243 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRP54 ENST00000216774.11 7 7 0 0 0 16 85 SRP54:single_exon:E5 0.571429 105 SRP54:exon_block:E5-E9 0.857143 530 SRP54:boundary_CDS_coverage:after_E4 1.000000 1257 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRP68 ENST00000307877.7 1 0 1 0 1 16 85 SRP68:single_exon:E1 1.000000 210 SRP68:exon_block:E1-E2 1.000000 277 SRP68:boundary_CDS_coverage:after_E1 1.000000 1697 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRPK3 ENST00000370101.8 4 4 1 0 0 15 79 SRPK3:single_exon:E13 0.250000 70 SRPK3:exon_block:E3-E5 0.500000 285 SRPK3:boundary_CDS_coverage:after_E2 1.000000 1511 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRPRA ENST00000332118.11 1 1 0 0 0 14 73 SRPRA:single_exon:E11 1.000000 214 SRPRA:exon_block:E11-E12 1.000000 378 SRPRA:boundary_CDS_coverage:after_E10 1.000000 603 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRPX ENST00000378533.4 1 1 0 0 0 10 49 SRPX:single_exon:E6 1.000000 122 SRPX:exon_block:E5-E6 1.000000 249 SRPX:boundary_CDS_coverage:after_E5 1.000000 739 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRPX2 ENST00000373004.5 2 2 0 0 0 11 55 SRPX2:single_exon:E7 0.500000 122 SRPX2:exon_block:E7-E10 1.000000 558 SRPX2:boundary_CDS_coverage:after_E6 1.000000 736 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRRM2 ENST00000301740.13 67 65 6 0 2 15 79 SRRM2:single_exon:E11 0.686567 6701 SRRM2:exon_block:E7-E11 0.776119 7077 SRRM2:boundary_CDS_coverage:after_E1 1.000000 8256 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRSF1 ENST00000258962.5 15 14 2 0 1 4 13 SRSF1:single_exon:E2 0.333333 185 SRSF1:exon_block:E1-E4 1.000000 5343 SRSF1:boundary_CDS_coverage:after_E1 0.733333 550 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRSF2 ENST00000359995.10 3 3 0 0 0 3 7 SRSF2:single_exon:E1 1.000000 533 SRSF2:exon_block:E1-E2 1.000000 844 SRSF2:boundary_CDS_coverage:after_E1 0.000000 301 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SRY ENST00000383070.2 42 42 0 0 0 1 1 SRY:single_exon:E1 1.000000 828 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SSBP1 ENST00000265304.11 4 4 1 0 0 7 31 SSBP1:single_exon:E4 0.500000 141 SSBP1:exon_block:E4-E7 1.000000 496 SSBP1:boundary_CDS_coverage:after_E3 1.000000 359 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SSR3 ENST00000265044.7 1 1 0 0 0 5 19 SSR3:single_exon:E3 1.000000 99 SSR3:exon_block:E2-E3 1.000000 226 SSR3:boundary_CDS_coverage:after_E2 1.000000 295 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SSR4 ENST00000370086.8 16 10 8 0 5 6 25 SSR4:single_exon:E2 0.250000 119 SSR4:exon_block:E2-E6 0.812500 521 SSR4:boundary_CDS_coverage:after_E1 0.937500 452 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SSUH2 ENST00000544814.7 1 0 0 0 0 12 61 SSUH2:single_exon:E5 0.000000 61 SSUH2:exon_block:E7-E8 0.000000 149 SSUH2:boundary_CDS_coverage:after_E11 0.000000 144 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SSX1 ENST00000376919.4 3 1 2 0 2 8 36 SSX1:single_exon:E5 0.333333 50 SSX1:exon_block:E3-E5 1.000000 261 SSX1:boundary_CDS_coverage:after_E2 1.000000 495 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ST14 ENST00000278742.6 15 11 8 0 4 19 103 ST14:single_exon:E5 0.133333 158 ST14:exon_block:E2-E6 0.333333 553 ST14:boundary_CDS_coverage:after_E1 0.933333 2484 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ST3GAL3 ENST00000347631.8 22 13 11 0 9 12 61 ST3GAL3:single_exon:E10 0.227273 147 ST3GAL3:exon_block:E8-E12 0.545455 1605 ST3GAL3:boundary_CDS_coverage:after_E1 1.000000 1125 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ST3GAL5 ENST00000638572.2 49 40 12 1 8 7 31 ST3GAL5:single_exon:E4 0.326531 344 ST3GAL5:exon_block:E3-E7 0.816327 4075 ST3GAL5:boundary_CDS_coverage:after_E1 0.877551 1172 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ST6GALNAC5 ENST00000477717.6 1 1 0 0 0 5 19 ST6GALNAC5:single_exon:E5 1.000000 4572 ST6GALNAC5:exon_block:E4-E5 1.000000 4680 ST6GALNAC5:boundary_CDS_coverage:after_E4 1.000000 229 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ST7 ENST00000323984.8 1 1 0 0 0 16 85 ST7:single_exon:E5 1.000000 116 ST7:exon_block:E4-E5 1.000000 171 ST7:boundary_CDS_coverage:after_E4 1.000000 1282 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAC2 ENST00000333461.6 1 1 0 0 0 11 55 STAC2:single_exon:E2 1.000000 307 STAC2:exon_block:E2-E3 1.000000 405 STAC2:boundary_CDS_coverage:after_E1 1.000000 1143 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAC3 ENST00000332782.7 14 11 5 0 3 12 61 STAC3:single_exon:E3 0.214286 268 STAC3:exon_block:E7-E11 0.500000 393 STAC3:boundary_CDS_coverage:after_E2 1.000000 1026 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAG1 ENST00000383202.7 54 48 19 0 6 34 193 STAG1:single_exon:E10 0.111111 124 STAG1:exon_block:E6-E10 0.314815 632 STAG1:boundary_CDS_coverage:after_E1 1.000000 3774 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAG2 ENST00000371145.8 44 37 12 0 7 35 199 STAG2:single_exon:E29 0.090909 129 STAG2:exon_block:E4-E8 0.250000 623 STAG2:boundary_CDS_coverage:after_E3 1.000000 3760 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAG3 ENST00000615138.5 25 20 8 0 5 34 193 STAG3:single_exon:E19 0.160000 201 STAG3:exon_block:E19-E23 0.280000 534 STAG3:boundary_CDS_coverage:after_E3 1.000000 3459 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAMBP ENST00000394070.7 27 21 7 0 6 10 49 STAMBP:single_exon:E5 0.296296 367 STAMBP:exon_block:E2-E6 0.740741 879 STAMBP:boundary_CDS_coverage:after_E1 1.000000 1272 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAP1 ENST00000265404.7 1 1 0 0 0 9 43 STAP1:single_exon:E2 1.000000 72 STAP1:exon_block:E2-E3 1.000000 186 STAP1:boundary_CDS_coverage:after_E1 1.000000 765 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAR ENST00000276449.9 113 94 36 0 19 7 31 STAR:single_exon:E5 0.212389 185 STAR:exon_block:E2-E6 0.796460 680 STAR:boundary_CDS_coverage:after_E1 0.938053 791 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAT1 ENST00000361099.8 98 92 8 0 6 25 139 STAT1:single_exon:E10 0.214286 159 STAT1:exon_block:E10-E14 0.479592 436 STAT1:boundary_CDS_coverage:after_E1 1.000000 2250 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAT2 ENST00000314128.9 34 28 15 0 6 24 133 STAT2:single_exon:E20 0.147059 137 STAT2:exon_block:E17-E21 0.441176 604 STAT2:boundary_CDS_coverage:after_E1 1.000000 2553 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAT3 ENST00000264657.10 100 97 20 0 3 24 133 STAT3:single_exon:E21 0.220000 213 STAT3:exon_block:E19-E23 0.520000 604 STAT3:boundary_CDS_coverage:after_E3 1.000000 2037 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAT4 ENST00000392320.7 2 2 0 0 0 24 133 STAT4:single_exon:E21 1.000000 192 STAT4:exon_block:E21-E22 1.000000 259 STAT4:boundary_CDS_coverage:after_E20 1.000000 392 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAT5B ENST00000293328.8 30 27 8 0 3 19 103 STAT5B:single_exon:E15 0.166667 131 STAT5B:exon_block:E12-E16 0.400000 697 STAT5B:boundary_CDS_coverage:after_E1 1.000000 2361 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STAT6 ENST00000300134.8 6 6 0 0 0 22 121 STAT6:single_exon:E12 0.500000 93 STAT6:exon_block:E11-E14 1.000000 518 STAT6:boundary_CDS_coverage:after_E10 1.000000 1452 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STEEP1 ENST00000644802.2 5 5 2 0 0 7 31 STEEP1:single_exon:E2 0.400000 118 STEEP1:exon_block:E2-E6 0.800000 482 STEEP1:boundary_CDS_coverage:after_E1 0.800000 542 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STIL ENST00000371877.8 30 22 10 0 8 17 91 STIL:single_exon:E5 0.100000 188 STIL:exon_block:E10-E14 0.366667 1592 STIL:boundary_CDS_coverage:after_E2 1.000000 3820 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STIM1 ENST00000526596.2 36 30 9 0 6 13 67 STIM1:single_exon:E2 0.361111 131 STIM1:exon_block:E2-E6 0.638889 652 STIM1:boundary_CDS_coverage:after_E1 0.972222 2009 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STING1 ENST00000330794.9 10 10 0 0 0 8 37 STING1:single_exon:E5 0.500000 109 STING1:exon_block:E5-E7 1.000000 535 STING1:boundary_CDS_coverage:after_E4 1.000000 726 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STK11 ENST00000326873.12 395 324 109 2 69 10 48 STK11:single_exon:E1 0.194937 1426 STK11:exon_block:E1-E5 0.620253 1870 STK11:boundary_CDS_coverage:after_E1 0.820253 1009 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STK16 ENST00000396738.7 1 0 0 0 0 8 37 STK16:single_exon:E6 0.000000 96 STK16:exon_block:E5-E6 0.000000 217 STK16:boundary_CDS_coverage:after_E7 1.000000 136 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STK33 ENST00000687296.1 1 1 0 0 0 16 85 STK33:single_exon:E15 1.000000 198 STK33:exon_block:E14-E15 1.000000 284 STK33:boundary_CDS_coverage:after_E14 1.000000 396 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STK36 ENST00000295709.8 4 2 3 0 2 27 151 STK36:single_exon:E23 0.500000 175 STK36:exon_block:E19-E23 0.750000 514 STK36:boundary_CDS_coverage:after_E11 1.000000 2565 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STK4 ENST00000372806.8 19 16 4 0 3 11 55 STK4:single_exon:E9 0.263158 187 STK4:exon_block:E5-E9 0.736842 787 STK4:boundary_CDS_coverage:after_E1 1.000000 1426 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STN1 ENST00000224950.8 2 2 0 0 0 10 49 STN1:single_exon:E5 0.500000 162 STN1:exon_block:E5-E7 1.000000 458 STN1:boundary_CDS_coverage:after_E4 1.000000 809 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STRA6 ENST00000395105.9 35 28 11 0 6 19 103 STRA6:single_exon:E2 0.171429 128 STRA6:exon_block:E15-E19 0.371429 1318 STRA6:boundary_CDS_coverage:after_E1 0.971429 2001 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STRADA ENST00000336174.12 24 17 10 0 6 13 67 STRADA:single_exon:E5 0.125000 103 STRADA:exon_block:E5-E9 0.500000 630 STRADA:boundary_CDS_coverage:after_E1 1.000000 1293 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STRC ENST00000450892.7 66 56 16 1 9 29 163 STRC:single_exon:E4 0.106061 1258 STRC:exon_block:E20-E24 0.348485 771 STRC:boundary_CDS_coverage:after_E1 1.000000 5261 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STS ENST00000674429.1 14 11 4 0 3 11 55 STS:single_exon:E9 0.357143 160 STS:exon_block:E6-E10 0.785714 981 STS:boundary_CDS_coverage:after_E3 1.000000 1597 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STT3A ENST00000392708.9 6 6 3 0 0 18 97 STT3A:single_exon:E12 0.500000 156 STT3A:exon_block:E12-E16 0.666667 754 STT3A:boundary_CDS_coverage:after_E3 1.000000 1966 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STT3B ENST00000295770.4 2 1 0 0 1 16 85 STT3B:single_exon:E1 0.500000 388 STT3B:exon_block:E1-E2 0.500000 497 STT3B:boundary_CDS_coverage:after_E10 0.500000 939 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STUB1 ENST00000219548.9 45 42 12 1 2 7 31 STUB1:single_exon:E6 0.266667 117 STUB1:exon_block:E3-E7 0.755556 866 STUB1:boundary_CDS_coverage:after_E1 0.933333 750 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STX11 ENST00000367568.5 30 30 0 0 0 2 4 STX11:single_exon:E2 1.000000 5317 STX11:exon_block:E1-E2 1.000000 5504 STX11:boundary_CDS_coverage:after_E1 1.000000 861 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STX16 ENST00000371141.8 3 0 1 0 3 9 43 STX16:single_exon:E5 0.333333 163 STX16:exon_block:E5-E6 0.333333 255 STX16:boundary_CDS_coverage:after_E2 1.000000 831 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STX1A ENST00000222812.8 6 5 3 0 1 10 49 STX1A:single_exon:E8 0.500000 138 STX1A:exon_block:E5-E9 1.000000 506 STX1A:boundary_CDS_coverage:after_E4 1.000000 581 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STX1B ENST00000215095.11 67 43 30 0 24 10 49 STX1B:single_exon:E5 0.164179 74 STX1B:exon_block:E5-E9 0.626866 506 STX1B:boundary_CDS_coverage:after_E1 0.970149 834 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STX3 ENST00000337979.9 12 9 4 0 3 11 54 STX3:single_exon:E6 0.416667 109 STX3:exon_block:E6-E9 0.750000 429 STX3:boundary_CDS_coverage:after_E1 1.000000 837 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STX4 ENST00000313843.8 1 0 1 0 1 11 54 STX4:single_exon:E3 1.000000 100 STX4:exon_block:E3-E4 1.000000 175 STX4:boundary_CDS_coverage:after_E3 1.000000 659 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STX7 ENST00000367941.7 1 1 1 0 0 10 49 STX7:single_exon:E4 1.000000 94 STX7:exon_block:E3-E4 1.000000 164 STX7:boundary_CDS_coverage:after_E3 1.000000 628 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STXBP1 ENST00000373299.5 400 306 165 0 94 19 103 STXBP1:single_exon:E18 0.120000 155 STXBP1:exon_block:E14-E18 0.320000 592 STXBP1:boundary_CDS_coverage:after_E1 0.985000 1745 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STXBP2 ENST00000221283.10 113 71 43 0 31 19 103 STXBP2:single_exon:E5 0.106195 79 STXBP2:exon_block:E3-E7 0.318584 491 STXBP2:boundary_CDS_coverage:after_E1 0.893805 1742 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true STXBP3 ENST00000370008.4 3 2 2 0 1 19 103 STXBP3:single_exon:E12 0.666667 66 STXBP3:exon_block:E8-E12 1.000000 436 STXBP3:boundary_CDS_coverage:after_E7 1.000000 1183 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUCLA2 ENST00000646932.1 33 25 10 0 8 11 55 SUCLA2:single_exon:E7 0.212121 162 SUCLA2:exon_block:E6-E10 0.545455 654 SUCLA2:boundary_CDS_coverage:after_E1 0.969697 1299 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUCLG1 ENST00000393868.7 32 26 9 0 6 9 43 SUCLG1:single_exon:E4 0.281250 213 SUCLG1:exon_block:E4-E8 0.718750 696 SUCLG1:boundary_CDS_coverage:after_E1 0.968750 941 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUFU ENST00000369902.8 125 99 37 0 26 12 61 SUFU:single_exon:E1 0.216000 363 SUFU:exon_block:E1-E5 0.488000 864 SUFU:boundary_CDS_coverage:after_E1 0.800000 1270 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUGCT ENST00000335693.9 2 1 1 0 1 14 73 SUGCT:single_exon:E5 0.500000 51 SUGCT:exon_block:E5-E7 1.000000 264 SUGCT:boundary_CDS_coverage:after_E4 1.000000 1002 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SULT2B1 ENST00000201586.7 7 6 2 0 1 7 31 SULT2B1:single_exon:E3 0.428571 209 SULT2B1:exon_block:E1-E4 0.857143 631 SULT2B1:boundary_CDS_coverage:after_E1 1.000000 1024 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUMF1 ENST00000272902.10 133 104 46 0 29 9 43 SUMF1:single_exon:E1 0.210526 294 SUMF1:exon_block:E1-E5 0.639098 749 SUMF1:boundary_CDS_coverage:after_E1 0.804511 852 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUMF2 ENST00000434526.8 1 0 1 0 1 9 43 SUMF2:single_exon:E6 1.000000 56 SUMF2:exon_block:E6-E7 1.000000 141 SUMF2:boundary_CDS_coverage:after_E5 1.000000 368 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUN5 ENST00000356173.8 7 7 1 0 0 13 67 SUN5:single_exon:E11 0.428571 168 SUN5:exon_block:E8-E11 0.714286 472 SUN5:boundary_CDS_coverage:after_E5 1.000000 797 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUOX ENST00000266971.8 78 75 5 0 3 5 19 SUOX:single_exon:E5 0.807692 1908 SUOX:exon_block:E3-E5 1.000000 2146 SUOX:boundary_CDS_coverage:after_E1 1.000000 1635 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUPT16H ENST00000216297.7 8 8 1 0 0 26 145 SUPT16H:single_exon:E18 0.250000 119 SUPT16H:exon_block:E18-E22 0.500000 604 SUPT16H:boundary_CDS_coverage:after_E4 1.000000 2658 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUPT3H ENST00000371459.6 2 0 0 0 2 11 55 SUPT3H:single_exon:E7 0.000000 76 SUPT3H:exon_block:E3-E4 0.000000 172 SUPT3H:boundary_CDS_coverage:after_E2 1.000000 850 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUPT7L ENST00000337768.10 2 2 0 0 0 6 25 SUPT7L:single_exon:E3 1.000000 405 SUPT7L:exon_block:E2-E3 1.000000 508 SUPT7L:boundary_CDS_coverage:after_E2 1.000000 1228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SURF1 ENST00000371974.8 173 137 71 1 35 9 43 SURF1:single_exon:E8 0.260116 82 SURF1:exon_block:E4-E8 0.716763 593 SURF1:boundary_CDS_coverage:after_E1 0.919075 846 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SUZ12 ENST00000322652.10 32 27 6 0 5 16 85 SUZ12:single_exon:E10 0.156250 178 SUZ12:exon_block:E10-E14 0.406250 771 SUZ12:boundary_CDS_coverage:after_E2 0.968750 1896 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SV2A ENST00000369146.8 3 3 0 0 0 13 67 SV2A:single_exon:E6 0.333333 90 SV2A:exon_block:E4-E6 0.666667 376 SV2A:boundary_CDS_coverage:after_E3 1.000000 1423 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SVBP ENST00000372521.9 6 6 1 0 0 3 8 SVBP:single_exon:E2 0.833333 150 SVBP:exon_block:E2-E3 1.000000 599 SVBP:boundary_CDS_coverage:after_E1 1.000000 198 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SVIL ENST00000355867.9 5 3 2 0 2 38 217 SVIL:single_exon:E18 0.400000 148 SVIL:exon_block:E18-E19 0.400000 238 SVIL:boundary_CDS_coverage:after_E4 1.000000 6634 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYCE1 ENST00000343131.7 7 4 6 0 3 13 67 SYCE1:single_exon:E4 0.428571 75 SYCE1:exon_block:E4-E8 0.857143 332 SYCE1:boundary_CDS_coverage:after_E3 1.000000 857 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYCE2 ENST00000293695.8 15 0 0 0 15 6 25 SYCE2:single_exon:E1 0.000000 51 SYCE2:exon_block:E1-E2 0.000000 167 SYCE2:boundary_CDS_coverage:after_E5 1.000000 42 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYCP2 ENST00000357552.8 6 4 2 0 2 45 259 SYCP2:single_exon:E10 0.166667 35 SYCP2:exon_block:E8-E10 0.333333 207 SYCP2:boundary_CDS_coverage:after_E8 1.000000 4077 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYCP2L ENST00000283141.11 3 3 0 0 0 30 168 SYCP2L:single_exon:E13 0.333333 93 SYCP2L:exon_block:E12-E13 0.333333 139 SYCP2L:boundary_CDS_coverage:after_E2 1.000000 2358 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYCP3 ENST00000392924.2 3 2 1 0 1 9 43 SYCP3:single_exon:E8 0.666667 105 SYCP3:exon_block:E7-E8 0.666667 204 SYCP3:boundary_CDS_coverage:after_E7 1.000000 156 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYK ENST00000375754.9 3 3 0 0 0 14 73 SYK:single_exon:E12 0.333333 141 SYK:exon_block:E9-E12 1.000000 719 SYK:boundary_CDS_coverage:after_E8 1.000000 902 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYN1 ENST00000295987.13 67 59 17 0 8 13 67 SYN1:single_exon:E12 0.253731 589 SYN1:exon_block:E8-E12 0.567164 1002 SYN1:boundary_CDS_coverage:after_E1 0.820896 1738 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYN3 ENST00000358763.7 12 1 0 0 11 14 73 SYN3:single_exon:E13 0.083333 292 SYN3:exon_block:E12-E13 0.083333 380 SYN3:boundary_CDS_coverage:after_E6 1.000000 1029 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYNCRIP ENST00000369622.8 5 5 0 0 0 11 55 SYNCRIP:single_exon:E11 0.400000 1372 SYNCRIP:exon_block:E7-E11 0.800000 1986 SYNCRIP:boundary_CDS_coverage:after_E4 1.000000 1494 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYNE1 ENST00000367255.10 379 315 103 0 64 146 865 SYNE1:single_exon:E78 0.081794 2161 SYNE1:exon_block:E78-E82 0.110818 3123 SYNE1:boundary_CDS_coverage:after_E3 1.000000 26324 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYNE2 ENST00000555002.6 10 10 2 0 0 116 685 SYNE2:single_exon:E30 0.200000 611 SYNE2:exon_block:E30-E31 0.300000 791 SYNE2:boundary_CDS_coverage:after_E9 1.000000 19833 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYNE4 ENST00000324444.9 42 33 14 0 9 8 37 SYNE4:single_exon:E5 0.238095 249 SYNE4:exon_block:E2-E6 0.833333 844 SYNE4:boundary_CDS_coverage:after_E1 0.904762 1084 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYNGAP1 ENST00000646630.1 433 378 87 0 55 19 103 SYNGAP1:single_exon:E15 0.242494 1072 SYNGAP1:exon_block:E11-E15 0.413395 1732 SYNGAP1:boundary_CDS_coverage:after_E1 0.990762 3962 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYNJ1 ENST00000674351.1 55 39 19 1 11 33 186 SYNJ1:single_exon:E11 0.072727 153 SYNJ1:exon_block:E18-E22 0.218182 729 SYNJ1:boundary_CDS_coverage:after_E1 0.927273 3933 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYP ENST00000263233.9 11 9 3 0 2 7 30 SYP:single_exon:E6 0.454545 331 SYP:exon_block:E3-E6 0.909091 844 SYP:boundary_CDS_coverage:after_E2 0.909091 837 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYT1 ENST00000261205.9 21 20 7 0 1 11 55 SYT1:single_exon:E11 0.428571 3091 SYT1:exon_block:E7-E11 0.952381 3679 SYT1:boundary_CDS_coverage:after_E5 1.000000 915 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYT14 ENST00000367019.6 2 1 1 0 1 9 43 SYT14:single_exon:E1 0.500000 61 SYT14:exon_block:E1-E2 0.500000 109 SYT14:boundary_CDS_coverage:after_E1 1.000000 1709 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYT2 ENST00000367268.5 17 14 6 0 3 9 43 SYT2:single_exon:E9 0.294118 6368 SYT2:exon_block:E5-E9 0.764706 6956 SYT2:boundary_CDS_coverage:after_E1 1.000000 1257 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SYTL5 ENST00000297875.7 1 0 0 0 0 17 91 SYTL5:single_exon:E10 0.000000 93 SYTL5:exon_block:E9-E10 0.000000 194 SYTL5:boundary_CDS_coverage:after_E16 0.000000 140 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true SZT2 ENST00000634258.3 188 151 57 0 37 72 421 SZT2:single_exon:E62 0.042553 200 SZT2:exon_block:E58-E62 0.111702 851 SZT2:boundary_CDS_coverage:after_E1 1.000000 10269 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAB2 ENST00000637181.2 77 74 3 0 3 7 31 TAB2:single_exon:E3 0.857143 1501 TAB2:exon_block:E2-E5 1.000000 1947 TAB2:boundary_CDS_coverage:after_E1 1.000000 2079 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAC3 ENST00000458521.7 4 3 2 0 1 7 30 TAC3:single_exon:E4 0.500000 30 TAC3:exon_block:E2-E5 1.000000 297 TAC3:boundary_CDS_coverage:after_E1 1.000000 363 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TACO1 ENST00000258975.7 16 13 4 0 3 5 19 TACO1:single_exon:E1 0.500000 469 TACO1:exon_block:E1-E5 1.000000 1446 TACO1:boundary_CDS_coverage:after_E1 0.625000 611 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TACR3 ENST00000304883.3 18 15 4 0 3 5 19 TACR3:single_exon:E1 0.388889 858 TACR3:exon_block:E1-E5 1.000000 5359 TACR3:boundary_CDS_coverage:after_E1 0.666667 847 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TACSTD2 ENST00000371225.4 11 11 0 0 0 1 1 TACSTD2:single_exon:E1 1.000000 1820 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAF1 ENST00000423759.6 39 38 9 0 1 38 217 TAF1:single_exon:E28 0.179487 178 TAF1:exon_block:E28-E32 0.282051 547 TAF1:boundary_CDS_coverage:after_E5 0.974359 4905 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAF13 ENST00000338366.6 3 2 1 0 1 4 13 TAF13:single_exon:E3 0.666667 98 TAF13:exon_block:E2-E3 1.000000 177 TAF13:boundary_CDS_coverage:after_E1 1.000000 345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAF2 ENST00000378164.7 4 3 1 0 1 26 145 TAF2:single_exon:E21 0.250000 70 TAF2:exon_block:E19-E21 0.750000 404 TAF2:boundary_CDS_coverage:after_E15 1.000000 1738 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAF4 ENST00000252996.9 19 19 3 0 0 15 79 TAF4:single_exon:E1 0.526316 1431 TAF4:exon_block:E1-E3 0.631579 1712 TAF4:boundary_CDS_coverage:after_E1 0.473684 1895 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAF4B ENST00000269142.10 1 1 1 0 0 15 79 TAF4B:single_exon:E9 1.000000 106 TAF4B:exon_block:E8-E9 1.000000 242 TAF4B:boundary_CDS_coverage:after_E8 1.000000 860 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAF6 ENST00000453269.7 5 2 3 0 3 15 79 TAF6:single_exon:E8 0.200000 78 TAF6:exon_block:E4-E8 0.600000 555 TAF6:boundary_CDS_coverage:after_E1 1.000000 2031 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAF7L ENST00000356784.2 1 0 1 0 1 13 67 TAF7L:single_exon:E3 1.000000 79 TAF7L:exon_block:E2-E3 1.000000 147 TAF7L:boundary_CDS_coverage:after_E3 1.000000 983 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAF8 ENST00000372977.8 8 5 4 0 3 9 43 TAF8:single_exon:E5 0.375000 125 TAF8:exon_block:E5-E8 0.875000 556 TAF8:boundary_CDS_coverage:after_E1 1.000000 885 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAFAZZIN ENST00000601016.6 104 77 59 0 27 11 55 TAFAZZIN:single_exon:E2 0.240385 129 TAFAZZIN:exon_block:E2-E6 0.538462 432 TAFAZZIN:boundary_CDS_coverage:after_E1 0.971154 767 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TALDO1 ENST00000319006.8 24 19 7 0 5 8 37 TALDO1:single_exon:E6 0.375000 198 TALDO1:exon_block:E3-E7 0.875000 760 TALDO1:boundary_CDS_coverage:after_E1 0.958333 914 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAMM41 ENST00000455809.6 5 3 4 0 2 8 37 TAMM41:single_exon:E6 0.600000 166 TAMM41:exon_block:E3-E6 1.000000 556 TAMM41:boundary_CDS_coverage:after_E2 1.000000 693 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TANC2 ENST00000689528.1 54 41 14 0 13 28 157 TANC2:single_exon:E28 0.240741 7705 TANC2:exon_block:E25-E28 0.314815 8045 TANC2:boundary_CDS_coverage:after_E2 1.000000 6155 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TANGO2 ENST00000327374.9 43 29 20 0 14 9 43 TANGO2:single_exon:E3 0.255814 89 TANGO2:exon_block:E3-E7 0.790698 549 TANGO2:boundary_CDS_coverage:after_E1 1.000000 828 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAOK1 ENST00000261716.8 72 59 24 0 13 20 109 TAOK1:single_exon:E16 0.083333 204 TAOK1:exon_block:E14-E18 0.375000 1023 TAOK1:boundary_CDS_coverage:after_E1 1.000000 3003 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAOK2 ENST00000308893.9 1 0 0 0 0 16 85 TAOK2:single_exon:E5 0.000000 46 TAOK2:exon_block:E5-E6 0.000000 143 TAOK2:boundary_CDS_coverage:after_E15 1.000000 1713 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAP1 ENST00000354258.5 29 25 5 1 2 11 55 TAP1:single_exon:E4 0.206897 206 TAP1:exon_block:E1-E5 0.517241 1316 TAP1:boundary_CDS_coverage:after_E1 0.793103 1646 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAP2 ENST00000374897.4 26 20 6 0 6 12 61 TAP2:single_exon:E2 0.269231 497 TAP2:exon_block:E2-E6 0.730769 1147 TAP2:boundary_CDS_coverage:after_E1 1.000000 2058 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAPBP ENST00000434618.7 1 0 0 0 1 8 37 TAPBP:single_exon:E7 0.000000 35 TAPBP:exon_block:E6-E7 0.000000 125 TAPBP:boundary_CDS_coverage:after_E7 1.000000 9 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAPBPL ENST00000266556.8 13 0 0 0 0 7 31 TAPBPL:single_exon:E6 0.000000 84 TAPBPL:exon_block:E6-E7 0.000000 367 TAPBPL:boundary_CDS_coverage:after_E6 1.000000 113 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAPT1 ENST00000405303.7 9 4 6 0 5 14 73 TAPT1:single_exon:E10 0.222222 60 TAPT1:exon_block:E6-E10 0.777778 419 TAPT1:boundary_CDS_coverage:after_E1 1.000000 1502 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TARDBP ENST00000240185.8 25 24 0 0 0 6 25 TARDBP:single_exon:E6 0.920000 3369 TARDBP:exon_block:E4-E6 0.960000 3681 TARDBP:boundary_CDS_coverage:after_E3 1.000000 840 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TARS1 ENST00000265112.8 5 5 1 0 0 19 103 TARS1:single_exon:E16 0.400000 105 TARS1:exon_block:E16-E18 0.600000 293 TARS1:boundary_CDS_coverage:after_E5 1.000000 1594 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TARS2 ENST00000369064.8 17 16 3 0 1 18 97 TARS2:single_exon:E11 0.176471 163 TARS2:exon_block:E7-E11 0.470588 706 TARS2:boundary_CDS_coverage:after_E1 1.000000 2088 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TASP1 ENST00000337743.9 4 2 2 0 2 14 73 TASP1:single_exon:E3 0.250000 68 TASP1:exon_block:E6-E9 0.750000 392 TASP1:boundary_CDS_coverage:after_E2 1.000000 1115 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TAT ENST00000355962.5 68 50 25 0 18 12 61 TAT:single_exon:E6 0.132353 139 TAT:exon_block:E5-E9 0.514706 633 TAT:boundary_CDS_coverage:after_E1 1.000000 1362 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBATA ENST00000456372.4 1 1 0 0 0 11 55 TBATA:single_exon:E4 1.000000 236 TBATA:exon_block:E4-E5 1.000000 386 TBATA:boundary_CDS_coverage:after_E3 1.000000 1015 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D20 ENST00000354200.5 6 5 1 0 1 8 37 TBC1D20:single_exon:E6 0.333333 142 TBC1D20:exon_block:E2-E6 1.000000 698 TBC1D20:boundary_CDS_coverage:after_E1 1.000000 1139 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D23 ENST00000394144.9 14 9 7 0 5 19 103 TBC1D23:single_exon:E16 0.285714 89 TBC1D23:exon_block:E6-E10 0.500000 492 TBC1D23:boundary_CDS_coverage:after_E5 1.000000 1497 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D24 ENST00000646147.1 107 95 20 0 12 8 37 TBC1D24:single_exon:E2 0.616822 1080 TBC1D24:exon_block:E2-E6 0.813084 1417 TBC1D24:boundary_CDS_coverage:after_E1 1.000000 1677 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D25 ENST00000376771.9 1 0 0 0 0 6 25 TBC1D25:single_exon:E2 0.000000 110 TBC1D25:exon_block:E2-E3 0.000000 265 TBC1D25:boundary_CDS_coverage:after_E5 1.000000 1359 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D2B ENST00000300584.8 12 12 2 0 0 13 67 TBC1D2B:single_exon:E10 0.250000 118 TBC1D2B:exon_block:E1-E3 0.500000 742 TBC1D2B:boundary_CDS_coverage:after_E1 0.750000 2529 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D31 ENST00000287380.6 1 1 0 0 0 22 121 TBC1D31:single_exon:E2 1.000000 147 TBC1D31:exon_block:E2-E3 1.000000 263 TBC1D31:boundary_CDS_coverage:after_E1 1.000000 3121 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D32 ENST00000398212.7 19 15 7 0 4 32 181 TBC1D32:single_exon:E22 0.105263 89 TBC1D32:exon_block:E18-E22 0.315789 552 TBC1D32:boundary_CDS_coverage:after_E1 0.947368 3616 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D7 ENST00000379300.8 7 7 3 0 0 8 37 TBC1D7:single_exon:E4 0.428571 188 TBC1D7:exon_block:E4-E7 0.857143 602 TBC1D7:boundary_CDS_coverage:after_E1 1.000000 879 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBC1D8B ENST00000357242.10 9 9 0 0 0 21 115 TBC1D8B:single_exon:E9 0.222222 151 TBC1D8B:exon_block:E2-E6 0.555556 905 TBC1D8B:boundary_CDS_coverage:after_E1 1.000000 3230 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBCD ENST00000355528.9 95 69 40 0 26 39 223 TBCD:single_exon:E15 0.063158 58 TBCD:exon_block:E9-E13 0.242105 501 TBCD:boundary_CDS_coverage:after_E1 0.968421 3392 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBCE ENST00000642610.2 64 52 26 2 10 17 91 TBCE:single_exon:E13 0.140625 154 TBCE:exon_block:E10-E14 0.390625 506 TBCE:boundary_CDS_coverage:after_E1 1.000000 1581 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBCK ENST00000394708.7 98 65 46 0 33 26 145 TBCK:single_exon:E15 0.091837 99 TBCK:exon_block:E20-E24 0.265306 637 TBCK:boundary_CDS_coverage:after_E1 1.000000 2679 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBK1 ENST00000331710.10 84 65 34 0 19 21 115 TBK1:single_exon:E12 0.107143 102 TBK1:exon_block:E8-E12 0.345238 630 TBK1:boundary_CDS_coverage:after_E1 1.000000 2187 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBL1X ENST00000645353.2 1 1 0 0 0 18 97 TBL1X:single_exon:E11 1.000000 98 TBL1X:exon_block:E11-E12 1.000000 159 TBL1X:boundary_CDS_coverage:after_E10 1.000000 776 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBL1XR1 ENST00000457928.7 113 101 28 0 12 16 85 TBL1XR1:single_exon:E14 0.168142 166 TBL1XR1:exon_block:E10-E14 0.477876 552 TBL1XR1:boundary_CDS_coverage:after_E1 1.000000 1542 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBP ENST00000392092.7 2 2 0 0 0 8 37 TBP:single_exon:E3 1.000000 443 TBP:exon_block:E3-E4 1.000000 531 TBP:boundary_CDS_coverage:after_E2 1.000000 963 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBR1 ENST00000389554.8 69 64 13 0 5 6 25 TBR1:single_exon:E6 0.304348 2502 TBR1:exon_block:E2-E6 0.753623 3000 TBR1:boundary_CDS_coverage:after_E1 0.753623 1354 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBRG1 ENST00000441174.8 1 1 0 0 0 9 43 TBRG1:single_exon:E5 1.000000 147 TBRG1:exon_block:E5-E6 1.000000 245 TBRG1:boundary_CDS_coverage:after_E4 1.000000 642 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX1 ENST00000649276.2 56 45 11 0 8 7 31 TBX1:single_exon:E7 0.285714 946 TBX1:exon_block:E3-E7 0.625000 1443 TBX1:boundary_CDS_coverage:after_E1 0.732143 1075 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX15 ENST00000369429.5 4 4 0 0 0 8 37 TBX15:single_exon:E8 0.500000 2470 TBX15:exon_block:E6-E8 1.000000 2633 TBX15:boundary_CDS_coverage:after_E5 1.000000 945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX18 ENST00000369663.10 6 6 2 0 0 8 37 TBX18:single_exon:E7 0.333333 95 TBX18:exon_block:E4-E8 0.833333 5414 TBX18:boundary_CDS_coverage:after_E1 1.000000 1529 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX19 ENST00000367821.8 24 18 9 0 6 8 37 TBX19:single_exon:E4 0.250000 62 TBX19:exon_block:E2-E6 0.916667 713 TBX19:boundary_CDS_coverage:after_E1 0.916667 1141 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX2 ENST00000240328.4 4 4 0 0 0 7 31 TBX2:single_exon:E1 0.500000 729 TBX2:exon_block:E1-E2 0.750000 997 TBX2:boundary_CDS_coverage:after_E1 0.500000 1741 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX20 ENST00000408931.4 46 37 15 0 9 8 37 TBX20:single_exon:E3 0.282609 165 TBX20:exon_block:E2-E6 0.847826 763 TBX20:boundary_CDS_coverage:after_E1 0.934783 1214 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX21 ENST00000177694.2 1 1 0 0 0 6 25 TBX21:single_exon:E1 1.000000 710 TBX21:exon_block:E1-E2 1.000000 865 TBX21:boundary_CDS_coverage:after_E5 0.000000 616 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX22 ENST00000373296.8 15 12 8 0 3 9 43 TBX22:single_exon:E6 0.400000 165 TBX22:exon_block:E4-E8 0.800000 593 TBX22:boundary_CDS_coverage:after_E1 1.000000 1560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX3 ENST00000349155.7 37 31 8 0 6 7 31 TBX3:single_exon:E1 0.270270 1364 TBX3:exon_block:E1-E5 0.702703 2014 TBX3:boundary_CDS_coverage:after_E1 0.783784 1780 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX4 ENST00000644296.1 67 58 20 0 9 9 43 TBX4:single_exon:E8 0.238806 230 TBX4:exon_block:E5-E9 0.701493 2834 TBX4:boundary_CDS_coverage:after_E1 1.000000 1638 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX5 ENST00000405440.7 192 164 58 0 28 9 43 TBX5:single_exon:E5 0.166667 148 TBX5:exon_block:E4-E8 0.692708 740 TBX5:boundary_CDS_coverage:after_E1 1.000000 1554 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBX6 ENST00000395224.7 23 20 3 2 1 9 43 TBX6:single_exon:E9 0.347826 646 TBX6:exon_block:E5-E9 0.695652 1122 TBX6:boundary_CDS_coverage:after_E2 1.000000 1190 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBXA2R ENST00000375190.10 4 3 1 0 1 3 8 TBXA2R:single_exon:E2 0.750000 869 TBXA2R:exon_block:E2-E3 1.000000 2296 TBXA2R:boundary_CDS_coverage:after_E1 1.000000 1029 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBXAS1 ENST00000448866.7 24 17 8 0 7 13 67 TBXAS1:single_exon:E12 0.208333 163 TBXAS1:exon_block:E5-E9 0.625000 801 TBXAS1:boundary_CDS_coverage:after_E1 1.000000 1510 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TBXT ENST00000366876.7 2 2 0 0 0 8 37 TBXT:single_exon:E3 0.500000 135 TBXT:exon_block:E3-E6 1.000000 436 TBXT:boundary_CDS_coverage:after_E2 1.000000 837 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCAP ENST00000309889.3 35 31 8 0 4 2 4 TCAP:single_exon:E1 0.657143 121 TCAP:exon_block:E1-E2 1.000000 960 TCAP:boundary_CDS_coverage:after_E1 0.457143 391 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCEAL1 ENST00000372625.8 12 12 0 0 0 3 8 TCEAL1:single_exon:E3 1.000000 1069 TCEAL1:exon_block:E2-E3 1.000000 1149 TCEAL1:boundary_CDS_coverage:after_E1 1.000000 477 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCERG1 ENST00000679501.2 1 1 0 0 0 23 127 TCERG1:single_exon:E2 1.000000 226 TCERG1:exon_block:E1-E2 1.000000 302 TCERG1:boundary_CDS_coverage:after_E1 1.000000 3286 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCF12 ENST00000333725.10 133 110 35 0 23 21 114 TCF12:single_exon:E19 0.195489 233 TCF12:exon_block:E15-E19 0.518797 790 TCF12:boundary_CDS_coverage:after_E1 1.000000 2118 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCF20 ENST00000677622.1 139 139 0 0 0 6 24 TCF20:single_exon:E2 0.978417 5691 TCF20:exon_block:E2-E3 1.000000 5785 TCF20:boundary_CDS_coverage:after_E1 1.000000 5880 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCF3 ENST00000262965.12 33 20 16 0 13 19 103 TCF3:single_exon:E10 0.151515 170 TCF3:exon_block:E12-E16 0.333333 495 TCF3:boundary_CDS_coverage:after_E2 1.000000 1890 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCF4 ENST00000354452.8 280 220 98 1 58 20 108 TCF4:single_exon:E18 0.235714 230 TCF4:exon_block:E14-E18 0.539286 810 TCF4:boundary_CDS_coverage:after_E1 0.996429 2013 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCF7L2 ENST00000355995.9 13 10 2 0 3 15 79 TCF7L2:single_exon:E11 0.461538 108 TCF7L2:exon_block:E7-E11 0.846154 584 TCF7L2:boundary_CDS_coverage:after_E5 1.000000 1305 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCHH ENST00000614923.2 3 3 0 0 0 3 8 TCHH:single_exon:E3 1.000000 6762 TCHH:exon_block:E2-E3 1.000000 6931 TCHH:boundary_CDS_coverage:after_E2 1.000000 5691 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCIRG1 ENST00000265686.8 279 207 113 0 72 20 109 TCIRG1:single_exon:E12 0.111111 158 TCIRG1:exon_block:E8-E12 0.379928 750 TCIRG1:boundary_CDS_coverage:after_E1 1.000000 2490 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCN1 ENST00000257264.4 7 7 2 0 0 9 43 TCN1:single_exon:E2 0.428571 180 TCN1:exon_block:E1-E4 1.000000 573 TCN1:boundary_CDS_coverage:after_E1 0.714286 1220 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCN2 ENST00000215838.8 69 55 19 0 14 9 43 TCN2:single_exon:E3 0.217391 170 TCN2:exon_block:E2-E6 0.724638 876 TCN2:boundary_CDS_coverage:after_E1 0.971014 1217 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCOF1 ENST00000643257.2 224 205 51 0 19 27 150 TCOF1:single_exon:E24 0.129464 561 TCOF1:exon_block:E21-E25 0.272321 1146 TCOF1:boundary_CDS_coverage:after_E1 0.959821 4359 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCP1 ENST00000321394.12 5 5 1 0 0 12 61 TCP1:single_exon:E5 0.200000 111 TCP1:exon_block:E3-E7 0.800000 647 TCP1:boundary_CDS_coverage:after_E2 1.000000 1518 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCTN1 ENST00000397659.9 59 35 28 0 24 15 78 TCTN1:single_exon:E12 0.152542 163 TCTN1:exon_block:E1-E5 0.423729 766 TCTN1:boundary_CDS_coverage:after_E1 0.915254 1556 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCTN2 ENST00000303372.7 77 56 32 0 21 18 97 TCTN2:single_exon:E16 0.129870 126 TCTN2:exon_block:E12-E16 0.363636 583 TCTN2:boundary_CDS_coverage:after_E1 0.948052 2009 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TCTN3 ENST00000371217.10 69 56 19 0 13 14 73 TCTN3:single_exon:E1 0.144928 284 TCTN3:exon_block:E4-E8 0.434783 470 TCTN3:boundary_CDS_coverage:after_E1 0.869565 1565 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TDP1 ENST00000335725.9 5 5 1 0 0 17 91 TDP1:single_exon:E3 0.400000 566 TDP1:exon_block:E14-E16 0.400000 320 TDP1:boundary_CDS_coverage:after_E1 1.000000 1824 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TDP2 ENST00000378198.9 13 10 3 0 3 7 31 TDP2:single_exon:E3 0.461538 174 TDP2:exon_block:E3-E7 0.923077 1647 TDP2:boundary_CDS_coverage:after_E2 0.923077 835 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TDRD1 ENST00000695399.1 1 1 0 0 0 25 139 TDRD1:single_exon:E8 1.000000 180 TDRD1:exon_block:E7-E8 1.000000 285 TDRD1:boundary_CDS_coverage:after_E7 1.000000 2739 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TDRD12 ENST00000639142.2 4 3 1 0 1 33 187 TDRD12:single_exon:E10 0.250000 77 TDRD12:exon_block:E9-E10 0.500000 175 TDRD12:boundary_CDS_coverage:after_E9 1.000000 3027 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TDRD7 ENST00000355295.5 9 9 1 0 0 17 91 TDRD7:single_exon:E15 0.333333 503 TDRD7:exon_block:E11-E15 0.444444 971 TDRD7:boundary_CDS_coverage:after_E2 1.000000 3087 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TDRD9 ENST00000409874.9 10 9 2 0 1 36 205 TDRD9:single_exon:E19 0.100000 45 TDRD9:exon_block:E28-E32 0.400000 695 TDRD9:boundary_CDS_coverage:after_E4 1.000000 3504 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TDRKH ENST00000368824.8 1 1 0 0 0 13 67 TDRKH:single_exon:E7 1.000000 161 TDRKH:exon_block:E7-E8 1.000000 334 TDRKH:boundary_CDS_coverage:after_E6 1.000000 800 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEAD1 ENST00000527636.7 1 1 0 0 0 13 67 TEAD1:single_exon:E13 1.000000 7629 TEAD1:exon_block:E12-E13 1.000000 7782 TEAD1:boundary_CDS_coverage:after_E12 1.000000 111 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEAD3 ENST00000338863.13 1 0 0 0 0 13 67 TEAD3:single_exon:E5 0.000000 12 TEAD3:exon_block:E4-E5 0.000000 75 TEAD3:boundary_CDS_coverage:after_E12 0.000000 111 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEC ENST00000381501.8 1 0 1 0 1 18 97 TEC:single_exon:E7 1.000000 176 TEC:exon_block:E6-E7 1.000000 217 TEC:boundary_CDS_coverage:after_E6 1.000000 1398 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TECPR1 ENST00000447648.7 2 2 1 0 0 26 145 TECPR1:single_exon:E19 0.500000 80 TECPR1:exon_block:E19-E21 1.000000 318 TECPR1:boundary_CDS_coverage:after_E18 1.000000 885 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TECPR2 ENST00000359520.12 126 109 28 0 17 20 109 TECPR2:single_exon:E9 0.166667 977 TECPR2:exon_block:E6-E10 0.460317 1940 TECPR2:boundary_CDS_coverage:after_E1 1.000000 4233 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TECRL ENST00000381210.8 25 17 10 0 8 12 61 TECRL:single_exon:E7 0.160000 73 TECRL:exon_block:E5-E9 0.560000 397 TECRL:boundary_CDS_coverage:after_E1 0.880000 855 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TECTA ENST00000392793.6 123 111 24 0 12 24 133 TECTA:single_exon:E21 0.097561 163 TECTA:exon_block:E7-E11 0.373984 2753 TECTA:boundary_CDS_coverage:after_E1 1.000000 6465 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEK ENST00000380036.10 61 56 16 0 5 23 127 TEK:single_exon:E23 0.278689 1017 TEK:exon_block:E19-E23 0.442623 1326 TEK:boundary_CDS_coverage:after_E1 1.000000 3320 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEKT3 ENST00000395930.6 3 3 0 0 0 9 43 TEKT3:single_exon:E3 0.666667 608 TEKT3:exon_block:E3-E6 1.000000 907 TEKT3:boundary_CDS_coverage:after_E1 1.000000 1470 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TELO2 ENST00000262319.11 26 19 10 0 7 21 115 TELO2:single_exon:E3 0.192308 278 TELO2:exon_block:E2-E5 0.384615 866 TELO2:boundary_CDS_coverage:after_E1 1.000000 2511 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TENM1 ENST00000422452.4 1 1 0 0 0 35 199 TENM1:single_exon:E28 1.000000 511 TENM1:exon_block:E28-E29 1.000000 684 TENM1:boundary_CDS_coverage:after_E27 1.000000 3725 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TENM3 ENST00000511685.6 10 8 2 0 2 28 157 TENM3:single_exon:E9 0.100000 102 TENM3:exon_block:E9-E13 0.400000 831 TENM3:boundary_CDS_coverage:after_E8 1.000000 6560 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TENM4 ENST00000278550.12 3 3 1 0 0 34 193 TENM4:single_exon:E27 0.333333 155 TENM4:exon_block:E16-E17 0.333333 213 TENM4:boundary_CDS_coverage:after_E10 1.000000 7052 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TENT5A ENST00000320172.11 4 4 0 0 0 3 8 TENT5A:single_exon:E2 0.500000 589 TENT5A:exon_block:E2-E3 1.000000 5331 TENT5A:boundary_CDS_coverage:after_E1 1.000000 1326 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TERB1 ENST00000433154.6 4 4 0 0 0 19 103 TERB1:single_exon:E16 0.250000 96 TERB1:exon_block:E16-E17 0.500000 246 TERB1:boundary_CDS_coverage:after_E5 1.000000 1910 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TERB2 ENST00000340827.4 3 3 1 0 0 7 31 TERB2:single_exon:E5 0.333333 86 TERB2:exon_block:E5-E7 1.000000 916 TERB2:boundary_CDS_coverage:after_E5 1.000000 226 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TERC ENST00000602385.3 49 0 2 0 0 1 1 TERC:single_exon:E1 0.877551 451 single_exon_hotspot_opportunity single_exon_hotspot hotspot_panel single exon captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TERF2IP ENST00000300086.5 1 0 1 0 1 3 8 TERF2IP:single_exon:E1 1.000000 780 TERF2IP:exon_block:E1-E2 1.000000 905 TERF2IP:boundary_CDS_coverage:after_E1 1.000000 527 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TERT ENST00000310581.10 163 133 34 1 28 16 85 TERT:single_exon:E2 0.319018 1354 TERT:exon_block:E1-E5 0.601227 2209 TERT:boundary_CDS_coverage:after_E1 0.926380 3177 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TET2 ENST00000380013.9 178 167 18 0 10 11 55 TET2:single_exon:E3 0.668539 3455 TET2:exon_block:E3-E7 0.853933 4000 TET2:boundary_CDS_coverage:after_E1 0.994382 6006 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TET3 ENST00000409262.8 52 51 4 0 1 12 61 TET3:single_exon:E12 0.250000 7784 TET3:exon_block:E8-E12 0.500000 8500 TET3:boundary_CDS_coverage:after_E1 1.000000 5385 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEX11 ENST00000374333.7 13 8 8 0 5 30 169 TEX11:single_exon:E15 0.153846 86 TEX11:exon_block:E14-E17 0.384615 479 TEX11:boundary_CDS_coverage:after_E2 1.000000 2738 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEX12 ENST00000280358.5 1 0 0 0 0 5 19 TEX12:single_exon:E4 0.000000 52 TEX12:exon_block:E3-E4 0.000000 164 TEX12:boundary_CDS_coverage:after_E4 1.000000 142 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEX14 ENST00000349033.10 10 9 3 0 1 32 181 TEX14:single_exon:E24 0.300000 206 TEX14:exon_block:E23-E24 0.400000 334 TEX14:boundary_CDS_coverage:after_E3 1.000000 4102 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEX15 ENST00000643185.2 22 22 0 0 0 11 55 TEX15:single_exon:E8 0.818182 7313 TEX15:exon_block:E8-E10 1.000000 8631 TEX15:boundary_CDS_coverage:after_E7 1.000000 8666 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TEX9 ENST00000696102.1 7 0 0 0 0 12 61 TEX9:single_exon:E5 0.000000 49 TEX9:exon_block:E4-E5 0.000000 129 TEX9:boundary_CDS_coverage:after_E11 1.000000 75 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TF ENST00000402696.9 18 14 3 0 3 17 91 TF:single_exon:E3 0.111111 109 TF:exon_block:E2-E5 0.388889 592 TF:boundary_CDS_coverage:after_E1 0.944444 2051 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFAM ENST00000487519.6 2 2 2 0 0 7 31 TFAM:single_exon:E5 0.500000 96 TFAM:exon_block:E4-E5 1.000000 246 TFAM:boundary_CDS_coverage:after_E3 1.000000 447 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFAP2A ENST00000379613.10 53 49 15 1 3 7 31 TFAP2A:single_exon:E4 0.547170 232 TFAP2A:exon_block:E2-E6 0.905660 980 TFAP2A:boundary_CDS_coverage:after_E1 0.981132 1266 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFAP2B ENST00000393655.4 27 22 8 0 5 7 31 TFAP2B:single_exon:E4 0.259259 220 TFAP2B:exon_block:E1-E5 0.925926 961 TFAP2B:boundary_CDS_coverage:after_E1 0.925926 1299 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFCP2L1 ENST00000263707.6 1 1 0 0 0 15 79 TFCP2L1:single_exon:E7 1.000000 111 TFCP2L1:exon_block:E7-E8 1.000000 203 TFCP2L1:boundary_CDS_coverage:after_E6 1.000000 780 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFE3 ENST00000315869.8 20 19 1 0 1 10 49 TFE3:single_exon:E4 0.700000 246 TFE3:exon_block:E3-E4 1.000000 550 TFE3:boundary_CDS_coverage:after_E2 1.000000 1495 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFG ENST00000240851.9 5 5 0 0 0 8 37 TFG:single_exon:E4 0.400000 147 TFG:exon_block:E4-E8 0.800000 1368 TFG:boundary_CDS_coverage:after_E1 1.000000 1200 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFPT ENST00000391759.6 1 0 0 0 0 6 25 TFPT:single_exon:E4 0.000000 70 TFPT:exon_block:E3-E4 0.000000 141 TFPT:boundary_CDS_coverage:after_E5 0.000000 117 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFR2 ENST00000223051.8 175 129 60 0 46 18 97 TFR2:single_exon:E17 0.148571 141 TFR2:exon_block:E14-E18 0.371429 1238 TFR2:boundary_CDS_coverage:after_E1 0.982857 2370 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TFRC ENST00000360110.9 1 0 1 0 1 19 103 TFRC:single_exon:E10 1.000000 158 TFRC:exon_block:E10-E11 1.000000 278 TFRC:boundary_CDS_coverage:after_E10 1.000000 1082 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TG ENST00000220616.9 241 185 79 0 56 48 277 TG:single_exon:E9 0.112033 1101 TG:exon_block:E8-E12 0.257261 2250 TG:boundary_CDS_coverage:after_E1 0.995851 8237 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGDS ENST00000261296.7 11 9 4 0 2 12 61 TGDS:single_exon:E4 0.454545 91 TGDS:exon_block:E4-E6 0.545455 333 TGDS:boundary_CDS_coverage:after_E3 1.000000 828 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGFB1 ENST00000221930.6 11 11 1 0 0 7 31 TGFB1:single_exon:E4 0.363636 78 TGFB1:exon_block:E1-E4 0.818182 1590 TGFB1:boundary_CDS_coverage:after_E1 0.727273 815 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGFB2 ENST00000366930.9 112 98 20 0 14 7 31 TGFB2:single_exon:E1 0.294643 1712 TGFB2:exon_block:E1-E5 0.776786 2298 TGFB2:boundary_CDS_coverage:after_E1 0.732143 896 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGFB3 ENST00000238682.8 81 60 28 0 21 7 31 TGFB3:single_exon:E5 0.222222 172 TGFB3:exon_block:E1-E5 0.765432 2028 TGFB3:boundary_CDS_coverage:after_E1 0.851852 884 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGFBI ENST00000442011.7 20 20 0 0 0 17 91 TGFBI:single_exon:E14 0.300000 103 TGFBI:exon_block:E11-E14 0.800000 496 TGFBI:boundary_CDS_coverage:after_E3 1.000000 1751 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGFBR1 ENST00000374994.9 108 92 27 0 16 9 43 TGFBR1:single_exon:E4 0.296296 231 TGFBR1:exon_block:E4-E8 0.750000 812 TGFBR1:boundary_CDS_coverage:after_E1 0.953704 1412 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGFBR2 ENST00000295754.10 130 125 12 0 5 7 31 TGFBR2:single_exon:E4 0.315385 800 TGFBR2:exon_block:E4-E7 1.000000 3793 TGFBR2:boundary_CDS_coverage:after_E3 1.000000 1247 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGIF1 ENST00000343820.10 11 9 0 0 2 3 8 TGIF1:single_exon:E3 0.545455 2614 TGIF1:exon_block:E2-E3 0.818182 2841 TGIF1:boundary_CDS_coverage:after_E1 1.000000 800 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGIF2LY ENST00000321217.5 1 1 0 0 0 2 4 TGIF2LY:single_exon:E2 1.000000 818 TGIF2LY:exon_block:E1-E2 1.000000 879 TGIF2LY:boundary_CDS_coverage:after_E1 1.000000 555 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGM1 ENST00000206765.11 297 260 72 0 37 15 79 TGM1:single_exon:E3 0.134680 189 TGM1:exon_block:E3-E7 0.491582 840 TGM1:boundary_CDS_coverage:after_E1 1.000000 2451 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGM3 ENST00000381458.6 1 1 0 0 0 13 67 TGM3:single_exon:E10 1.000000 309 TGM3:exon_block:E10-E11 1.000000 467 TGM3:boundary_CDS_coverage:after_E9 1.000000 746 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGM4 ENST00000296125.9 1 1 0 0 0 14 73 TGM4:single_exon:E7 1.000000 175 TGM4:exon_block:E6-E7 1.000000 283 TGM4:boundary_CDS_coverage:after_E6 1.000000 1395 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGM5 ENST00000220420.10 19 14 4 1 4 13 67 TGM5:single_exon:E5 0.210526 129 TGM5:exon_block:E2-E6 0.578947 852 TGM5:boundary_CDS_coverage:after_E1 1.000000 2150 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TGM6 ENST00000202625.7 10 6 5 0 4 13 67 TGM6:single_exon:E8 0.200000 104 TGM6:exon_block:E6-E10 0.600000 1006 TGM6:boundary_CDS_coverage:after_E1 1.000000 2111 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TH ENST00000352909.8 189 138 60 0 49 13 67 TH:single_exon:E7 0.148148 146 TH:exon_block:E5-E9 0.455026 471 TH:boundary_CDS_coverage:after_E1 0.968254 1401 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THAP1 ENST00000254250.7 46 44 9 0 2 3 8 THAP1:single_exon:E2 0.369565 196 THAP1:exon_block:E1-E3 1.000000 2161 THAP1:boundary_CDS_coverage:after_E1 0.695652 568 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THAP11 ENST00000303596.3 1 1 0 0 0 1 1 THAP11:single_exon:E1 1.000000 1876 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THAP7 ENST00000215742.9 1 0 0 0 0 4 13 THAP7:single_exon:E3 0.000000 141 THAP7:exon_block:E2-E3 0.000000 297 THAP7:boundary_CDS_coverage:after_E3 1.000000 550 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THBD ENST00000377103.3 8 8 0 0 0 1 1 THBD:single_exon:E1 1.000000 4040 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THBS2 ENST00000617924.6 1 1 0 0 0 22 121 THBS2:single_exon:E17 1.000000 235 THBS2:exon_block:E16-E17 1.000000 354 THBS2:boundary_CDS_coverage:after_E16 1.000000 978 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THG1L ENST00000231198.12 4 4 2 0 0 6 25 THG1L:single_exon:E1 0.750000 212 THG1L:exon_block:E1-E3 1.000000 559 THG1L:boundary_CDS_coverage:after_E2 0.250000 526 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THOC1 ENST00000261600.11 1 1 0 0 0 21 115 THOC1:single_exon:E8 1.000000 83 THOC1:exon_block:E8-E9 1.000000 157 THOC1:boundary_CDS_coverage:after_E7 1.000000 1451 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THOC2 ENST00000245838.13 21 19 6 0 2 39 222 THOC2:single_exon:E23 0.142857 276 THOC2:exon_block:E23-E27 0.380952 837 THOC2:boundary_CDS_coverage:after_E2 0.952381 4649 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THOC6 ENST00000326266.13 23 18 7 0 5 13 67 THOC6:single_exon:E2 0.217391 116 THOC6:exon_block:E8-E12 0.521739 462 THOC6:boundary_CDS_coverage:after_E1 1.000000 984 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THPO ENST00000647395.1 17 10 3 3 3 6 25 THPO:single_exon:E2 0.352941 158 THPO:exon_block:E2-E6 0.941176 1785 THPO:boundary_CDS_coverage:after_E1 0.941176 1059 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THRA ENST00000450525.7 19 18 0 0 0 9 43 THRA:single_exon:E9 0.526316 3797 THRA:exon_block:E6-E9 0.894737 4409 THRA:boundary_CDS_coverage:after_E3 1.000000 1109 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THRB ENST00000646209.2 75 73 6 0 2 11 55 THRB:single_exon:E11 0.453333 5973 THRB:exon_block:E8-E11 0.973333 6585 THRB:boundary_CDS_coverage:after_E4 1.000000 1361 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THSD1 ENST00000258613.5 6 6 0 0 0 5 19 THSD1:single_exon:E5 0.666667 1623 THSD1:exon_block:E3-E5 1.000000 2745 THSD1:boundary_CDS_coverage:after_E2 1.000000 2498 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THSD4 ENST00000261862.8 9 8 2 0 1 18 97 THSD4:single_exon:E4 0.333333 365 THSD4:exon_block:E4-E6 0.666667 916 THSD4:boundary_CDS_coverage:after_E3 1.000000 2955 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THTPA ENST00000288014.7 1 0 0 0 0 2 4 THTPA:single_exon:E1 0.000000 1034 THTPA:exon_block:E1-E2 0.000000 2611 THTPA:boundary_CDS_coverage:after_E1 0.000000 143 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true THUMPD1 ENST00000396083.7 8 8 0 0 0 4 13 THUMPD1:single_exon:E3 0.500000 249 THUMPD1:exon_block:E2-E4 1.000000 4047 THUMPD1:boundary_CDS_coverage:after_E1 1.000000 828 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIA1 ENST00000433529.7 1 1 0 0 0 13 67 TIA1:single_exon:E13 1.000000 3402 TIA1:exon_block:E12-E13 1.000000 3548 TIA1:boundary_CDS_coverage:after_E12 1.000000 124 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIAM1 ENST00000541036.6 5 5 1 0 0 28 157 TIAM1:single_exon:E5 0.400000 448 TIAM1:exon_block:E5-E9 0.600000 1179 TIAM1:boundary_CDS_coverage:after_E4 1.000000 3810 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIE1 ENST00000372476.8 2 2 0 0 0 23 127 TIE1:single_exon:E22 0.500000 100 TIE1:exon_block:E21-E22 0.500000 197 TIE1:boundary_CDS_coverage:after_E9 1.000000 2081 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIGD1 ENST00000408957.7 14 0 0 14 0 1 1 TIGD1:single_exon:E1 1.000000 6675 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIMELESS ENST00000553532.6 1 1 0 0 0 29 163 TIMELESS:single_exon:E27 1.000000 226 TIMELESS:exon_block:E27-E28 1.000000 328 TIMELESS:boundary_CDS_coverage:after_E26 1.000000 396 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIMM22 ENST00000327158.5 1 1 0 0 0 4 13 TIMM22:single_exon:E1 1.000000 252 TIMM22:exon_block:E1-E2 1.000000 449 TIMM22:boundary_CDS_coverage:after_E3 0.000000 74 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIMM50 ENST00000607714.6 6 6 1 0 0 11 55 TIMM50:single_exon:E3 0.166667 32 TIMM50:exon_block:E5-E9 0.666667 540 TIMM50:boundary_CDS_coverage:after_E2 0.833333 800 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIMM8A ENST00000372902.4 25 19 5 0 3 2 4 TIMM8A:single_exon:E1 0.440000 210 TIMM8A:exon_block:E1-E2 0.840000 1210 TIMM8A:boundary_CDS_coverage:after_E1 0.520000 159 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIMMDC1 ENST00000494664.6 8 5 4 0 3 7 31 TIMMDC1:single_exon:E3 0.375000 89 TIMMDC1:exon_block:E1-E5 0.875000 783 TIMMDC1:boundary_CDS_coverage:after_E1 0.750000 661 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TIMP3 ENST00000266085.7 11 11 2 0 0 5 19 TIMP3:single_exon:E5 0.818182 3862 TIMP3:exon_block:E1-E5 1.000000 4597 TIMP3:boundary_CDS_coverage:after_E2 0.909091 429 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TINF2 ENST00000267415.12 25 24 1 0 1 9 43 TINF2:single_exon:E6 0.880000 457 TINF2:exon_block:E3-E6 0.960000 764 TINF2:boundary_CDS_coverage:after_E3 0.960000 954 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TJP2 ENST00000377245.9 83 65 32 0 18 23 127 TJP2:single_exon:E5 0.204819 610 TJP2:exon_block:E5-E9 0.361446 1111 TJP2:boundary_CDS_coverage:after_E1 0.987952 3510 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TK2 ENST00000544898.6 93 82 29 0 11 10 49 TK2:single_exon:E6 0.204301 74 TK2:exon_block:E5-E9 0.634409 414 TK2:boundary_CDS_coverage:after_E1 0.881720 671 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TKFC ENST00000394900.8 2 2 0 0 0 18 97 TKFC:single_exon:E14 0.500000 107 TKFC:exon_block:E14-E18 1.000000 3227 TKFC:boundary_CDS_coverage:after_E13 1.000000 485 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TKT ENST00000462138.6 5 4 3 0 1 14 73 TKT:single_exon:E2 0.200000 118 TKT:exon_block:E6-E8 0.600000 478 TKT:boundary_CDS_coverage:after_E1 1.000000 1762 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLCD3B ENST00000380495.9 2 2 0 0 0 5 19 TLCD3B:single_exon:E2 0.500000 84 TLCD3B:exon_block:E2-E3 1.000000 319 TLCD3B:boundary_CDS_coverage:after_E1 1.000000 697 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLE6 ENST00000246112.9 7 6 2 0 1 17 91 TLE6:single_exon:E13 0.285714 251 TLE6:exon_block:E10-E13 0.714286 619 TLE6:boundary_CDS_coverage:after_E6 1.000000 1431 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLK2 ENST00000346027.10 88 70 33 0 18 22 121 TLK2:single_exon:E11 0.125000 137 TLK2:exon_block:E8-E12 0.340909 590 TLK2:boundary_CDS_coverage:after_E1 1.000000 2250 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLL1 ENST00000061240.7 4 3 1 0 1 21 115 TLL1:single_exon:E5 0.500000 118 TLL1:exon_block:E4-E5 0.500000 271 TLL1:boundary_CDS_coverage:after_E4 1.000000 2525 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLN1 ENST00000314888.10 1 0 1 0 1 57 331 TLN1:single_exon:E54 1.000000 63 TLN1:exon_block:E53-E54 1.000000 189 TLN1:boundary_CDS_coverage:after_E54 1.000000 435 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLR1 ENST00000308979.7 2 2 0 0 0 4 13 TLR1:single_exon:E4 1.000000 2644 TLR1:exon_block:E3-E4 1.000000 2736 TLR1:boundary_CDS_coverage:after_E1 1.000000 2358 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLR5 ENST00000642603.2 1 1 0 0 0 6 25 TLR5:single_exon:E6 1.000000 3632 TLR5:exon_block:E5-E6 1.000000 3797 TLR5:boundary_CDS_coverage:after_E1 1.000000 2574 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLR7 ENST00000380659.4 6 6 0 0 0 3 8 TLR7:single_exon:E3 1.000000 4850 TLR7:exon_block:E2-E3 1.000000 4951 TLR7:boundary_CDS_coverage:after_E2 1.000000 3144 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLR8 ENST00000218032.7 5 5 0 0 0 2 4 TLR8:single_exon:E2 1.000000 4126 TLR8:exon_block:E1-E2 1.000000 4216 TLR8:boundary_CDS_coverage:after_E1 1.000000 3120 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TLR9 ENST00000360658.3 1 1 0 0 0 2 4 TLR9:single_exon:E2 1.000000 3233 TLR9:exon_block:E1-E2 1.000000 3352 TLR9:boundary_CDS_coverage:after_E1 1.000000 3093 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TM2D3 ENST00000333202.8 4 4 1 0 0 6 25 TM2D3:single_exon:E5 0.250000 76 TM2D3:exon_block:E1-E5 0.750000 598 TM2D3:boundary_CDS_coverage:after_E1 0.750000 650 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMBIM1 ENST00000258412.8 1 1 0 0 0 12 61 TMBIM1:single_exon:E12 1.000000 1425 TMBIM1:exon_block:E11-E12 1.000000 1479 TMBIM1:boundary_CDS_coverage:after_E11 1.000000 144 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMC1 ENST00000297784.10 173 131 73 0 42 24 133 TMC1:single_exon:E13 0.092486 143 TMC1:exon_block:E12-E16 0.375723 762 TMC1:boundary_CDS_coverage:after_E1 1.000000 2280 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMC6 ENST00000590602.6 42 27 10 0 9 20 109 TMC6:single_exon:E11 0.095238 156 TMC6:exon_block:E8-E12 0.380952 902 TMC6:boundary_CDS_coverage:after_E2 0.857143 2359 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMC8 ENST00000318430.10 38 29 12 0 9 16 85 TMC8:single_exon:E8 0.157895 171 TMC8:exon_block:E6-E10 0.526316 720 TMC8:boundary_CDS_coverage:after_E1 1.000000 2178 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMCO1 ENST00000367881.11 16 12 8 2 2 7 31 TMCO1:single_exon:E2 0.250000 78 TMCO1:exon_block:E2-E6 0.687500 398 TMCO1:boundary_CDS_coverage:after_E1 0.875000 494 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMCO6 ENST00000394671.8 3 0 0 0 0 12 61 TMCO6:single_exon:E6 0.000000 86 TMCO6:exon_block:E5-E6 0.000000 191 TMCO6:boundary_CDS_coverage:after_E11 1.000000 111 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM106B ENST00000396668.8 2 2 0 0 0 8 37 TMEM106B:single_exon:E8 1.000000 11531 TMEM106B:exon_block:E7-E8 1.000000 11585 TMEM106B:boundary_CDS_coverage:after_E7 1.000000 136 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM107 ENST00000437139.7 34 8 2 25 1 5 19 TMEM107:single_exon:E5 0.764706 1816 TMEM107:exon_block:E1-E5 1.000000 2263 TMEM107:boundary_CDS_coverage:after_E1 0.970588 333 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM126A ENST00000304511.7 10 8 2 0 2 5 19 TMEM126A:single_exon:E3 0.700000 194 TMEM126A:exon_block:E2-E4 1.000000 402 TMEM126A:boundary_CDS_coverage:after_E1 1.000000 585 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM126B ENST00000358867.11 16 15 5 0 1 5 19 TMEM126B:single_exon:E3 0.375000 194 TMEM126B:exon_block:E1-E5 1.000000 1015 TMEM126B:boundary_CDS_coverage:after_E1 0.937500 609 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM127 ENST00000258439.8 116 101 19 1 14 4 13 TMEM127:single_exon:E2 0.474138 375 TMEM127:exon_block:E2-E4 1.000000 6142 TMEM127:boundary_CDS_coverage:after_E1 1.000000 714 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM132E ENST00000631683.2 2 0 0 0 2 9 43 TMEM132E:single_exon:E5 0.000000 144 TMEM132E:exon_block:E4-E5 0.000000 337 TMEM132E:boundary_CDS_coverage:after_E1 1.000000 3155 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM138 ENST00000278826.11 19 15 12 0 4 5 19 TMEM138:single_exon:E2 0.421053 267 TMEM138:exon_block:E2-E5 1.000000 1428 TMEM138:boundary_CDS_coverage:after_E1 1.000000 486 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM147 ENST00000222284.10 15 10 5 0 5 7 31 TMEM147:single_exon:E5 0.333333 85 TMEM147:exon_block:E2-E6 0.933333 474 TMEM147:boundary_CDS_coverage:after_E1 0.933333 595 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM151A ENST00000327259.5 11 11 0 0 0 2 4 TMEM151A:single_exon:E2 1.000000 2343 TMEM151A:exon_block:E1-E2 1.000000 2538 TMEM151A:boundary_CDS_coverage:after_E1 1.000000 1329 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM163 ENST00000281924.6 4 4 0 0 0 8 37 TMEM163:single_exon:E4 0.500000 92 TMEM163:exon_block:E2-E4 1.000000 256 TMEM163:boundary_CDS_coverage:after_E1 1.000000 665 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM165 ENST00000381334.10 5 4 0 0 1 6 25 TMEM165:single_exon:E4 0.200000 183 TMEM165:exon_block:E1-E4 0.600000 1025 TMEM165:boundary_CDS_coverage:after_E1 0.800000 765 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM203 ENST00000343666.6 1 0 0 0 0 1 1 TMEM203:single_exon:E1 0.000000 1567 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM216 ENST00000515837.7 55 38 24 0 15 5 19 TMEM216:single_exon:E4 0.345455 202 TMEM216:exon_block:E1-E4 0.945455 476 TMEM216:boundary_CDS_coverage:after_E1 0.963636 401 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM218 ENST00000682305.1 4 4 1 0 0 5 19 TMEM218:single_exon:E4 0.500000 103 TMEM218:exon_block:E3-E5 1.000000 3641 TMEM218:boundary_CDS_coverage:after_E1 1.000000 345 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM222 ENST00000374076.9 5 4 3 0 1 6 25 TMEM222:single_exon:E2 0.400000 85 TMEM222:exon_block:E2-E5 1.000000 345 TMEM222:boundary_CDS_coverage:after_E1 1.000000 430 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM230 ENST00000202834.12 1 1 1 0 0 4 13 TMEM230:single_exon:E4 1.000000 1082 TMEM230:exon_block:E3-E4 1.000000 1205 TMEM230:boundary_CDS_coverage:after_E3 1.000000 138 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM231 ENST00000258173.11 52 36 20 2 14 7 31 TMEM231:single_exon:E2 0.250000 170 TMEM231:exon_block:E1-E5 0.846154 707 TMEM231:boundary_CDS_coverage:after_E1 0.826923 809 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM232 ENST00000455884.7 1 0 0 0 0 14 73 TMEM232:single_exon:E1 0.000000 45 TMEM232:exon_block:E1-E2 0.000000 182 TMEM232:boundary_CDS_coverage:after_E13 0.000000 174 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM237 ENST00000409883.7 43 30 22 0 13 13 67 TMEM237:single_exon:E8 0.186047 124 TMEM237:exon_block:E6-E10 0.697674 669 TMEM237:boundary_CDS_coverage:after_E1 0.953488 1182 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM240 ENST00000378733.9 3 3 0 0 0 4 13 TMEM240:single_exon:E4 1.000000 730 TMEM240:exon_block:E3-E4 1.000000 939 TMEM240:boundary_CDS_coverage:after_E3 1.000000 146 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM256 ENST00000302422.4 1 1 0 0 0 4 13 TMEM256:single_exon:E4 1.000000 235 TMEM256:exon_block:E3-E4 1.000000 316 TMEM256:boundary_CDS_coverage:after_E3 1.000000 141 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM260 ENST00000261556.11 30 27 10 0 3 16 85 TMEM260:single_exon:E13 0.166667 177 TMEM260:exon_block:E11-E15 0.433333 643 TMEM260:boundary_CDS_coverage:after_E1 0.900000 1961 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM38B ENST00000374692.8 11 9 4 0 2 6 25 TMEM38B:single_exon:E3 0.363636 185 TMEM38B:exon_block:E1-E4 0.909091 662 TMEM38B:boundary_CDS_coverage:after_E2 0.727273 604 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM43 ENST00000306077.5 3 2 1 0 1 12 61 TMEM43:single_exon:E5 0.333333 50 TMEM43:exon_block:E3-E5 0.666667 280 TMEM43:boundary_CDS_coverage:after_E2 1.000000 1038 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM47 ENST00000275954.4 1 1 0 0 0 3 8 TMEM47:single_exon:E1 1.000000 482 TMEM47:exon_block:E1-E2 1.000000 623 TMEM47:boundary_CDS_coverage:after_E2 0.000000 176 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM50B ENST00000542230.7 1 0 0 0 0 7 31 TMEM50B:single_exon:E6 0.000000 58 TMEM50B:exon_block:E5-E6 0.000000 151 TMEM50B:boundary_CDS_coverage:after_E6 1.000000 43 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM53 ENST00000372237.8 2 1 1 0 1 3 8 TMEM53:single_exon:E2 0.500000 122 TMEM53:exon_block:E2-E3 1.000000 2085 TMEM53:boundary_CDS_coverage:after_E1 1.000000 770 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM63A ENST00000366835.8 9 9 2 0 0 25 138 TMEM63A:single_exon:E19 0.555556 163 TMEM63A:exon_block:E16-E19 0.666667 420 TMEM63A:boundary_CDS_coverage:after_E6 1.000000 2050 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM63B ENST00000323267.11 7 7 1 0 0 24 133 TMEM63B:single_exon:E16 0.285714 107 TMEM63B:exon_block:E15-E19 0.714286 577 TMEM63B:boundary_CDS_coverage:after_E1 1.000000 2496 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM63C ENST00000298351.5 4 4 0 0 0 24 133 TMEM63C:single_exon:E18 0.250000 66 TMEM63C:exon_block:E15-E19 0.750000 577 TMEM63C:boundary_CDS_coverage:after_E8 1.000000 1876 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM67 ENST00000453321.8 241 178 106 0 63 28 157 TMEM67:single_exon:E8 0.070539 155 TMEM67:exon_block:E1-E5 0.232365 597 TMEM67:boundary_CDS_coverage:after_E1 0.962656 2762 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM70 ENST00000312184.6 38 32 5 0 6 3 8 TMEM70:single_exon:E3 0.500000 1629 TMEM70:exon_block:E1-E3 0.973684 2032 TMEM70:boundary_CDS_coverage:after_E1 0.710526 570 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM87B ENST00000283206.9 1 1 1 0 0 19 103 TMEM87B:single_exon:E14 1.000000 104 TMEM87B:exon_block:E13-E14 1.000000 163 TMEM87B:boundary_CDS_coverage:after_E13 1.000000 393 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM92 ENST00000507382.2 1 0 1 0 1 5 19 TMEM92:single_exon:E2 1.000000 26 TMEM92:exon_block:E2-E3 1.000000 101 TMEM92:boundary_CDS_coverage:after_E2 1.000000 382 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM94 ENST00000314256.12 22 17 9 0 5 32 181 TMEM94:single_exon:E8 0.136364 103 TMEM94:exon_block:E6-E10 0.318182 662 TMEM94:boundary_CDS_coverage:after_E5 1.000000 3659 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMEM98 ENST00000579849.6 3 3 0 0 0 8 37 TMEM98:single_exon:E8 0.666667 3530 TMEM98:exon_block:E4-E8 1.000000 3872 TMEM98:boundary_CDS_coverage:after_E3 1.000000 547 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMIE ENST00000643606.3 17 12 6 0 4 4 13 TMIE:single_exon:E2 0.352941 118 TMIE:exon_block:E1-E4 0.941176 1765 TMIE:boundary_CDS_coverage:after_E1 0.764706 375 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMLHE ENST00000334398.8 3 2 1 0 1 8 37 TMLHE:single_exon:E3 0.333333 177 TMLHE:exon_block:E3-E6 1.000000 814 TMLHE:boundary_CDS_coverage:after_E2 1.000000 1082 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMPPE ENST00000342462.5 13 0 0 13 0 2 4 TMPPE:single_exon:E1 1.000000 428 TMPPE:exon_block:E1-E2 1.000000 4310 TMPPE:boundary_CDS_coverage:after_E1 0.000000 1359 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMPRSS15 ENST00000284885.8 78 58 28 0 20 25 139 TMPRSS15:single_exon:E21 0.089744 175 TMPRSS15:exon_block:E20-E24 0.320513 643 TMPRSS15:boundary_CDS_coverage:after_E1 0.987179 2912 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMPRSS3 ENST00000644384.2 115 92 40 0 23 13 67 TMPRSS3:single_exon:E12 0.156522 153 TMPRSS3:exon_block:E8-E12 0.573913 728 TMPRSS3:boundary_CDS_coverage:after_E1 1.000000 1359 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMPRSS6 ENST00000676104.1 35 29 9 1 5 18 97 TMPRSS6:single_exon:E16 0.171429 272 TMPRSS6:exon_block:E12-E16 0.485714 771 TMPRSS6:boundary_CDS_coverage:after_E1 1.000000 2406 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMPRSS9 ENST00000696167.1 2 2 0 0 0 19 103 TMPRSS9:single_exon:E10 0.500000 137 TMPRSS9:exon_block:E9-E10 1.000000 412 TMPRSS9:boundary_CDS_coverage:after_E8 1.000000 2437 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMTC3 ENST00000266712.11 17 16 3 0 1 14 73 TMTC3:single_exon:E7 0.235294 253 TMTC3:exon_block:E6-E10 0.470588 808 TMTC3:boundary_CDS_coverage:after_E1 1.000000 2742 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMTC4 ENST00000342624.10 2 2 1 0 0 19 103 TMTC4:single_exon:E6 0.500000 88 TMTC4:exon_block:E5-E6 1.000000 305 TMTC4:boundary_CDS_coverage:after_E4 1.000000 1945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TMX2 ENST00000278422.9 8 8 3 0 0 8 37 TMX2:single_exon:E1 0.500000 215 TMX2:exon_block:E1-E4 0.625000 467 TMX2:boundary_CDS_coverage:after_E3 0.500000 524 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNC ENST00000350763.9 5 5 2 0 0 28 157 TNC:single_exon:E18 0.200000 123 TNC:exon_block:E18-E19 0.400000 267 TNC:boundary_CDS_coverage:after_E1 1.000000 6603 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNF ENST00000449264.3 1 1 0 0 0 4 13 TNF:single_exon:E4 1.000000 1221 TNF:exon_block:E3-E4 1.000000 1269 TNF:boundary_CDS_coverage:after_E3 1.000000 419 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFAIP3 ENST00000612899.5 89 84 13 0 5 9 43 TNFAIP3:single_exon:E7 0.426966 920 TNFAIP3:exon_block:E3-E7 0.797753 1611 TNFAIP3:boundary_CDS_coverage:after_E1 1.000000 2370 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFRSF10B ENST00000276431.9 2 2 0 0 0 9 43 TNFRSF10B:single_exon:E5 0.500000 272 TNFRSF10B:exon_block:E5-E9 1.000000 3385 TNFRSF10B:boundary_CDS_coverage:after_E4 1.000000 844 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFRSF11A ENST00000586569.3 32 28 8 0 4 10 49 TNFRSF11A:single_exon:E9 0.250000 784 TNFRSF11A:exon_block:E1-E5 0.656250 564 TNFRSF11A:boundary_CDS_coverage:after_E1 0.781250 1773 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFRSF11B ENST00000297350.9 11 10 1 1 0 5 19 TNFRSF11B:single_exon:E3 0.363636 192 TNFRSF11B:exon_block:E1-E5 1.000000 2087 TNFRSF11B:boundary_CDS_coverage:after_E1 0.909091 1173 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFRSF13B ENST00000261652.7 33 26 10 0 7 5 19 TNFRSF13B:single_exon:E3 0.363636 246 TNFRSF13B:exon_block:E1-E5 1.000000 1391 TNFRSF13B:boundary_CDS_coverage:after_E1 0.939394 818 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFRSF13C ENST00000291232.5 2 2 0 0 0 3 8 TNFRSF13C:single_exon:E2 1.000000 231 TNFRSF13C:exon_block:E1-E2 1.000000 400 TNFRSF13C:boundary_CDS_coverage:after_E1 1.000000 416 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFRSF1A ENST00000162749.7 35 33 6 0 2 10 49 TNFRSF1A:single_exon:E3 0.428571 129 TNFRSF1A:exon_block:E2-E6 0.971429 586 TNFRSF1A:boundary_CDS_coverage:after_E1 1.000000 1326 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFRSF9 ENST00000377507.8 13 10 5 0 3 8 37 TNFRSF9:single_exon:E4 0.307692 138 TNFRSF9:exon_block:E2-E5 0.846154 497 TNFRSF9:boundary_CDS_coverage:after_E1 1.000000 765 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFSF11 ENST00000398795.7 5 4 1 0 1 5 19 TNFSF11:single_exon:E5 0.800000 1517 TNFSF11:exon_block:E4-E5 1.000000 1616 TNFSF11:boundary_CDS_coverage:after_E4 1.000000 419 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNFSF13 ENST00000338784.9 1 1 0 0 0 6 25 TNFSF13:single_exon:E1 1.000000 548 TNFSF13:exon_block:E1-E2 1.000000 627 TNFSF13:boundary_CDS_coverage:after_E5 0.000000 107 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNIK ENST00000436636.7 1 1 0 0 0 33 187 TNIK:single_exon:E7 1.000000 131 TNIK:exon_block:E7-E8 1.000000 186 TNIK:boundary_CDS_coverage:after_E6 1.000000 3572 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNK2 ENST00000672887.2 1 1 0 0 0 16 85 TNK2:single_exon:E8 1.000000 147 TNK2:exon_block:E8-E9 1.000000 242 TNK2:boundary_CDS_coverage:after_E7 1.000000 2151 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNNC1 ENST00000232975.8 12 11 3 0 1 6 25 TNNC1:single_exon:E3 0.416667 147 TNNC1:exon_block:E1-E5 0.916667 480 TNNC1:boundary_CDS_coverage:after_E2 0.750000 428 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNNC2 ENST00000372555.8 2 2 0 0 0 6 25 TNNC2:single_exon:E4 0.500000 115 TNNC2:exon_block:E3-E4 1.000000 259 TNNC2:boundary_CDS_coverage:after_E2 1.000000 425 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNNI2 ENST00000381911.6 13 13 0 0 0 8 37 TNNI2:single_exon:E8 0.846154 223 TNNI2:exon_block:E7-E8 1.000000 400 TNNI2:boundary_CDS_coverage:after_E6 1.000000 270 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNNI3 ENST00000344887.10 81 67 28 0 13 8 37 TNNI3:single_exon:E7 0.444444 177 TNNI3:exon_block:E4-E8 0.876543 592 TNNI3:boundary_CDS_coverage:after_E1 0.987654 619 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNNI3K ENST00000326637.8 5 5 1 0 0 25 139 TNNI3K:single_exon:E16 0.600000 195 TNNI3K:exon_block:E16-E18 0.800000 353 TNNI3K:boundary_CDS_coverage:after_E15 1.000000 1033 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNNT1 ENST00000588981.6 34 24 16 0 10 14 73 TNNT1:single_exon:E11 0.205882 110 TNNT1:exon_block:E8-E12 0.735294 558 TNNT1:boundary_CDS_coverage:after_E1 1.000000 834 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNNT2 ENST00000656932.1 66 58 26 0 8 17 91 TNNT2:single_exon:E10 0.272727 117 TNNT2:exon_block:E9-E13 0.757576 376 TNNT2:boundary_CDS_coverage:after_E4 1.000000 827 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNNT3 ENST00000278317.11 4 3 1 0 1 16 85 TNNT3:single_exon:E10 0.750000 117 TNNT3:exon_block:E9-E10 0.750000 163 TNNT3:boundary_CDS_coverage:after_E9 1.000000 603 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNPO2 ENST00000425528.6 16 14 4 0 2 26 144 TNPO2:single_exon:E15 0.187500 172 TNPO2:exon_block:E12-E16 0.437500 804 TNPO2:boundary_CDS_coverage:after_E4 1.000000 2516 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNPO3 ENST00000265388.10 9 6 2 1 2 23 126 TNPO3:single_exon:E22 0.333333 92 TNPO3:exon_block:E19-E22 0.555556 530 TNPO3:boundary_CDS_coverage:after_E1 1.000000 2649 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNR ENST00000367674.7 13 12 2 0 1 23 127 TNR:single_exon:E14 0.230769 147 TNR:exon_block:E5-E9 0.461538 987 TNR:boundary_CDS_coverage:after_E1 1.000000 4074 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNRC6B ENST00000454349.7 66 58 9 0 7 23 127 TNRC6B:single_exon:E5 0.515152 2349 TNRC6B:exon_block:E5-E9 0.590909 2805 TNRC6B:boundary_CDS_coverage:after_E1 0.984848 5494 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TNXB ENST00000644971.2 142 125 18 0 15 44 253 TNXB:single_exon:E3 0.154930 1839 TNXB:exon_block:E2-E6 0.225352 2787 TNXB:boundary_CDS_coverage:after_E1 1.000000 12732 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOE1 ENST00000372090.6 38 28 4 8 2 8 37 TOE1:single_exon:E6 0.289474 260 TOE1:exon_block:E4-E8 0.736842 1568 TOE1:boundary_CDS_coverage:after_E2 0.763158 1335 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOGARAM1 ENST00000361462.7 14 12 7 0 2 20 109 TOGARAM1:single_exon:E1 0.285714 2278 TOGARAM1:exon_block:E1-E4 0.571429 2876 TOGARAM1:boundary_CDS_coverage:after_E2 0.714286 3116 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOM1 ENST00000449058.7 1 1 0 0 0 15 79 TOM1:single_exon:E9 1.000000 34 TOM1:exon_block:E9-E10 1.000000 128 TOM1:boundary_CDS_coverage:after_E8 1.000000 577 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOMM7 ENST00000358435.9 3 3 0 0 0 3 8 TOMM7:single_exon:E1 1.000000 173 TOMM7:exon_block:E1-E2 1.000000 222 TOMM7:boundary_CDS_coverage:after_E2 0.000000 13 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOMT ENST00000541899.3 24 20 4 1 3 3 8 TOMT:single_exon:E1 0.666667 287 TOMT:exon_block:E1-E3 1.000000 1476 TOMT:boundary_CDS_coverage:after_E1 0.416667 515 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TONSL ENST00000409379.8 82 62 26 0 20 26 145 TONSL:single_exon:E17 0.170732 761 TONSL:exon_block:E17-E21 0.329268 1373 TONSL:boundary_CDS_coverage:after_E1 1.000000 4109 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOP1 ENST00000361337.3 1 1 0 0 0 21 115 TOP1:single_exon:E13 1.000000 145 TOP1:exon_block:E13-E14 1.000000 289 TOP1:boundary_CDS_coverage:after_E12 1.000000 1132 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOP2B ENST00000264331.9 4 4 0 0 0 36 205 TOP2B:single_exon:E12 0.500000 158 TOP2B:exon_block:E12-E14 0.750000 395 TOP2B:boundary_CDS_coverage:after_E1 1.000000 4809 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOP3A ENST00000321105.10 37 29 10 0 8 19 103 TOP3A:single_exon:E18 0.162162 683 TOP3A:exon_block:E8-E12 0.405405 653 TOP3A:boundary_CDS_coverage:after_E2 0.945946 2763 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOP6BL ENST00000540737.7 2 1 1 0 1 15 79 TOP6BL:single_exon:E2 0.500000 54 TOP6BL:exon_block:E2-E3 0.500000 164 TOP6BL:boundary_CDS_coverage:after_E2 1.000000 1508 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOPORS ENST00000360538.7 21 21 0 0 0 3 8 TOPORS:single_exon:E3 0.952381 3783 TOPORS:exon_block:E2-E3 1.000000 3978 TOPORS:boundary_CDS_coverage:after_E1 1.000000 3132 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOR1A ENST00000351698.5 15 13 2 0 2 5 19 TOR1A:single_exon:E5 0.533333 1281 TOR1A:exon_block:E2-E5 1.000000 1851 TOR1A:boundary_CDS_coverage:after_E1 1.000000 818 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOR1AIP1 ENST00000606911.7 30 20 15 0 10 10 49 TOR1AIP1:single_exon:E1 0.366667 693 TOR1AIP1:exon_block:E1-E5 0.700000 957 TOR1AIP1:boundary_CDS_coverage:after_E1 0.633333 1274 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TOR1AIP2 ENST00000609928.6 1 0 0 0 0 7 31 TOR1AIP2:single_exon:E6 0.000000 102 TOR1AIP2:exon_block:E1-E2 0.000000 246 TOR1AIP2:boundary_CDS_coverage:after_E6 0.000000 755 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TP53 ENST00000269305.9 1116 986 262 2 127 11 55 TP53:single_exon:E5 0.212366 184 TP53:exon_block:E4-E8 0.847670 823 TP53:boundary_CDS_coverage:after_E1 1.000000 1179 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TP53BP1 ENST00000382044.9 5 0 0 5 0 28 157 TP53BP1:single_exon:E28 1.000000 4510 TP53BP1:exon_block:E27-E28 1.000000 4656 TP53BP1:boundary_CDS_coverage:after_E27 1.000000 185 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TP53RK ENST00000372114.4 9 9 0 0 0 2 4 TP53RK:single_exon:E1 0.666667 313 TP53RK:exon_block:E1-E2 1.000000 3180 TP53RK:boundary_CDS_coverage:after_E1 0.333333 476 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TP63 ENST00000264731.8 128 119 12 0 9 14 73 TP63:single_exon:E14 0.187500 3071 TP63:exon_block:E4-E8 0.585938 805 TP63:boundary_CDS_coverage:after_E2 0.992188 1849 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TP73 ENST00000378295.9 5 4 3 0 1 14 73 TP73:single_exon:E5 0.400000 187 TP73:exon_block:E9-E12 0.600000 499 TP73:boundary_CDS_coverage:after_E4 1.000000 1479 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPCN2 ENST00000294309.8 1 1 0 0 0 25 139 TPCN2:single_exon:E6 1.000000 107 TPCN2:exon_block:E6-E7 1.000000 180 TPCN2:boundary_CDS_coverage:after_E5 1.000000 1710 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPI1 ENST00000396705.10 11 9 4 0 2 7 31 TPI1:single_exon:E3 0.181818 85 TPI1:exon_block:E1-E5 0.818182 579 TPI1:boundary_CDS_coverage:after_E1 0.818182 632 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPK1 ENST00000360057.7 28 19 13 0 9 9 43 TPK1:single_exon:E4 0.214286 70 TPK1:exon_block:E4-E8 0.750000 498 TPK1:boundary_CDS_coverage:after_E1 1.000000 729 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPM1 ENST00000403994.9 55 54 11 0 1 10 49 TPM1:single_exon:E4 0.200000 118 TPM1:exon_block:E2-E6 0.745455 525 TPM1:boundary_CDS_coverage:after_E1 0.945455 738 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPM2 ENST00000645482.3 45 37 15 0 7 9 43 TPM2:single_exon:E3 0.244444 134 TPM2:exon_block:E1-E5 0.777778 671 TPM2:boundary_CDS_coverage:after_E1 0.888889 738 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPM3 ENST00000651641.1 35 29 7 3 3 10 49 TPM3:single_exon:E1 0.228571 199 TPM3:exon_block:E1-E5 0.714286 648 TPM3:boundary_CDS_coverage:after_E1 0.771429 738 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPM4 ENST00000643579.2 3 3 0 0 0 8 37 TPM4:single_exon:E4 0.333333 71 TPM4:exon_block:E2-E4 1.000000 323 TPM4:boundary_CDS_coverage:after_E1 1.000000 612 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPO ENST00000329066.9 121 103 30 0 18 17 91 TPO:single_exon:E8 0.140496 519 TPO:exon_block:E7-E11 0.495868 1394 TPO:boundary_CDS_coverage:after_E1 1.000000 2799 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPP1 ENST00000299427.12 221 175 70 0 46 13 67 TPP1:single_exon:E6 0.135747 179 TPP1:exon_block:E4-E8 0.479638 846 TPP1:boundary_CDS_coverage:after_E1 0.990950 1672 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPP2 ENST00000376052.5 19 16 6 0 3 30 169 TPP2:single_exon:E22 0.157895 245 TPP2:exon_block:E19-E23 0.473684 660 TPP2:boundary_CDS_coverage:after_E3 1.000000 3396 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPR ENST00000367478.9 9 0 0 9 0 51 295 TPR:single_exon:E51 1.000000 2375 TPR:exon_block:E50-E51 1.000000 2471 TPR:boundary_CDS_coverage:after_E50 1.000000 53 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPRKB ENST00000272424.11 2 2 2 0 0 5 19 TPRKB:single_exon:E5 1.000000 157 TPRKB:exon_block:E4-E5 1.000000 334 TPRKB:boundary_CDS_coverage:after_E4 1.000000 84 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TPRN ENST00000409012.6 33 33 1 0 0 4 13 TPRN:single_exon:E1 0.969697 1755 TPRN:exon_block:E1-E2 1.000000 1996 TPRN:boundary_CDS_coverage:after_E1 0.030303 408 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRA2B ENST00000453386.7 6 4 2 0 2 9 43 TRA2B:single_exon:E1 0.666667 190 TRA2B:exon_block:E1-E2 1.000000 324 TRA2B:boundary_CDS_coverage:after_E2 0.333333 694 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAF3 ENST00000392745.8 4 4 0 0 0 12 61 TRAF3:single_exon:E12 0.500000 6288 TRAF3:exon_block:E11-E12 0.750000 6463 TRAF3:boundary_CDS_coverage:after_E4 1.000000 1407 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAF3IP1 ENST00000373327.5 40 28 16 0 12 17 91 TRAF3IP1:single_exon:E5 0.400000 417 TRAF3IP1:exon_block:E4-E8 0.675000 805 TRAF3IP1:boundary_CDS_coverage:after_E1 0.975000 1950 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAF3IP2 ENST00000368761.11 20 14 7 0 6 9 43 TRAF3IP2:single_exon:E2 0.300000 837 TRAF3IP2:exon_block:E2-E5 0.800000 1298 TRAF3IP2:boundary_CDS_coverage:after_E1 1.000000 1695 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAF5 ENST00000261464.10 1 1 0 0 0 11 55 TRAF5:single_exon:E11 1.000000 2819 TRAF5:exon_block:E10-E11 1.000000 2988 TRAF5:boundary_CDS_coverage:after_E10 1.000000 572 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAF7 ENST00000326181.11 19 19 3 0 0 21 115 TRAF7:single_exon:E20 0.263158 120 TRAF7:exon_block:E17-E20 0.684211 495 TRAF7:boundary_CDS_coverage:after_E10 1.000000 998 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAIP ENST00000331456.7 13 11 4 0 2 15 79 TRAIP:single_exon:E10 0.230769 89 TRAIP:exon_block:E7-E10 0.461538 381 TRAIP:boundary_CDS_coverage:after_E1 0.846154 1309 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAK1 ENST00000327628.10 8 4 4 0 4 16 85 TRAK1:single_exon:E1 0.375000 204 TRAK1:exon_block:E1-E3 0.750000 476 TRAK1:boundary_CDS_coverage:after_E1 0.750000 2768 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAP1 ENST00000246957.10 1 1 0 0 0 18 97 TRAP1:single_exon:E16 1.000000 146 TRAP1:exon_block:E16-E17 1.000000 219 TRAP1:boundary_CDS_coverage:after_E15 1.000000 318 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC10 ENST00000291574.9 6 5 1 0 1 23 127 TRAPPC10:single_exon:E18 0.166667 101 TRAPPC10:exon_block:E18-E22 0.500000 772 TRAPPC10:boundary_CDS_coverage:after_E6 1.000000 2987 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC11 ENST00000334690.11 71 54 28 0 17 30 169 TRAPPC11:single_exon:E9 0.070423 134 TRAPPC11:exon_block:E9-E13 0.239437 535 TRAPPC11:boundary_CDS_coverage:after_E1 1.000000 3399 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC12 ENST00000324266.10 24 15 9 0 9 12 61 TRAPPC12:single_exon:E2 0.500000 1051 TRAPPC12:exon_block:E2-E6 0.625000 1534 TRAPPC12:boundary_CDS_coverage:after_E1 1.000000 2205 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC14 ENST00000316937.8 1 1 0 0 0 11 55 TRAPPC14:single_exon:E3 1.000000 130 TRAPPC14:exon_block:E3-E4 1.000000 217 TRAPPC14:boundary_CDS_coverage:after_E2 1.000000 1233 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC2 ENST00000380579.6 37 28 16 0 9 6 25 TRAPPC2:single_exon:E5 0.270270 86 TRAPPC2:exon_block:E3-E6 0.972973 2604 TRAPPC2:boundary_CDS_coverage:after_E1 1.000000 420 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC2L ENST00000696289.1 23 2 1 0 1 5 19 TRAPPC2L:single_exon:E2 0.086957 173 TRAPPC2L:exon_block:E1-E2 0.130435 230 TRAPPC2L:boundary_CDS_coverage:after_E1 0.260870 384 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC3 ENST00000373166.8 1 1 0 0 0 5 19 TRAPPC3:single_exon:E3 1.000000 100 TRAPPC3:exon_block:E2-E3 1.000000 198 TRAPPC3:boundary_CDS_coverage:after_E2 1.000000 400 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC4 ENST00000533632.6 4 3 1 0 1 5 19 TRAPPC4:single_exon:E3 0.500000 104 TRAPPC4:exon_block:E1-E5 1.000000 1425 TRAPPC4:boundary_CDS_coverage:after_E2 0.750000 307 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC6B ENST00000330149.10 11 8 5 0 3 6 25 TRAPPC6B:single_exon:E2 0.545455 68 TRAPPC6B:exon_block:E1-E4 1.000000 589 TRAPPC6B:boundary_CDS_coverage:after_E1 0.818182 393 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRAPPC9 ENST00000438773.4 80 57 21 0 14 23 127 TRAPPC9:single_exon:E2 0.175000 594 TRAPPC9:exon_block:E17-E21 0.312500 624 TRAPPC9:boundary_CDS_coverage:after_E1 0.887500 3444 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRDN ENST00000334268.9 55 41 24 0 14 41 235 TRDN:single_exon:E6 0.181818 66 TRDN:exon_block:E2-E6 0.600000 528 TRDN:boundary_CDS_coverage:after_E1 0.981818 2165 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TREM2 ENST00000373113.8 24 17 9 0 7 5 19 TREM2:single_exon:E2 0.583333 351 TREM2:exon_block:E1-E4 1.000000 710 TREM2:boundary_CDS_coverage:after_E1 1.000000 650 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TREX1 ENST00000625293.3 78 77 0 0 0 2 4 TREX1:single_exon:E2 0.987179 1016 TREX1:exon_block:E1-E2 0.987179 1096 TREX1:boundary_CDS_coverage:after_E1 1.000000 942 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRHR ENST00000518632.2 5 5 0 0 0 3 8 TRHR:single_exon:E2 1.000000 877 TRHR:exon_block:E1-E2 1.000000 1176 TRHR:boundary_CDS_coverage:after_E1 1.000000 1194 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM14 ENST00000341469.7 18 0 0 0 0 6 25 TRIM14:single_exon:E5 0.000000 93 TRIM14:exon_block:E4-E5 0.000000 256 TRIM14:boundary_CDS_coverage:after_E5 1.000000 533 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM2 ENST00000338700.10 6 5 1 1 0 12 61 TRIM2:single_exon:E10 0.333333 71 TRIM2:exon_block:E8-E10 0.500000 408 TRIM2:boundary_CDS_coverage:after_E2 0.833333 2098 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM24 ENST00000343526.9 1 1 0 0 0 19 103 TRIM24:single_exon:E13 1.000000 73 TRIM24:exon_block:E12-E13 1.000000 209 TRIM24:boundary_CDS_coverage:after_E12 1.000000 1136 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM28 ENST00000253024.10 12 10 3 0 2 17 91 TRIM28:single_exon:E7 0.250000 147 TRIM28:exon_block:E3-E7 0.500000 648 TRIM28:boundary_CDS_coverage:after_E2 0.916667 2052 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM32 ENST00000450136.2 71 71 0 0 0 2 4 TRIM32:single_exon:E2 1.000000 3638 TRIM32:exon_block:E1-E2 1.000000 3715 TRIM32:boundary_CDS_coverage:after_E1 1.000000 1959 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM33 ENST00000358465.7 2 2 0 0 0 20 109 TRIM33:single_exon:E9 1.000000 275 TRIM33:exon_block:E8-E9 1.000000 393 TRIM33:boundary_CDS_coverage:after_E8 1.000000 1961 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM36 ENST00000513154.6 1 1 0 0 0 10 49 TRIM36:single_exon:E8 1.000000 288 TRIM36:exon_block:E7-E8 1.000000 413 TRIM36:boundary_CDS_coverage:after_E7 1.000000 938 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM37 ENST00000262294.12 113 86 42 0 26 24 133 TRIM37:single_exon:E19 0.123894 309 TRIM37:exon_block:E17-E21 0.327434 909 TRIM37:boundary_CDS_coverage:after_E1 0.991150 2871 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM63 ENST00000374272.4 5 4 1 0 1 9 43 TRIM63:single_exon:E7 0.200000 125 TRIM63:exon_block:E1-E5 0.800000 967 TRIM63:boundary_CDS_coverage:after_E1 1.000000 900 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM71 ENST00000383763.6 7 7 0 0 0 4 13 TRIM71:single_exon:E4 0.571429 7465 TRIM71:exon_block:E1-E4 1.000000 8704 TRIM71:boundary_CDS_coverage:after_E3 0.571429 1449 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIM8 ENST00000643721.2 20 20 0 0 0 6 25 TRIM8:single_exon:E6 1.000000 1572 TRIM8:exon_block:E5-E6 1.000000 1688 TRIM8:boundary_CDS_coverage:after_E5 1.000000 605 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIO ENST00000344204.9 175 156 39 0 19 57 331 TRIO:single_exon:E48 0.165714 797 TRIO:exon_block:E45-E49 0.222857 1493 TRIO:boundary_CDS_coverage:after_E1 0.994286 9134 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIOBP ENST00000644935.1 100 92 7 0 8 24 132 TRIOBP:single_exon:E7 0.640000 3319 TRIOBP:exon_block:E7-E11 0.870000 4694 TRIOBP:boundary_CDS_coverage:after_E1 1.000000 7095 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIP11 ENST00000267622.8 87 76 15 0 11 21 115 TRIP11:single_exon:E11 0.540230 3030 TRIP11:exon_block:E7-E11 0.678161 3734 TRIP11:boundary_CDS_coverage:after_E2 0.988506 5736 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIP12 ENST00000675903.1 98 82 28 0 16 42 241 TRIP12:single_exon:E25 0.081633 192 TRIP12:exon_block:E22-E26 0.234694 762 TRIP12:boundary_CDS_coverage:after_E2 1.000000 6103 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIP13 ENST00000166345.8 9 6 3 0 3 13 67 TRIP13:single_exon:E8 0.333333 87 TRIP13:exon_block:E4-E8 0.777778 371 TRIP13:boundary_CDS_coverage:after_E3 1.000000 908 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIP4 ENST00000261884.8 31 28 6 0 3 13 67 TRIP4:single_exon:E7 0.225806 216 TRIP4:exon_block:E6-E10 0.548387 786 TRIP4:boundary_CDS_coverage:after_E1 0.935484 1642 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRIT1 ENST00000316891.10 17 16 4 0 1 11 55 TRIT1:single_exon:E8 0.176471 78 TRIT1:exon_block:E7-E11 0.588235 4223 TRIT1:boundary_CDS_coverage:after_E2 0.882353 1086 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRMT1 ENST00000357720.9 29 24 9 0 5 17 91 TRMT1:single_exon:E10 0.172414 70 TRMT1:exon_block:E2-E6 0.413793 789 TRMT1:boundary_CDS_coverage:after_E1 1.000000 1977 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRMT10A ENST00000394876.7 21 16 7 0 5 8 37 TRMT10A:single_exon:E3 0.238095 163 TRMT10A:exon_block:E2-E6 0.904762 668 TRMT10A:boundary_CDS_coverage:after_E1 1.000000 1017 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRMT10C ENST00000309922.7 1 1 0 0 0 2 4 TRMT10C:single_exon:E2 1.000000 1677 TRMT10C:exon_block:E1-E2 1.000000 1813 TRMT10C:boundary_CDS_coverage:after_E1 1.000000 1209 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRMT5 ENST00000261249.7 3 3 0 0 0 5 19 TRMT5:single_exon:E2 0.666667 656 TRMT5:exon_block:E2-E4 1.000000 1433 TRMT5:boundary_CDS_coverage:after_E1 1.000000 1516 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRMT61A ENST00000389749.9 1 1 0 0 0 4 13 TRMT61A:single_exon:E4 1.000000 2524 TRMT61A:exon_block:E3-E4 1.000000 2791 TRMT61A:boundary_CDS_coverage:after_E3 1.000000 269 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRMU ENST00000645190.1 171 130 72 0 41 11 55 TRMU:single_exon:E9 0.157895 145 TRMU:exon_block:E5-E9 0.549708 540 TRMU:boundary_CDS_coverage:after_E1 0.947368 1181 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRNT1 ENST00000251607.11 82 72 15 0 8 8 37 TRNT1:single_exon:E7 0.256098 254 TRNT1:exon_block:E4-E8 0.792683 1832 TRNT1:boundary_CDS_coverage:after_E1 1.000000 1302 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPA1 ENST00000262209.5 1 1 1 0 0 27 151 TRPA1:single_exon:E22 1.000000 130 TRPA1:exon_block:E21-E22 1.000000 300 TRPA1:boundary_CDS_coverage:after_E21 1.000000 802 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPC3 ENST00000379645.8 1 1 0 0 0 12 61 TRPC3:single_exon:E5 1.000000 217 TRPC3:exon_block:E4-E5 1.000000 382 TRPC3:boundary_CDS_coverage:after_E4 1.000000 1422 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPC4 ENST00000379705.8 1 0 1 0 1 11 55 TRPC4:single_exon:E3 1.000000 519 TRPC4:exon_block:E3-E4 1.000000 856 TRPC4:boundary_CDS_coverage:after_E2 1.000000 2553 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPC6 ENST00000344327.8 33 32 5 0 1 13 67 TRPC6:single_exon:E2 0.272727 775 TRPC6:exon_block:E9-E13 0.454545 1982 TRPC6:boundary_CDS_coverage:after_E1 0.969697 2623 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPM1 ENST00000256552.11 113 84 41 0 29 28 157 TRPM1:single_exon:E17 0.088496 293 TRPM1:exon_block:E17-E21 0.256637 906 TRPM1:boundary_CDS_coverage:after_E2 1.000000 4872 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPM3 ENST00000677713.2 8 7 1 0 1 26 145 TRPM3:single_exon:E24 0.500000 200 TRPM3:exon_block:E21-E24 0.625000 778 TRPM3:boundary_CDS_coverage:after_E6 1.000000 4184 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPM4 ENST00000252826.10 7 7 3 0 0 25 139 TRPM4:single_exon:E20 0.285714 178 TRPM4:exon_block:E18-E20 0.428571 486 TRPM4:boundary_CDS_coverage:after_E3 0.857143 3375 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPM6 ENST00000360774.6 67 52 23 0 15 39 223 TRPM6:single_exon:E26 0.194030 1136 TRPM6:exon_block:E22-E26 0.283582 1753 TRPM6:boundary_CDS_coverage:after_E2 1.000000 5953 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPM7 ENST00000646667.1 4 3 2 0 1 39 223 TRPM7:single_exon:E22 0.500000 175 TRPM7:exon_block:E22-E23 0.750000 302 TRPM7:boundary_CDS_coverage:after_E1 1.000000 5592 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPS1 ENST00000395715.8 173 162 15 0 11 7 31 TRPS1:single_exon:E4 0.312139 1130 TRPS1:exon_block:E3-E7 0.994220 9375 TRPS1:boundary_CDS_coverage:after_E2 1.000000 3845 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPV1 ENST00000572705.2 1 1 0 0 0 17 91 TRPV1:single_exon:E7 1.000000 299 TRPV1:exon_block:E6-E7 1.000000 440 TRPV1:boundary_CDS_coverage:after_E6 1.000000 1772 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPV3 ENST00000576742.6 10 10 2 0 0 18 97 TRPV3:single_exon:E13 0.700000 166 TRPV3:exon_block:E13-E15 0.900000 508 TRPV3:boundary_CDS_coverage:after_E9 1.000000 1128 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPV4 ENST00000261740.7 69 67 9 0 2 16 85 TRPV4:single_exon:E15 0.188406 122 TRPV4:exon_block:E2-E6 0.463768 1183 TRPV4:boundary_CDS_coverage:after_E1 1.000000 2613 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPV5 ENST00000265310.6 1 1 1 0 0 15 79 TRPV5:single_exon:E14 1.000000 107 TRPV5:exon_block:E13-E14 1.000000 376 TRPV5:boundary_CDS_coverage:after_E13 1.000000 399 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRPV6 ENST00000359396.9 24 21 8 0 3 15 79 TRPV6:single_exon:E2 0.125000 98 TRPV6:exon_block:E2-E6 0.500000 634 TRPV6:boundary_CDS_coverage:after_E1 0.916667 2047 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TRRAP ENST00000456197.2 31 29 6 0 2 73 427 TRRAP:single_exon:E23 0.193548 200 TRRAP:exon_block:E21-E25 0.387097 969 TRRAP:boundary_CDS_coverage:after_E4 1.000000 11358 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSC1 ENST00000298552.9 739 631 186 0 108 23 127 TSC1:single_exon:E15 0.173207 559 TSC1:exon_block:E15-E19 0.389716 1064 TSC1:boundary_CDS_coverage:after_E1 1.000000 3492 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSC2 ENST00000219476.9 1411 1136 477 1 272 42 241 TSC2:single_exon:E34 0.092133 488 TSC2:exon_block:E34-E38 0.220411 984 TSC2:boundary_CDS_coverage:after_E1 1.000000 5421 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSEN15 ENST00000645668.2 2 2 1 0 0 5 19 TSEN15:single_exon:E3 0.500000 136 TSEN15:exon_block:E3-E4 1.000000 278 TSEN15:boundary_CDS_coverage:after_E2 1.000000 296 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSEN2 ENST00000284995.11 25 21 11 0 4 12 61 TSEN2:single_exon:E5 0.280000 523 TSEN2:exon_block:E5-E9 0.720000 828 TSEN2:boundary_CDS_coverage:after_E1 1.000000 1395 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSEN34 ENST00000396388.3 2 2 0 0 0 4 13 TSEN34:single_exon:E1 0.500000 300 TSEN34:exon_block:E1-E4 1.000000 2160 TSEN34:boundary_CDS_coverage:after_E3 0.500000 185 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSEN54 ENST00000333213.11 84 70 16 0 14 11 55 TSEN54:single_exon:E8 0.476190 629 TSEN54:exon_block:E4-E8 0.702381 967 TSEN54:boundary_CDS_coverage:after_E1 0.964286 1522 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSFM ENST00000652027.2 87 70 19 1 16 6 25 TSFM:single_exon:E6 0.367816 1411 TSFM:exon_block:E2-E6 0.885057 1925 TSFM:boundary_CDS_coverage:after_E1 0.931034 918 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSGA10 ENST00000393483.8 1 1 1 0 0 21 115 TSGA10:single_exon:E8 1.000000 171 TSGA10:exon_block:E8-E9 1.000000 249 TSGA10:boundary_CDS_coverage:after_E7 1.000000 1884 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSHB ENST00000256592.3 12 10 2 0 2 3 8 TSHB:single_exon:E2 0.500000 163 TSHB:exon_block:E2-E3 1.000000 493 TSHB:boundary_CDS_coverage:after_E1 1.000000 414 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSHR ENST00000298171.7 104 95 17 0 9 10 49 TSHR:single_exon:E10 0.605769 3367 TSHR:exon_block:E6-E10 0.836538 3781 TSHR:boundary_CDS_coverage:after_E1 0.951923 2122 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSHZ1 ENST00000580243.3 1 1 0 0 0 2 4 TSHZ1:single_exon:E2 1.000000 4497 TSHZ1:exon_block:E1-E2 1.000000 5617 TSHZ1:boundary_CDS_coverage:after_E1 1.000000 3191 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSHZ3 ENST00000240587.5 1 1 0 0 0 2 4 TSHZ3:single_exon:E2 1.000000 4808 TSHZ3:exon_block:E1-E2 1.000000 5065 TSHZ3:boundary_CDS_coverage:after_E1 1.000000 3203 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSPAN1 ENST00000372003.6 209 0 0 0 0 9 43 TSPAN1:single_exon:E3 0.000000 65 TSPAN1:exon_block:E5-E6 0.000000 174 TSPAN1:boundary_CDS_coverage:after_E8 1.000000 45 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSPAN12 ENST00000222747.8 43 32 17 0 11 8 37 TSPAN12:single_exon:E6 0.279070 108 TSPAN12:exon_block:E3-E7 0.837209 546 TSPAN12:boundary_CDS_coverage:after_E1 1.000000 915 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSPAN7 ENST00000378482.7 5 4 1 0 1 8 36 TSPAN7:single_exon:E3 0.400000 75 TSPAN7:exon_block:E3-E6 1.000000 411 TSPAN7:boundary_CDS_coverage:after_E2 1.000000 477 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSPEAR ENST00000323084.9 70 60 14 0 10 12 61 TSPEAR:single_exon:E9 0.157143 230 TSPEAR:exon_block:E7-E11 0.614286 934 TSPEAR:boundary_CDS_coverage:after_E1 0.928571 1925 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSPOAP1 ENST00000343736.9 5 5 0 0 0 32 180 TSPOAP1:single_exon:E17 0.400000 831 TSPOAP1:exon_block:E17-E19 0.600000 1361 TSPOAP1:boundary_CDS_coverage:after_E2 1.000000 5130 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSPYL1 ENST00000368608.4 2 2 0 0 0 1 1 TSPYL1:single_exon:E1 1.000000 5073 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TSR2 ENST00000375151.5 10 1 0 9 0 5 19 TSR2:single_exon:E5 0.900000 3617 TSR2:exon_block:E3-E5 1.000000 3886 TSR2:boundary_CDS_coverage:after_E2 1.000000 401 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTBK1 ENST00000259750.9 2 2 0 0 0 15 79 TTBK1:single_exon:E9 0.500000 126 TTBK1:exon_block:E9-E13 1.000000 1251 TTBK1:boundary_CDS_coverage:after_E8 1.000000 3228 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTBK2 ENST00000267890.11 10 10 0 0 0 15 79 TTBK2:single_exon:E12 0.500000 212 TTBK2:exon_block:E12-E15 0.900000 9603 TTBK2:boundary_CDS_coverage:after_E3 1.000000 3515 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC1 ENST00000231238.10 1 1 0 0 0 8 37 TTC1:single_exon:E8 1.000000 612 TTC1:exon_block:E7-E8 1.000000 667 TTC1:boundary_CDS_coverage:after_E7 1.000000 131 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC12 ENST00000529221.6 8 7 1 0 1 22 121 TTC12:single_exon:E19 0.250000 102 TTC12:exon_block:E17-E19 0.500000 270 TTC12:boundary_CDS_coverage:after_E4 1.000000 1871 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC14 ENST00000296015.9 24 0 0 0 0 12 61 TTC14:single_exon:E7 0.000000 72 TTC14:exon_block:E7-E8 0.000000 192 TTC14:boundary_CDS_coverage:after_E11 1.000000 910 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC19 ENST00000261647.10 27 18 14 0 8 10 49 TTC19:single_exon:E6 0.185185 62 TTC19:exon_block:E4-E8 0.666667 408 TTC19:boundary_CDS_coverage:after_E1 0.888889 956 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC21A ENST00000683103.1 8 4 4 0 4 29 163 TTC21A:single_exon:E23 0.250000 151 TTC21A:exon_block:E23-E25 0.375000 506 TTC21A:boundary_CDS_coverage:after_E3 1.000000 3671 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC21B ENST00000243344.8 140 107 49 0 33 29 163 TTC21B:single_exon:E9 0.085714 193 TTC21B:exon_block:E9-E13 0.271429 780 TTC21B:boundary_CDS_coverage:after_E1 0.985714 3927 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC29 ENST00000325106.9 11 7 4 1 3 13 67 TTC29:single_exon:E7 0.181818 213 TTC29:exon_block:E4-E8 0.636364 793 TTC29:boundary_CDS_coverage:after_E1 1.000000 1425 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC5 ENST00000258821.8 9 8 4 0 1 10 49 TTC5:single_exon:E5 0.333333 92 TTC5:exon_block:E4-E7 0.777778 447 TTC5:boundary_CDS_coverage:after_E1 1.000000 1269 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC7A ENST00000319190.11 86 67 31 0 19 20 109 TTC7A:single_exon:E2 0.093023 164 TTC7A:exon_block:E14-E18 0.267442 584 TTC7A:boundary_CDS_coverage:after_E1 0.953488 2390 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTC8 ENST00000380656.7 76 55 40 0 21 15 79 TTC8:single_exon:E8 0.118421 86 TTC8:exon_block:E6-E10 0.421053 420 TTC8:boundary_CDS_coverage:after_E1 0.921053 1431 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTI1 ENST00000373447.8 9 7 5 0 2 8 37 TTI1:single_exon:E2 0.444444 2343 TTI1:exon_block:E2-E6 1.000000 3039 TTI1:boundary_CDS_coverage:after_E1 1.000000 3267 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTI2 ENST00000431156.7 8 7 1 0 1 8 37 TTI2:single_exon:E5 0.375000 188 TTI2:exon_block:E2-E5 0.875000 1214 TTI2:boundary_CDS_coverage:after_E1 1.000000 1524 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTLL5 ENST00000298832.14 98 78 32 0 20 32 181 TTLL5:single_exon:E19 0.081633 158 TTLL5:exon_block:E17-E21 0.255102 741 TTLL5:boundary_CDS_coverage:after_E2 1.000000 3769 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTN ENST00000589042.5 5807 5264 799 0 543 363 2167 TTN:single_exon:E326 0.205097 17106 TTN:exon_block:E324-E328 0.234200 18882 TTN:boundary_CDS_coverage:after_E1 1.000000 107973 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTPA ENST00000260116.5 91 78 22 0 13 5 19 TTPA:single_exon:E1 0.318681 236 TTPA:exon_block:E1-E5 1.000000 2633 TTPA:boundary_CDS_coverage:after_E1 0.714286 630 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TTR ENST00000237014.8 133 133 24 0 0 4 13 TTR:single_exon:E3 0.496241 136 TTR:exon_block:E2-E4 1.000000 521 TTR:boundary_CDS_coverage:after_E1 1.000000 372 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUB ENST00000299506.3 12 9 6 0 3 12 61 TUB:single_exon:E10 0.250000 99 TUB:exon_block:E7-E11 0.666667 700 TUB:boundary_CDS_coverage:after_E3 0.916667 1265 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBA1A ENST00000301071.12 195 194 13 0 1 4 13 TUBA1A:single_exon:E4 0.723077 1196 TUBA1A:exon_block:E1-E4 1.000000 1672 TUBA1A:boundary_CDS_coverage:after_E1 1.000000 1350 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBA3D ENST00000321253.7 2 2 0 0 0 5 19 TUBA3D:single_exon:E2 1.000000 223 TUBA3D:exon_block:E1-E2 1.000000 307 TUBA3D:boundary_CDS_coverage:after_E1 1.000000 1347 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBA3E ENST00000312988.9 1 1 0 0 0 5 19 TUBA3E:single_exon:E4 1.000000 681 TUBA3E:exon_block:E3-E4 1.000000 830 TUBA3E:boundary_CDS_coverage:after_E3 1.000000 975 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBA4A ENST00000248437.9 19 19 2 0 0 4 13 TUBA4A:single_exon:E4 0.789474 1614 TUBA4A:exon_block:E2-E4 1.000000 1986 TUBA4A:boundary_CDS_coverage:after_E1 1.000000 1341 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBA4B ENST00000490341.3 1 0 0 0 0 4 13 TUBA4B:single_exon:E2 0.000000 46 TUBA4B:exon_block:E2-E3 0.000000 180 TUBA4B:boundary_CDS_coverage:after_E3 0.000000 531 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBA8 ENST00000330423.8 1 1 0 0 0 5 19 TUBA8:single_exon:E2 1.000000 223 TUBA8:exon_block:E1-E2 1.000000 283 TUBA8:boundary_CDS_coverage:after_E1 1.000000 1344 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB ENST00000327892.13 36 36 0 0 0 4 13 TUBB:single_exon:E4 0.777778 2083 TUBB:exon_block:E1-E4 1.000000 2515 TUBB:boundary_CDS_coverage:after_E1 0.944444 1275 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB1 ENST00000217133.2 17 15 3 0 2 4 13 TUBB1:single_exon:E4 0.705882 2950 TUBB1:exon_block:E1-E4 1.000000 3321 TUBB1:boundary_CDS_coverage:after_E1 1.000000 1296 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB2A ENST00000333628.4 37 37 1 0 0 4 13 TUBB2A:single_exon:E4 0.945946 1258 TUBB2A:exon_block:E1-E4 1.000000 1616 TUBB2A:boundary_CDS_coverage:after_E1 0.972973 1278 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB2B ENST00000259818.8 70 70 3 0 0 4 13 TUBB2B:single_exon:E4 0.828571 1535 TUBB2B:exon_block:E1-E4 1.000000 1922 TUBB2B:boundary_CDS_coverage:after_E2 0.885714 1169 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB3 ENST00000315491.12 54 54 0 0 0 4 13 TUBB3:single_exon:E4 0.870370 1369 TUBB3:exon_block:E2-E4 1.000000 1589 TUBB3:boundary_CDS_coverage:after_E1 1.000000 1293 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB4A ENST00000264071.7 46 46 2 0 0 4 13 TUBB4A:single_exon:E4 0.913043 1903 TUBB4A:exon_block:E1-E4 1.000000 2277 TUBB4A:boundary_CDS_coverage:after_E2 0.934783 1166 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB4B ENST00000340384.5 5 5 0 0 0 4 13 TUBB4B:single_exon:E4 0.800000 1212 TUBB4B:exon_block:E2-E4 1.000000 1432 TUBB4B:boundary_CDS_coverage:after_E1 1.000000 1278 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB6 ENST00000317702.10 2 2 0 0 0 4 13 TUBB6:single_exon:E4 1.000000 1550 TUBB6:exon_block:E3-E4 1.000000 1661 TUBB6:boundary_CDS_coverage:after_E3 1.000000 1061 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBB8 ENST00000568584.6 41 41 0 0 0 4 13 TUBB8:single_exon:E4 0.902439 1227 TUBB8:exon_block:E1-E4 1.000000 1562 TUBB8:boundary_CDS_coverage:after_E1 0.951220 1275 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBG1 ENST00000251413.8 14 14 4 0 0 11 55 TUBG1:single_exon:E8 0.357143 150 TUBG1:exon_block:E7-E11 0.714286 947 TUBG1:boundary_CDS_coverage:after_E2 0.928571 1191 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBGCP2 ENST00000252936.8 2 1 1 0 1 18 97 TUBGCP2:single_exon:E14 0.500000 121 TUBGCP2:exon_block:E13-E14 0.500000 250 TUBGCP2:boundary_CDS_coverage:after_E6 1.000000 1882 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBGCP4 ENST00000564079.6 44 35 15 0 9 18 97 TUBGCP4:single_exon:E8 0.136364 166 TUBGCP4:exon_block:E12-E16 0.363636 677 TUBGCP4:boundary_CDS_coverage:after_E1 0.954545 1920 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUBGCP6 ENST00000248846.10 135 110 41 1 24 25 139 TUBGCP6:single_exon:E16 0.274074 1624 TUBGCP6:exon_block:E16-E20 0.422222 2142 TUBGCP6:boundary_CDS_coverage:after_E1 0.896296 4716 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUFM ENST00000313511.8 6 6 1 0 0 10 49 TUFM:single_exon:E4 0.166667 105 TUFM:exon_block:E2-E6 0.666667 765 TUFM:boundary_CDS_coverage:after_E1 1.000000 1313 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUFT1 ENST00000368849.8 2 1 1 0 1 13 67 TUFT1:single_exon:E7 0.500000 114 TUFT1:exon_block:E6-E7 0.500000 180 TUFT1:boundary_CDS_coverage:after_E1 1.000000 1110 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TULP1 ENST00000229771.11 151 124 42 0 27 15 79 TULP1:single_exon:E10 0.125828 171 TULP1:exon_block:E10-E14 0.503311 667 TULP1:boundary_CDS_coverage:after_E1 0.993377 1579 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TULP3 ENST00000448120.7 8 5 3 0 3 11 55 TULP3:single_exon:E11 0.250000 1828 TULP3:exon_block:E7-E11 0.625000 2327 TULP3:boundary_CDS_coverage:after_E1 1.000000 1285 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUSC3 ENST00000503731.6 19 16 5 0 3 11 54 TUSC3:single_exon:E2 0.368421 170 TUSC3:exon_block:E2-E6 0.736842 660 TUSC3:boundary_CDS_coverage:after_E1 0.894737 906 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TUT1 ENST00000476907.6 1 1 0 0 0 9 43 TUT1:single_exon:E7 1.000000 111 TUT1:exon_block:E7-E8 1.000000 204 TUT1:boundary_CDS_coverage:after_E6 1.000000 1352 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TWIST1 ENST00000242261.6 96 95 0 1 0 2 3 TWIST1:single_exon:E1 1.000000 966 TWIST1:exon_block:E1-E2 1.000000 1630 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TWIST2 ENST00000612363.2 7 7 0 0 0 2 3 TWIST2:single_exon:E1 1.000000 649 TWIST2:exon_block:E1-E2 1.000000 1342 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TWNK ENST00000311916.8 82 81 2 0 1 5 19 TWNK:single_exon:E1 0.646341 1911 TWNK:exon_block:E1-E5 1.000000 3616 TWNK:boundary_CDS_coverage:after_E1 0.353659 809 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TXN2 ENST00000216185.7 1 1 0 0 0 4 13 TXN2:single_exon:E2 1.000000 263 TXN2:exon_block:E1-E2 1.000000 340 TXN2:boundary_CDS_coverage:after_E1 1.000000 498 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TXNDC15 ENST00000358387.9 7 6 1 0 1 5 19 TXNDC15:single_exon:E3 0.285714 164 TXNDC15:exon_block:E1-E5 1.000000 3090 TXNDC15:boundary_CDS_coverage:after_E1 1.000000 977 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TXNL4A ENST00000269601.10 9 6 1 0 1 3 8 TXNL4A:single_exon:E1 0.444444 324 TXNL4A:exon_block:E1-E3 0.777778 3472 TXNL4A:boundary_CDS_coverage:after_E2 0.333333 169 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TYK2 ENST00000525621.6 46 30 19 0 16 25 139 TYK2:single_exon:E21 0.086957 119 TYK2:exon_block:E20-E24 0.282609 714 TYK2:boundary_CDS_coverage:after_E1 1.000000 3561 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TYMP ENST00000252029.8 196 154 59 1 41 10 49 TYMP:single_exon:E8 0.153061 231 TYMP:exon_block:E5-E9 0.556122 784 TYMP:boundary_CDS_coverage:after_E1 1.000000 1446 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TYMS ENST00000323274.15 5 4 2 0 1 7 31 TYMS:single_exon:E4 0.600000 102 TYMS:exon_block:E3-E7 1.000000 1244 TYMS:boundary_CDS_coverage:after_E2 1.000000 660 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TYR ENST00000263321.6 311 290 39 0 21 5 19 TYR:single_exon:E1 0.549839 898 TYR:exon_block:E1-E5 0.987138 2062 TYR:boundary_CDS_coverage:after_E1 0.456592 768 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TYROBP ENST00000262629.9 7 6 0 0 1 5 19 TYROBP:single_exon:E3 0.428571 135 TYROBP:exon_block:E1-E4 0.857143 343 TYROBP:boundary_CDS_coverage:after_E1 0.857143 278 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true TYRP1 ENST00000388918.10 91 76 21 0 15 8 37 TYRP1:single_exon:E2 0.241758 470 TYRP1:exon_block:E2-E6 0.901099 1346 TYRP1:boundary_CDS_coverage:after_E1 1.000000 1611 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true U2AF1 ENST00000291552.9 1 1 0 0 0 8 37 U2AF1:single_exon:E6 1.000000 134 U2AF1:exon_block:E6-E7 1.000000 227 U2AF1:boundary_CDS_coverage:after_E5 1.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true U2AF2 ENST00000308924.9 12 12 2 0 0 12 61 U2AF2:single_exon:E5 0.500000 152 U2AF2:exon_block:E5-E8 1.000000 488 U2AF2:boundary_CDS_coverage:after_E4 1.000000 1091 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBA1 ENST00000335972.11 1 1 0 0 0 26 145 UBA1:single_exon:E15 1.000000 166 UBA1:exon_block:E14-E15 1.000000 322 UBA1:boundary_CDS_coverage:after_E14 1.000000 1599 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBA2 ENST00000246548.9 28 23 8 0 5 17 91 UBA2:single_exon:E1 0.214286 190 UBA2:exon_block:E1-E5 0.500000 511 UBA2:boundary_CDS_coverage:after_E1 0.785714 1782 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBA5 ENST00000356232.10 39 36 9 0 3 12 61 UBA5:single_exon:E8 0.205128 128 UBA5:exon_block:E6-E10 0.512821 530 UBA5:boundary_CDS_coverage:after_E1 0.846154 1051 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBAP1 ENST00000297661.9 21 19 2 1 0 7 31 UBAP1:single_exon:E4 0.857143 924 UBAP1:exon_block:E1-E5 1.000000 1471 UBAP1:boundary_CDS_coverage:after_E3 0.904762 1347 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBAP1L ENST00000559089.6 5 2 3 0 3 6 25 UBAP1L:single_exon:E3 0.400000 579 UBAP1L:exon_block:E2-E5 1.000000 1184 UBAP1L:boundary_CDS_coverage:after_E2 1.000000 1023 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBAP2L ENST00000428931.6 14 12 6 0 2 27 151 UBAP2L:single_exon:E7 0.214286 46 UBAP2L:exon_block:E17-E20 0.285714 533 UBAP2L:boundary_CDS_coverage:after_E1 1.000000 3261 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBE2A ENST00000371558.7 20 14 8 0 6 6 25 UBE2A:single_exon:E5 0.300000 89 UBE2A:exon_block:E1-E5 0.800000 479 UBE2A:boundary_CDS_coverage:after_E1 0.750000 412 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBE2T ENST00000646651.1 11 6 4 0 5 7 31 UBE2T:single_exon:E3 0.363636 70 UBE2T:exon_block:E2-E5 0.818182 448 UBE2T:boundary_CDS_coverage:after_E1 1.000000 591 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBE3A ENST00000648336.2 274 259 31 4 11 13 67 UBE3A:single_exon:E6 0.372263 1247 UBE3A:exon_block:E5-E9 0.645985 2062 UBE3A:boundary_CDS_coverage:after_E4 1.000000 2554 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBE3B ENST00000342494.8 68 50 26 0 18 28 157 UBE3B:single_exon:E13 0.088235 164 UBE3B:exon_block:E17-E21 0.250000 623 UBE3B:boundary_CDS_coverage:after_E1 1.000000 3204 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBE3C ENST00000348165.10 1 1 1 0 0 23 127 UBE3C:single_exon:E15 1.000000 88 UBE3C:exon_block:E15-E16 1.000000 186 UBE3C:boundary_CDS_coverage:after_E14 1.000000 1335 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBE4A ENST00000252108.8 8 7 1 0 1 20 109 UBE4A:single_exon:E15 0.250000 114 UBE4A:exon_block:E6-E9 0.500000 889 UBE4A:boundary_CDS_coverage:after_E2 1.000000 3077 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBIAD1 ENST00000376810.6 13 13 3 0 0 2 4 UBIAD1:single_exon:E1 0.615385 863 UBIAD1:exon_block:E1-E2 1.000000 3654 UBIAD1:boundary_CDS_coverage:after_E1 0.461538 485 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBN1 ENST00000262376.11 1 1 0 0 0 18 97 UBN1:single_exon:E15 1.000000 1224 UBN1:exon_block:E14-E15 1.000000 1267 UBN1:boundary_CDS_coverage:after_E14 1.000000 1602 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBN2 ENST00000473989.8 1 0 1 0 1 18 97 UBN2:single_exon:E12 1.000000 51 UBN2:exon_block:E12-E13 1.000000 94 UBN2:boundary_CDS_coverage:after_E12 1.000000 2017 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBOX5 ENST00000217173.7 5 0 0 0 5 5 19 UBOX5:single_exon:E2 0.000000 95 UBOX5:exon_block:E1-E2 0.000000 195 UBOX5:boundary_CDS_coverage:after_E1 1.000000 1623 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBQLN1 ENST00000376395.9 1 1 0 0 0 11 55 UBQLN1:single_exon:E3 1.000000 116 UBQLN1:exon_block:E2-E3 1.000000 268 UBQLN1:boundary_CDS_coverage:after_E2 1.000000 1435 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBQLN2 ENST00000338222.7 7 7 0 0 0 1 1 UBQLN2:single_exon:E1 1.000000 4242 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBQLN4 ENST00000368309.4 1 1 0 0 0 11 55 UBQLN4:single_exon:E6 1.000000 226 UBQLN4:exon_block:E6-E7 1.000000 366 UBQLN4:boundary_CDS_coverage:after_E5 1.000000 903 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBR1 ENST00000290650.9 72 46 37 0 26 47 271 UBR1:single_exon:E12 0.083333 158 UBR1:exon_block:E11-E15 0.250000 667 UBR1:boundary_CDS_coverage:after_E1 1.000000 5166 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBR2 ENST00000372901.2 1 0 0 0 0 47 271 UBR2:single_exon:E24 0.000000 49 UBR2:exon_block:E43-E44 0.000000 135 UBR2:boundary_CDS_coverage:after_E46 1.000000 139 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBR4 ENST00000375254.8 3 3 0 0 0 106 625 UBR4:single_exon:E70 0.333333 145 UBR4:exon_block:E44-E48 0.666667 913 UBR4:boundary_CDS_coverage:after_E43 1.000000 9249 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBR5 ENST00000520539.6 6 5 2 0 1 59 343 UBR5:single_exon:E54 0.166667 85 UBR5:exon_block:E28-E29 0.333333 239 UBR5:boundary_CDS_coverage:after_E5 1.000000 8011 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBR7 ENST00000013070.11 8 6 2 0 2 11 55 UBR7:single_exon:E6 0.250000 106 UBR7:exon_block:E1-E2 0.500000 320 UBR7:boundary_CDS_coverage:after_E1 0.750000 1125 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UBTF ENST00000436088.6 7 6 1 0 1 21 115 UBTF:single_exon:E7 0.285714 121 UBTF:exon_block:E7-E10 0.571429 508 UBTF:boundary_CDS_coverage:after_E6 1.000000 1753 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UCHL1 ENST00000284440.9 25 22 11 0 3 9 43 UCHL1:single_exon:E5 0.200000 86 UCHL1:exon_block:E1-E5 0.720000 460 UCHL1:boundary_CDS_coverage:after_E1 0.840000 636 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UCN ENST00000296099.2 1 0 0 0 0 2 4 UCN:single_exon:E1 0.000000 286 UCN:exon_block:E1-E2 0.000000 795 UCN:boundary_CDS_coverage:after_E1 0.000000 372 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UFC1 ENST00000368003.6 6 4 2 0 2 6 25 UFC1:single_exon:E3 0.333333 64 UFC1:exon_block:E1-E4 0.833333 352 UFC1:boundary_CDS_coverage:after_E1 0.833333 378 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UFM1 ENST00000239878.9 4 2 2 0 1 6 25 UFM1:single_exon:E1 0.500000 71 UFM1:exon_block:E1-E2 0.500000 128 UFM1:boundary_CDS_coverage:after_E1 0.500000 253 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UFSP2 ENST00000264689.11 9 9 0 0 0 12 61 UFSP2:single_exon:E11 0.333333 125 UFSP2:exon_block:E8-E12 0.777778 1434 UFSP2:boundary_CDS_coverage:after_E2 1.000000 1325 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGDH ENST00000316423.11 27 26 7 0 1 12 61 UGDH:single_exon:E11 0.148148 111 UGDH:exon_block:E2-E6 0.518519 818 UGDH:boundary_CDS_coverage:after_E1 1.000000 1482 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGGT1 ENST00000259253.11 9 9 5 0 0 41 235 UGGT1:single_exon:E31 0.111111 86 UGGT1:exon_block:E19-E20 0.222222 220 UGGT1:boundary_CDS_coverage:after_E3 1.000000 4388 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGP2 ENST00000337130.10 1 1 0 0 0 10 49 UGP2:single_exon:E2 1.000000 128 UGP2:exon_block:E2-E3 1.000000 236 UGP2:boundary_CDS_coverage:after_E1 1.000000 1505 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A1 ENST00000305208.10 80 69 14 1 7 5 19 UGT1A1:single_exon:E1 0.462500 882 UGT1A1:exon_block:E1-E5 0.962500 2361 UGT1A1:boundary_CDS_coverage:after_E1 0.525000 735 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A10 ENST00000344644.10 80 35 12 0 45 5 19 UGT1A10:single_exon:E4 0.137500 220 UGT1A10:exon_block:E2-E5 0.500000 1479 UGT1A10:boundary_CDS_coverage:after_E1 1.000000 735 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A3 ENST00000482026.6 80 35 12 0 45 5 19 UGT1A3:single_exon:E4 0.137500 220 UGT1A3:exon_block:E2-E5 0.500000 1479 UGT1A3:boundary_CDS_coverage:after_E1 1.000000 735 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A4 ENST00000373409.8 80 35 12 0 45 5 19 UGT1A4:single_exon:E4 0.137500 220 UGT1A4:exon_block:E2-E5 0.500000 1479 UGT1A4:boundary_CDS_coverage:after_E1 1.000000 735 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A5 ENST00000373414.4 80 35 12 0 45 5 19 UGT1A5:single_exon:E4 0.137500 220 UGT1A5:exon_block:E2-E5 0.500000 1479 UGT1A5:boundary_CDS_coverage:after_E1 1.000000 735 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A6 ENST00000305139.11 80 35 12 0 45 5 19 UGT1A6:single_exon:E4 0.137500 220 UGT1A6:exon_block:E2-E5 0.500000 1479 UGT1A6:boundary_CDS_coverage:after_E1 1.000000 735 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A7 ENST00000373426.4 80 35 12 0 45 5 19 UGT1A7:single_exon:E4 0.137500 220 UGT1A7:exon_block:E2-E5 0.500000 1479 UGT1A7:boundary_CDS_coverage:after_E1 1.000000 735 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A8 ENST00000373450.5 80 35 12 0 45 5 19 UGT1A8:single_exon:E4 0.137500 220 UGT1A8:exon_block:E2-E5 0.500000 1479 UGT1A8:boundary_CDS_coverage:after_E1 1.000000 735 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UGT1A9 ENST00000354728.5 80 35 12 0 45 5 19 UGT1A9:single_exon:E4 0.137500 220 UGT1A9:exon_block:E2-E5 0.500000 1479 UGT1A9:boundary_CDS_coverage:after_E1 1.000000 735 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UHMK1 ENST00000489294.2 1 1 0 0 0 8 37 UHMK1:single_exon:E8 1.000000 7228 UHMK1:exon_block:E7-E8 1.000000 7317 UHMK1:boundary_CDS_coverage:after_E7 1.000000 144 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UIMC1 ENST00000511320.6 1 0 1 0 1 15 79 UIMC1:single_exon:E12 1.000000 172 UIMC1:exon_block:E12-E13 1.000000 236 UIMC1:boundary_CDS_coverage:after_E11 1.000000 481 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ULK2 ENST00000395544.9 1 1 0 0 0 27 151 ULK2:single_exon:E18 1.000000 287 ULK2:exon_block:E17-E18 1.000000 368 ULK2:boundary_CDS_coverage:after_E17 1.000000 1586 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UMOD ENST00000396138.9 106 106 3 0 0 11 55 UMOD:single_exon:E3 0.849057 777 UMOD:exon_block:E3-E7 0.990566 1489 UMOD:boundary_CDS_coverage:after_E2 1.000000 1832 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UMPS ENST00000232607.7 5 5 0 0 0 6 25 UMPS:single_exon:E3 0.600000 672 UMPS:exon_block:E2-E4 1.000000 1002 UMPS:boundary_CDS_coverage:after_E1 1.000000 1284 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNC119 ENST00000335765.9 1 1 1 0 0 5 19 UNC119:single_exon:E4 1.000000 173 UNC119:exon_block:E3-E4 1.000000 276 UNC119:boundary_CDS_coverage:after_E3 1.000000 283 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNC13A ENST00000519716.7 8 8 1 0 0 44 253 UNC13A:single_exon:E20 0.375000 116 UNC13A:exon_block:E16-E20 0.750000 876 UNC13A:boundary_CDS_coverage:after_E3 1.000000 4957 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNC13D ENST00000207549.9 192 138 74 0 54 32 181 UNC13D:single_exon:E20 0.072917 121 UNC13D:exon_block:E19-E23 0.208333 702 UNC13D:boundary_CDS_coverage:after_E1 0.979167 3153 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNC45A ENST00000418476.2 12 8 7 0 4 20 109 UNC45A:single_exon:E7 0.166667 169 UNC45A:exon_block:E7-E10 0.333333 813 UNC45A:boundary_CDS_coverage:after_E1 1.000000 2781 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNC45B ENST00000394570.7 6 5 3 0 1 20 109 UNC45B:single_exon:E11 0.333333 95 UNC45B:exon_block:E17-E19 0.666667 390 UNC45B:boundary_CDS_coverage:after_E10 1.000000 1335 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNC79 ENST00000695012.1 14 13 4 0 1 52 301 UNC79:single_exon:E28 0.142857 287 UNC79:exon_block:E28-E32 0.285714 2004 UNC79:boundary_CDS_coverage:after_E5 1.000000 7409 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNC80 ENST00000673920.1 147 104 58 0 43 65 379 UNC80:single_exon:E57 0.040816 185 UNC80:exon_block:E10-E14 0.142857 1143 UNC80:boundary_CDS_coverage:after_E2 1.000000 9831 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNC93B1 ENST00000227471.7 14 10 3 0 4 11 55 UNC93B1:single_exon:E6 0.142857 94 UNC93B1:exon_block:E2-E6 0.500000 685 UNC93B1:boundary_CDS_coverage:after_E1 1.000000 1695 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UNG ENST00000242576.7 23 19 6 0 4 7 31 UNG:single_exon:E6 0.260870 179 UNG:exon_block:E2-E6 0.913043 669 UNG:boundary_CDS_coverage:after_E1 0.956522 807 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UPB1 ENST00000326010.10 21 16 9 0 5 10 49 UPB1:single_exon:E2 0.190476 172 UPB1:exon_block:E5-E9 0.571429 612 UPB1:boundary_CDS_coverage:after_E1 0.904762 1048 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UPF1 ENST00000262803.10 7 6 0 0 0 24 132 UPF1:single_exon:E20 0.142857 82 UPF1:exon_block:E12-E15 0.428571 638 UPF1:boundary_CDS_coverage:after_E5 1.000000 2544 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UPF2 ENST00000357604.10 1 1 0 0 0 22 121 UPF2:single_exon:E10 1.000000 114 UPF2:exon_block:E9-E10 1.000000 223 UPF2:boundary_CDS_coverage:after_E9 1.000000 1863 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UPF3B ENST00000276201.7 36 34 8 0 2 11 55 UPF3B:single_exon:E10 0.305556 295 UPF3B:exon_block:E6-E10 0.638889 722 UPF3B:boundary_CDS_coverage:after_E1 0.916667 1293 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UPK3A ENST00000216211.9 1 0 1 0 1 6 25 UPK3A:single_exon:E2 1.000000 156 UPK3A:exon_block:E1-E2 1.000000 273 UPK3A:boundary_CDS_coverage:after_E1 1.000000 809 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UQCC2 ENST00000607484.6 2 1 1 0 1 4 13 UQCC2:single_exon:E3 0.500000 70 UQCC2:exon_block:E1-E3 1.000000 297 UQCC2:boundary_CDS_coverage:after_E2 0.500000 165 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UQCC3 ENST00000377953.4 1 1 0 0 0 2 4 UQCC3:single_exon:E1 1.000000 193 UQCC3:exon_block:E1-E2 1.000000 1927 UQCC3:boundary_CDS_coverage:after_E1 0.000000 159 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UQCRB ENST00000287022.10 4 4 0 0 0 4 13 UQCRB:single_exon:E4 0.500000 8186 UQCRB:exon_block:E1-E4 1.000000 8459 UQCRB:boundary_CDS_coverage:after_E1 0.750000 314 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UQCRC1 ENST00000203407.6 4 4 1 0 0 13 67 UQCRC1:single_exon:E8 0.750000 144 UQCRC1:exon_block:E4-E8 1.000000 669 UQCRC1:boundary_CDS_coverage:after_E3 1.000000 1143 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UQCRC2 ENST00000268379.9 7 5 4 0 2 14 73 UQCRC2:single_exon:E11 0.285714 81 UQCRC2:exon_block:E8-E12 0.714286 512 UQCRC2:boundary_CDS_coverage:after_E3 1.000000 1092 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UQCRFS1 ENST00000304863.6 3 2 1 0 1 2 4 UQCRFS1:single_exon:E2 0.666667 2839 UQCRFS1:exon_block:E1-E2 1.000000 3086 UQCRFS1:boundary_CDS_coverage:after_E1 0.666667 608 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UQCRH ENST00000311672.10 1 0 0 0 1 4 13 UQCRH:single_exon:E2 0.000000 27 UQCRH:exon_block:E1-E2 0.000000 150 UQCRH:boundary_CDS_coverage:after_E1 1.000000 219 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UROC1 ENST00000290868.7 5 4 0 0 1 20 109 UROC1:single_exon:E15 0.200000 71 UROC1:exon_block:E14-E15 0.400000 193 UROC1:boundary_CDS_coverage:after_E1 1.000000 1902 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UROD ENST00000246337.9 58 49 16 0 9 10 49 UROD:single_exon:E6 0.155172 162 UROD:exon_block:E5-E9 0.586207 666 UROD:boundary_CDS_coverage:after_E1 0.948276 1081 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UROS ENST00000368797.10 30 21 12 1 8 10 49 UROS:single_exon:E4 0.200000 97 UROS:exon_block:E2-E6 0.433333 420 UROS:boundary_CDS_coverage:after_E1 0.966667 795 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USB1 ENST00000219281.8 28 22 9 0 6 7 31 USB1:single_exon:E3 0.250000 184 USB1:exon_block:E2-E6 0.928571 595 USB1:boundary_CDS_coverage:after_E1 0.928571 697 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USH1C ENST00000005226.12 199 113 102 0 86 27 151 USH1C:single_exon:E12 0.085427 143 USH1C:exon_block:E1-E5 0.296482 605 USH1C:boundary_CDS_coverage:after_E1 0.979899 2661 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USH1G ENST00000614341.5 61 58 3 0 3 3 8 USH1G:single_exon:E2 0.836066 1218 USH1G:exon_block:E1-E2 0.983607 1564 USH1G:boundary_CDS_coverage:after_E1 0.868852 1219 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USH2A ENST00000307340.8 2100 1778 485 0 322 72 421 USH2A:single_exon:E63 0.101905 1517 USH2A:exon_block:E61-E65 0.175238 2632 USH2A:boundary_CDS_coverage:after_E1 1.000000 15606 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP11 ENST00000377107.7 2 2 0 0 0 21 115 USP11:single_exon:E11 0.500000 84 USP11:exon_block:E11-E12 0.500000 179 USP11:boundary_CDS_coverage:after_E4 1.000000 2225 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP14 ENST00000261601.8 1 1 0 0 0 16 85 USP14:single_exon:E4 1.000000 105 USP14:exon_block:E3-E4 1.000000 138 USP14:boundary_CDS_coverage:after_E3 1.000000 1287 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP18 ENST00000215794.8 4 2 2 0 2 11 55 USP18:single_exon:E8 0.500000 168 USP18:exon_block:E7-E10 1.000000 446 USP18:boundary_CDS_coverage:after_E6 1.000000 489 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP19 ENST00000417901.6 2 2 0 0 0 27 151 USP19:single_exon:E11 1.000000 221 USP19:exon_block:E10-E11 1.000000 337 USP19:boundary_CDS_coverage:after_E10 1.000000 2681 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP21 ENST00000368002.8 1 0 0 0 0 14 73 USP21:single_exon:E4 0.000000 60 USP21:exon_block:E10-E11 0.000000 166 USP21:boundary_CDS_coverage:after_E13 1.000000 88 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP24 ENST00000294383.7 1 0 1 0 1 68 397 USP24:single_exon:E64 1.000000 79 USP24:exon_block:E63-E64 1.000000 146 USP24:boundary_CDS_coverage:after_E63 1.000000 413 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP26 ENST00000511190.6 3 3 0 0 0 6 25 USP26:single_exon:E6 1.000000 5129 USP26:exon_block:E5-E6 1.000000 5194 USP26:boundary_CDS_coverage:after_E1 1.000000 2739 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP27X ENST00000621775.2 9 9 0 0 0 1 1 USP27X:single_exon:E1 1.000000 3075 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP34 ENST00000398571.7 1 0 0 0 1 80 469 USP34:single_exon:E13 0.000000 36 USP34:exon_block:E56-E57 0.000000 114 USP34:boundary_CDS_coverage:after_E69 1.000000 1798 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP45 ENST00000500704.7 6 6 2 0 0 18 97 USP45:single_exon:E10 0.166667 82 USP45:exon_block:E8-E10 0.500000 301 USP45:boundary_CDS_coverage:after_E2 1.000000 2342 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP48 ENST00000308271.14 2 2 1 0 0 27 151 USP48:single_exon:E18 0.500000 62 USP48:exon_block:E18-E19 0.500000 173 USP48:boundary_CDS_coverage:after_E9 1.000000 1934 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP50 ENST00000532404.6 1 0 0 0 0 7 31 USP50:single_exon:E6 0.000000 133 USP50:exon_block:E5-E6 0.000000 276 USP50:boundary_CDS_coverage:after_E6 1.000000 66 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP51 ENST00000500968.4 1 1 0 0 0 3 8 USP51:single_exon:E3 1.000000 4373 USP51:exon_block:E2-E3 1.000000 4570 USP51:boundary_CDS_coverage:after_E1 1.000000 2133 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP53 ENST00000692078.1 40 34 14 0 6 19 103 USP53:single_exon:E6 0.150000 93 USP53:exon_block:E12-E16 0.450000 1352 USP53:boundary_CDS_coverage:after_E1 1.000000 3219 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP7 ENST00000344836.9 50 42 15 0 8 31 175 USP7:single_exon:E16 0.100000 135 USP7:exon_block:E5-E9 0.280000 465 USP7:boundary_CDS_coverage:after_E2 0.960000 3122 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP8 ENST00000307179.9 5 5 0 0 0 20 109 USP8:single_exon:E14 0.800000 263 USP8:exon_block:E14-E18 1.000000 1067 USP8:boundary_CDS_coverage:after_E13 1.000000 1383 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP9X ENST00000378308.7 128 118 27 0 10 45 259 USP9X:single_exon:E35 0.109375 754 USP9X:exon_block:E33-E37 0.242188 1420 USP9X:boundary_CDS_coverage:after_E1 1.000000 7662 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true USP9Y ENST00000338981.7 1 1 1 0 0 46 265 USP9Y:single_exon:E8 1.000000 116 USP9Y:exon_block:E7-E8 1.000000 335 USP9Y:boundary_CDS_coverage:after_E7 1.000000 7008 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UTP14C ENST00000521776.2 7 0 0 7 0 2 4 UTP14C:single_exon:E2 0.571429 5282 UTP14C:exon_block:E1-E2 1.000000 5529 UTP14C:boundary_CDS_coverage:after_E1 0.571429 2298 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UTRN ENST00000367545.8 1 0 1 0 1 75 439 UTRN:single_exon:E30 1.000000 162 UTRN:exon_block:E30-E31 1.000000 291 UTRN:boundary_CDS_coverage:after_E30 1.000000 6165 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true UVSSA ENST00000389851.10 8 6 4 0 2 14 73 UVSSA:single_exon:E2 0.375000 100 UVSSA:exon_block:E2-E4 0.750000 552 UVSSA:boundary_CDS_coverage:after_E1 1.000000 2127 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VAC14 ENST00000261776.10 15 11 5 0 4 19 103 VAC14:single_exon:E8 0.133333 135 VAC14:exon_block:E5-E9 0.400000 610 VAC14:boundary_CDS_coverage:after_E1 0.933333 2242 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VAMP1 ENST00000396308.4 13 6 6 0 7 5 19 VAMP1:single_exon:E2 0.538462 127 VAMP1:exon_block:E2-E4 0.923077 338 VAMP1:boundary_CDS_coverage:after_E1 1.000000 352 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VAMP2 ENST00000316509.11 14 14 3 0 0 5 19 VAMP2:single_exon:E3 0.785714 159 VAMP2:exon_block:E1-E5 1.000000 2126 VAMP2:boundary_CDS_coverage:after_E1 0.928571 346 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VANGL1 ENST00000355485.7 2 2 1 0 0 8 37 VANGL1:single_exon:E5 1.000000 134 VANGL1:exon_block:E5-E6 1.000000 267 VANGL1:boundary_CDS_coverage:after_E4 1.000000 760 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VAPA ENST00000400000.7 1 1 0 0 0 6 25 VAPA:single_exon:E1 1.000000 320 VAPA:exon_block:E1-E2 1.000000 473 VAPA:boundary_CDS_coverage:after_E5 0.000000 156 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VAPB ENST00000475243.6 2 2 0 0 0 6 25 VAPB:single_exon:E2 1.000000 153 VAPB:exon_block:E2-E3 1.000000 257 VAPB:boundary_CDS_coverage:after_E1 1.000000 671 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VARS1 ENST00000375663.8 36 31 6 0 5 30 169 VARS1:single_exon:E27 0.166667 207 VARS1:exon_block:E25-E29 0.444444 929 VARS1:boundary_CDS_coverage:after_E1 1.000000 3792 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VARS2 ENST00000676266.1 47 33 22 0 13 30 169 VARS2:single_exon:E27 0.106383 112 VARS2:exon_block:E16-E20 0.297872 453 VARS2:boundary_CDS_coverage:after_E2 1.000000 2988 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VAX1 ENST00000369206.6 2 2 0 0 0 3 8 VAX1:single_exon:E1 0.500000 455 VAX1:exon_block:E1-E3 1.000000 1937 VAX1:boundary_CDS_coverage:after_E2 0.500000 573 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VCAN ENST00000265077.8 25 11 16 0 14 15 79 VCAN:single_exon:E8 0.800000 5262 VCAN:exon_block:E6-E8 0.920000 8517 VCAN:boundary_CDS_coverage:after_E5 1.000000 9440 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VCL ENST00000211998.10 4 2 3 0 2 22 121 VCL:single_exon:E2 0.250000 71 VCL:exon_block:E11-E12 0.500000 391 VCL:boundary_CDS_coverage:after_E1 1.000000 3234 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VCP ENST00000358901.11 50 49 8 0 1 17 91 VCP:single_exon:E5 0.340000 131 VCP:exon_block:E3-E7 0.800000 682 VCP:boundary_CDS_coverage:after_E2 1.000000 2289 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VDR ENST00000549336.6 40 32 12 2 5 10 49 VDR:single_exon:E10 0.225000 3469 VDR:exon_block:E6-E10 0.550000 4031 VDR:boundary_CDS_coverage:after_E1 0.975000 1281 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VEGFA ENST00000672860.3 2 2 0 0 0 8 37 VEGFA:single_exon:E1 1.000000 1102 VEGFA:exon_block:E1-E2 1.000000 1154 VEGFA:boundary_CDS_coverage:after_E7 0.000000 19 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VEGFC ENST00000618562.2 3 2 1 0 1 7 31 VEGFC:single_exon:E4 0.666667 152 VEGFC:exon_block:E3-E4 1.000000 343 VEGFC:boundary_CDS_coverage:after_E2 1.000000 896 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VEZF1 ENST00000581208.2 1 1 0 0 0 6 25 VEZF1:single_exon:E2 1.000000 695 VEZF1:exon_block:E2-E3 1.000000 759 VEZF1:boundary_CDS_coverage:after_E1 1.000000 1530 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VHL ENST00000256474.3 432 363 77 6 48 3 8 VHL:single_exon:E1 0.384259 410 VHL:exon_block:E1-E3 0.909722 4414 VHL:boundary_CDS_coverage:after_E1 0.601852 299 cancer_or_tumor_predisposition_high_burden_control tumor_predisposition_control control_or_caution_panel high ClinVar burden retained as control/caution, not replacement suitability pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VIM ENST00000544301.7 3 3 0 0 0 10 49 VIM:single_exon:E2 0.666667 710 VIM:exon_block:E2-E3 0.666667 771 VIM:boundary_CDS_coverage:after_E1 1.000000 1398 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VIPAS39 ENST00000557658.6 31 23 12 0 8 20 109 VIPAS39:single_exon:E10 0.161290 103 VIPAS39:exon_block:E9-E13 0.387097 315 VIPAS39:boundary_CDS_coverage:after_E1 1.000000 1479 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VKORC1 ENST00000394975.3 5 5 2 0 0 3 8 VKORC1:single_exon:E1 0.600000 241 VKORC1:exon_block:E1-E3 1.000000 840 VKORC1:boundary_CDS_coverage:after_E1 0.400000 316 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VLDLR ENST00000382100.8 61 44 25 0 17 19 103 VLDLR:single_exon:E15 0.098361 147 VLDLR:exon_block:E2-E6 0.377049 861 VLDLR:boundary_CDS_coverage:after_E1 0.983607 2537 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VMA12 ENST00000292114.8 7 5 3 0 2 6 25 VMA12:single_exon:E1 0.857143 235 VMA12:exon_block:E1-E4 1.000000 442 VMA12:boundary_CDS_coverage:after_E1 0.285714 413 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VMA21 ENST00000330374.7 8 1 3 1 6 3 8 VMA21:single_exon:E3 0.500000 4449 VMA21:exon_block:E2-E3 0.625000 4559 VMA21:boundary_CDS_coverage:after_E1 1.000000 250 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VMA22 ENST00000259229.7 5 4 1 0 1 5 19 VMA22:single_exon:E3 0.600000 83 VMA22:exon_block:E1-E3 1.000000 337 VMA22:boundary_CDS_coverage:after_E2 0.600000 325 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS11 ENST00000621676.5 3 3 0 0 0 16 85 VPS11:single_exon:E7 0.333333 152 VPS11:exon_block:E7-E8 0.333333 339 VPS11:boundary_CDS_coverage:after_E6 0.666667 1737 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS13A ENST00000360280.8 494 367 185 0 127 72 421 VPS13A:single_exon:E48 0.050607 396 VPS13A:exon_block:E47-E51 0.121457 1060 VPS13A:boundary_CDS_coverage:after_E1 0.983806 9422 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS13B ENST00000357162.7 996 799 257 0 197 62 361 VPS13B:single_exon:E34 0.051205 688 VPS13B:exon_block:E34-E38 0.138554 1645 VPS13B:boundary_CDS_coverage:after_E1 1.000000 11991 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS13C ENST00000644861.2 88 71 39 0 17 85 499 VPS13C:single_exon:E11 0.056818 81 VPS13C:exon_block:E65-E69 0.159091 780 VPS13C:boundary_CDS_coverage:after_E1 1.000000 11159 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS13D ENST00000620676.6 76 64 19 0 12 70 409 VPS13D:single_exon:E19 0.131579 2214 VPS13D:exon_block:E19-E22 0.236842 3489 VPS13D:boundary_CDS_coverage:after_E3 1.000000 12989 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS16 ENST00000380445.8 21 16 7 0 5 24 133 VPS16:single_exon:E14 0.095238 36 VPS16:exon_block:E11-E15 0.333333 482 VPS16:boundary_CDS_coverage:after_E2 1.000000 2375 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS25 ENST00000253794.7 1 1 0 0 0 6 25 VPS25:single_exon:E6 1.000000 643 VPS25:exon_block:E5-E6 1.000000 719 VPS25:boundary_CDS_coverage:after_E5 1.000000 110 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS26C ENST00000309117.11 1 1 0 0 0 8 37 VPS26C:single_exon:E2 1.000000 144 VPS26C:exon_block:E1-E2 1.000000 241 VPS26C:boundary_CDS_coverage:after_E1 1.000000 834 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS33A ENST00000267199.9 1 1 0 0 0 13 67 VPS33A:single_exon:E12 1.000000 169 VPS33A:exon_block:E11-E12 1.000000 307 VPS33A:boundary_CDS_coverage:after_E11 1.000000 348 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS33B ENST00000333371.8 61 38 30 0 23 23 127 VPS33B:single_exon:E20 0.098361 102 VPS33B:exon_block:E17-E21 0.327869 432 VPS33B:boundary_CDS_coverage:after_E1 0.934426 1755 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS35 ENST00000299138.12 3 3 0 0 0 17 91 VPS35:single_exon:E16 0.333333 144 VPS35:exon_block:E12-E16 1.000000 843 VPS35:boundary_CDS_coverage:after_E11 1.000000 1020 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS35L ENST00000417362.7 7 6 4 0 1 31 175 VPS35L:single_exon:E10 0.285714 97 VPS35L:exon_block:E10-E12 0.428571 239 VPS35L:boundary_CDS_coverage:after_E9 1.000000 2105 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS37A ENST00000324849.9 1 1 0 0 0 12 60 VPS37A:single_exon:E11 1.000000 81 VPS37A:exon_block:E10-E11 1.000000 225 VPS37A:boundary_CDS_coverage:after_E10 1.000000 78 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS41 ENST00000310301.9 9 6 5 0 3 29 163 VPS41:single_exon:E7 0.222222 66 VPS41:exon_block:E22-E24 0.333333 334 VPS41:boundary_CDS_coverage:after_E6 1.000000 2178 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS45 ENST00000644510.2 16 16 2 0 0 15 79 VPS45:single_exon:E8 0.187500 135 VPS45:exon_block:E8-E12 0.500000 684 VPS45:boundary_CDS_coverage:after_E1 0.937500 1617 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS4A ENST00000254950.13 6 6 4 0 0 11 55 VPS4A:single_exon:E8 0.333333 82 VPS4A:exon_block:E5-E8 0.833333 508 VPS4A:boundary_CDS_coverage:after_E1 1.000000 1290 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS50 ENST00000305866.10 7 4 3 0 3 28 157 VPS50:single_exon:E19 0.428571 119 VPS50:exon_block:E19-E22 0.714286 429 VPS50:boundary_CDS_coverage:after_E18 1.000000 1263 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS51 ENST00000279281.8 3 3 0 0 0 10 49 VPS51:single_exon:E6 0.333333 216 VPS51:exon_block:E5-E6 0.666667 934 VPS51:boundary_CDS_coverage:after_E4 1.000000 1621 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VPS53 ENST00000437048.7 16 11 8 0 5 22 121 VPS53:single_exon:E2 0.187500 81 VPS53:exon_block:E2-E5 0.312500 285 VPS53:boundary_CDS_coverage:after_E1 1.000000 2409 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VRK1 ENST00000216639.8 92 73 36 0 19 13 67 VRK1:single_exon:E12 0.184783 91 VRK1:exon_block:E8-E12 0.467391 583 VRK1:boundary_CDS_coverage:after_E1 1.000000 1188 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VSX2 ENST00000261980.3 52 45 9 1 6 5 19 VSX2:single_exon:E1 0.461538 483 VSX2:exon_block:E1-E5 1.000000 3018 VSX2:boundary_CDS_coverage:after_E1 0.538462 713 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VTA1 ENST00000367630.9 1 1 0 0 0 8 37 VTA1:single_exon:E1 1.000000 137 VTA1:exon_block:E1-E2 1.000000 232 VTA1:boundary_CDS_coverage:after_E7 0.000000 143 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VWA1 ENST00000476993.2 17 16 1 0 1 3 8 VWA1:single_exon:E2 0.411765 558 VWA1:exon_block:E1-E3 1.000000 4492 VWA1:boundary_CDS_coverage:after_E1 0.823529 1262 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VWA2 ENST00000392982.8 1 1 0 0 0 14 73 VWA2:single_exon:E11 1.000000 573 VWA2:exon_block:E10-E11 1.000000 681 VWA2:boundary_CDS_coverage:after_E10 1.000000 1268 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VWA3B ENST00000477737.6 2 2 0 0 0 28 157 VWA3B:single_exon:E14 0.500000 183 VWA3B:exon_block:E13-E14 0.500000 282 VWA3B:boundary_CDS_coverage:after_E8 1.000000 2768 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VWA5B2 ENST00000691901.1 1 0 0 0 0 20 109 VWA5B2:single_exon:E18 0.000000 84 VWA5B2:exon_block:E17-E18 0.000000 222 VWA5B2:boundary_CDS_coverage:after_E19 1.000000 546 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VWA8 ENST00000379310.8 3 2 1 0 1 45 259 VWA8:single_exon:E31 0.333333 65 VWA8:exon_block:E37-E38 0.666667 311 VWA8:boundary_CDS_coverage:after_E30 1.000000 2040 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VWCE ENST00000335613.10 1 1 0 0 0 20 109 VWCE:single_exon:E13 1.000000 118 VWCE:exon_block:E12-E13 1.000000 204 VWCE:boundary_CDS_coverage:after_E12 1.000000 1284 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VWDE ENST00000275358.8 1 0 0 0 1 29 163 VWDE:single_exon:E4 0.000000 66 VWDE:exon_block:E20-E21 0.000000 192 VWDE:boundary_CDS_coverage:after_E28 1.000000 12 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true VWF ENST00000261405.10 454 396 104 0 58 52 301 VWF:single_exon:E28 0.290749 1379 VWF:exon_block:E24-E28 0.378855 1945 VWF:boundary_CDS_coverage:after_E1 1.000000 8439 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WAC ENST00000354911.9 112 95 26 0 16 14 73 WAC:single_exon:E3 0.116071 196 WAC:exon_block:E3-E7 0.446429 841 WAC:boundary_CDS_coverage:after_E1 0.973214 1900 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WARS1 ENST00000392882.7 4 4 2 0 0 11 55 WARS1:single_exon:E8 0.250000 113 WARS1:exon_block:E8-E11 0.750000 1675 WARS1:boundary_CDS_coverage:after_E1 1.000000 1413 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WARS2 ENST00000235521.5 15 14 2 0 1 6 25 WARS2:single_exon:E2 0.400000 258 WARS2:exon_block:E2-E6 0.933333 2688 WARS2:boundary_CDS_coverage:after_E1 0.933333 990 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WAS ENST00000376701.5 206 171 50 2 32 12 61 WAS:single_exon:E10 0.184466 407 WAS:exon_block:E1-E5 0.475728 560 WAS:boundary_CDS_coverage:after_E1 0.898058 1374 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WASF1 ENST00000392589.6 12 12 4 0 0 11 55 WASF1:single_exon:E10 0.583333 629 WASF1:exon_block:E7-E11 0.833333 1961 WASF1:boundary_CDS_coverage:after_E4 1.000000 1544 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WASHC4 ENST00000332180.10 11 10 4 0 1 33 187 WASHC4:single_exon:E14 0.181818 127 WASHC4:exon_block:E14-E18 0.454545 588 WASHC4:boundary_CDS_coverage:after_E12 1.000000 2481 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WASHC5 ENST00000318410.12 42 32 19 0 10 29 163 WASHC5:single_exon:E15 0.119048 111 WASHC5:exon_block:E12-E16 0.285714 608 WASHC5:boundary_CDS_coverage:after_E1 1.000000 3477 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WBP11 ENST00000261167.7 22 18 5 0 4 12 61 WBP11:single_exon:E5 0.227273 197 WBP11:exon_block:E4-E8 0.818182 817 WBP11:boundary_CDS_coverage:after_E2 1.000000 1859 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WBP2 ENST00000254806.8 1 1 1 0 0 8 37 WBP2:single_exon:E2 1.000000 109 WBP2:exon_block:E1-E2 1.000000 206 WBP2:boundary_CDS_coverage:after_E1 1.000000 724 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WBP4 ENST00000379487.5 5 4 1 0 1 10 49 WBP4:single_exon:E6 0.200000 47 WBP4:exon_block:E5-E8 0.800000 494 WBP4:boundary_CDS_coverage:after_E4 1.000000 866 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDFY3 ENST00000295888.9 84 77 20 0 7 68 397 WDFY3:single_exon:E58 0.059524 213 WDFY3:exon_block:E46-E50 0.142857 689 WDFY3:boundary_CDS_coverage:after_E4 1.000000 10398 large_gene_or_donor_burden_stress_case donor_burden_dominant donor_burden_stress_panel high theoretical coverage may require very large donor or complex transcript context pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDPCP ENST00000272321.12 50 32 21 0 17 18 97 WDPCP:single_exon:E10 0.200000 610 WDPCP:exon_block:E8-E12 0.520000 1249 WDPCP:boundary_CDS_coverage:after_E1 0.960000 2163 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR1 ENST00000499869.7 8 8 2 0 0 15 79 WDR1:single_exon:E5 0.250000 181 WDR1:exon_block:E4-E8 0.625000 722 WDR1:boundary_CDS_coverage:after_E1 1.000000 1802 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR11 ENST00000263461.11 16 11 6 0 5 29 163 WDR11:single_exon:E9 0.125000 104 WDR11:exon_block:E6-E10 0.375000 758 WDR11:boundary_CDS_coverage:after_E1 1.000000 3586 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR19 ENST00000399820.8 143 99 62 0 44 37 210 WDR19:single_exon:E9 0.097902 174 WDR19:exon_block:E7-E11 0.244755 612 WDR19:boundary_CDS_coverage:after_E1 1.000000 4020 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR26 ENST00000414423.9 62 54 11 0 8 14 73 WDR26:single_exon:E1 0.177419 1114 WDR26:exon_block:E7-E11 0.435484 625 WDR26:boundary_CDS_coverage:after_E1 0.822581 1561 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR35 ENST00000281405.9 75 56 23 0 19 27 151 WDR35:single_exon:E15 0.106667 110 WDR35:exon_block:E12-E16 0.293333 590 WDR35:boundary_CDS_coverage:after_E1 1.000000 3486 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR37 ENST00000263150.9 9 8 4 0 1 14 73 WDR37:single_exon:E5 0.555556 65 WDR37:exon_block:E5-E9 0.777778 395 WDR37:boundary_CDS_coverage:after_E4 1.000000 1151 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR4 ENST00000398208.3 18 13 7 0 5 11 55 WDR4:single_exon:E5 0.333333 113 WDR4:exon_block:E4-E8 0.666667 495 WDR4:boundary_CDS_coverage:after_E3 0.944444 940 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR44 ENST00000254029.8 2 1 0 0 0 20 109 WDR44:single_exon:E7 0.500000 137 WDR44:exon_block:E7-E8 0.500000 221 WDR44:boundary_CDS_coverage:after_E6 0.500000 1686 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR45 ENST00000376372.9 207 144 85 0 62 11 55 WDR45:single_exon:E8 0.164251 209 WDR45:exon_block:E7-E11 0.603865 1008 WDR45:boundary_CDS_coverage:after_E1 1.000000 1080 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR45B ENST00000392325.9 3 3 1 0 0 10 49 WDR45B:single_exon:E2 0.333333 75 WDR45B:exon_block:E7-E8 0.666667 188 WDR45B:boundary_CDS_coverage:after_E1 1.000000 965 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR47 ENST00000369962.8 2 2 0 0 0 15 79 WDR47:single_exon:E11 0.500000 170 WDR47:exon_block:E10-E11 0.500000 328 WDR47:boundary_CDS_coverage:after_E4 1.000000 2430 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR5 ENST00000358625.4 3 3 2 0 0 14 73 WDR5:single_exon:E9 0.666667 47 WDR5:exon_block:E8-E9 0.666667 103 WDR5:boundary_CDS_coverage:after_E2 1.000000 921 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR62 ENST00000401500.7 116 91 35 0 25 32 181 WDR62:single_exon:E28 0.077586 127 WDR62:exon_block:E27-E31 0.224138 1091 WDR62:boundary_CDS_coverage:after_E1 0.991379 4392 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR72 ENST00000360509.10 46 38 9 0 8 20 109 WDR72:single_exon:E15 0.282609 818 WDR72:exon_block:E13-E17 0.434783 1383 WDR72:boundary_CDS_coverage:after_E1 1.000000 3306 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR73 ENST00000434634.7 36 33 6 0 3 8 37 WDR73:single_exon:E7 0.416667 366 WDR73:exon_block:E4-E8 0.777778 5124 WDR73:boundary_CDS_coverage:after_E1 0.944444 1093 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR74 ENST00000278856.9 24 0 0 0 0 11 55 WDR74:single_exon:E8 0.000000 56 WDR74:exon_block:E7-E8 0.000000 157 WDR74:boundary_CDS_coverage:after_E10 0.000000 177 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR81 ENST00000409644.6 36 32 5 0 4 10 49 WDR81:single_exon:E1 0.666667 3923 WDR81:exon_block:E1-E4 0.750000 4413 WDR81:boundary_CDS_coverage:after_E1 0.333333 2156 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR83 ENST00000418543.8 5 0 0 1 4 11 55 WDR83:single_exon:E2 0.200000 120 WDR83:exon_block:E2-E3 0.200000 259 WDR83:boundary_CDS_coverage:after_E1 1.000000 945 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR83OS ENST00000596731.7 5 3 3 0 2 4 13 WDR83OS:single_exon:E2 0.400000 106 WDR83OS:exon_block:E1-E4 1.000000 619 WDR83OS:boundary_CDS_coverage:after_E1 1.000000 268 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR91 ENST00000354475.5 4 2 2 0 2 15 79 WDR91:single_exon:E12 0.250000 109 WDR91:exon_block:E1-E3 0.500000 535 WDR91:boundary_CDS_coverage:after_E3 0.750000 1730 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDR93 ENST00000268130.12 1 1 0 0 0 17 91 WDR93:single_exon:E2 1.000000 343 WDR93:exon_block:E1-E2 1.000000 390 WDR93:boundary_CDS_coverage:after_E1 1.000000 2058 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WDTC1 ENST00000319394.8 1 1 0 0 0 16 85 WDTC1:single_exon:E12 1.000000 174 WDTC1:exon_block:E11-E12 1.000000 283 WDTC1:boundary_CDS_coverage:after_E11 1.000000 973 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WEE2 ENST00000397541.6 8 8 2 0 0 12 61 WEE2:single_exon:E4 0.250000 173 WEE2:exon_block:E4-E8 0.625000 636 WEE2:boundary_CDS_coverage:after_E3 0.875000 1116 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WFDC2 ENST00000372676.8 1 1 0 0 0 4 12 WFDC2:single_exon:E2 1.000000 144 WFDC2:exon_block:E1-E2 1.000000 252 WFDC2:boundary_CDS_coverage:after_E1 1.000000 293 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WFS1 ENST00000226760.5 231 220 16 0 11 8 37 WFS1:single_exon:E8 0.800866 2609 WFS1:exon_block:E4-E8 0.956710 3155 WFS1:boundary_CDS_coverage:after_E1 1.000000 2670 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WHRN ENST00000362057.4 55 46 12 0 9 12 61 WHRN:single_exon:E1 0.309091 1290 WHRN:exon_block:E1-E5 0.527273 1875 WHRN:boundary_CDS_coverage:after_E1 0.709091 2103 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WIPF1 ENST00000679041.1 6 6 0 0 0 8 37 WIPF1:single_exon:E5 0.666667 771 WIPF1:exon_block:E4-E6 1.000000 1161 WIPF1:boundary_CDS_coverage:after_E3 1.000000 1328 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WIPI2 ENST00000288828.9 2 2 1 0 0 13 67 WIPI2:single_exon:E6 0.500000 98 WIPI2:exon_block:E6-E9 1.000000 370 WIPI2:boundary_CDS_coverage:after_E5 1.000000 884 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WLS ENST00000262348.9 4 4 0 0 0 12 61 WLS:single_exon:E9 0.250000 144 WLS:exon_block:E9-E12 0.750000 1358 WLS:boundary_CDS_coverage:after_E3 1.000000 1119 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNK1 ENST00000315939.11 71 15 8 0 56 28 157 WNK1:single_exon:E19 0.084507 1436 WNK1:exon_block:E7-E11 0.126761 1212 WNK1:boundary_CDS_coverage:after_E5 1.000000 5746 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNK2 ENST00000427277.7 1 1 0 0 0 30 169 WNK2:single_exon:E20 1.000000 833 WNK2:exon_block:E20-E21 1.000000 903 WNK2:boundary_CDS_coverage:after_E19 1.000000 2618 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNK3 ENST00000354646.7 10 8 3 0 2 24 133 WNK3:single_exon:E3 0.200000 173 WNK3:exon_block:E3-E7 0.700000 861 WNK3:boundary_CDS_coverage:after_E2 1.000000 4863 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNK4 ENST00000246914.10 6 6 0 0 0 19 102 WNK4:single_exon:E7 0.666667 265 WNK4:exon_block:E7-E8 0.666667 387 WNK4:boundary_CDS_coverage:after_E6 0.833333 2253 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT1 ENST00000293549.4 45 41 7 0 4 4 13 WNT1:single_exon:E4 0.400000 1469 WNT1:exon_block:E1-E4 1.000000 2422 WNT1:boundary_CDS_coverage:after_E1 0.911111 1006 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT10A ENST00000258411.8 116 110 12 1 5 4 13 WNT10A:single_exon:E4 0.396552 1155 WNT10A:exon_block:E1-E4 1.000000 2055 WNT10A:boundary_CDS_coverage:after_E1 0.862069 1138 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT10B ENST00000301061.9 24 22 2 1 1 5 19 WNT10B:single_exon:E5 0.458333 1214 WNT10B:exon_block:E2-E5 1.000000 1965 WNT10B:boundary_CDS_coverage:after_E1 1.000000 1167 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT2B ENST00000369684.5 3 3 0 0 0 5 19 WNT2B:single_exon:E2 0.666667 221 WNT2B:exon_block:E2-E4 1.000000 764 WNT2B:boundary_CDS_coverage:after_E1 1.000000 991 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT3 ENST00000225512.6 2 2 0 0 0 5 18 WNT3:single_exon:E2 1.000000 242 WNT3:exon_block:E1-E2 1.000000 417 WNT3:boundary_CDS_coverage:after_E1 1.000000 985 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT4 ENST00000290167.11 5 5 0 0 0 5 19 WNT4:single_exon:E5 0.400000 3205 WNT4:exon_block:E1-E5 1.000000 3968 WNT4:boundary_CDS_coverage:after_E1 0.800000 976 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT5A ENST00000264634.9 11 11 0 0 0 5 19 WNT5A:single_exon:E3 0.545455 251 WNT5A:exon_block:E3-E5 1.000000 5380 WNT5A:boundary_CDS_coverage:after_E2 1.000000 1000 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT7A ENST00000285018.5 9 8 2 0 1 4 13 WNT7A:single_exon:E4 0.444444 3166 WNT7A:exon_block:E1-E4 1.000000 3991 WNT7A:boundary_CDS_coverage:after_E1 1.000000 976 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT7B ENST00000339464.9 6 6 2 0 0 4 13 WNT7B:single_exon:E2 0.333333 227 WNT7B:exon_block:E2-E4 1.000000 3469 WNT7B:boundary_CDS_coverage:after_E1 1.000000 976 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WNT9B ENST00000290015.7 2 2 0 0 0 4 13 WNT9B:single_exon:E1 0.500000 133 WNT9B:exon_block:E1-E4 1.000000 4972 WNT9B:boundary_CDS_coverage:after_E3 0.500000 471 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WRAP53 ENST00000396463.7 7 6 0 0 0 11 55 WRAP53:single_exon:E7 0.285714 133 WRAP53:exon_block:E7-E10 0.714286 581 WRAP53:boundary_CDS_coverage:after_E2 0.857143 1213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WRN ENST00000298139.7 421 310 162 0 111 35 199 WRN:single_exon:E9 0.106888 430 WRN:exon_block:E5-E9 0.223278 914 WRN:boundary_CDS_coverage:after_E1 1.000000 4296 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WSB2 ENST00000315436.8 1 1 0 0 0 9 43 WSB2:single_exon:E9 1.000000 1672 WSB2:exon_block:E8-E9 1.000000 1780 WSB2:boundary_CDS_coverage:after_E8 1.000000 160 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WT1 ENST00000452863.10 153 136 37 0 17 10 49 WT1:single_exon:E1 0.254902 840 WT1:exon_block:E6-E10 0.535948 1836 WT1:boundary_CDS_coverage:after_E1 0.745098 905 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WWOX ENST00000566780.6 88 61 39 0 27 9 43 WWOX:single_exon:E2 0.147727 65 WWOX:exon_block:E4-E8 0.534091 826 WWOX:boundary_CDS_coverage:after_E1 0.909091 1135 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true WWP2 ENST00000359154.7 1 0 0 0 1 24 133 WWP2:single_exon:E11 0.000000 55 WWP2:exon_block:E11-E12 0.000000 137 WWP2:boundary_CDS_coverage:after_E16 1.000000 928 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XDH ENST00000379416.4 52 34 22 0 18 36 205 XDH:single_exon:E8 0.096154 87 XDH:exon_block:E7-E11 0.307692 543 XDH:boundary_CDS_coverage:after_E2 1.000000 3899 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XIAP ENST00000371199.8 69 60 11 1 8 7 31 XIAP:single_exon:E2 0.565217 909 XIAP:exon_block:E2-E6 0.898551 1332 XIAP:boundary_CDS_coverage:after_E1 1.000000 1491 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XIST ENST00000429829.7 1 0 0 0 0 6 20 XIST:single_exon:E2 0.000000 64 XIST:exon_block:E2-E3 0.000000 201 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XK ENST00000378616.5 14 12 2 0 2 3 8 XK:single_exon:E3 0.785714 4495 XK:exon_block:E2-E3 1.000000 4758 XK:boundary_CDS_coverage:after_E1 1.000000 1087 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XKR7 ENST00000562532.3 1 1 0 0 0 3 8 XKR7:single_exon:E3 1.000000 6883 XKR7:exon_block:E2-E3 1.000000 7086 XKR7:boundary_CDS_coverage:after_E2 1.000000 950 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XPA ENST00000375128.5 111 94 33 0 17 6 25 XPA:single_exon:E4 0.270270 166 XPA:exon_block:E1-E5 0.873874 721 XPA:boundary_CDS_coverage:after_E1 0.873874 647 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XPC ENST00000285021.12 219 166 68 0 53 16 85 XPC:single_exon:E9 0.264840 882 XPC:exon_block:E9-E13 0.511416 1430 XPC:boundary_CDS_coverage:after_E1 0.958904 2717 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XPNPEP3 ENST00000357137.9 19 15 5 0 4 10 49 XPNPEP3:single_exon:E4 0.210526 203 XPNPEP3:exon_block:E3-E7 0.736842 874 XPNPEP3:boundary_CDS_coverage:after_E1 1.000000 1457 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XPO1 ENST00000401558.7 16 13 3 0 3 25 139 XPO1:single_exon:E13 0.187500 139 XPO1:exon_block:E15-E19 0.437500 747 XPO1:boundary_CDS_coverage:after_E4 1.000000 2912 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XPR1 ENST00000367590.9 7 6 1 0 1 15 79 XPR1:single_exon:E4 0.428571 224 XPR1:exon_block:E4-E8 0.714286 731 XPR1:boundary_CDS_coverage:after_E3 1.000000 1865 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XRCC1 ENST00000262887.10 3 3 1 0 0 17 91 XRCC1:single_exon:E11 0.333333 94 XRCC1:exon_block:E9-E12 1.000000 603 XRCC1:boundary_CDS_coverage:after_E8 1.000000 1076 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XRCC2 ENST00000359321.2 16 15 1 0 1 3 8 XRCC2:single_exon:E3 0.875000 4588 XRCC2:exon_block:E1-E3 1.000000 4771 XRCC2:boundary_CDS_coverage:after_E2 0.875000 719 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XRCC4 ENST00000396027.9 22 19 6 0 3 8 37 XRCC4:single_exon:E2 0.318182 149 XRCC4:exon_block:E2-E6 0.863636 755 XRCC4:boundary_CDS_coverage:after_E1 1.000000 1002 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XYLT1 ENST00000261381.7 23 20 5 0 3 12 61 XYLT1:single_exon:E1 0.217391 527 XYLT1:exon_block:E6-E10 0.478261 934 XYLT1:boundary_CDS_coverage:after_E2 0.782609 2475 diffuse_or_moderate_replacement_opportunity diffuse_or_moderate diffuse_panel no compact high-coverage architecture dominates pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true XYLT2 ENST00000017003.7 15 15 0 0 0 11 55 XYLT2:single_exon:E8 0.400000 263 XYLT2:exon_block:E7-E11 0.733333 2187 XYLT2:boundary_CDS_coverage:after_E1 1.000000 2460 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YAP1 ENST00000282441.10 5 5 0 0 0 9 43 YAP1:single_exon:E2 0.400000 251 YAP1:exon_block:E1-E2 0.600000 974 YAP1:boundary_CDS_coverage:after_E1 0.800000 1191 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YARS1 ENST00000373477.9 15 15 2 0 0 13 67 YARS1:single_exon:E4 0.266667 130 YARS1:exon_block:E3-E7 0.666667 616 YARS1:boundary_CDS_coverage:after_E1 0.933333 1527 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YARS2 ENST00000324868.13 37 37 2 0 0 5 19 YARS2:single_exon:E1 0.729730 802 YARS2:exon_block:E1-E5 1.000000 2117 YARS2:boundary_CDS_coverage:after_E1 0.270270 652 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YIF1B ENST00000339413.11 9 5 4 0 4 8 37 YIF1B:single_exon:E2 0.333333 239 YIF1B:exon_block:E2-E6 0.888889 637 YIF1B:boundary_CDS_coverage:after_E1 1.000000 884 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YIPF5 ENST00000274496.10 5 5 2 0 0 6 25 YIPF5:single_exon:E4 0.600000 146 YIPF5:exon_block:E4-E6 1.000000 2726 YIPF5:boundary_CDS_coverage:after_E3 1.000000 488 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YME1L1 ENST00000376016.8 2 2 1 0 0 19 103 YME1L1:single_exon:E18 0.500000 87 YME1L1:exon_block:E17-E18 0.500000 161 YME1L1:boundary_CDS_coverage:after_E4 1.000000 1718 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YPEL3 ENST00000398841.6 1 1 1 0 0 4 13 YPEL3:single_exon:E2 1.000000 44 YPEL3:exon_block:E2-E3 1.000000 153 YPEL3:boundary_CDS_coverage:after_E1 1.000000 240 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YRDC ENST00000373044.3 5 5 0 0 0 5 19 YRDC:single_exon:E4 0.400000 143 YRDC:exon_block:E1-E5 1.000000 1848 YRDC:boundary_CDS_coverage:after_E3 0.600000 213 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YWHAE ENST00000264335.13 1 1 0 0 0 6 25 YWHAE:single_exon:E2 1.000000 200 YWHAE:exon_block:E2-E3 1.000000 307 YWHAE:boundary_CDS_coverage:after_E1 1.000000 701 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YWHAG ENST00000307630.5 31 31 2 0 0 2 4 YWHAG:single_exon:E2 0.935484 3435 YWHAG:exon_block:E1-E2 1.000000 3705 YWHAG:boundary_CDS_coverage:after_E1 0.935484 654 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YWHAZ ENST00000395958.6 6 6 1 0 0 6 25 YWHAZ:single_exon:E4 0.333333 164 YWHAZ:exon_block:E2-E6 1.000000 4919 YWHAZ:boundary_CDS_coverage:after_E1 1.000000 735 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YY1 ENST00000262238.10 46 43 8 0 3 5 19 YY1:single_exon:E5 0.478261 5371 YY1:exon_block:E1-E5 1.000000 6534 YY1:boundary_CDS_coverage:after_E1 0.847826 563 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true YY1AP1 ENST00000355499.9 15 8 3 1 6 11 55 YY1AP1:single_exon:E11 0.266667 1460 YY1AP1:exon_block:E7-E11 0.400000 2045 YY1AP1:boundary_CDS_coverage:after_E1 1.000000 2250 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZAP70 ENST00000264972.10 39 32 11 0 7 14 73 ZAP70:single_exon:E3 0.205128 423 ZAP70:exon_block:E8-E12 0.589744 786 ZAP70:boundary_CDS_coverage:after_E1 1.000000 1857 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZAR1L ENST00000533490.7 1 0 1 1 0 6 25 ZAR1L:single_exon:E1 1.000000 49 ZAR1L:exon_block:E1-E2 1.000000 270 ZAR1L:boundary_CDS_coverage:after_E5 0.000000 141 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBED4 ENST00000216268.6 1 1 0 0 0 2 4 ZBED4:single_exon:E2 1.000000 6747 ZBED4:exon_block:E1-E2 1.000000 6893 ZBED4:boundary_CDS_coverage:after_E1 1.000000 3513 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBTB11 ENST00000312938.5 10 10 2 0 0 11 55 ZBTB11:single_exon:E11 0.400000 2795 ZBTB11:exon_block:E7-E11 0.600000 3393 ZBTB11:boundary_CDS_coverage:after_E3 0.800000 2381 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBTB18 ENST00000358704.4 74 74 0 0 0 2 4 ZBTB18:single_exon:E2 1.000000 3689 ZBTB18:exon_block:E1-E2 1.000000 3851 ZBTB18:boundary_CDS_coverage:after_E1 1.000000 1580 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBTB20 ENST00000675478.1 86 83 13 0 3 12 61 ZBTB20:single_exon:E11 0.523256 1605 ZBTB20:exon_block:E9-E12 1.000000 26884 ZBTB20:boundary_CDS_coverage:after_E9 1.000000 2212 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBTB24 ENST00000230122.4 54 46 12 0 8 7 31 ZBTB24:single_exon:E2 0.500000 980 ZBTB24:exon_block:E2-E6 0.888889 1398 ZBTB24:boundary_CDS_coverage:after_E1 1.000000 2091 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBTB25 ENST00000608382.6 7 0 0 0 0 3 8 ZBTB25:single_exon:E1 0.000000 178 ZBTB25:exon_block:E1-E2 0.000000 358 ZBTB25:boundary_CDS_coverage:after_E2 1.000000 1132 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBTB47 ENST00000232974.11 1 1 0 0 0 6 25 ZBTB47:single_exon:E2 1.000000 1554 ZBTB47:exon_block:E2-E3 1.000000 1702 ZBTB47:boundary_CDS_coverage:after_E1 1.000000 2241 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBTB7A ENST00000322357.9 23 23 0 0 0 3 8 ZBTB7A:single_exon:E2 0.782609 1277 ZBTB7A:exon_block:E2-E3 1.000000 6219 ZBTB7A:boundary_CDS_coverage:after_E1 1.000000 1752 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZBTB9 ENST00000395064.3 1 0 0 0 0 2 4 ZBTB9:single_exon:E1 0.000000 200 ZBTB9:exon_block:E1-E2 0.000000 2715 ZBTB9:boundary_CDS_coverage:after_E1 0.000000 1419 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZC4H2 ENST00000374839.8 64 54 14 0 10 5 19 ZC4H2:single_exon:E5 0.312500 2090 ZC4H2:exon_block:E1-E5 0.984375 2724 ZC4H2:boundary_CDS_coverage:after_E1 0.968750 619 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZCCHC8 ENST00000633063.3 4 4 1 0 0 14 73 ZCCHC8:single_exon:E6 0.750000 104 ZCCHC8:exon_block:E4-E6 1.000000 288 ZCCHC8:boundary_CDS_coverage:after_E3 1.000000 1804 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZDHHC15 ENST00000373367.8 1 1 1 0 0 12 60 ZDHHC15:single_exon:E6 1.000000 33 ZDHHC15:exon_block:E5-E6 1.000000 103 ZDHHC15:boundary_CDS_coverage:after_E5 1.000000 562 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZDHHC16 ENST00000393760.6 2 1 1 0 1 12 61 ZDHHC16:single_exon:E6 0.500000 29 ZDHHC16:exon_block:E5-E6 0.500000 118 ZDHHC16:boundary_CDS_coverage:after_E6 1.000000 575 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZDHHC24 ENST00000310442.5 138 0 0 0 0 3 8 ZDHHC24:single_exon:E2 0.000000 278 ZDHHC24:exon_block:E1-E2 0.000000 604 ZDHHC24:boundary_CDS_coverage:after_E2 1.000000 293 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZDHHC9 ENST00000357166.11 21 15 9 0 6 11 55 ZDHHC9:single_exon:E4 0.285714 161 ZDHHC9:exon_block:E4-E8 0.666667 610 ZDHHC9:boundary_CDS_coverage:after_E3 1.000000 925 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZEB1 ENST00000424869.6 32 31 4 0 1 9 43 ZEB1:single_exon:E7 0.625000 1811 ZEB1:exon_block:E4-E7 0.875000 2282 ZEB1:boundary_CDS_coverage:after_E3 0.906250 3053 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZEB2 ENST00000627532.3 389 365 42 0 24 10 49 ZEB2:single_exon:E8 0.473008 1970 ZEB2:exon_block:E6-E10 0.835476 8423 ZEB2:boundary_CDS_coverage:after_E1 1.000000 3642 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFC3H1 ENST00000378743.9 2 2 0 0 0 35 199 ZFC3H1:single_exon:E2 0.500000 417 ZFC3H1:exon_block:E2-E3 0.500000 482 ZFC3H1:boundary_CDS_coverage:after_E1 1.000000 5369 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFHX2 ENST00000419474.5 1 1 0 0 0 10 49 ZFHX2:single_exon:E9 1.000000 3477 ZFHX2:exon_block:E8-E9 1.000000 3604 ZFHX2:boundary_CDS_coverage:after_E8 1.000000 4454 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFHX3 ENST00000268489.10 38 37 1 0 1 10 49 ZFHX3:single_exon:E9 0.473684 5460 ZFHX3:exon_block:E6-E10 0.657895 11862 ZFHX3:boundary_CDS_coverage:after_E1 1.000000 11109 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFHX4 ENST00000651372.2 12 10 4 0 2 11 55 ZFHX4:single_exon:E10 0.416667 5415 ZFHX4:exon_block:E6-E10 0.583333 5985 ZFHX4:boundary_CDS_coverage:after_E1 1.000000 10848 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFP30 ENST00000684514.1 1 1 0 0 0 6 25 ZFP30:single_exon:E6 1.000000 5300 ZFP30:exon_block:E5-E6 1.000000 5399 ZFP30:boundary_CDS_coverage:after_E5 1.000000 1322 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFP36L2 ENST00000282388.4 2 2 0 0 0 2 4 ZFP36L2:single_exon:E2 1.000000 3351 ZFP36L2:exon_block:E1-E2 1.000000 3693 ZFP36L2:boundary_CDS_coverage:after_E1 1.000000 1431 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFP57 ENST00000376883.2 14 14 1 0 0 5 19 ZFP57:single_exon:E5 0.785714 1276 ZFP57:exon_block:E3-E5 1.000000 1505 ZFP57:boundary_CDS_coverage:after_E2 1.000000 1485 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFPM2 ENST00000407775.7 20 18 3 0 2 8 37 ZFPM2:single_exon:E8 0.550000 3493 ZFPM2:exon_block:E4-E8 0.900000 4156 ZFPM2:boundary_CDS_coverage:after_E1 0.950000 3413 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFTRAF1 ENST00000530374.6 3 2 1 0 1 4 13 ZFTRAF1:single_exon:E4 0.666667 1189 ZFTRAF1:exon_block:E3-E4 1.000000 1401 ZFTRAF1:boundary_CDS_coverage:after_E2 1.000000 601 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFX ENST00000304543.10 11 11 0 0 0 10 49 ZFX:single_exon:E10 0.727273 6063 ZFX:exon_block:E9-E10 0.727273 6204 ZFX:boundary_CDS_coverage:after_E4 1.000000 2357 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFYVE16 ENST00000505560.5 1 1 0 0 0 19 103 ZFYVE16:single_exon:E11 1.000000 225 ZFYVE16:exon_block:E11-E12 1.000000 308 ZFYVE16:boundary_CDS_coverage:after_E10 1.000000 1235 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFYVE19 ENST00000355341.8 8 7 1 0 1 11 55 ZFYVE19:single_exon:E4 0.250000 119 ZFYVE19:exon_block:E1-E5 0.875000 1218 ZFYVE19:boundary_CDS_coverage:after_E1 0.875000 1134 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZFYVE26 ENST00000347230.9 454 322 103 0 75 42 241 ZFYVE26:single_exon:E11 0.083700 609 ZFYVE26:exon_block:E11-E15 0.154185 1116 ZFYVE26:boundary_CDS_coverage:after_E1 1.000000 7617 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZIC1 ENST00000282928.5 13 13 1 0 0 3 8 ZIC1:single_exon:E3 0.615385 3366 ZIC1:exon_block:E1-E3 1.000000 5260 ZIC1:boundary_CDS_coverage:after_E1 0.923077 359 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZIC2 ENST00000376335.8 51 49 6 0 2 3 8 ZIC2:single_exon:E1 0.549020 1356 ZIC2:exon_block:E1-E3 1.000000 2963 ZIC2:boundary_CDS_coverage:after_E1 0.450980 521 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZIC3 ENST00000287538.10 41 40 1 0 0 3 8 ZIC3:single_exon:E1 0.804878 1625 ZIC3:exon_block:E1-E2 0.975610 1789 ZIC3:boundary_CDS_coverage:after_E1 0.195122 341 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZMIZ1 ENST00000334512.10 57 49 15 0 8 25 139 ZMIZ1:single_exon:E11 0.192982 199 ZMIZ1:exon_block:E11-E15 0.473684 908 ZMIZ1:boundary_CDS_coverage:after_E1 1.000000 3201 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZMPSTE24 ENST00000372759.4 37 30 10 0 7 10 49 ZMPSTE24:single_exon:E9 0.189189 144 ZMPSTE24:exon_block:E6-E10 0.702703 2312 ZMPSTE24:boundary_CDS_coverage:after_E1 0.891892 1302 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZMYM2 ENST00000610343.5 97 84 21 0 13 25 139 ZMYM2:single_exon:E4 0.123711 286 ZMYM2:exon_block:E3-E7 0.298969 1594 ZMYM2:boundary_CDS_coverage:after_E1 1.000000 4131 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZMYM3 ENST00000314425.9 12 10 2 0 2 25 139 ZMYM3:single_exon:E7 0.250000 219 ZMYM3:exon_block:E22-E24 0.416667 488 ZMYM3:boundary_CDS_coverage:after_E4 1.000000 3332 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZMYND10 ENST00000231749.8 35 28 13 0 7 12 61 ZMYND10:single_exon:E1 0.257143 245 ZMYND10:exon_block:E5-E9 0.514286 627 ZMYND10:boundary_CDS_coverage:after_E1 0.742857 1228 compact_adjacent_exon_block_opportunity compact_exon_block primary_metric_specific_candidate_panel adjacent exon/block unit captures meaningful record burden pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZMYND11 ENST00000381604.9 86 78 20 0 8 15 79 ZMYND11:single_exon:E15 0.151163 2290 ZMYND11:exon_block:E11-E15 0.511628 3026 ZMYND11:boundary_CDS_coverage:after_E1 1.000000 1806 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZMYND15 ENST00000433935.6 8 8 0 0 0 14 73 ZMYND15:single_exon:E2 0.375000 622 ZMYND15:exon_block:E2-E6 0.625000 1327 ZMYND15:boundary_CDS_coverage:after_E1 1.000000 2226 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZMYND8 ENST00000471951.7 4 4 2 0 0 23 127 ZMYND8:single_exon:E14 0.500000 510 ZMYND8:exon_block:E13-E14 0.750000 663 ZMYND8:boundary_CDS_coverage:after_E7 1.000000 2954 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF141 ENST00000240499.8 1 1 0 0 0 4 13 ZNF141:single_exon:E4 1.000000 12205 ZNF141:exon_block:E3-E4 1.000000 12301 ZNF141:boundary_CDS_coverage:after_E3 1.000000 1196 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF142 ENST00000411696.7 43 39 5 0 4 11 55 ZNF142:single_exon:E9 0.651163 3037 ZNF142:exon_block:E6-E10 0.953488 4314 ZNF142:boundary_CDS_coverage:after_E4 1.000000 5381 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF148 ENST00000360647.9 25 24 1 0 1 9 43 ZNF148:single_exon:E9 0.880000 8271 ZNF148:exon_block:E8-E9 1.000000 8390 ZNF148:boundary_CDS_coverage:after_E7 1.000000 1715 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF276 ENST00000443381.7 121 0 0 121 0 11 55 ZNF276:single_exon:E11 1.000000 2950 ZNF276:exon_block:E10-E11 1.000000 3050 ZNF276:boundary_CDS_coverage:after_E10 1.000000 268 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF292 ENST00000369577.8 99 98 3 0 1 8 37 ZNF292:single_exon:E8 0.919192 11294 ZNF292:exon_block:E4-E8 0.979798 11912 ZNF292:boundary_CDS_coverage:after_E1 0.989899 8001 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF335 ENST00000322927.3 25 21 6 0 4 28 157 ZNF335:single_exon:E21 0.160000 143 ZNF335:exon_block:E19-E23 0.400000 889 ZNF335:boundary_CDS_coverage:after_E2 1.000000 3825 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF341 ENST00000375200.6 28 24 5 0 4 15 79 ZNF341:single_exon:E4 0.142857 150 ZNF341:exon_block:E4-E8 0.535714 883 ZNF341:boundary_CDS_coverage:after_E1 1.000000 2531 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF407 ENST00000299687.10 2 2 1 0 0 9 43 ZNF407:single_exon:E6 0.500000 84 ZNF407:exon_block:E2-E6 1.000000 5181 ZNF407:boundary_CDS_coverage:after_E1 1.000000 6744 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF408 ENST00000311764.3 13 10 3 0 3 5 19 ZNF408:single_exon:E5 0.615385 1560 ZNF408:exon_block:E2-E5 1.000000 2160 ZNF408:boundary_CDS_coverage:after_E1 1.000000 2108 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF418 ENST00000396147.6 1 1 0 0 0 6 23 ZNF418:single_exon:E4 1.000000 2425 ZNF418:exon_block:E4-E5 1.000000 2523 ZNF418:boundary_CDS_coverage:after_E3 1.000000 1895 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF423 ENST00000563137.7 4 4 1 0 0 8 37 ZNF423:single_exon:E4 0.750000 3215 ZNF423:exon_block:E4-E8 1.000000 7329 ZNF423:boundary_CDS_coverage:after_E3 1.000000 3575 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF446 ENST00000594369.6 1 1 0 0 0 7 31 ZNF446:single_exon:E7 1.000000 1055 ZNF446:exon_block:E6-E7 1.000000 1145 ZNF446:boundary_CDS_coverage:after_E6 1.000000 548 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF454 ENST00000519564.2 38 0 0 0 0 5 19 ZNF454:single_exon:E4 0.000000 90 ZNF454:exon_block:E3-E4 0.000000 217 ZNF454:boundary_CDS_coverage:after_E4 1.000000 1316 compact_boundary_CDS_coverage_opportunity downstream_CDS_compact primary_metric_specific_candidate_panel compact downstream-CDS record-coverage hypothesis; not functional rescue pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF462 ENST00000277225.10 84 80 7 0 4 13 67 ZNF462:single_exon:E3 0.797619 5627 ZNF462:exon_block:E2-E6 0.892857 6265 ZNF462:boundary_CDS_coverage:after_E2 1.000000 7298 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF469 ENST00000565624.3 197 187 0 0 0 3 8 ZNF469:single_exon:E3 0.949239 13409 ZNF469:exon_block:E2-E3 0.949239 13474 ZNF469:boundary_CDS_coverage:after_E1 0.949239 11859 high_coverage_downstream_CDS_but_donor_or_context_burden context_burden context_burden_panel high coverage depends on donor/context assumptions pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF496 ENST00000682384.1 1 1 0 0 0 10 49 ZNF496:single_exon:E10 1.000000 3862 ZNF496:exon_block:E9-E10 1.000000 3976 ZNF496:boundary_CDS_coverage:after_E9 1.000000 755 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF513 ENST00000323703.11 2 2 0 0 0 4 13 ZNF513:single_exon:E3 1.000000 588 ZNF513:exon_block:E2-E3 1.000000 744 ZNF513:boundary_CDS_coverage:after_E2 1.000000 1412 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF518A ENST00000316045.10 4 0 0 0 0 6 25 ZNF518A:single_exon:E4 0.000000 51 ZNF518A:exon_block:E3-E4 0.000000 117 ZNF518A:boundary_CDS_coverage:after_E1 1.000000 4449 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF526 ENST00000301215.8 4 4 0 0 0 3 8 ZNF526:single_exon:E3 1.000000 3815 ZNF526:exon_block:E2-E3 1.000000 3906 ZNF526:boundary_CDS_coverage:after_E1 1.000000 2010 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF564 ENST00000339282.12 1 0 0 0 1 4 13 ZNF564:single_exon:E3 0.000000 61 ZNF564:exon_block:E2-E3 0.000000 188 ZNF564:boundary_CDS_coverage:after_E1 1.000000 1656 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF644 ENST00000337393.10 3 2 0 1 0 6 25 ZNF644:single_exon:E3 0.666667 3038 ZNF644:exon_block:E3-E6 1.000000 5434 ZNF644:boundary_CDS_coverage:after_E2 1.000000 3937 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF668 ENST00000300849.5 3 3 0 0 0 3 8 ZNF668:single_exon:E3 1.000000 1434 ZNF668:exon_block:E2-E3 1.000000 2103 ZNF668:boundary_CDS_coverage:after_E2 1.000000 1210 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF687 ENST00000336715.11 1 1 0 0 0 9 43 ZNF687:single_exon:E2 1.000000 2132 ZNF687:exon_block:E1-E2 1.000000 2229 ZNF687:boundary_CDS_coverage:after_E1 1.000000 3711 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF699 ENST00000591998.6 14 14 2 0 0 6 25 ZNF699:single_exon:E6 0.500000 5794 ZNF699:exon_block:E3-E6 1.000000 6216 ZNF699:boundary_CDS_coverage:after_E2 1.000000 1878 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF711 ENST00000674551.1 16 16 2 0 0 11 55 ZNF711:single_exon:E11 0.625000 2707 ZNF711:exon_block:E9-E11 0.812500 2899 ZNF711:boundary_CDS_coverage:after_E4 1.000000 2342 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF717 ENST00000652011.2 1 1 0 0 0 5 19 ZNF717:single_exon:E3 1.000000 127 ZNF717:exon_block:E2-E3 1.000000 186 ZNF717:boundary_CDS_coverage:after_E2 1.000000 2685 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF750 ENST00000269394.4 1 1 0 0 0 3 8 ZNF750:single_exon:E2 1.000000 1618 ZNF750:exon_block:E1-E2 1.000000 1714 ZNF750:boundary_CDS_coverage:after_E1 1.000000 2169 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF766 ENST00000439461.6 1 0 0 0 1 4 13 ZNF766:single_exon:E1 0.000000 45 ZNF766:exon_block:E1-E2 0.000000 172 ZNF766:boundary_CDS_coverage:after_E3 1.000000 1130 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF808 ENST00000359798.9 8 8 0 0 0 5 19 ZNF808:single_exon:E5 1.000000 3230 ZNF808:exon_block:E4-E5 1.000000 3357 ZNF808:boundary_CDS_coverage:after_E4 1.000000 2519 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNF862 ENST00000223210.5 1 1 0 0 0 8 37 ZNF862:single_exon:E7 1.000000 2112 ZNF862:exon_block:E6-E7 1.000000 2217 ZNF862:boundary_CDS_coverage:after_E6 1.000000 2285 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNFX1 ENST00000396105.6 11 11 1 0 0 14 73 ZNFX1:single_exon:E3 0.454545 1809 ZNFX1:exon_block:E2-E3 0.454545 1918 ZNFX1:boundary_CDS_coverage:after_E2 1.000000 5693 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNHIT3 ENST00000617429.5 2 2 1 0 0 5 19 ZNHIT3:single_exon:E2 0.500000 32 ZNHIT3:exon_block:E1-E2 1.000000 137 ZNHIT3:boundary_CDS_coverage:after_E1 0.500000 379 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZNRF3 ENST00000544604.7 7 7 2 0 0 9 43 ZNRF3:single_exon:E7 0.571429 103 ZNRF3:exon_block:E4-E7 0.857143 514 ZNRF3:boundary_CDS_coverage:after_E1 1.000000 2508 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZP1 ENST00000278853.10 13 9 4 0 4 12 61 ZP1:single_exon:E7 0.307692 128 ZP1:exon_block:E3-E7 0.692308 922 ZP1:boundary_CDS_coverage:after_E2 1.000000 1596 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZP2 ENST00000574091.6 8 3 5 0 5 19 103 ZP2:single_exon:E14 0.250000 190 ZP2:exon_block:E14-E17 0.500000 507 ZP2:boundary_CDS_coverage:after_E2 1.000000 2084 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZP3 ENST00000394857.8 5 4 1 0 1 8 37 ZP3:single_exon:E5 0.400000 118 ZP3:exon_block:E1-E5 1.000000 846 ZP3:boundary_CDS_coverage:after_E1 0.800000 960 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZPBP ENST00000046087.7 1 1 0 0 0 8 37 ZPBP:single_exon:E7 1.000000 178 ZPBP:exon_block:E6-E7 1.000000 255 ZPBP:boundary_CDS_coverage:after_E6 1.000000 270 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZPR1 ENST00000227322.8 2 1 1 0 0 14 73 ZPR1:single_exon:E6 0.500000 123 ZPR1:exon_block:E6-E7 0.500000 171 ZPR1:boundary_CDS_coverage:after_E5 0.500000 795 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZRSR2 ENST00000307771.8 6 6 0 0 0 11 55 ZRSR2:single_exon:E11 0.500000 530 ZRSR2:exon_block:E10-E11 0.833333 640 ZRSR2:boundary_CDS_coverage:after_E3 1.000000 1243 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZSCAN10 ENST00000576985.6 5 5 0 0 0 6 25 ZSCAN10:single_exon:E6 0.800000 1757 ZSCAN10:exon_block:E3-E6 1.000000 2148 ZSCAN10:boundary_CDS_coverage:after_E2 1.000000 1944 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZSWIM6 ENST00000252744.6 5 5 1 0 0 14 73 ZSWIM6:single_exon:E13 0.400000 82 ZSWIM6:exon_block:E13-E14 0.800000 2800 ZSWIM6:boundary_CDS_coverage:after_E8 1.000000 1661 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZSWIM7 ENST00000399277.6 4 3 1 0 1 5 19 ZSWIM7:single_exon:E3 0.750000 103 ZSWIM7:exon_block:E3-E4 1.000000 208 ZSWIM7:boundary_CDS_coverage:after_E2 1.000000 322 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZUP1 ENST00000368576.8 1 0 0 0 0 10 49 ZUP1:single_exon:E3 0.000000 111 ZUP1:exon_block:E3-E4 0.000000 233 ZUP1:boundary_CDS_coverage:after_E9 1.000000 45 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true ZYG11B ENST00000294353.7 1 1 0 0 0 14 73 ZYG11B:single_exon:E3 1.000000 755 ZYG11B:exon_block:E3-E4 1.000000 896 ZYG11B:boundary_CDS_coverage:after_E2 1.000000 2036 low_record_burden_interpretation_limited low_record_burden computed_but_semantic_interpretation_limited ClinVar_PL_count_lt_20 pending_PAExact_constraints ClinVar_record_count_not_patient_coverage; semantic_class_not_therapeutic_suitability; no_PA_mode_recommendation_no_efficiency_no_safety true