sample_duplicates.json

// Sample ID: P-0100984-T01-IM7
{'aa_change': 'p.R112Pfs*8', 'alt_allele': 'CG', 'cDNA_change': 'c.334dupC', 'chromosome': '9', 'clinical-signed-out': '1', 'comments': None, 'confidence_class': 'AUTO_OK', 'confidence_cv_id': 3, 'cosmic_id': '', 'd_tumor_ad': None, 'd_tumor_dp': None, 'd_tumor_rd': None, 'd_tumor_vfreq': None, 'dbSNP_id': '', 'dmp_sample_mrev_id': 179229, 'dmp_sample_so_id': 178935, 'dmp_variant_id': 530685, 'exon_num': 'exon2', 'gene_id': 'CDKN2A', 'is_hotspot': 0, 'is_reported': 1, 'level': 'LEVEL_4', 'mafreq_1000g': '', 'mrev_comments': '', 'mrev_status_cv_id': 3, 'mrev_status_name': 'MANUL_REVIEW_COMPLETED', 'normal_ad': 0, 'normal_dp': 454, 'normal_vfreq': 0.0, 'occurance_in_normal': '0;0', 'occurance_in_pop': None, 'oncogenic': 'Likely Oncogenic', 'oncokb_interpretation': 'The CDKN2A gene encodes two proteins, p16INK4A and p14ARF, that regulate the cell growth and survival. CDKN2A is altered by mutation and/or deletion in a broad range of solid and hematologic cancers. The CDKN2A R112Pfs*8 is a truncating mutation in a tumor suppressor gene, and therefore is likely oncogenic. Laboratory data suggest that cancer cells with loss-of-function alterations of CDKN2A may be sensitive to CDK4/6 inhibitors such as palbociclib, ribociclib and abemaciclib. - Updated: 02/15/2023', 'oncokb_ver': 'v4.12', 'ref_allele': 'C', 'rlevel': None, 's_tumor_ad': None, 's_tumor_dp': None, 's_tumor_rd': None, 's_tumor_vfreq': None, 'snp_indel_tool_name': 'SID_VARDICT_MUTECT2', 'snp_indel_variant_id': 27713594, 'so_comments': 'Note: Low tumor content (approximately 20% or less). Negative mutation, copy number, and structural variant results, as well as low (stable) MSIsensor scores and low tumor mutation burden (TMB), should be interpreted with caution.', 'so_status_cv_id': 5, 'so_status_name': 'SIGNOUT_FINALIZED', 'start_position': 21971023, 'transcript_id': 'NM_000077', 'treatments': 'Palbociclib (4), Ribociclib (4), Abemaciclib (4)', 'tumor_ad': 19, 'tumor_dp': 311, 'tumor_vfreq': 0.06109, 'variant_class': 'frameshift_insertion', 'variant_class_cv_id': 4, 'variant_status_cv_id': 1, 'variant_status_name': 'NEW_VARIANT'}

{'aa_change': 'p.R112Pfs*8', 'alt_allele': 'CG', 'cDNA_change': 'c.334dupC', 'chromosome': '9', 'clinical-signed-out': '1', 'comments': None, 'confidence_class': 'AUTO_OK', 'confidence_cv_id': 3, 'cosmic_id': '', 'dbSNP_id': '', 'dmp_sample_mrev_id': 179229, 'dmp_sample_so_id': 178935, 'dmp_variant_id': 530685, 'exon_num': 'exon2', 'gene_id': 'CDKN2Ap16INK4A', 'is_hotspot': 0, 'level': 'LEVEL_4', 'mafreq_1000g': '', 'mrev_comments': '', 'mrev_status_cv_id': 3, 'mrev_status_name': 'MANUL_REVIEW_COMPLETED', 'normal_ad': 0, 'normal_dp': 454, 'normal_vfreq': 0.0, 'occurance_in_normal': '0;0', 'occurance_in_pop': None, 'oncogenic': 'Likely Oncogenic', 'oncokb_interpretation': 'The CDKN2A gene encodes two proteins, p16INK4A and p14ARF, that regulate the cell growth and survival. CDKN2A is altered by mutation and/or deletion in a broad range of solid and hematologic cancers. The CDKN2A R112Pfs*8 is a truncating mutation in a tumor suppressor gene, and therefore is likely oncogenic. Laboratory data suggest that cancer cells with loss-of-function alterations of CDKN2A may be sensitive to CDK4/6 inhibitors such as palbociclib, ribociclib and abemaciclib. - Updated: 02/15/2023', 'oncokb_reported': 1, 'oncokb_ver': 'v4.12', 'ref_allele': 'C', 'rlevel': None, 'snp_indel_tool_name': 'SID_VARDICT_MUTECT2', 'snp_indel_variant_id': 27713594, 'so_comments': 'Note: Low tumor content (approximately 20% or less). Negative mutation, copy number, and structural variant results, as well as low (stable) MSIsensor scores and low tumor mutation burden (TMB), should be interpreted with caution.', 'so_status_cv_id': 5, 'so_status_name': 'SIGNOUT_FINALIZED', 'start_position': 21971023, 'transcript_id': 'NM_000077', 'treatments': 'Palbociclib (4), Ribociclib (4), Abemaciclib (4)', 'tumor_ad': 19, 'tumor_dp': 311, 'tumor_vfreq': 0.06109, 'variant_class': 'frameshift_insertion', 'variant_class_cv_id': 4, 'variant_status_cv_id': 1, 'variant_status_name': 'NEW_VARIANT'}

// Sample ID: P-0100984-T01-IM7
{'aa_change': 'p.R112Pfs*8', 'alt_allele': 'CG', 'cDNA_change': 'c.334dupC', 'chromosome': '9', 'clinical-signed-out': '1', 'comments': None, 'confidence_class': 'AUTO_OK', 'confidence_cv_id': 3, 'cosmic_id': '', 'd_tumor_ad': None, 'd_tumor_dp': None, 'd_tumor_rd': None, 'd_tumor_vfreq': None, 'dbSNP_id': '', 'dmp_sample_mrev_id': 179229, 'dmp_sample_so_id': 178935, 'dmp_variant_id': 530685, 'exon_num': 'exon2', 'gene_id': 'CDKN2A', 'is_hotspot': 0, 'is_reported': 1, 'level': 'LEVEL_4', 'mafreq_1000g': '', 'mrev_comments': '', 'mrev_status_cv_id': 3, 'mrev_status_name': 'MANUL_REVIEW_COMPLETED', 'normal_ad': 0, 'normal_dp': 454, 'normal_vfreq': 0.0, 'occurance_in_normal': '0;0', 'occurance_in_pop': None, 'oncogenic': 'Likely Oncogenic', 'oncokb_interpretation': 'The CDKN2A gene encodes two proteins, p16INK4A and p14ARF, that regulate the cell growth and survival. CDKN2A is altered by mutation and/or deletion in a broad range of solid and hematologic cancers. The CDKN2A R112Pfs*8 is a truncating mutation in a tumor suppressor gene, and therefore is likely oncogenic. Laboratory data suggest that cancer cells with loss-of-function alterations of CDKN2A may be sensitive to CDK4/6 inhibitors such as palbociclib, ribociclib and abemaciclib. - Updated: 02/15/2023', 'oncokb_ver': 'v4.12', 'ref_allele': 'C', 'rlevel': None, 's_tumor_ad': None, 's_tumor_dp': None, 's_tumor_rd': None, 's_tumor_vfreq': None, 'snp_indel_tool_name': 'SID_VARDICT_MUTECT2', 'snp_indel_variant_id': 27713594, 'so_comments': 'Note: Low tumor content (approximately 20% or less). Negative mutation, copy number, and structural variant results, as well as low (stable) MSIsensor scores and low tumor mutation burden (TMB), should be interpreted with caution.', 'so_status_cv_id': 5, 'so_status_name': 'SIGNOUT_FINALIZED', 'start_position': 21971023, 'transcript_id': 'NM_000077', 'treatments': 'Palbociclib (4), Ribociclib (4), Abemaciclib (4)', 'tumor_ad': 19, 'tumor_dp': 311, 'tumor_vfreq': 0.06109, 'variant_class': 'frameshift_insertion', 'variant_class_cv_id': 4, 'variant_status_cv_id': 1, 'variant_status_name': 'NEW_VARIANT'}

{'aa_change': 'p.S127Vfs*34', 'alt_allele': 'CG', 'cDNA_change': 'c.377dupC', 'chromosome': '9', 'clinical-signed-out': '1', 'comments': None, 'confidence_class': 'AUTO_OK', 'confidence_cv_id': 3, 'cosmic_id': '', 'dbSNP_id': '', 'dmp_sample_mrev_id': 179229, 'dmp_sample_so_id': 178935, 'dmp_variant_id': 530686, 'exon_num': 'exon2', 'gene_id': 'CDKN2Ap14ARF', 'is_hotspot': 0, 'level': 'LEVEL_4', 'mafreq_1000g': '', 'mrev_comments': '', 'mrev_status_cv_id': 3, 'mrev_status_name': 'MANUL_REVIEW_COMPLETED', 'normal_ad': 0, 'normal_dp': 454, 'normal_vfreq': 0.0, 'occurance_in_normal': '0;0', 'occurance_in_pop': None, 'oncogenic': 'Likely Oncogenic', 'oncokb_interpretation': 'The CDKN2A gene encodes two proteins, p16INK4A and p14ARF, that regulate the cell growth and survival. CDKN2A is altered by mutation and/or deletion in a broad range of solid and hematologic cancers. The CDKN2A S127Vfs*34 is a truncating mutation in a tumor suppressor gene, and therefore is likely oncogenic. Laboratory data suggest that cancer cells with loss-of-function alterations of CDKN2A may be sensitive to CDK4/6 inhibitors such as palbociclib, ribociclib and abemaciclib. - Updated: 02/15/2023', 'oncokb_reported': 1, 'oncokb_ver': 'v4.12', 'ref_allele': 'C', 'rlevel': None, 'snp_indel_tool_name': 'SID_VARDICT_MUTECT2', 'snp_indel_variant_id': 27713595, 'so_comments': 'Note: Low tumor content (approximately 20% or less). Negative mutation, copy number, and structural variant results, as well as low (stable) MSIsensor scores and low tumor mutation burden (TMB), should be interpreted with caution.', 'so_status_cv_id': 5, 'so_status_name': 'SIGNOUT_FINALIZED', 'start_position': 21971023, 'transcript_id': 'NM_058195', 'treatments': 'Palbociclib (4), Ribociclib (4), Abemaciclib (4)', 'tumor_ad': 19, 'tumor_dp': 311, 'tumor_vfreq': 0.06109, 'variant_class': 'frameshift_insertion', 'variant_class_cv_id': 4, 'variant_status_cv_id': 1, 'variant_status_name': 'NEW_VARIANT'}

// Sample ID: P-0100882-T01-IM7
{'aa_change': 'p.P114L', 'alt_allele': 'AA', 'cDNA_change': 'c.341_342delinsTT', 'chromosome': '9', 'clinical-signed-out': '1', 'comments': None, 'confidence_class': 'AUTO_OK', 'confidence_cv_id': 3, 'cosmic_id': '', 'd_tumor_ad': None, 'd_tumor_dp': None, 'd_tumor_rd': None, 'd_tumor_vfreq': None, 'dbSNP_id': '', 'dmp_sample_mrev_id': 179044, 'dmp_sample_so_id': 178750, 'dmp_variant_id': 135842, 'exon_num': 'exon2', 'gene_id': 'CDKN2A', 'is_hotspot': 0, 'is_reported': 1, 'level': 'LEVEL_4', 'mafreq_1000g': '', 'mrev_comments': '', 'mrev_status_cv_id': 3, 'mrev_status_name': 'MANUL_REVIEW_COMPLETED', 'normal_ad': 0, 'normal_dp': 546, 'normal_vfreq': 0.0, 'occurance_in_normal': '0;0', 'occurance_in_pop': None, 'oncogenic': 'Oncogenic', 'oncokb_interpretation': 'The CDKN2A gene encodes two proteins, p16INK4A and p14ARF, that regulate the cell growth and survival. CDKN2A is altered by mutation and/or deletion in a broad range of solid and hematologic cancers. The CDKN2A P114L mutation is known to be oncogenic. Laboratory data suggest that cancer cells with loss-of-function alterations of CDKN2A may be sensitive to CDK4/6 inhibitors such as palbociclib, ribociclib and abemaciclib. - Updated: 02/15/2023', 'oncokb_ver': 'v4.12', 'ref_allele': 'GG', 'rlevel': None, 's_tumor_ad': None, 's_tumor_dp': None, 's_tumor_rd': None, 's_tumor_vfreq': None, 'snp_indel_tool_name': 'VARDICT_MUTECT2', 'snp_indel_variant_id': 27646088, 'so_comments': 'Note: Abundance of G>A, C>T, GG>AA, and CC>TT transition mutations is suggestive of UV exposure induced mutagenesis.', 'so_status_cv_id': 5, 'so_status_name': 'SIGNOUT_FINALIZED', 'start_position': 21971016, 'transcript_id': 'NM_000077', 'treatments': 'Palbociclib (4), Ribociclib (4), Abemaciclib (4)', 'tumor_ad': 351, 'tumor_dp': 604, 'tumor_vfreq': 0.58113, 'variant_class': 'nonsynonymous_SNV', 'variant_class_cv_id': 1, 'variant_status_cv_id': 1, 'variant_status_name': 'NEW_VARIANT'}

{'aa_change': 'p.P114L', 'alt_allele': 'AA', 'cDNA_change': 'c.341_342delinsTT', 'chromosome': '9', 'clinical-signed-out': '1', 'comments': None, 'confidence_class': 'AUTO_OK', 'confidence_cv_id': 3, 'cosmic_id': '', 'dbSNP_id': '', 'dmp_sample_mrev_id': 179044, 'dmp_sample_so_id': 178750, 'dmp_variant_id': 135842, 'exon_num': 'exon2', 'gene_id': 'CDKN2Ap16INK4A', 'is_hotspot': 0, 'level': 'LEVEL_4', 'mafreq_1000g': '', 'mrev_comments': '', 'mrev_status_cv_id': 3, 'mrev_status_name': 'MANUL_REVIEW_COMPLETED', 'normal_ad': 0, 'normal_dp': 546, 'normal_vfreq': 0.0, 'occurance_in_normal': '0;0', 'occurance_in_pop': None, 'oncogenic': 'Oncogenic', 'oncokb_interpretation': 'The CDKN2A gene encodes two proteins, p16INK4A and p14ARF, that regulate the cell growth and survival. CDKN2A is altered by mutation and/or deletion in a broad range of solid and hematologic cancers. The CDKN2A P114L mutation is known to be oncogenic. Laboratory data suggest that cancer cells with loss-of-function alterations of CDKN2A may be sensitive to CDK4/6 inhibitors such as palbociclib, ribociclib and abemaciclib. - Updated: 02/15/2023', 'oncokb_reported': 1, 'oncokb_ver': 'v4.12', 'ref_allele': 'GG', 'rlevel': None, 'snp_indel_tool_name': 'VARDICT_MUTECT2', 'snp_indel_variant_id': 27646088, 'so_comments': 'Note: Abundance of G>A, C>T, GG>AA, and CC>TT transition mutations is suggestive of UV exposure induced mutagenesis.', 'so_status_cv_id': 5, 'so_status_name': 'SIGNOUT_FINALIZED', 'start_position': 21971016, 'transcript_id': 'NM_000077', 'treatments': 'Palbociclib (4), Ribociclib (4), Abemaciclib (4)', 'tumor_ad': 351, 'tumor_dp': 604, 'tumor_vfreq': 0.58113, 'variant_class': 'nonsynonymous_SNV', 'variant_class_cv_id': 1, 'variant_status_cv_id': 1, 'variant_status_name': 'NEW_VARIANT'}

// Sample ID: P-0100882-T01-IM7
{'aa_change': 'p.P114L', 'alt_allele': 'AA', 'cDNA_change': 'c.341_342delinsTT', 'chromosome': '9', 'clinical-signed-out': '1', 'comments': None, 'confidence_class': 'AUTO_OK', 'confidence_cv_id': 3, 'cosmic_id': '', 'd_tumor_ad': None, 'd_tumor_dp': None, 'd_tumor_rd': None, 'd_tumor_vfreq': None, 'dbSNP_id': '', 'dmp_sample_mrev_id': 179044, 'dmp_sample_so_id': 178750, 'dmp_variant_id': 135842, 'exon_num': 'exon2', 'gene_id': 'CDKN2A', 'is_hotspot': 0, 'is_reported': 1, 'level': 'LEVEL_4', 'mafreq_1000g': '', 'mrev_comments': '', 'mrev_status_cv_id': 3, 'mrev_status_name': 'MANUL_REVIEW_COMPLETED', 'normal_ad': 0, 'normal_dp': 546, 'normal_vfreq': 0.0, 'occurance_in_normal': '0;0', 'occurance_in_pop': None, 'oncogenic': 'Oncogenic', 'oncokb_interpretation': 'The CDKN2A gene encodes two proteins, p16INK4A and p14ARF, that regulate the cell growth and survival. CDKN2A is altered by mutation and/or deletion in a broad range of solid and hematologic cancers. The CDKN2A P114L mutation is known to be oncogenic. Laboratory data suggest that cancer cells with loss-of-function alterations of CDKN2A may be sensitive to CDK4/6 inhibitors such as palbociclib, ribociclib and abemaciclib. - Updated: 02/15/2023', 'oncokb_ver': 'v4.12', 'ref_allele': 'GG', 'rlevel': None, 's_tumor_ad': None, 's_tumor_dp': None, 's_tumor_rd': None, 's_tumor_vfreq': None, 'snp_indel_tool_name': 'VARDICT_MUTECT2', 'snp_indel_variant_id': 27646088, 'so_comments': 'Note: Abundance of G>A, C>T, GG>AA, and CC>TT transition mutations is suggestive of UV exposure induced mutagenesis.', 'so_status_cv_id': 5, 'so_status_name': 'SIGNOUT_FINALIZED', 'start_position': 21971016, 'transcript_id': 'NM_000077', 'treatments': 'Palbociclib (4), Ribociclib (4), Abemaciclib (4)', 'tumor_ad': 351, 'tumor_dp': 604, 'tumor_vfreq': 0.58113, 'variant_class': 'nonsynonymous_SNV', 'variant_class_cv_id': 1, 'variant_status_cv_id': 1, 'variant_status_name': 'NEW_VARIANT'}

{'aa_change': 'p.R129C', 'alt_allele': 'AA', 'cDNA_change': 'c.384_385delinsTT', 'chromosome': '9', 'clinical-signed-out': '1', 'comments': None, 'confidence_class': 'AUTO_OK', 'confidence_cv_id': 3, 'cosmic_id': '', 'dbSNP_id': '', 'dmp_sample_mrev_id': 179044, 'dmp_sample_so_id': 178750, 'dmp_variant_id': 135843, 'exon_num': 'exon2', 'gene_id': 'CDKN2Ap14ARF', 'is_hotspot': 0, 'level': None, 'mafreq_1000g': '', 'mrev_comments': '', 'mrev_status_cv_id': 3, 'mrev_status_name': 'MANUL_REVIEW_COMPLETED', 'normal_ad': 0, 'normal_dp': 546, 'normal_vfreq': 0.0, 'occurance_in_normal': '0;0', 'occurance_in_pop': None, 'oncogenic': None, 'oncokb_interpretation': None, 'oncokb_reported': 0, 'oncokb_ver': None, 'ref_allele': 'GG', 'rlevel': None, 'snp_indel_tool_name': 'VARDICT_MUTECT2', 'snp_indel_variant_id': 27646089, 'so_comments': 'Note: Abundance of G>A, C>T, GG>AA, and CC>TT transition mutations is suggestive of UV exposure induced mutagenesis.', 'so_status_cv_id': 5, 'so_status_name': 'SIGNOUT_FINALIZED', 'start_position': 21971016, 'transcript_id': 'NM_058195', 'treatments': None, 'tumor_ad': 351, 'tumor_dp': 604, 'tumor_vfreq': 0.58113, 'variant_class': 'nonsynonymous_SNV', 'variant_class_cv_id': 1, 'variant_status_cv_id': 1, 'variant_status_name': 'NEW_VARIANT'}