Uploaded_variation Chromosome.x Location Allele Consequence IMPACT SYMBOL Gene Feature_type Feature BIOTYPE EXON INTRON HGVSc HGVSp cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation DISTANCE STRAND FLAGS SYMBOL_SOURCE HGNC_ID CANONICAL TSL APPRIS REFSEQ_MATCH SOURCE GIVEN_REF USED_REF BAM_EDIT SIFT Sift_score PolyPhen PP_score HGVS_OFFSET AF AFR_AF AMR_AF EAS_AF EUR_AF SAS_AF AA_AF EA_AF gnomAD_AF gnomAD_AFR_AF gnomAD_AMR_AF gnomAD_ASJ_AF gnomAD_EAS_AF gnomAD_FIN_AF gnomAD_NFE_AF gnomAD_OTH_AF gnomAD_SAS_AF CLIN_SIG SOMATIC PHENO PUBMED Condel X1000Gp3_AC X1000Gp3_AF X1000Gp3_AFR_AC X1000Gp3_AFR_AF X1000Gp3_AMR_AC X1000Gp3_AMR_AF X1000Gp3_EAS_AC X1000Gp3_EAS_AF X1000Gp3_EUR_AC X1000Gp3_EUR_AF X1000Gp3_SAS_AC X1000Gp3_SAS_AF ALSPAC_AC ALSPAC_AF AltaiNeandertal Ancestral_allele CADD_phred CADD_raw CADD_raw_rankscore DANN_rankscore DANN_score Denisova ESP6500_AA_AC ESP6500_AA_AF ESP6500_EA_AC ESP6500_EA_AF Eigen.PC.phred Eigen.PC.raw Eigen.PC.raw_rankscore Eigen.phred Eigen.raw Eigen_coding_or_noncoding ExAC_AC ExAC_AF ExAC_AFR_AC ExAC_AFR_AF ExAC_AMR_AC ExAC_AMR_AF ExAC_Adj_AC ExAC_Adj_AF ExAC_EAS_AC ExAC_EAS_AF ExAC_FIN_AC ExAC_FIN_AF ExAC_NFE_AC ExAC_NFE_AF ExAC_SAS_AC ExAC_SAS_AF ExAC_nonTCGA_AC ExAC_nonTCGA_AF ExAC_nonTCGA_AFR_AC ExAC_nonTCGA_AFR_AF ExAC_nonTCGA_AMR_AC ExAC_nonTCGA_AMR_AF ExAC_nonTCGA_Adj_AC ExAC_nonTCGA_Adj_AF ExAC_nonTCGA_EAS_AC ExAC_nonTCGA_EAS_AF ExAC_nonTCGA_FIN_AC ExAC_nonTCGA_FIN_AF ExAC_nonTCGA_NFE_AC ExAC_nonTCGA_NFE_AF ExAC_nonTCGA_SAS_AC ExAC_nonTCGA_SAS_AF ExAC_nonpsych_AC ExAC_nonpsych_AF ExAC_nonpsych_AFR_AC ExAC_nonpsych_AFR_AF ExAC_nonpsych_AMR_AC ExAC_nonpsych_AMR_AF ExAC_nonpsych_Adj_AC ExAC_nonpsych_Adj_AF ExAC_nonpsych_EAS_AC ExAC_nonpsych_EAS_AF ExAC_nonpsych_FIN_AC ExAC_nonpsych_FIN_AF ExAC_nonpsych_NFE_AC ExAC_nonpsych_NFE_AF ExAC_nonpsych_SAS_AC ExAC_nonpsych_SAS_AF FATHMM_converted_rankscore FATHMM_pred FATHMM_score GERP.._NR GERP.._RS GERP.._RS_rankscore GM12878_confidence_value GM12878_fitCons_score GM12878_fitCons_score_rankscore GTEx_V6p_gene GTEx_V6p_tissue GenoCanyon_score GenoCanyon_score_rankscore H1.hESC_confidence_value H1.hESC_fitCons_score H1.hESC_fitCons_score_rankscore HUVEC_confidence_value HUVEC_fitCons_score HUVEC_fitCons_score_rankscore Interpro_domain LRT_Omega LRT_converted_rankscore LRT_pred LRT_score M.CAP_pred MCAP_score M.CAP_rankscore M.CAP_score MetaLR_pred MetaLR_rankscore MetaLR_score MetaSVM_pred MetaSVM_rankscore MetaSVM_score MutPred_AAchange MutPred_Top5features MutPred_protID MutPred_rankscore MutPred_score MutationAssessor_UniprotID MutationAssessor_pred MutationAssessor_score MutationAssessor_score_rankscore MutationAssessor_variant MutationTaster_AAE MutationTaster_converted_rankscore MutationTaster_model MutationTaster_pred MT_score MutationTaster_score PROVEAN_converted_rankscore PROVEAN_pred PROVEAN_score REVEL_rankscore REVEL_score REVEL_score.1 Reliability_index SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore SiPhy_29way_pi TWINSUK_AC TWINSUK_AF Transcript_id_VEST3 Transcript_var_VEST3 VEST3_rankscore VEST3_score clinvar_clnsig clinvar_golden_stars clinvar_rs clinvar_trait codon_degeneracy fathmm.MKL_coding_group fathmm.MKL_coding_pred fathmm.MKL_coding_rankscore fathmm.MKL_coding_score gnomAD_exomes_AC gnomAD_exomes_AF gnomAD_exomes_AFR_AC gnomAD_exomes_AFR_AF gnomAD_exomes_AFR_AN gnomAD_exomes_AMR_AC gnomAD_exomes_AMR_AF gnomAD_exomes_AMR_AN gnomAD_exomes_AN gnomAD_exomes_ASJ_AC gnomAD_exomes_ASJ_AF gnomAD_exomes_ASJ_AN gnomAD_exomes_EAS_AC gnomAD_exomes_EAS_AF gnomAD_exomes_EAS_AN gnomAD_exomes_FIN_AC gnomAD_exomes_FIN_AF gnomAD_exomes_FIN_AN gnomAD_exomes_NFE_AC gnomAD_exomes_NFE_AF gnomAD_exomes_NFE_AN gnomAD_exomes_OTH_AC gnomAD_exomes_OTH_AF gnomAD_exomes_OTH_AN gnomAD_exomes_SAS_AC gnomAD_exomes_SAS_AF gnomAD_exomes_SAS_AN gnomAD_genomes_AC gnomAD_genomes_AF gnomAD_genomes_AFR_AC gnomAD_genomes_AFR_AF gnomAD_genomes_AFR_AN gnomAD_genomes_AMR_AC gnomAD_genomes_AMR_AF gnomAD_genomes_AMR_AN gnomAD_genomes_AN gnomAD_genomes_ASJ_AC gnomAD_genomes_ASJ_AF gnomAD_genomes_ASJ_AN gnomAD_genomes_EAS_AC gnomAD_genomes_EAS_AF gnomAD_genomes_EAS_AN gnomAD_genomes_FIN_AC gnomAD_genomes_FIN_AF gnomAD_genomes_FIN_AN gnomAD_genomes_NFE_AC gnomAD_genomes_NFE_AF gnomAD_genomes_NFE_AN gnomAD_genomes_OTH_AC gnomAD_genomes_OTH_AF gnomAD_genomes_OTH_AN integrated_confidence_value integrated_fitCons_score integrated_fitCons_score_rankscore phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons20way_mammalian phastCons20way_mammalian_rankscore phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP20way_mammalian phyloP20way_mammalian_rankscore ada_score rf_score MaxEntScan_alt MaxEntScan_diff MaxEntScan_ref Prediction_score Chromosome.y REF ALT ref_count alt_count depth Alt_Freq NACT.1 19 52213070 T missense_variant MODERATE PPP2R1A 5518 Transcript NM_014225.5 protein_coding 15-Jun - NM_014225.5:c.767C>T NP_055040.2:p.Ser256Phe 1062 767 256 S/F tCc/tTc "COSM86035,COSM86039" - 1 - EntrezGene HGNC:9302 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.997) 1 - - - - - - - - - 0 - - - - - - - - - "1,1" "1,1" - deleterious(0.911) - - - - - - - - - - - - - - C/C C 33 6.843399 0.92781 0.91731 0.99836849 C/C - - - - 9.053738 0.760526388 0.86658 10.22713 0.866763952 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.37045 "T,T,T" "1.22,1.22,1.22" 4.48 4.48 0.53808 - 0.702456 0.74369 - - 0.999999962 0.74713 - 0.702456 0.68477 - 0.714379 0.83238 "Armadillo-like_helical,Armadillo-type_fold" 0.10549 0.40822 D 0.000967 D 1 0.80461 0.122837124 T 0.68473 0.3146 T 0.78148 -0.1819 S256F "Loss_of_disorder_(P_=_0.0267),_Gain_of_methylation_at_K255_(P_=_0.031),_Loss_of_phosphorylation_at_S256_(P_=_0.0823),_Loss_of_MoRF_binding_(P_=_0.1165),_Loss_of_loop_(P_=_0.1242)" P30153 0.64196 0.533 2AAA_HUMAN H 4.025 0.96974 S256F "S176F,S256F,S201F" 0.81033 "simple_aae,simple_aae,simple_aae" "D,D,D" 1 "0.999998,0.999998,1" 0.88332 "D,.,." "-5.83,.,." 0.7037 0.383 1 10 15.0763 0.71625 0.0:1.0:0.0:0.0 - - "ENST00000322088,ENST00000444322,ENST00000454220,NM_014225.5" "S256F,S201F,S296F,S256F" 0.74183 "0.746,0.746,0.39,0.743" - - - - - AEFDBCI D 0.52712 0.91166 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.706548 0.72963 1 0.71511 0.992 0.5622 5.224 0.64895 0.852 0.36166 - - - - - 5 19 C T 183 289 472 0.6123 NACT.1 17 7673799 C missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.821T>G NP_000537.3:p.Val274Gly 1023 821 274 V/G gTt/gGt "TP53_g.13801T>G,COSM131453,COSM1640826,COSM1640827,COSM165076,COSM241993,COSM3701290,COSM3970339,COSM3970340,COSM43945,COSM44393,COSM44448,COSM4749451" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq A A - deleterious(0) 1 probably_damaging(0.998) 1 - - - - - - - - - 0 - - - - - - - - - "0,1,1,1,1,1,1,1,1,1,1,1,1" "0,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.919) - - - - - - - - - - - - - - A/A A 27.4 5.886138 0.80703 0.80708 0.997047487 A/A - - - - 7.021603 0.657207805 0.79021 7.875458 0.749744436 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99835 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.05,.,.,.,.,.,.,.,-7.05,.,.,-7.05,-7.05,.,.,-7.05,.,.,-7.05" 4.92 4.92 0.64009 - 0.702456 0.74369 - - 0.999993672 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0.312804 0.33204 N 0.00498 D 1 0.97333 0.677350923 D 0.99785 0.9915 D 0.96536 0.9592 V274G "Loss_of_stability_(P_=_0.0034),_Gain_of_methylation_at_R273_(P_=_0.0442),_Gain_of_disorder_(P_=_0.1129),_Loss_of_sheet_(P_=_0.1158),_Gain_of_phosphorylation_at_S269_(P_=_0.1505)" P04637 0.91376 0.792 P53_HUMAN M 2.805 0.82025 V274G "V274G,V274G,V274G,V274G,V274G,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.92456 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-6.47,.,.,.,.,.,.,.,-6.7,.,.,-6.47,-6.47,.,.,-6.7,.,.,-6.05" 0.95974 0.865 1 10 12.5624 0.55458 1.0:0.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "V274G,V142G,V142G,V274G,V235G,V115G,V115G,V274G,V115G,V274G,V274G,V274G,V235G,V235G,V274G,V235G,V274G,V235G,V274G,V142G,V274G,V274G,V142G" 0.82343 "0.774,0.781,0.781,0.76,0.775,0.781,0.781,0.774,0.781,0.774,0.27,0.773,0.775,0.775,0.27,0.775,0.774,0.775,0.774,0.836,0.774,0.774,0.781" "4,4,4,4,4,4,4,4,4,4,4" "0,0,0,0,0,0,0,0,0,0,0" rs1057520006 "Hepatocellular_carcinoma,Adenocarcinoma_of_lung,Pancreatic_adenocarcinoma,Adenocarcinoma_of_prostate,Malignant_melanoma_of_skin,Colorectal_Neoplasms,Ovarian_Serous_Cystadenocarcinoma,Neoplasm_of_brain,Small_cell_lung_cancer,Adenocarcinoma_of_stomach,Neoplasm_of_breast" - AEFGBI D 0.98989 0.99726 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 0.98 0.35019 0.935 0.40839 9.325 0.95975 1.194 0.91554 - - - - - 5 17 A C 57 306 363 0.843 NACT.2 17 43093717 T missense_variant MODERATE BRCA1 672 Transcript NM_007300.3 protein_coding 24-Oct - NM_007300.3:c.1814C>A NP_009231.2:p.Ala605Glu 2046 1814 605 A/E gCa/gAa - - -1 - EntrezGene HGNC:1100 YES - - "rseq_mrna_nonmatch,rseq_no_comparison" RefSeq G G OK tolerated(0.05) 0 possibly_damaging(0.492) 1 - - - - - - - - - 0 - - - - - - - - - - - - deleterious(0.509) - - - - - - - - - - - - - - G/G G 23.4 3.84577 0.51902 0.3897 0.982399026 G/G - - - - 2.324538 -0.010221385 0.39449 2.981349 0.123811274 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.83085 "D,D,D,D,D,D" "-1.7,-1.7,-1.7,-1.7,-1.7,-1.7" 5.02 2.87 0.32379 - 0.724815 0.89291 - - 0.999798685 0.43087 - 0.65145 0.49795 - 0.683762 0.67193 - 0.645072 0.14486 N 0.307236 D 1 0.90887 0.300142041 D 0.88119 0.6581 T 0.81065 -0.0572 A605E "Gain_of_solvent_accessibility_(P_=_0.005),_Gain_of_relative_solvent_accessibility_(P_=_0.0082),_Loss_of_MoRF_binding_(P_=_0.0518),_Gain_of_methylation_at_K604_(P_=_0.0708),_Gain_of_phosphorylation_at_S603_(P_=_0.1104)" E9PFC7 0.28197 0.309 BRCA1_HUMAN H 3.75 0.95127 A605E "A605E,A558E,A605E,A605E,A605E,A309E,.,.,.,.,.,.,.,." 0.08979 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae,without_aae,without_aae,without_aae,without_aae,without_aae,without_aae,without_aae" "N,N,N,N,N,N,N,N,N,N,N,N,N,N" 0 "1,1,1,1,1,1,0.999996,0.999996,0.999996,0.999996,0.999996,0.999996,0.999996,0.999996" 0.74863 D "-3.91,-3.91,-3.95,-3.81,-4.1,-4.1" 0.81947 0.556 1 10 2.8591 0.05199 0.1025:0.1989:0.5214:0.1772 - - "NM_007294.3,CCDS11459.2,ENST00000471181,ENST00000470026,ENST00000346315,ENST00000354071,NM_007300.3,ENST00000412061,ENST00000493795,ENST00000309486,ENST00000357654,ENST00000477152,NM_007297.3" "A605E,A558E,A605E,A605E,A605E,A605E,A605E,A388E,A558E,A309E,A605E,A579E,A558E" 0.7359 "0.643,0.273,0.651,0.667,0.671,0.671,0.643,0.739,0.66,0.26,0.643,0.633,0.655" - - - - - AEFBI N 0.11292 0.05535 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.706548 0.72963 0.001 0.13654 0.962 0.44422 0.826 0.2687 0.142 0.22639 - - - - - 3 17 G T 11 2 13 0.1538 NACT.2 17 43093754 A missense_variant MODERATE BRCA1 672 Transcript NM_007300.3 protein_coding 24-Oct - NM_007300.3:c.1777A>T NP_009231.2:p.Asn593Tyr 2009 1777 593 N/Y Aat/Tat - - -1 - EntrezGene HGNC:1100 YES - - "rseq_mrna_nonmatch,rseq_no_comparison" RefSeq T T OK deleterious(0) 1 probably_damaging(0.956) 1 - - - - - - - - - 0 - - - - - - - - - - - - deleterious(0.844) - - - - - - - - - - - - - - T/T T 24.4 4.579575 0.61334 0.45511 0.987696833 T/T - - - - 2.449042 0.025641886 0.41147 3.524082 0.248349707 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.84279 "D,D,D,D,D,D" "-1.85,-1.85,-1.85,-1.85,-1.85,-1.85" 4.69 1.11 0.19548 - 0.653731 0.59439 - - 0.99945574 0.39726 - 0.65145 0.49795 - 0.683762 0.67193 - 0.442673 0.21346 N 0.073245 D 1 0.94312 0.448077813 D 0.92418 0.7768 D 0.82644 0.0189 N593Y "Gain_of_phosphorylation_at_N593_(P_=_0.035),_Gain_of_sheet_(P_=_0.0827),_Loss_of_loop_(P_=_0.2237),_Loss_of_MoRF_binding_(P_=_0.2584),_Gain_of_catalytic_residue_at_N593_(P_=_0.2685)" E9PFC7 0.31913 0.332 BRCA1_HUMAN H 3.755 0.95167 N593Y "N593Y,N546Y,N593Y,N593Y,N593Y,N297Y,.,.,.,.,.,.,.,." 0.28741 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae,without_aae,without_aae,without_aae,without_aae,without_aae,without_aae,without_aae" "N,N,N,N,N,N,N,N,N,N,N,N,N,N" 0 "0.999953,0.999953,0.999953,0.999958,0.999958,0.999953,0.830524,0.830524,0.830524,0.830524,0.830524,0.830524,0.830524,0.830524" 0.95117 D "-6.95,-6.94,-7.02,-7.53,-6.82,-6.82" 0.77482 0.482 1 10 3.3643 0.06727 0.0:0.2384:0.2339:0.5277 - - "NM_007294.3,CCDS11459.2,ENST00000471181,ENST00000470026,ENST00000346315,ENST00000354071,NM_007300.3,ENST00000412061,ENST00000493795,ENST00000309486,ENST00000357654,ENST00000477152,NM_007297.3" "N593Y,N546Y,N593Y,N593Y,N593Y,N593Y,N593Y,N376Y,N546Y,N297Y,N593Y,N567Y,N546Y" 0.69179 "0.654,0.214,0.637,0.649,0.656,0.656,0.654,0.685,0.643,0.288,0.654,0.617,0.652" - - - - - AEFBI N 0.20491 0.19539 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.6512 0.46512 0.003 0.15906 0.977 0.47957 0.97 0.28779 0.144 0.23057 - - - - - 4 17 T A 9 2 11 0.1818 NACT.2 13 32362620 T stop_gained HIGH BRCA2 675 Transcript NM_000059.3 protein_coding 17/27 - NM_000059.3:c.7903G>T NP_000050.2:p.Glu2635Ter 8130 7903 2635 E/* Gaa/Taa - - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq G G OK - 1 - 1 - - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - G/G G 57 16.903467 0.99974 0.84021 0.997500497 G/G - - - - 33.77224 1.146961963 0.99461 34.69691 1.280019435 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5.66 5.66 0.87243 - 0.653731 0.59439 - - 1 0.98309 - 0.658983 0.55576 - 0.683762 0.67193 "Breast_cancer_type_2_susceptibility_protein,_helical_domain" 0 0.84324 D 0 - 1 - - - - - - - - - - - - - BRCA2_HUMAN - - - E2635* "E2635*,E2635*" 0.81033 "complex_aae,complex_aae" "A,A" 1 "1,1" - - - - - 1 - 20.1041 0.97875 0.0:0.0:1.0:0.0 - - - - - - - - - - - AEFGBHCI D 0.75413 0.97565 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.6512 0.46512 1 0.71511 1 0.88762 9.891 0.9857 1.048 0.71291 - - - - - 5 13 G T 8 2 10 0.2 NACT.2 13 32363526 C missense_variant MODERATE BRCA2 675 Transcript NM_000059.3 protein_coding 18/27 - NM_000059.3:c.8324T>C NP_000050.2:p.Met2775Thr 8551 8324 2775 M/T aTg/aCg rs80359073 - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq T T OK deleterious(0.03) 1 possibly_damaging(0.9) 1 - - - - - - - - - 0 - - - - - - - - "uncertain_significance,likely_benign" - 1 10923033 deleterious(0.721) - - - - - - - - - - - - - - T/T T 23 3.401484 0.46702 0.53301 0.991464823 T/T - - - - 5.227323 0.50744998 0.68585 5.440267 0.548943382 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.79956 "T,T" "-1.34,-1.34" 5.68 4.49 0.54012 - 0.743671 0.97427 - - 0.999229184 0.38746 - 0.658983 0.55576 - 0.655142 0.61628 "BRCA2,_OB1,Nucleic_acid-binding,_OB-fold" 0.07953 0.84324 D 0 D 1 0.79009 0.111509847 D 0.87112 0.6322 D 0.86748 0.2499 M2775T "Loss_of_stability_(P_=_0.0385),_Loss_of_helix_(P_=_0.0444),_Gain_of_sheet_(P_=_0.0477),_Gain_of_relative_solvent_accessibility_(P_=_0.0479),_Gain_of_disorder_(P_=_0.0618)" P51587 0.65777 0.544 BRCA2_HUMAN M 2.6 0.76323 M2775T "M2775T,M2775T" 0.46882 "simple_aae,simple_aae" "D,D" 1 "0.999386,0.999386" 0.34774 N -1.41 0.85597 0.623 1 10 12.6646 0.56019 0.0:0.0:0.143:0.857 - - "NM_000059.3,CCDS9344.1,ENST00000544455,ENST00000380152" "M2775T,M2775T,M2775T,M2775T" 0.69258 "0.686,0.247,0.682,0.686" - - - - - AEFBI D 0.81486 0.98322 - - - - - - - - - - - - - - - - - - - - - - - - - - - 3 9.68E-05 3 3.43E-04 8734 - - 838 30980 - - 302 - - 1622 - - 3494 - - 15008 - - 982 - 0.732398 0.92378 1 0.71511 0.998 0.69722 4.002 0.56521 0.088 0.19368 - - - - - 5 13 T C 13 2 15 0.1333 NACT.2 13 24910094 A splice_region_variant LOW CENPJ 55835 Transcript NM_018451.4 protein_coding - 16-Mar NM_018451.4:c.569-8A>T - - - - - - - - -1 - EntrezGene HGNC:17272 YES - - "rseq_mrna_nonmatch,rseq_3p_mismatch" RefSeq T T OK - 1 - 1 - - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5.38E-06 0 5.753892959 -0.788109389 4.965783569 5 13 T A 8 2 10 0.2 NACT.2 NA missense_variant TP53 NA c.524G>A p.Arg175His NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.3 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.4 4 177362292 T missense_variant MODERATE NEIL3 55247 Transcript NM_018248.2 protein_coding 10-Oct - NM_018248.2:c.1639G>T NP_060718.2:p.Ala547Ser 1756 1639 547 A/S Gca/Tca rs36005630 - 1 - EntrezGene HGNC:24573 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq G G OK deleterious(0) 1 probably_damaging(1) 1 - 0.0016 0 0.0029 0 0.006 0 0.0006812 0.00535 0.003168 0.001136 0.001941 0.0002224 0 0.001368 0.005643 0.003925 3.69E-05 - - - - deleterious(0.945) 8 0.001597444 - 0 2 0.002881844 - 0 6 0.005964215 - 0 34 0.008822003 G/G G 27.5 5.902017 0.80956 0.81057 0.997089267 G/G 3 6.81E-04 46 0.005350081 6.508625 0.621898073 0.76467 6.792921 0.675755344 c 409 3.37E-03 11 1.12E-03 23 2.00E-03 409 3.46E-03 - - 10 1.52E-03 360 5.47E-03 1 6.68E-05 354 3.33E-03 11 1.30E-03 22 1.97E-03 354 3.43E-03 - - 10 1.52E-03 307 5.74E-03 1 6.73E-05 257 2.83E-03 11 1.12E-03 23 2.00E-03 257 2.93E-03 - - 8 2.11E-03 213 5.16E-03 1 6.69E-05 0.25343 T 1.8 5.16 4.31 0.50549 - 0.588066 0.40457 - - 0.999999861 0.74713 - 0.732669 0.93711 - 0.655142 0.61628 "Zinc_finger,_GRF-type" 0 0.84324 D 0 D 1 0.60023 0.041363764 T 0.41146 0.1164 T 0.50549 -0.8701 - - - - - NEIL3_HUMAN M 2.61 0.76576 A547S A547S 0.58814 simple_aae D 1 0.999999 0.34576 N -1.4 0.7004 0.379 1 10 15.2852 0.73407 0.0:0.0:0.8586:0.1414 23 0.006202805 "NM_018248.2,ENST00000264596,CCDS3828.1" "A547S,A547S,A547S" 0.46433 "0.406,0.406,0.151" - - - - - AEFDBI D 0.88003 0.9888 736 3.17E-03 17 1.14E-03 14966 58 1.94E-03 29876 232290 2 2.22E-04 8992 - - 16578 30 1.37E-03 21930 608 5.64E-03 107736 20 3.92E-03 5096 1 3.69E-05 27116 99 3.20E-03 4 4.58E-04 8734 6 7.16E-03 838 30962 - - 302 - - 1620 14 4.01E-03 3492 73 4.87E-03 14996 2 2.04E-03 980 - 0.736574 0.97436 1 0.71511 0.995 0.60354 9.719 0.9798 0.998 0.61349 - - - - - 5 4 G T 451 409 861 0.475029036 NACT.4 17 7674872 C missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jun - NM_000546.5:c.659A>G NP_000537.3:p.Tyr220Cys 861 659 220 Y/C tAt/tGt "rs121912666,CM015378,CM951227,TP53_g.12728A>G,COSM10758,COSM1644277,COSM251426,COSM251427,COSM251428,COSM3355993,COSM3675522,COSM3675523,COSM43850,COSM99718,COSM99719,COSM99720" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 probably_damaging(0.998) 1 - - - - - - - - - 8.12E-06 0 0 0 0 0 1.79E-05 0 0 "likely_pathogenic,pathogenic" "0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1" "159,771,742,540,450,000,000,000" deleterious(0.919) - - - - - - - - - - - - - - T/T T 28.9 6.253491 0.86341 0.88634 0.998030567 T/T - - - - 7.134308 0.664333451 0.79551 7.885704 0.75036264 c 3 2.47E-05 - - - - 3 2.50E-05 - - - - 3 4.54E-05 - - 2 1.88E-05 - - - - 2 1.91E-05 - - - - 2 3.72E-05 - - 2 2.20E-05 - - - - 2 2.23E-05 - - - - 2 4.78E-05 - - 0.99839 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.08,-7.08,.,.,.,.,.,.,.,-7.08,.,.,-7.08,-7.08,.,.,-7.08,.,.,-7.08,-7.08" 5.28 5.28 0.74018 - 0.697927 0.68521 - - 0.999994593 0.74713 - 0.743671 0.96052 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.98004 0.748598574 D 0.99807 0.9921 D 0.9646 0.9542 Y220C "Gain_of_catalytic_residue_at_P219_(P_=_0.0188),_Loss_of_phosphorylation_at_Y220_(P_=_0.0641),_Loss_of_sheet_(P_=_0.1501),_Loss_of_disorder_(P_=_0.1712),_Loss_of_glycosylation_at_P222_(P_=_0.2467)" P04637 0.99132 0.938 P53_HUMAN M 3.165 0.8883 Y220C "Y220C,Y220C,Y220C,Y220C,Y220C,Y220C" 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.97439 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-8.44,-8.36,.,.,.,.,.,.,.,-8.59,.,.,-8.36,-8.36,.,.,-8.59,.,.,-8.07,-8.28" 0.98586 0.936 1 10 13.4753 0.60593 0.0:0.0:0.0:1.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "Y220C,Y88C,Y88C,Y220C,Y220C,Y181C,Y127C,Y61C,Y61C,Y181C,Y61C,Y220C,Y220C,Y220C,Y181C,Y181C,Y220C,Y220C,Y220C,Y181C,Y220C,Y88C,Y220C,Y220C,Y88C" 0.93907 "0.943,0.941,0.941,0.944,0.941,0.943,0.46,0.941,0.941,0.943,0.941,0.943,0.494,0.942,0.943,0.943,0.494,0.943,0.943,0.943,0.943,0.941,0.943,0.943,0.941" "5,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs121912666 "Hereditary_cancer-predisposing_syndrome,not_provided,Li-Fraumeni_syndrome,Glioblastoma,Ovarian_Serous_Cystadenocarcinoma,Renal_cell_carcinoma,Malignant_neoplasm_of_body_of_uterus,Neoplasm_of_breast,Squamous_cell_carcinoma_of_lung,Malignant_melanoma_of_skin,Transitional_cell_carcinoma_of_the_bladder,Papillary_renal_cell_carcinoma,_sporadic,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_stomach,Adenocarcinoma_of_prostate,Neoplasm_of_brain,Uterine_Carcinosarcoma,Hepatocellular_carcinoma,Acute_myeloid_leukemia,Pancreatic_adenocarcinoma,Adenocarcinoma_of_lung,Colorectal_Neoplasms,Small_cell_lung_cancer" - AEFDBI D 0.91846 0.99146 2 8.12E-06 - - 15298 - - 33580 246198 - - 9850 - - 17246 - - 22294 2 1.79E-05 111672 - - 5486 - - 30772 - - - - - - - - - - - - - - - - - - - - - - - - - 0.732398 0.92378 1 0.71511 0.999 0.74975 6.252 0.72206 0.964 0.58031 - - - - - 5 17 T C 725 79 805 0.098136646 NACT.5 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.6 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.7 17 7674947 G missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jun - NM_000546.5:c.584T>C NP_000537.3:p.Ile195Thr 786 584 195 I/T aTc/aCc "CM092575,rs760043106,COSM11089,COSM116921,COSM116922,COSM116923,COSM116924,COSM1645297,COSM1738250,COSM1738251,COSM1738252,COSM1738253,COSM1738254,COSM212744,COSM212745,COSM212746,COSM212747,COSM3403267,COSM3421936,COSM44539,COSM44877,COSM4858456,COSM4858457,COSM6201897,COSM6201898,COSM6201899,COSM6201900,COSM6201901,COSM6201902,COSM6201903" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq A A - deleterious(0) 1 probably_damaging(0.993) 1 - - - - - - - - - 0 - - - - - - - - "likely_pathogenic,pathogenic" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.895) - - - - - - - - - - - - - - A/A A 23.9 4.207412 0.56388 0.56971 0.992642478 A/A - - - - 3.76901 0.308881436 0.5637 4.61876 0.442569974 c 1 8.24E-06 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 1.10E-05 - - - - - - - - - - - - - - 0.99822 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-6.95,-6.95,.,.,.,.,.,.,.,-6.95,.,.,-6.95,-6.95,.,.,-6.95,.,.,-6.95,-6.95" 5.41 3.21 0.35779 - 0.697927 0.68521 - - 0.274860705 0.18927 - 0.702456 0.68477 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0.103171 0.62918 N 0.000004 D 1 0.98364 0.790497249 D 0.99766 0.991 D 0.98297 1.0581 I195T "Loss_of_stability_(P_=_0.002),_Gain_of_disorder_(P_=_0.0102),_Gain_of_methylation_at_R196_(P_=_0.0791),_Gain_of_phosphorylation_at_I195_(P_=_0.112),_Loss_of_sheet_(P_=_0.1158)" P04637 0.98572 0.92 P53_HUMAN M 3.12 0.88148 I195T "I195T,I195T,I195T,I195T,I195T,I195T" 0.52 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "0.999943,0.999943,0.999943,0.999943,0.999943,0.999943" 0.78853 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-4.59,-4.34,.,.,.,.,.,.,.,-4.51,.,.,-4.34,-4.34,.,.,-4.51,.,.,-4.34,-4.42" 0.95465 0.851 1 10 8.2743 0.30846 0.8356:0.0:0.1644:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "I195T,I63T,I63T,I195T,I195T,I156T,I102T,I36T,I36T,I156T,I36T,I195T,I195T,I195T,I156T,I156T,I195T,I195T,I195T,I156T,I195T,I63T,I195T,I195T,I63T" 0.84528 "0.858,0.755,0.755,0.828,0.855,0.856,0.735,0.755,0.755,0.856,0.755,0.858,0.23,0.846,0.856,0.856,0.241,0.858,0.858,0.856,0.858,0.795,0.858,0.858,0.755" "5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,5" "1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" rs760043106 "Li-Fraumeni_syndrome,Neoplasm_of_brain,Neoplasm_of_breast,Adenocarcinoma_of_lung,Acute_myeloid_leukemia,Oesophageal_carcinoma,Chronic_lymphocytic_leukemia,Colorectal_Neoplasms,Squamous_cell_carcinoma_of_lung,Glioblastoma,Hepatocellular_carcinoma,Ovarian_Serous_Cystadenocarcinoma,Pancreatic_adenocarcinoma,Uterine_Carcinosarcoma,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_stomach,Multiple_myeloma,not_provided" - AEFBI D 0.94023 0.99293 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.999 0.74975 9.325 0.95975 1.088 0.86599 - - - - - 5 17 A G 462 41 504 0.0813 NACT.8 17 43045767 A stop_gained HIGH BRCA1 672 Transcript NM_007300.3 protein_coding 24/24 - NM_007300.3:c.5566C>T NP_009231.2:p.Arg1856Ter 5798 5566 1856 R/* Cga/Tga "rs41293465,CD0911092,CM960190,COSM78883" - -1 - EntrezGene HGNC:1100 YES - - "rseq_mrna_nonmatch,rseq_no_comparison" RefSeq G G OK - 1 - 1 - - - - - - - - - 1.22E-05 0 2.98E-05 0 0 0 0 0 6.50E-05 "likely_pathogenic,pathogenic" "0,0,0,1" "1,1,1,1" "2,574,186,820,104,580,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" - - - - - - - - - - - - - - - G/G G 42 13.523002 0.99176 0.65981 0.994699557 G/G - - - - 3.694896 0.29619992 0.55638 4.846032 0.474827711 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5.32 1.8 0.23954 - 0.724815 0.89291 - - 0.002420589 0.09449 - 0.743671 0.96052 - 0.714379 0.83238 BRCT_domain 0.158509 0.29444 N 0.01163 - 1 - - - - - - - - - - - - - BRCA1_HUMAN - - - R1835* "R1835*,R145*,R326*,R68*,R1788*,R1856*,R731*,R1570*,R693*,R1596*,R652*,R684*,R1539*,." 0.81033 "complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,without_aae" "D,D,D,D,D,D,D,D,D,D,D,D,D,D" 1 "1,1,1,1,1,1,1,1,1,1,1,1,1,1" - - - - - 1 - 6.4745 0.21089 0.099:0.0:0.6472:0.2537 - - - - - - "5,5,5,5,4,5" "1,3,2,2,1,1" rs41293465 "not_provided,Breast-ovarian_cancer,_familial_1,Hereditary_cancer-predisposing_syndrome,Hereditary_breast_and_ovarian_cancer_syndrome,Familial_cancer_of_breast,Neoplasm_of_breast" 2 AEFBI D 0.30426 0.5859 3 1.22E-05 - - 15304 1 2.98E-05 33580 246058 - - 9846 - - 17246 - - 22300 - - 111520 - - 5480 2 6.50E-05 30782 - - - - - - - - - - - - - - - - - - - - - - - - - 0.732398 0.92378 1 0.71511 0.869 0.36324 0.95 0.2852 0.154 0.24039 - - - - - 5 17 G A 139 241 380 0.6342 NACT.8 13 32337167 - frameshift_variant HIGH BRCA2 675 Transcript NM_000059.3 protein_coding 27-Nov - NM_000059.3:c.2813del NP_000050.2:p.Ala938GlufsTer22 3040 2813 938 A/X gCa/ga - - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq C C OK - 1 - 1 - - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 13 GC G 488 37 525 0.0705 NACT.8 9 21970957 - frameshift_variant HIGH CDKN2A 1029 Transcript NM_001195132.1 protein_coding 4-Feb - NM_001195132.1:c.367_401del NP_001182061.1:p.His123GlyfsTer7 673-707 367-401 123-134 HRDVARYLRAAA/X CATCGCGATGTCGCACGGTACCTGCGCGCGGCTGCg/g - - -1 - EntrezGene HGNC:1787 YES - - rseq_mrna_match RefSeq GCAGCCGCGCGCAGGTACCGTGCGACATCGCGATG GCAGCCGCGCGCAGGTACCGTGCGACATCGCGATG - - 1 - 1 - - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 9 CGCAGCCGCGCGCAGGTACCGTGCGACATCGCGATG C 470 44 514 0.0856 NACT.8 3 121487680 A missense_variant MODERATE POLQ 10721 Transcript NM_199420.3 protein_coding 16/30 - NM_199420.3:c.5251G>T NP_955452.3:p.Gly1751Trp 5380 5251 1751 G/W Ggg/Tgg rs35775179 - -1 - EntrezGene HGNC:9186 YES - - rseq_mrna_match RefSeq C C - deleterious(0.03) 1 possibly_damaging(0.624) 1 - 0.0072 0.0272 0 0 0 0 0.02589 0.0001163 0.001928 0.02761 0.001072 0 0 0 9.88E-05 0.0009134 0 - - - - deleterious(0.582) 36 0.007188498 36 0.027231467 - 0 - 0 - 0 - 0 - - C/C C 27.1 5.784977 0.79111 0.46168 0.988107109 C/C 114 0.025885559 1 1.16E-04 2.376548 0.005066886 0.4016 2.680127 0.046366081 c 280 2.31E-03 245 2.46E-02 16 1.38E-03 270 2.23E-03 - - - - 8 1.20E-04 - - 251 2.36E-03 218 2.53E-02 15 1.34E-03 241 2.28E-03 - - - - 8 1.47E-04 - - 280 3.09E-03 245 2.46E-02 16 1.39E-03 270 2.99E-03 - - - - 8 1.90E-04 - - 0.48775 ".,T" ".,0.8" 5.77 2.79 0.3165 - 0.614415 0.52142 - - 0.02319458 0.1351 - 0.696353 0.63449 - 0.655142 0.61628 - 1.12575 0.06156 N 0.693677 - 1 - - T 0.22154 0.0522 T 0.24871 -1.0164 - - - - - DPOLQ_HUMAN L 1.79 0.46914 G1751W G1751W 0.08979 simple_aae N 0 1 0.38319 ".,N" ".,-1.59" 0.26048 0.088 0 10 4.9967 0.13496 0.0:0.5657:0.1713:0.263 - - NM_199420.3 G1751W 0.21253 0.175 - - - - - AEFBI N 0.1758 0.13289 474 1.93E-03 422 2.76E-02 15286 36 1.07E-03 33568 245858 - - 9842 - - 17242 - - 22294 11 9.88E-05 111378 5 9.13E-04 5474 - - 30774 249 8.04E-03 244 2.79E-02 8730 4 4.77E-03 838 30964 - - 302 - - 1622 - - 3494 1 6.67E-05 14998 - - 980 - 0.660377 0.49457 0.013 0.18664 0.358 0.24717 0.202 0.16965 0.065 0.171 - - - - - 3 3 C A 703 35 738 0.0474 NACT.8 17 7674947 T frameshift_variant HIGH TP53 7157 Transcript NM_000546.5 protein_coding 11-Jun - NM_000546.5:c.583dup NP_000537.3:p.Ile195AsnfsTer14 785-786 583-584 195 I/NX atc/aAtc - - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq - - - - 1 - 1 - - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 A AT 305 307 612 0.5016 NACT.9 19 52213070 T missense_variant MODERATE PPP2R1A 5518 Transcript NM_014225.5 protein_coding 15-Jun - NM_014225.5:c.767C>T NP_055040.2:p.Ser256Phe 1062 767 256 S/F tCc/tTc "COSM86035,COSM86039" - 1 - EntrezGene HGNC:9302 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.997) 1 - - - - - - - - - 0 - - - - - - - - - "1,1" "1,1" - deleterious(0.911) - - - - - - - - - - - - - - C/C C 33 6.843399 0.92781 0.91731 0.99836849 C/C - - - - 9.053738 0.760526388 0.86658 10.22713 0.866763952 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.37045 "T,T,T" "1.22,1.22,1.22" 4.48 4.48 0.53808 - 0.702456 0.74369 - - 0.999999962 0.74713 - 0.702456 0.68477 - 0.714379 0.83238 "Armadillo-like_helical,Armadillo-type_fold" 0.10549 0.40822 D 0.000967 D 1 0.80461 0.122837124 T 0.68473 0.3146 T 0.78148 -0.1819 S256F "Loss_of_disorder_(P_=_0.0267),_Gain_of_methylation_at_K255_(P_=_0.031),_Loss_of_phosphorylation_at_S256_(P_=_0.0823),_Loss_of_MoRF_binding_(P_=_0.1165),_Loss_of_loop_(P_=_0.1242)" P30153 0.64196 0.533 2AAA_HUMAN H 4.025 0.96974 S256F "S176F,S256F,S201F" 0.81033 "simple_aae,simple_aae,simple_aae" "D,D,D" 1 "0.999998,0.999998,1" 0.88332 "D,.,." "-5.83,.,." 0.7037 0.383 1 10 15.0763 0.71625 0.0:1.0:0.0:0.0 - - "ENST00000322088,ENST00000444322,ENST00000454220,NM_014225.5" "S256F,S201F,S296F,S256F" 0.74183 "0.746,0.746,0.39,0.743" - - - - - AEFDBCI D 0.52712 0.91166 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.706548 0.72963 1 0.71511 0.992 0.5622 5.224 0.64895 0.852 0.36166 - - - - - 5 19 C T 303 437 740 0.5905 NACT.9 17 7673799 C missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.821T>G NP_000537.3:p.Val274Gly 1023 821 274 V/G gTt/gGt "TP53_g.13801T>G,COSM131453,COSM1640826,COSM1640827,COSM165076,COSM241993,COSM3701290,COSM3970339,COSM3970340,COSM43945,COSM44393,COSM44448,COSM4749451" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq A A - deleterious(0) 1 probably_damaging(0.998) 1 - - - - - - - - - 0 - - - - - - - - - "0,1,1,1,1,1,1,1,1,1,1,1,1" "0,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.919) - - - - - - - - - - - - - - A/A A 27.4 5.886138 0.80703 0.80708 0.997047487 A/A - - - - 7.021603 0.657207805 0.79021 7.875458 0.749744436 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99835 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.05,.,.,.,.,.,.,.,-7.05,.,.,-7.05,-7.05,.,.,-7.05,.,.,-7.05" 4.92 4.92 0.64009 - 0.702456 0.74369 - - 0.999993672 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0.312804 0.33204 N 0.00498 D 1 0.97333 0.677350923 D 0.99785 0.9915 D 0.96536 0.9592 V274G "Loss_of_stability_(P_=_0.0034),_Gain_of_methylation_at_R273_(P_=_0.0442),_Gain_of_disorder_(P_=_0.1129),_Loss_of_sheet_(P_=_0.1158),_Gain_of_phosphorylation_at_S269_(P_=_0.1505)" P04637 0.91376 0.792 P53_HUMAN M 2.805 0.82025 V274G "V274G,V274G,V274G,V274G,V274G,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.92456 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-6.47,.,.,.,.,.,.,.,-6.7,.,.,-6.47,-6.47,.,.,-6.7,.,.,-6.05" 0.95974 0.865 1 10 12.5624 0.55458 1.0:0.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "V274G,V142G,V142G,V274G,V235G,V115G,V115G,V274G,V115G,V274G,V274G,V274G,V235G,V235G,V274G,V235G,V274G,V235G,V274G,V142G,V274G,V274G,V142G" 0.82343 "0.774,0.781,0.781,0.76,0.775,0.781,0.781,0.774,0.781,0.774,0.27,0.773,0.775,0.775,0.27,0.775,0.774,0.775,0.774,0.836,0.774,0.774,0.781" "4,4,4,4,4,4,4,4,4,4,4" "0,0,0,0,0,0,0,0,0,0,0" rs1057520006 "Hepatocellular_carcinoma,Adenocarcinoma_of_lung,Pancreatic_adenocarcinoma,Adenocarcinoma_of_prostate,Malignant_melanoma_of_skin,Colorectal_Neoplasms,Ovarian_Serous_Cystadenocarcinoma,Neoplasm_of_brain,Small_cell_lung_cancer,Adenocarcinoma_of_stomach,Neoplasm_of_breast" - AEFGBI D 0.98989 0.99726 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 0.98 0.35019 0.935 0.40839 9.325 0.95975 1.194 0.91554 - - - - - 5 17 A C 67 456 523 0.8719 NACT.10 17 7674291 A splice_region_variant HIGH TP53 7157 Transcript NM_000546.5 protein_coding - 10-Jun NM_000546.5:c.673-1G>T - - - - - - "rs878854073,CS011061,COSM131547,COSM131548,COSM131549,COSM1646848,COSM1649398,COSM1725566,COSM3378445,COSM3403264,COSM344603,COSM344604,COSM344605,COSM3787443,COSM43751,COSM45135,COSM45675,COSM562645,COSM562646,COSM562647" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - - 1 - 1 - - - - - - - - - 0 - - - - - - - - pathogenic "0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.999988248 0.926 -0.071259784 8.59837621 8.527116426 5 17 C A 336 143 481 0.297297297 NACT.11 17 43093215 - frameshift_variant HIGH BRCA1 672 Transcript NM_007300.3 protein_coding 24-Oct - NM_007300.3:c.2275_2315del NP_009231.2:p.Gln759ThrfsTer4 2507-2547 2275-2315 759-772 QTERSVESSSISLV/X CAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTa/a - - -1 - EntrezGene HGNC:1100 YES - - "rseq_mrna_nonmatch,rseq_no_comparison" RefSeq ACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTG ACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTG OK - 1 - 1 - - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 TACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTG T 356 107 463 0.2311 NACT.11 17 7674872 C missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jun - NM_000546.5:c.659A>G NP_000537.3:p.Tyr220Cys 861 659 220 Y/C tAt/tGt "rs121912666,CM015378,CM951227,TP53_g.12728A>G,COSM10758,COSM1644277,COSM251426,COSM251427,COSM251428,COSM3355993,COSM3675522,COSM3675523,COSM43850,COSM99718,COSM99719,COSM99720" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 probably_damaging(0.998) 1 - - - - - - - - - 8.12E-06 0 0 0 0 0 1.79E-05 0 0 "likely_pathogenic,pathogenic" "0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1" "159,771,742,540,450,000,000,000" deleterious(0.919) - - - - - - - - - - - - - - T/T T 28.9 6.253491 0.86341 0.88634 0.998030567 T/T - - - - 7.134308 0.664333451 0.79551 7.885704 0.75036264 c 3 2.47E-05 - - - - 3 2.50E-05 - - - - 3 4.54E-05 - - 2 1.88E-05 - - - - 2 1.91E-05 - - - - 2 3.72E-05 - - 2 2.20E-05 - - - - 2 2.23E-05 - - - - 2 4.78E-05 - - 0.99839 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.08,-7.08,.,.,.,.,.,.,.,-7.08,.,.,-7.08,-7.08,.,.,-7.08,.,.,-7.08,-7.08" 5.28 5.28 0.74018 - 0.697927 0.68521 - - 0.999994593 0.74713 - 0.743671 0.96052 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.98004 0.748598574 D 0.99807 0.9921 D 0.9646 0.9542 Y220C "Gain_of_catalytic_residue_at_P219_(P_=_0.0188),_Loss_of_phosphorylation_at_Y220_(P_=_0.0641),_Loss_of_sheet_(P_=_0.1501),_Loss_of_disorder_(P_=_0.1712),_Loss_of_glycosylation_at_P222_(P_=_0.2467)" P04637 0.99132 0.938 P53_HUMAN M 3.165 0.8883 Y220C "Y220C,Y220C,Y220C,Y220C,Y220C,Y220C" 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.97439 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-8.44,-8.36,.,.,.,.,.,.,.,-8.59,.,.,-8.36,-8.36,.,.,-8.59,.,.,-8.07,-8.28" 0.98586 0.936 1 10 13.4753 0.60593 0.0:0.0:0.0:1.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "Y220C,Y88C,Y88C,Y220C,Y220C,Y181C,Y127C,Y61C,Y61C,Y181C,Y61C,Y220C,Y220C,Y220C,Y181C,Y181C,Y220C,Y220C,Y220C,Y181C,Y220C,Y88C,Y220C,Y220C,Y88C" 0.93907 "0.943,0.941,0.941,0.944,0.941,0.943,0.46,0.941,0.941,0.943,0.941,0.943,0.494,0.942,0.943,0.943,0.494,0.943,0.943,0.943,0.943,0.941,0.943,0.943,0.941" "5,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs121912666 "Hereditary_cancer-predisposing_syndrome,not_provided,Li-Fraumeni_syndrome,Glioblastoma,Ovarian_Serous_Cystadenocarcinoma,Renal_cell_carcinoma,Malignant_neoplasm_of_body_of_uterus,Neoplasm_of_breast,Squamous_cell_carcinoma_of_lung,Malignant_melanoma_of_skin,Transitional_cell_carcinoma_of_the_bladder,Papillary_renal_cell_carcinoma,_sporadic,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_stomach,Adenocarcinoma_of_prostate,Neoplasm_of_brain,Uterine_Carcinosarcoma,Hepatocellular_carcinoma,Acute_myeloid_leukemia,Pancreatic_adenocarcinoma,Adenocarcinoma_of_lung,Colorectal_Neoplasms,Small_cell_lung_cancer" - AEFDBI D 0.91846 0.99146 2 8.12E-06 - - 15298 - - 33580 246198 - - 9850 - - 17246 - - 22294 2 1.79E-05 111672 - - 5486 - - 30772 - - - - - - - - - - - - - - - - - - - - - - - - - 0.732398 0.92378 1 0.71511 0.999 0.74975 6.252 0.72206 0.964 0.58031 - - - - - 5 17 T C 177 496 673 0.737 NACT.12 2 173359357 A missense_variant MODERATE CDCA7 83879 Transcript NM_031942.4 protein_coding 10-Mar - NM_031942.4:c.250G>A NP_114148.3:p.Asp84Asn 381 250 84 D/N Gat/Aat - - 1 - EntrezGene HGNC:14628 YES - - rseq_mrna_match RefSeq G G - tolerated(0.15) 0 probably_damaging(0.964) 1 - - - - - - - - - 0 - - - - - - - - - - - - deleterious(0.647) - - - - - - - - - - - - - - G/G G 24.7 4.739477 0.63557 0.86935 0.99784237 G/G - - - - 5.495787 0.535188133 0.70427 4.946445 0.488366925 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.44858 T 0.91 5.95 5.95 0.96402 - 0.516746 0.07749 - - 1 0.98309 - 0.724815 0.8784 - 0.655142 0.61628 - 0 0.5373 D 0.000043 D 1 0.61544 0.044281741 T 0.53252 0.1837 T 0.35619 -0.9773 D84N "Loss_of_disorder_(P_=_0.1481),_Loss_of_helix_(P_=_0.1706),_Loss_of_phosphorylation_at_S80_(P_=_0.2842),_Loss_of_loop_(P_=_0.2897),_Loss_of_stability_(P_=_0.4796)" ENST00000306721 0.08656 0.179 - - - - - "D84N,.,.,.,." 0.81033 "simple_aae,without_aae,without_aae,without_aae,without_aae" "D,D,D,D,D" 1 "0.923702,1,1,1,1" 0.1249 N -0.33 0.5081 0.212 0 9 20.3812 0.9893 0.0:0.0:1.0:0.0 - - "NM_031942.4,ENST00000306721" "D84N,D84N" 0.14105 "0.125,0.125" - - - - - ALL D 0.52899 0.9126 2 8.12E-06 - - 15302 - - 33582 246256 - - 9850 - - 17248 - - 22298 2 1.79E-05 111710 - - 5486 - - 30780 - - - - - - - - - - - - - - - - - - - - - - - - - 0.706548 0.72963 1 0.71511 1 0.88762 4.347 0.58911 1.048 0.71291 - - - - - 3 2 G A 560 306 866 0.3533 NACT.12 NA missense_variant TP53 NA c.526T>C p.Cys176Arg NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.13 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.14 17 43057062 G frameshift_variant HIGH BRCA1 672 Transcript NM_007300.3 protein_coding 20/24 - NM_007300.3:c.5329dup NP_009231.2:p.Gln1777ProfsTer74 5561-5562 5329-5330 1777 Q/PX cag/cCag rs397507247 - -1 - EntrezGene HGNC:1100 YES - - "rseq_mrna_nonmatch,rseq_no_comparison" RefSeq - - OK - 1 - 1 - - - - - - - - - 0.0001584 0 2.98E-05 0.002335 0 0 0.0001253 0.0001823 0 "pathogenic,risk_factor" - - "25741868,24033266,27067391,11389159,26467025,18694767,21324516,22006311,23199084,26295337,10699917,10788334,15024741,20345474,20569256,15133502,19208665,8531967,7894492,20507347,22032251,8841191,9042909,9150173,10447273,11170903,15353005,15951956,15994883,16541315,17307836,18762988,18940477,20301425,21119707,21503673,22185575,22430266,23232912" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 T TG 314 506 820 0.6171 NACT.14 13 32379885 A frameshift_variant HIGH BRCA2 675 Transcript NM_000059.3 protein_coding 23/27 - NM_000059.3:c.9097dup NP_000050.2:p.Thr3033AsnfsTer11 9316-9317 9089-9090 3030 T/TX aca/acAa - - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq - - OK - 1 - 1 8 - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 13 C CA 926 22 948 0.0232 NACT.14 NA missense_variant TP53 NA c.989T>G p.L330R NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.15 19 52219818 G missense_variant MODERATE PPP2R1A 5518 Transcript NM_014225.5 protein_coding 15-Oct - NM_014225.5:c.1256T>G NP_055040.2:p.Val419Gly 1551 1256 419 V/G gTg/gGg "rs774020151,COSM4132359" - 1 - EntrezGene HGNC:9302 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 possibly_damaging(0.464) 1 - - - - - - - - - 2.55E-05 0 0 0 0 5.50E-05 3.73E-05 0 3.29E-05 - "0,1" "0,1" - deleterious(0.597) - - - - - - - - - - - - - - T/T T 24.2 4.447214 0.59534 0.83493 0.997425658 T/T - - - - 7.377658 0.679024217 0.80629 7.885182 0.750331297 c 10 8.24E-05 - - 1 9.06E-05 10 8.74E-05 1 1.20E-04 2 3.83E-04 5 7.87E-05 - - 6 5.65E-05 - - - - 6 5.96E-05 1 1.32E-04 2 3.83E-04 2 3.82E-05 - - 10 1.10E-04 - - 1 9.07E-05 10 1.17E-04 1 1.86E-04 2 5.72E-04 5 1.26E-04 - - 0.31724 "T,T" "1.48,1.48" 4.78 4.78 0.60516 - 0.702456 0.74369 - - 0.999998728 0.74713 - 0.724815 0.8784 - 0.714379 0.83238 "Armadillo-like_helical,Armadillo-type_fold" 0 0.5373 D 0.000045 D 1 0.84925 0.171417668 T 0.6461 0.2741 T 0.75075 -0.2974 - - - - - 2AAA_HUMAN H 3.71 0.94814 V419G "V339G,V419G,V364G" 0.81033 "simple_aae,simple_aae,simple_aae" "D,D,D" 1 "1,1,1" 0.92629 "D,." "-6.74,." 0.8189 0.555 1 10 12.623 0.55792 0.0:0.0:0.0:1.0 - - "ENST00000322088,ENST00000444322,NM_014225.5" "V419G,V364G,V419G" 0.99053 "0.987,0.987,0.969" - - - - - AEFDBI D 0.76721 0.97753 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.706548 0.72963 1 0.71511 0.998 0.69722 5.509 0.6651 1.061 0.80716 - - - - - 5 19 T G 409 11 420 0.0262 NACT.15 17 7674262 C missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jul - NM_000546.5:c.701A>G NP_000537.3:p.Tyr234Cys 903 701 234 Y/C tAc/tGc "rs587780073,CM035576,COSM10725,COSM1646849,COSM1646850,COSM165072,COSM165073,COSM165074,COSM3388193,COSM43865,COSM44315,COSM4861442,COSM99953,COSM99954,COSM99955" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 probably_damaging(0.98) 1 - - - - - - - - - 0 0 0 0 0 0 0 0 0 "likely_pathogenic,pathogenic" "0,0,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.869) - - - - - - - - - - - - - - T/T T 25.3 5.096315 0.68677 0.80777 0.99704929 T/T - - - - 4.421081 0.408767185 0.62321 5.128426 0.511802198 c 1 8.24E-06 - - - - 1 8.24E-06 - - - - 1 1.50E-05 - - - - - - - - - - - - - - - - - - 1 1.10E-05 - - - - 1 1.10E-05 - - - - 1 2.37E-05 - - 0.99826 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-6.98,-6.98,.,.,.,.,.,.,.,-6.98,.,.,-6.98,-6.98,.,.,-6.98,.,.,-6.98,-6.98" 4.62 3.49 0.38904 - 0.702456 0.74369 - - 4.31E-04 0.0698 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0.2119 0.41644 D 0.000804 D 1 0.99144 0.886561796 D 0.99759 0.9908 D 0.9788 1.0384 Y234C "Loss_of_phosphorylation_at_Y234_(P_=_0.1305),_Loss_of_sheet_(P_=_0.1501),_Gain_of_loop_(P_=_0.2045),_Gain_of_catalytic_residue_at_I232_(P_=_0.205),_Gain_of_disorder_(P_=_0.2303)" P04637 0.98841 0.928 P53_HUMAN M 2.93 0.84781 Y234C "Y234C,Y234C,Y234C,Y234C,Y234C,Y234C" 0.50834 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "0.999909,0.999909,0.999909,0.999909,0.999909,0.999909" 0.90275 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-5.92,-6.18,.,.,.,.,.,.,.,-6.18,.,.,-6.18,-6.18,.,.,-6.18,.,.,-5.9,-5.97" 0.98905 0.945 1 10 9.0203 0.3517 0.1783:0.0:0.0:0.8216 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "Y234C,Y102C,Y102C,Y234C,Y234C,Y195C,Y141C,Y75C,Y75C,Y195C,Y75C,Y234C,Y234C,Y234C,Y195C,Y195C,Y234C,Y234C,Y234C,Y195C,Y234C,Y102C,Y234C,Y234C,Y102C" 0.91935 "0.927,0.898,0.898,0.915,0.926,0.878,0.812,0.898,0.898,0.878,0.898,0.927,0.474,0.9,0.878,0.878,0.465,0.927,0.927,0.878,0.927,0.884,0.927,0.927,0.898" "5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs587780073 "not_provided,Li-Fraumeni_syndrome,Glioblastoma,Neoplasm_of_breast,Oesophageal_carcinoma,Colorectal_Neoplasms,Transitional_cell_carcinoma_of_the_bladder,Hepatocellular_carcinoma,Adenocarcinoma_of_prostate,Pancreatic_adenocarcinoma,Adrenocortical_carcinoma,Ovarian_Serous_Cystadenocarcinoma,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_stomach,Small_cell_lung_cancer,Squamous_cell_carcinoma_of_lung" - AEFBHI D 0.61924 0.9474 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 1 0.88762 1.63 0.36465 0.961 0.56703 - - - - - 5 17 T C 729 110 839 0.1311 NACT.16 17 7674230 T missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jul - NM_000546.5:c.733G>A NP_000537.3:p.Gly245Ser 935 733 245 G/S Ggc/Agc "rs28934575,CM010463,CM900210,CM920674,TP53_g.13370G>A,COSM10957,COSM11081,COSM121035,COSM121036,COSM121037,COSM1610835,COSM1610836,COSM1610837,COSM1640833,COSM1646855,COSM3356965,COSM3388190,COSM3717639,COSM3717640,COSM3726870,COSM3726871,COSM3726872,COSM3726873,COSM3726874,COSM44642,COSM562651,COSM562652,COSM562653,COSM6932" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.998) 1 - - - - - - - 0 0.0001163 0 0 0 0 0 0 0 0 0 "likely_pathogenic,pathogenic" "0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "2,503,270,025,105,660,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" deleterious(0.919) - - - - - - - - - - - - - - C/C C 35 7.706247 0.95458 0.94502 0.998672784 C/C - 0 1 1.16E-04 8.805662 0.750228246 0.859 9.103262 0.816079058 c 1 8.24E-06 - - - - 1 8.24E-06 - - - - 1 1.50E-05 - - - - - - - - - - - - - - - - - - 1 1.10E-05 - - - - 1 1.10E-05 - - - - 1 2.37E-05 - - 0.99893 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.58,-7.58,.,.,.,.,.,.,.,-7.58,.,.,-7.58,-7.58,.,.,-7.58,.,.,-7.58,-7.58" 4.62 4.62 0.56785 - 0.702456 0.74369 - - 0.999994428 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.96688 0.617004322 D 0.99867 0.9942 D 0.95707 0.9023 - - - - - P53_HUMAN M 2.62 0.76902 G245S "G245S,G245S,G245S,G245S,G245S,G245S" 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.88671 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-5.63,-5.83,.,.,.,.,.,.,.,-5.88,.,.,-5.83,-5.83,.,.,-5.88,.,.,-5.53,-5.18" 0.98973 0.947 1 10 15.3618 0.74084 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "G245S,G113S,G113S,G245S,G245S,G206S,G152S,G86S,G86S,G206S,G86S,G245S,G245S,G245S,G206S,G206S,G245S,G245S,G245S,G206S,G245S,G113S,G245S,G245S,G113S" 0.97762 "0.974,0.975,0.975,0.968,0.971,0.976,0.594,0.975,0.975,0.976,0.975,0.974,0.638,0.971,0.976,0.976,0.655,0.976,0.976,0.976,0.976,0.97,0.976,0.976,0.975" "5,5,5,4,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "0,1,0,0,2,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs28934575 "Li-Fraumeni-like_syndrome,Hereditary_cancer-predisposing_syndrome,Li-Fraumeni_syndrome_1,Adenocarcinoma,not_provided,Li-Fraumeni_syndrome,Adenocarcinoma_of_prostate,Squamous_cell_carcinoma_of_the_head_and_neck,Glioblastoma,Adenocarcinoma_of_lung,Neoplasm,Uterine_Carcinosarcoma,Squamous_cell_carcinoma_of_lung,Oesophageal_carcinoma,Neoplasm_of_brain,Adenocarcinoma_of_stomach,Transitional_cell_carcinoma_of_the_bladder,Neoplasm_of_breast,Pancreatic_adenocarcinoma,Brainstem_glioma,Hepatocellular_carcinoma,Ovarian_Serous_Cystadenocarcinoma,Colorectal_Neoplasms" - AEFBHI D 0.91057 0.99093 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.973 0.46808 7.905 0.86375 0.848 0.34754 - - - - - 5 17 C T 274 300 577 0.519930676 NACT.17 19 52219818 G missense_variant MODERATE PPP2R1A 5518 Transcript NM_014225.5 protein_coding 15-Oct - NM_014225.5:c.1256T>G NP_055040.2:p.Val419Gly 1551 1256 419 V/G gTg/gGg "rs774020151,COSM4132359" - 1 - EntrezGene HGNC:9302 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 possibly_damaging(0.464) 1 - - - - - - - - - 2.55E-05 0 0 0 0 5.50E-05 3.73E-05 0 3.29E-05 - "0,1" "0,1" - deleterious(0.597) - - - - - - - - - - - - - - T/T T 24.2 4.447214 0.59534 0.83493 0.997425658 T/T - - - - 7.377658 0.679024217 0.80629 7.885182 0.750331297 c 10 8.24E-05 - - 1 9.06E-05 10 8.74E-05 1 1.20E-04 2 3.83E-04 5 7.87E-05 - - 6 5.65E-05 - - - - 6 5.96E-05 1 1.32E-04 2 3.83E-04 2 3.82E-05 - - 10 1.10E-04 - - 1 9.07E-05 10 1.17E-04 1 1.86E-04 2 5.72E-04 5 1.26E-04 - - 0.31724 "T,T" "1.48,1.48" 4.78 4.78 0.60516 - 0.702456 0.74369 - - 0.999998728 0.74713 - 0.724815 0.8784 - 0.714379 0.83238 "Armadillo-like_helical,Armadillo-type_fold" 0 0.5373 D 0.000045 D 1 0.84925 0.171417668 T 0.6461 0.2741 T 0.75075 -0.2974 - - - - - 2AAA_HUMAN H 3.71 0.94814 V419G "V339G,V419G,V364G" 0.81033 "simple_aae,simple_aae,simple_aae" "D,D,D" 1 "1,1,1" 0.92629 "D,." "-6.74,." 0.8189 0.555 1 10 12.623 0.55792 0.0:0.0:0.0:1.0 - - "ENST00000322088,ENST00000444322,NM_014225.5" "V419G,V364G,V419G" 0.99053 "0.987,0.987,0.969" - - - - - AEFDBI D 0.76721 0.97753 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.706548 0.72963 1 0.71511 0.998 0.69722 5.509 0.6651 1.061 0.80716 - - - - - 5 19 T G 282 8 290 0.0276 NACT.17 NA missense_variant TP53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.18 17 7673571 - frameshift_variant HIGH TP53 7157 Transcript NM_000546.5 protein_coding 11-Sep - NM_000546.5:c.956del NP_000537.3:p.Lys319ArgfsTer26 1158 956 319 K/X aAg/ag COSM45617 - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq T T - - 1 - 1 - - - - - - - - - 0 - - - - - - - - - 1 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 CT C 133 225 358 0.6285 NACT.19 3 138945898 C missense_variant MODERATE FOXL2 668 Transcript NM_023067.3 protein_coding 1-Jan - NM_023067.3:c.825T>G NP_075555.1:p.Asn275Lys 1243 825 275 N/K aaT/aaG - - -1 - EntrezGene HGNC:1092 YES - - rseq_mrna_match RefSeq A A - deleterious_low_confidence(0) 1 benign(0.428) 0 - - - - - - - - - 0 - - - - - - - - - - - - deleterious(0.584) - - - - - - - - - - - - - - ./. G 22.6 3.122513 0.43493 0.75391 0.996240429 ./. - - - - 1.601347 -0.282147059 0.28177 1.809672 -0.22417253 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.94072 D -3.36 3.28 1.31 0.20737 - 0.59043 0.45365 - - 0.999989978 0.51697 - 0.503968 0.07819 - 0.63947 0.58052 - 25.5397 0.00162 U 0.000001 D 1 0.98985 0.86662557 D 0.90987 0.7362 T 0.7713 -0.2214 N275K "Gain_of_ubiquitination_at_N275_(P_=_0.0029),_Gain_of_glycosylation_at_N275_(P_=_0.0135),_Gain_of_methylation_at_N275_(P_=_0.0163),_Loss_of_sheet_(P_=_0.0817),_Gain_of_solvent_accessibility_(P_=_0.0854)" P58012 0.17578 0.242 FOXL2_HUMAN L 1.75 0.4558 N275K N275K 0.51338 simple_aae D 1 0.999926 0.19093 N -0.66 0.67689 0.352 1 10 6.2685 0.2002 0.1798:0.151:0.6691:0.0 - - NM_023067.3 N275K 0.14854 0.13 - - - - 2 AEFDBCI N 0.27905 0.48178 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.59774 0.33991 1 0.71511 0.964 0.44795 1.058 0.29907 -0.078 0.11904 - - - - - 4 3 A C 53 4 59 0.0678 NACT.19 NA frameshift_variant TP53 NA c.215G>C p.Q100RfsTer22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.19 NA frameshift_variant TP53 NA c.215G>C p.Q100RfsTer22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.20 13 32339244 G stop_gained HIGH BRCA2 675 Transcript NM_000059.3 protein_coding 27-Nov - NM_000059.3:c.4889C>G NP_000050.2:p.Ser1630Ter 5116 4889 1630 S/* tCa/tGa "rs80358711,CM033343,CM129028" - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq C C OK - 1 - 1 - - - - - - - - - 8.18E-06 0 0 0 0 0 1.80E-05 0 0 "not_provided,pathogenic" - "1,1,1" "264,670,252,629,533,000,000,000,000,000,000,000,000,000,000,000" - - - - - - - - - - - - - - - C/C C 35 8.67322 0.95929 0.59136 0.993236527 C/C - - - - 2.498057 0.039119079 0.41809 4.066846 0.35332652 c 2 1.65E-05 - - - - 2 1.67E-05 - - - - 2 3.04E-05 - - 1 9.42E-06 - - - - 1 9.54E-06 - - - - 1 1.86E-05 - - 2 2.21E-05 - - - - 2 2.25E-05 - - - - 2 4.84E-05 - - - - - 5.55 4.71 0.58854 - 0.633656 0.55475 - - 0.999922306 0.46206 - 0.547309 0.1464 - 0.655142 0.61628 - 1.14199 0.06374 N 0.732624 - 1 - - - - - - - - - - - - - BRCA2_HUMAN - - - S1630* "S1630*,S1630*" 0.81033 "complex_aae,complex_aae" "A,A" 1 "1,1" - - - - - 1 - 9.6692 0.38976 0.0:0.8392:0.0:0.1608 - - - - - - "5,5,5,5" "1,3,2,1" rs80358711 "Hereditary_breast_and_ovarian_cancer_syndrome,Breast-ovarian_cancer,_familial_2,Hereditary_cancer-predisposing_syndrome,not_provided" - AEFBI D 0.29085 0.53284 2 8.18E-06 - - 15146 - - 33404 244468 - - 9764 - - 17194 - - 22266 2 1.80E-05 110900 - - 5430 - - 30364 - - - - - - - - - - - - - - - - - - - - - - - - - 0.615465 0.37169 0.015 0.18933 0.004 0.08276 1.651 0.36689 0.935 0.48983 - - - - - 5 13 C G 255 370 626 0.5911 NACT.20 NA missense_variant TP53 NA c.535C>T p.His179Tyr NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.20 16 89934896 - frameshift_variant HIGH TUBB3 10381 Transcript NM_006086.3 protein_coding 4-Apr - NM_006086.3:c.449_468del NP_006077.2:p.Leu150Ter 569-588 446-465 149-155 TLLISKV/X aCGTTGCTCATCAGCAAGGTG/a - - 1 - EntrezGene HGNC:20772 YES - - rseq_mrna_match RefSeq CGTTGCTCATCAGCAAGGTG CGTTGCTCATCAGCAAGGTG - - 1 - 1 3 - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 16 ACGTTGCTCATCAGCAAGGTG A 410 16 426 0.0376 NACT.21 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.22 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.23 13 48367512 T stop_gained HIGH RB1 5925 Transcript NM_000321.2 protein_coding 27-Oct - NM_000321.2:c.958C>T NP_000312.2:p.Arg320Ter 1124 958 320 R/* Cga/Tga "CM941205,rs121913300,COSM1152653,COSM891" - 1 - EntrezGene HGNC:9884 YES - - rseq_mrna_match RefSeq C C - - 1 - 1 - - - - - - - - - 0 - - - - - - - - pathogenic "0,1,1,1" "1,1,1,1" - - - - - - - - - - - - - - - - C/C C 44 14.140626 0.99524 0.83345 0.997403209 C/C - - - - 9.347707 0.77210937 0.87495 11.31821 0.910249402 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5.43 5.43 0.78925 - 0.708844 0.79302 - - 0.999005535 0.38125 - 0.602189 0.3414 - 0.631631 0.49192 - 0.126181 0.55863 D 0.000038 - 1 - - - - - - - - - - - - - RB_HUMAN - - - R320* R320* 0.81033 complex_aae A 1 1 - - - - - 1 - 14.5633 0.67607 0.1469:0.8531:0.0:0.0 - - - - - - - - - - 2 AEFGBI D 0.41891 0.83031 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.643511 0.43906 1 0.71511 0.964 0.44795 3.08 0.49562 0.892 0.40251 - - - - - 5 13 C T 817 42 860 0.0488 NACT.23 17 7673796 A missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.824G>T NP_000537.3:p.Cys275Phe 1026 824 275 C/F tGt/tTt "CM076568,CM951234,TP53_g.13804G>T,COSM10701,COSM10893,COSM1167915,COSM1637959,COSM165084,COSM1728541,COSM2744531,COSM318164,COSM3403255,COSM3723938,COSM44178,COSM45413,COSM5641820,COSM5641821,COSM99932" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.99) 1 - - - - - - - - - 0 - - - - - - - - - "0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.886) - - - - - - - - - - - - - - C/C C 34 7.422547 0.95074 0.63933 0.994300637 C/C - - - - 10.42345 0.809899402 0.90116 10.8771 0.893247023 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99873 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.39,.,.,.,.,.,.,.,-7.39,.,.,-7.39,-7.39,.,.,-7.39,.,.,-7.39" 4.92 4.92 0.64009 - 0.702456 0.74369 - - 0.999999988 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.97036 0.64869498 D 0.99873 0.9944 D 0.96007 0.9233 C275F "Gain_of_MoRF_binding_(P_=_0.1412),_Loss_of_disorder_(P_=_0.1519),_Gain_of_sheet_(P_=_0.1539),_Loss_of_catalytic_residue_at_R273_(P_=_0.226),_Loss_of_methylation_at_R273_(P_=_0.2615)" P04637 0.99844 0.984 P53_HUMAN M 3.295 0.90601 C275F "C275F,C275F,C275F,C275F,C275F,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.99069 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-10.16,.,.,.,.,.,.,.,-10.53,.,.,-10.16,-10.16,.,.,-10.53,.,.,-9.51" 0.99876 0.981 1 10 15.662 0.76845 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "C275F,C143F,C143F,C275F,C236F,C116F,C116F,C275F,C116F,C275F,C275F,C275F,C236F,C236F,C275F,C236F,C275F,C236F,C275F,C143F,C275F,C275F,C143F" 0.99801 "0.994,0.994,0.994,0.988,0.995,0.994,0.994,0.994,0.994,0.994,0.549,0.994,0.995,0.995,0.549,0.995,0.994,0.995,0.994,0.995,0.994,0.994,0.994" "4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs863224451 "Adenocarcinoma_of_lung,Pancreatic_adenocarcinoma,Renal_cell_carcinoma,Neoplasm_of_brain,Neoplasm_of_breast,Ovarian_Serous_Cystadenocarcinoma,Squamous_cell_carcinoma_of_the_head_and_neck,Malignant_melanoma_of_skin,Multiple_myeloma,Transitional_cell_carcinoma_of_the_bladder,Oesophageal_carcinoma,Hepatocellular_carcinoma,Colorectal_Neoplasms,Adrenocortical_carcinoma,Glioblastoma,Chronic_lymphocytic_leukemia" - AEFGBI D 0.98365 0.99654 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.997 0.65342 7.905 0.86375 0.932 0.44536 - - - - - 5 17 C A 349 982 1331 0.7378 NACT.24 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.25 12 52451595 T missense_variant MODERATE KRT6B 3854 Transcript NM_005555.3 protein_coding 9-Jan - NM_005555.3:c.484G>A NP_005546.2:p.Glu162Lys 532 484 162 E/K Gag/Aag "rs751774991,COSM4854508" - -1 - EntrezGene HGNC:6444 YES - - rseq_mrna_match RefSeq C C - deleterious(0.01) 1 possibly_damaging(0.459) 1 - - - - - - - - - 1.22E-05 0 0 0 0 0 2.69E-05 0 0 - "0,1" "0,1" - deleterious(0.556) - - - - - - - - - - - - - - ./. C 25.9 5.366685 0.72684 0.95536 0.998792286 ./. - - - - 2.148583 -0.065374416 0.36963 2.78649 0.074418189 c 1 8.24E-06 - - - - 1 8.25E-06 - - - - 1 1.50E-05 - - - - - - - - - - - - - - - - - - 1 1.10E-05 - - - - 1 1.11E-05 - - - - 1 2.38E-05 - - 0.88391 D -2.39 3.28 2.39 0.28362 - 0.563428 0.18338 - - 0.999994189 0.74713 - 0.547309 0.1464 - 0.542086 0.14228 - 0 0.62918 D 0.00001 D 1 0.8243 0.141233526 D 0.89229 0.6879 D 0.89958 0.4583 E162K "Gain_of_MoRF_binding_(P_=_0.0043),_Gain_of_ubiquitination_at_E162_(P_=_0.023),_Gain_of_catalytic_residue_at_R158_(P_=_0.0375),_Loss_of_stability_(P_=_0.1158),_Loss_of_disorder_(P_=_0.2039)" P04259 0.76619 0.63 K2C6B_HUMAN M 2.56 0.75006 E162K E162K 0.42296 simple_aae D 1 0.994465 0.56099 D -2.61 0.80728 0.535 1 10 11.1408 0.47437 0.0:0.9063:0.0:0.0937 - - NM_005555.3 E162K 0.49713 0.443 - - - - - AEFGBI D 0.35796 0.7376 3 1.22E-05 - - 15266 - - 33582 246200 - - 9848 - - 17248 - - 22300 3 2.69E-05 111690 - - 5484 - - 30782 - - - - - - - - - - - - - - - - - - - - - - - - - 0.497415 0.18538 0.995 0.38529 0.86 0.35897 2.737 0.4682 0.802 0.32437 - - - - - 5 12 C T 611 250 861 0.2904 NACT.25 17 7673796 A missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.824G>T NP_000537.3:p.Cys275Phe 1026 824 275 C/F tGt/tTt "CM076568,CM951234,TP53_g.13804G>T,COSM10701,COSM10893,COSM1167915,COSM1637959,COSM165084,COSM1728541,COSM2744531,COSM318164,COSM3403255,COSM3723938,COSM44178,COSM45413,COSM5641820,COSM5641821,COSM99932" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.99) 1 - - - - - - - - - 0 - - - - - - - - - "0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.886) - - - - - - - - - - - - - - C/C C 34 7.422547 0.95074 0.63933 0.994300637 C/C - - - - 10.42345 0.809899402 0.90116 10.8771 0.893247023 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99873 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.39,.,.,.,.,.,.,.,-7.39,.,.,-7.39,-7.39,.,.,-7.39,.,.,-7.39" 4.92 4.92 0.64009 - 0.702456 0.74369 - - 0.999999988 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.97036 0.64869498 D 0.99873 0.9944 D 0.96007 0.9233 C275F "Gain_of_MoRF_binding_(P_=_0.1412),_Loss_of_disorder_(P_=_0.1519),_Gain_of_sheet_(P_=_0.1539),_Loss_of_catalytic_residue_at_R273_(P_=_0.226),_Loss_of_methylation_at_R273_(P_=_0.2615)" P04637 0.99844 0.984 P53_HUMAN M 3.295 0.90601 C275F "C275F,C275F,C275F,C275F,C275F,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.99069 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-10.16,.,.,.,.,.,.,.,-10.53,.,.,-10.16,-10.16,.,.,-10.53,.,.,-9.51" 0.99876 0.981 1 10 15.662 0.76845 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "C275F,C143F,C143F,C275F,C236F,C116F,C116F,C275F,C116F,C275F,C275F,C275F,C236F,C236F,C275F,C236F,C275F,C236F,C275F,C143F,C275F,C275F,C143F" 0.99801 "0.994,0.994,0.994,0.988,0.995,0.994,0.994,0.994,0.994,0.994,0.549,0.994,0.995,0.995,0.549,0.995,0.994,0.995,0.994,0.995,0.994,0.994,0.994" "4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs863224451 "Adenocarcinoma_of_lung,Pancreatic_adenocarcinoma,Renal_cell_carcinoma,Neoplasm_of_brain,Neoplasm_of_breast,Ovarian_Serous_Cystadenocarcinoma,Squamous_cell_carcinoma_of_the_head_and_neck,Malignant_melanoma_of_skin,Multiple_myeloma,Transitional_cell_carcinoma_of_the_bladder,Oesophageal_carcinoma,Hepatocellular_carcinoma,Colorectal_Neoplasms,Adrenocortical_carcinoma,Glioblastoma,Chronic_lymphocytic_leukemia" - AEFGBI D 0.98365 0.99654 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.997 0.65342 7.905 0.86375 0.932 0.44536 - - - - - 5 17 C A 564 42 606 0.0693 NACT.26 17 43124027 - frameshift_variant HIGH BRCA1 672 Transcript NM_007300.3 protein_coding 24-Feb - NM_007300.3:c.68_69del NP_009231.2:p.Glu23ValfsTer17 300-301 68-69 23 E/X gAG/g "rs386833395,COSM3190162,COSM3190163" - -1 - EntrezGene HGNC:1100 YES - - "rseq_mrna_nonmatch,rseq_no_comparison" RefSeq CT CT OK - 1 - 1 - - - - - - - - - 0.0002197 0 2.98E-05 0.003757 0 0 9.88E-05 0.0001825 0.00013 "pathogenic,risk_factor" "0,1,1" "1,1,1" "25741868,24033266,22703879,26845104,20104584,23867111,26467025,21324516,22006311,22009639,23199084,26295337,15024741,15383404,16168118,19329713,7837387,23233716,11179017,23683081,21203900,8531968,8533757,7611277,17688236,7894492,22516946,8841191,9042909,15994883,17307836,18762988,20301425,21503673,22430266,22535016,21643751,9145676,12473589,7550349,8642955,8651293,8764110,9450187,9536083,9625172,9764635,9921907,10739756,11352856,11896106,12220453,16941470,18034184,18594935,19147582,19906413,20651350,20711688,22274685,22763381,23086583,23531862,23788959,23855721,23941904,24764757" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 ACT A 501 421 922 0.4566 NACT.26 17 7674220 T missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jul - NM_000546.5:c.743G>A NP_000537.3:p.Arg248Gln 945 743 248 R/Q cGg/cAg "rs11540652,CM920675,TP53_g.13380G>A,COSM10662,COSM11491,COSM1640830,COSM1646857,COSM1646858,COSM241994,COSM241995,COSM241996,COSM3356964,COSM3378346,COSM340105,COSM340106,COSM340107,COSM3726799,COSM46135,COSM6549,COSM99020,COSM99021,COSM99602" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.994) 1 - - - - - - - 0 0.0001163 2.03E-05 0 0 0 5.80E-05 0 3.58E-05 0 0 "likely_pathogenic,pathogenic" "0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "25,032,700,203,778,700,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" deleterious(0.897) - - - - - - - - - - - - - - C/C C 34 7.525108 0.95244 0.99931 0.999490924 C/C - 0 1 1.16E-04 5.764567 0.560764741 0.72167 6.591459 0.659748813 c 7 5.77E-05 - - - - 7 5.77E-05 2 2.31E-04 - - 5 7.49E-05 - - 5 4.71E-05 - - - - 5 4.71E-05 2 2.54E-04 - - 3 5.52E-05 - - 5 5.51E-05 - - - - 5 5.51E-05 2 3.55E-04 - - 3 7.12E-05 - - 0.99863 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.28,-7.28,.,.,.,.,.,.,.,-7.28,.,.,-7.28,-7.28,.,.,-7.28,.,.,-7.28,-7.28" 4.62 3.65 0.4082 - 0.702456 0.74369 - - 0.798822338 0.24124 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.97887 0.735486508 D 0.99826 0.9927 D 0.96551 0.9602 - - - - - P53_HUMAN M 2.935 0.84897 R248Q "R248Q,R248Q,R248Q,R248Q,R248Q,R248Q" 0.58814 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "A,A,A,A,A,A" 1 "0.999878,0.999994,0.999994,0.999994,0.999994,0.999994" 0.73107 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-3.75,-3.88,.,.,.,.,.,.,.,-3.92,.,.,-3.88,-3.88,.,.,-3.92,.,.,-3.71,-3.44" 0.98514 0.934 1 9 10.6687 0.44749 0.0:0.9059:0.0:0.0941 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "R248Q,R116Q,R116Q,R248Q,R248Q,R209Q,R155Q,R89Q,R89Q,R209Q,R89Q,R248Q,R248Q,R248Q,R209Q,R209Q,R248Q,R248Q,R248Q,R209Q,R248Q,R116Q,R248Q,R248Q,R116Q" 0.85958 "0.872,0.863,0.863,0.859,0.863,0.864,0.465,0.863,0.863,0.864,0.863,0.872,0.342,0.85,0.864,0.864,0.326,0.872,0.872,0.864,0.872,0.853,0.872,0.872,0.863" "5,5,5,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "0,0,1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs11540652 "Li-Fraumeni_syndrome_1,Sarcoma,Li-Fraumeni_syndrome_2,Li-Fraumeni_syndrome,not_provided,Acute_myeloid_leukemia,Neoplasm_of_breast,Small_cell_lung_cancer,Malignant_melanoma_of_skin,Ovarian_Serous_Cystadenocarcinoma,Colorectal_Neoplasms,Multiple_myeloma,Adenocarcinoma_of_prostate,Neoplasm_of_brain,Neoplasm,Medulloblastoma,Adenocarcinoma_of_stomach,Squamous_cell_carcinoma_of_the_skin,Uterine_Carcinosarcoma,Transitional_cell_carcinoma_of_the_bladder,Brainstem_glioma,Chronic_lymphocytic_leukemia,Oesophageal_carcinoma,Malignant_neoplasm_of_body_of_uterus,Myelodysplastic_syndrome,Hepatocellular_carcinoma,Pancreatic_adenocarcinoma,Squamous_cell_carcinoma_of_lung,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_lung,Glioblastoma" - AEFBHI D 0.78689 0.98009 5 2.03E-05 - - 15304 - - 33582 246248 - - 9850 1 5.80E-05 17246 - - 22296 4 3.58E-05 111704 - - 5484 - - 30782 - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.944 0.41818 6.163 0.71503 0.848 0.34754 - - - - - 5 17 C T 703 27 732 0.0369 NACT.27 19 52219818 G missense_variant MODERATE PPP2R1A 5518 Transcript NM_014225.5 protein_coding 15-Oct - NM_014225.5:c.1256T>G NP_055040.2:p.Val419Gly 1551 1256 419 V/G gTg/gGg "rs774020151,COSM4132359" - 1 - EntrezGene HGNC:9302 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 possibly_damaging(0.464) 1 - - - - - - - - - 2.55E-05 0 0 0 0 5.50E-05 3.73E-05 0 3.29E-05 - "0,1" "0,1" - deleterious(0.597) - - - - - - - - - - - - - - T/T T 24.2 4.447214 0.59534 0.83493 0.997425658 T/T - - - - 7.377658 0.679024217 0.80629 7.885182 0.750331297 c 10 8.24E-05 - - 1 9.06E-05 10 8.74E-05 1 1.20E-04 2 3.83E-04 5 7.87E-05 - - 6 5.65E-05 - - - - 6 5.96E-05 1 1.32E-04 2 3.83E-04 2 3.82E-05 - - 10 1.10E-04 - - 1 9.07E-05 10 1.17E-04 1 1.86E-04 2 5.72E-04 5 1.26E-04 - - 0.31724 "T,T" "1.48,1.48" 4.78 4.78 0.60516 - 0.702456 0.74369 - - 0.999998728 0.74713 - 0.724815 0.8784 - 0.714379 0.83238 "Armadillo-like_helical,Armadillo-type_fold" 0 0.5373 D 0.000045 D 1 0.84925 0.171417668 T 0.6461 0.2741 T 0.75075 -0.2974 - - - - - 2AAA_HUMAN H 3.71 0.94814 V419G "V339G,V419G,V364G" 0.81033 "simple_aae,simple_aae,simple_aae" "D,D,D" 1 "1,1,1" 0.92629 "D,." "-6.74,." 0.8189 0.555 1 10 12.623 0.55792 0.0:0.0:0.0:1.0 - - "ENST00000322088,ENST00000444322,NM_014225.5" "V419G,V364G,V419G" 0.99053 "0.987,0.987,0.969" - - - - - AEFDBI D 0.76721 0.97753 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.706548 0.72963 1 0.71511 0.998 0.69722 5.509 0.6651 1.061 0.80716 - - - - - 5 19 T G 523 14 537 0.0261 NACT.28 16 1776117 C missense_variant MODERATE EME2 197342 Transcript NM_001257370.1 protein_coding 8-Aug - NM_001257370.1:c.1019A>C NP_001244299.1:p.Asp340Ala 1019 1019 340 D/A gAc/gCc - - 1 - EntrezGene HGNC:27289 YES - - rseq_mrna_match RefSeq A A - deleterious(0) 1 possibly_damaging(0.856) 1 - - - - - - - - - 0 - - - - - - - - - - - - deleterious(0.775) - - - - - - - - - - - - - - A/A A 24.7 4.741437 0.63581 0.44472 0.987019872 A/A - - - - 2.251368 -0.032483013 0.38428 2.870743 0.09606921 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 3.4 3.4 0.37872 - 0.702456 0.74369 - - 0.999999959 0.74713 - 0.606735 0.36723 - 0.636168 0.56037 - 0.098445 0.41114 D 0.00092 D 1 0.66481 0.055784378 T 0.6068 0.2389 T 0.68071 -0.5165 - - - - - EME2_HUMAN M 2.555 0.74789 D340A "D340A,D405A" 0.50251 "simple_aae,simple_aae" "D,D" 1 "0.999876,0.999876" 0.88332 D -5.83 0.50655 0.211 0 9 9.6215 0.38698 1.0:0.0:0.0:0.0 - - "ENST00000307394,ENST00000564182,ENST00000561903,NM_001257370.1,ENST00000568449,CCDS58404.1" "D405A,D75A,D152A,D340A,D340A,D340A" 0.46162 "0.127,0.403,0.166,0.205,0.2,0.205" - - - - - AEFGBCI D 0.32767 0.66316 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.67177 0.52245 0.981 0.35144 0.145 0.2035 3.041 0.49248 1.088 0.86599 - - - - - 4 16 A C 257 8 265 0.0302 NACT.29 13 32337907 - frameshift_variant HIGH BRCA2 675 Transcript NM_000059.3 protein_coding 27-Nov - NM_000059.3:c.3554_3555del NP_000050.2:p.Thr1185SerfsTer2 3780-3781 3553-3554 1185 T/X ACa/a - - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq AC AC OK - 1 - 1 1 - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 13 TAC T 474 300 774 0.3876 NACT.30 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.30 missense_variant TP53 c.524G>A p.Arg175His NACT.31 13 32371000 - frameshift_variant HIGH BRCA2 675 Transcript NM_000059.3 protein_coding 20/27 - NM_000059.3:c.8537_8538del NP_000050.2:p.Glu2846GlyfsTer22 8760-8761 8533-8534 2845 R/X AGa/a rs80359714 - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq AG AG OK - 1 - 1 4 - - - - - - - - 1.22E-05 0 0 0 0 0 2.69E-05 0 0 pathogenic - 1 "257,418,682,403,326,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 13 AAG A 29 369 398 0.9271 NACT.31 13 32371002 A missense_variant MODERATE BRCA2 675 Transcript NM_000059.3 protein_coding 20/27 - NM_000059.3:c.8534G>A NP_000050.2:p.Arg2845Lys 8761 8534 2845 R/K aGa/aAa - - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq G G OK tolerated(0.06) 0 possibly_damaging(0.495) 1 - - - - - - - - - 0 - - - - - - - - - - - - deleterious(0.488) - - - - - - - - - - - - - - G/G G 29.4 6.359003 0.87814 0.47219 0.988709278 G/G - - - - 4.271303 0.387542549 0.61031 4.197618 0.375933738 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.67023 "T,T" "-0.25,-0.25" 5.1 4.25 0.49488 - 0.653731 0.59439 - - 0.999997712 0.74713 - 0.65145 0.49795 - 0.683762 0.67193 Tower_domain 0.065121 0.62918 D 0.000006 D 1 0.74663 0.085624017 T 0.66397 0.2921 T 0.70548 -0.4462 R2845K "Gain_of_ubiquitination_at_R2845_(P_=_0.0054),_Gain_of_methylation_at_R2845_(P_=_0.0162),_Gain_of_glycosylation_at_R2845_(P_=_0.0917),_Gain_of_relative_solvent_accessibility_(P_=_0.0999),_Gain_of_helix_(P_=_0.132)" P51587 0.82484 0.687 BRCA2_HUMAN M 2.67 0.78403 R2845K "R2845K,R2845K" 0.492 "simple_aae,simple_aae" "D,D" 1 "0.99979,0.99979" 0.24025 N -0.89 0.61908 0.295 0 10 13.394 0.60118 0.076:0.0:0.924:0.0 - - "ENST00000528762,NM_000059.3,CCDS9344.1,ENST00000544455,ENST00000380152" "R11K,R2845K,R2845K,R2845K,R2845K" 0.67597 "0.664,0.665,0.296,0.656,0.665" - - - - - AEFDBHCI D 0.60201 0.94211 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.6512 0.46512 1 0.71511 0.998 0.69722 5.508 0.66505 0.902 0.41569 - - - - - 3 13 G A 112 6 118 0.0508 NACT.31 7 55174771 - inframe_deletion MODERATE EGFR 1956 Transcript NM_005228.3 protein_coding 19/28 - NM_005228.3:c.2235_2249del NP_005219.2:p.Glu746_Ala750del 2481-2495 2235-2249 745-750 KELREA/K aaGGAATTAAGAGAAGCa/aaa "rs121913421,COSM6223" - 1 - EntrezGene HGNC:3236 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq GGAATTAAGAGAAGC GGAATTAAGAGAAGC - - 1 - 1 - - - - - - - - - 0 - - - - - - - - drug_response "0,1" "1,1" "151,180,731,511,812,000,000,000" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 7 AGGAATTAAGAGAAGC A 1197 98 1295 0.0757 NACT.31 NA missense_variant TP53 NA c.524G>A p.Arg175His NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.32 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.33 X 150987842 - frameshift_variant HIGH HMGB3 3149 Transcript NM_001301228.1 protein_coding 5-May - NM_001301228.1:c.536del NP_001288157.1:p.Lys179ArgfsTer36 744 532 178 K/X Aaa/aa - - 1 - EntrezGene HGNC:5004 YES - - rseq_mrna_match RefSeq A A - - 1 - 1 4 - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 X GA G 764 20 784 0.0255 NACT.33 17 7674217 - frameshift_variant HIGH TP53 7157 Transcript NM_000546.5 protein_coding 11-Jul - NM_000546.5:c.745del NP_000537.3:p.Arg249GlyfsTer96 947 745 249 R/X Agg/gg - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq T T - - 1 - 1 - - - - - - - - - 0 - - - - - - - - - "0,1,1,1,1,1,1,1,1" "0,1,1,1,1,1,1,1,1" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 CT C 420 377 797 0.473 NACT.33 17 7674218 C missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jul - NM_000546.5:c.745A>G NP_000537.3:p.Arg249Gly 947 745 249 R/G Agg/Ggg "TP53_g.13382A>G,COSM10668,COSM1646860,COSM318149,COSM318150,COSM3717635,COSM43629,COSM45403,COSM46266" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 probably_damaging(0.994) 1 - - - - - - - - - 0 - - - - - - - - - "0,1,1,1,1,1,1,1,1" "0,1,1,1,1,1,1,1,1" - deleterious(0.897) - - - - - - - - - - - - - - T/T T 24.8 4.830596 0.64844 0.69715 0.995326402 T/T - - - - 1.640637 -0.263710342 0.28788 2.29814 -0.061966916 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99866 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.31,-7.31,.,.,.,.,.,.,.,-7.31,.,.,-7.31,-7.31,.,.,-7.31,.,.,-7.31" 4.62 -0.0234 0.13206 - 0.702456 0.74369 - - 1.41E-04 0.05543 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.98244 0.776148028 D 0.99841 0.9932 D 0.97817 1.0352 R249G "Loss_of_stability_(P_=_0.0171),_Gain_of_sheet_(P_=_0.1539),_Gain_of_catalytic_residue_at_I251_(P_=_0.1827),_Gain_of_relative_solvent_accessibility_(P_=_0.284),_Gain_of_disorder_(P_=_0.345)" P04637 0.99642 0.964 P53_HUMAN M 3.31 0.90786 R249G "R249G,R249G,R249G,R249G,R249G,R249G" 0.47814 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "0.998493,0.9996,0.9996,0.9996,0.9996,0.9996" 0.93079 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-6.21,-6.67,.,.,.,.,.,.,.,-6.85,.,.,-6.67,-6.67,.,.,-6.85,.,.,-6.33" 0.96812 0.888 1 10 12.7443 0.56469 0.0:0.0:0.4175:0.5825 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "R249G,R117G,R117G,R249G,R249G,R210G,R90G,R90G,R249G,R90G,R249G,R249G,R249G,R210G,R210G,R249G,R210G,R249G,R210G,R249G,R117G,R249G,R249G,R117G" 0.97032 "0.947,0.969,0.969,0.964,0.943,0.96,0.969,0.969,0.947,0.969,0.947,0.483,0.947,0.96,0.96,0.478,0.96,0.947,0.96,0.947,0.97,0.947,0.947,0.969" "4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs587782082 "Adenocarcinoma_of_prostate,Adenocarcinoma_of_stomach,Uterine_Carcinosarcoma,Oesophageal_carcinoma,Adenocarcinoma_of_lung,Glioblastoma,Hepatocellular_carcinoma,Squamous_cell_carcinoma_of_the_head_and_neck,Squamous_cell_carcinoma_of_lung,Small_cell_lung_cancer,Malignant_neoplasm_of_body_of_uterus,Medulloblastoma,Pancreatic_adenocarcinoma,Squamous_cell_carcinoma_of_the_skin,Ovarian_Serous_Cystadenocarcinoma" 2 AEFBHI N 0.2629 0.40838 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 0.017 0.19167 0.893 0.37623 0.128 0.15518 0.055 0.1629 - - - - - 5 17 T C 400 11 411 0.0268 NACT.34 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.35 17 7674921 A stop_gained HIGH TP53 7157 Transcript NM_000546.5 protein_coding 11-Jun - NM_000546.5:c.610G>T NP_000537.3:p.Glu204Ter 812 610 204 E/* Gag/Tag "TP53_g.12679G>T,COSM10804,COSM165086,COSM165087,COSM165088,COSM165089,COSM1679501,COSM3362449,COSM437512,COSM437513,COSM437514,COSM437515,COSM43990,COSM44011,COSM45782,COSM5193542,COSM5193543" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - - 1 - 1 - - - - - - - - - 0 - - - - - - - - - "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - - - - - - - - - - - - - - - - C/C C 33 7.030554 0.9386 0.30676 0.968241027 C/C - - - - 2.055819 -0.0969064 0.35604 3.572671 0.258504524 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5.41 -0.604 0.10992 - 0.697927 0.68521 - - 0.004561665 0.10652 - 0.702456 0.68477 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0.44502 0.25904 N 0.026458 - 1 - - - - - - - - - - - - - P53_HUMAN - - - E204* "E204*,E204*,E204*,E204*,E204*,E204*" 0.81033 "complex_aae,complex_aae,complex_aae,complex_aae,complex_aae,complex_aae" "A,A,A,A,A,A" 1 "1,1,1,1,1,1" - - - - - 1 - 1.4244 0.02159 0.133:0.2829:0.3261:0.258 - - - - - - - - - - - AEFBI N 0.27909 0.48193 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 0.885 0.30844 0.556 0.28048 1.366 0.33577 0.007 0.13757 - - - - - 5 17 C A 99 674 773 0.8719 NACT.35 14 54963168 A missense_variant MODERATE WDHD1 11169 Transcript NM_007086.3 protein_coding 19/26 - NM_007086.3:c.2315C>T NP_009017.1:p.Ser772Phe 2405 2315 772 S/F tCt/tTt COSM4592536 - -1 - EntrezGene HGNC:23170 YES - - rseq_mrna_match RefSeq G G - deleterious(0) 1 probably_damaging(0.959) 1 - - - - - - - - - 0 - - - - - - - - - 1 1 - deleterious(0.847) - - - - - - - - - - - - - - ./. G 31 6.561687 0.90286 0.89623 0.99813447 ./. - - - - 10.17044 0.801577547 0.89559 9.253579 0.823307703 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.62785 "T,T" "0.35,-0.01" 5.26 5.26 0.73376 - 0.743671 0.97427 - - 0.999999985 0.74713 - 0.724815 0.8784 - 0.727631 0.95123 "Minichromosome_loss_protein_Mcl1,_middle_region,WD40/YVTN_repeat-like-containing_domain" 0 0.84324 D 0 D 1 0.74404 0.084360228 T 0.77979 0.4418 T 0.80125 -0.0994 S772F "Gain_of_helix_(P_=_0.0325),_Gain_of_methylation_at_K774_(P_=_0.0427),_Loss_of_loop_(P_=_0.0512),_Loss_of_disorder_(P_=_0.0523),_Gain_of_ubiquitination_at_K774_(P_=_0.1278)" O75717 0.71787 0.589 WDHD1_HUMAN M 2.85 0.83068 S772F "S772F,S649F,S649F,S290F" 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D" 1 "1,1,1,1" 0.74232 D "-4.02,-3.88" 0.85597 0.623 1 10 18.8498 0.92158 0.0:0.0:1.0:0.0 - - "ENST00000421192,NM_001008396.2,ENST00000359167,NM_007086.3,ENST00000420358,ENST00000360586" "S649F,S649F,S290F,S772F,S649F,S772F" 0.94141 "0.946,0.936,0.941,0.936,0.91,0.936" - - - - - AEFBI D 0.87989 0.98879 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.732398 0.92378 1 0.71511 1 0.88762 9.226 0.94347 1.048 0.71291 - - - - - 5 14 G A 324 9 334 0.0269 NACT.36 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.37 9 21974713 G missense_variant MODERATE CDKN2A 1029 Transcript NM_001195132.1 protein_coding 4-Jan - NM_001195132.1:c.115A>C NP_001182061.1:p.Asn39His 421 115 39 N/H Aac/Cac rs752731682 - -1 - EntrezGene HGNC:1787 YES - - rseq_mrna_match RefSeq T T - deleterious(0.01) 1 benign(0.068) 0 - - - - - - - - - 0 - - - - - - - - - - - - neutral(0.410) - - - - - - - - - - - - - - T/T T 23.1 3.504293 0.47889 0.55137 0.992083433 T/T - - - - 1.100112 -0.564539904 0.20089 1.47804 -0.357399394 c 3 2.48E-05 - - - - 3 2.61E-05 - - 2 3.22E-04 1 1.59E-05 - - 3 2.83E-05 - - - - 3 2.93E-05 - - 2 3.22E-04 1 1.91E-05 - - - - - - - - - - - - - - - - - - 0.72686 "T,T,T" "-0.69,-0.6,-0.69" 4.89 -3.46 0.04439 - 0.609123 0.5024 - - 1 0.74713 - 0.606814 0.37242 - 0.56751 0.31614 Ankyrin_repeat-containing_domain - - - - D 1 0.94067 0.434464496 D 0.81562 0.5093 T 0.80033 -0.1034 N39H "Loss_of_MoRF_binding_(P_=_0.1249),_Loss_of_disorder_(P_=_0.1605),_Loss_of_glycosylation_at_P38_(P_=_0.188),_Gain_of_phosphorylation_at_Y44_(P_=_0.2156),_Loss_of_catalytic_residue_at_N39_(P_=_0.2433)" P42771 0.63016 0.525 CD2A1_HUMAN M 2.9 0.84164 N39H ".,.,.,.,.,N39H,N39H,N39H,N39H" 0.39131 "without_aae,without_aae,without_aae,without_aae,without_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,N,N,N,N" 0 "0.974808,0.974808,0.974808,0.974808,0.974808,0.998342,0.998342,0.998342,0.998342" 0.73334 "D,.,D" "-3.93,.,-3.94" 0.64906 0.323 1 9 6.8851 0.23226 0.0:0.3539:0.1206:0.5255 - - "NM_000077.4,NM_058197.4,ENST00000579122,ENST00000380151,ENST00000446177,ENST00000498124,NM_001195132.1" "N39H,N39H,N39H,N39H,N39H,N39H,N39H" 0.4346 "0.189,0.179,0.199,0.369,0.374,0.206,0.189" - - - - - AEFDGBHCI D 0.38377 0.78388 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.455138 0.0876 0.993 0.37645 0.047 0.16207 0.445 0.21238 0.148 0.23572 - - - - - 3 9 T G 251 8 259 0.0309 NACT.37 9 21974721 C missense_variant MODERATE CDKN2A 1029 Transcript NM_001195132.1 protein_coding 4-Jan - NM_001195132.1:c.107C>G NP_001182061.1:p.Ala36Gly 413 107 36 A/G gCg/gGg "rs200382984,COSM3926636,COSM3926637,COSM3926638" - -1 - EntrezGene HGNC:1787 YES - - rseq_mrna_match RefSeq G G - tolerated(0.08) 0 possibly_damaging(0.75) 1 - - - - - - - - - 0.002007 0.0003774 6.12E-05 0 5.98E-05 0.01408 0.001781 0.002757 0.0002045 - "0,1,1,1" "0,1,1,1" - deleterious(0.575) - - - - - - - - - - - - - - G/G G 23.8 4.182374 0.56066 0.60964 0.993671949 G/G - - - - 1.488913 -0.337451064 0.26425 2.239133 -0.079916371 c 374 3.12E-03 2 2.66E-04 4 3.74E-04 324 3.10E-03 4 5.07E-04 239 4.70E-02 64 1.12E-03 4 2.64E-04 360 3.43E-03 2 3.02E-04 4 3.84E-04 314 3.35E-03 3 4.09E-04 239 4.70E-02 55 1.13E-03 4 2.66E-04 45 5.04E-04 2 2.66E-04 4 3.75E-04 35 4.61E-04 3 6.12E-04 4 1.19E-03 17 5.04E-04 4 2.64E-04 0.80912 "T,T,T" "-1.4,-1.45,-1.4" 4.89 -0.489 0.11398 - 0.609123 0.5024 - - 1 0.74713 - 0.606814 0.37242 - 0.56751 0.31614 Ankyrin_repeat-containing_domain - - - - - 1 - - D 0.87844 0.6509 D 0.85901 0.1992 - - - - - CD2A1_HUMAN M 3.075 0.87443 A36G ".,.,.,.,.,A36G,A36G,A36G,A36G" 0.43837 "without_aae,without_aae,without_aae,without_aae,without_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,N,N,N,N" 0 "0.997367,0.997367,0.997367,0.997367,0.997367,0.999998,0.999998,0.999998,0.999998" 0.58686 "D,.,D" "-2.76,.,-2.77" 0.78985 0.506 1 9 9.1815 0.3612 0.4104:0.0:0.5896:0.0 - - "NM_000077.4,NM_058197.4,ENST00000579122,ENST00000380151,ENST00000446177,ENST00000498124,NM_001195132.1" "A36G,A36G,A36G,A36G,A36G,A36G,A36G" 0.55361 "0.295,0.29,0.302,0.51,0.508,0.311,0.295" - - - - - AEFDGBHCI N 0.26681 0.42621 446 2.01E-03 5 3.77E-04 13250 2 6.12E-05 32686 222176 - - 9050 1 5.98E-05 16734 242 1.41E-02 17188 176 1.78E-03 98846 14 2.76E-03 5078 6 2.04E-04 29344 - - - - - - - - - - - - - - - - - - - - - - - - - 0.455138 0.0876 0.001 0.13654 0.09 0.18507 0.074 0.14413 0.154 0.24039 - - - - - 3 9 G C 218 7 227 0.0308 NACT.37 NA missense_variant TP53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.38 17 7674893 A missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jun - NM_000546.5:c.638G>T NP_000537.3:p.Arg213Leu 840 638 213 R/L cGa/cTa "CM004906,CM022474,TP53_g.12707G>T,COSM10735,COSM11860,COSM131466,COSM131467,COSM131468,COSM131469,COSM1726594,COSM1741334,COSM241997,COSM241998,COSM241999,COSM242000,COSM3378349,COSM3403265,COSM3717650,COSM3717651,COSM3717652,COSM3717653,COSM3717654,COSM3717655,COSM43650" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.986) 1 - - - - - - - - - 0 - - - - - - - - - "0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.879) - - - - - - - - - - - - - - C/C C 34 7.379439 0.94988 0.92427 0.998447206 C/C - - - - 5.677663 0.552729989 0.7162 6.98624 0.690350544 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99865 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.3,-7.3,.,.,.,.,.,.,.,-7.3,.,.,-7.3,-7.3,.,.,-7.3,.,.,-7.3,-7.3" 5.28 4.32 0.5073 - 0.697927 0.68521 - - 0.999331967 0.39123 - 0.702456 0.68477 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0.057335 0.62918 D 0.000003 D 1 0.96517 0.602237805 D 0.9986 0.9939 D 0.96381 0.949 R213L "Gain_of_sheet_(P_=_0.0827),_Loss_of_phosphorylation_at_T211_(P_=_0.0898),_Loss_of_disorder_(P_=_0.1378),_Loss_of_loop_(P_=_0.2897),_Loss_of_methylation_at_R213_(P_=_0.3814)" P04637 0.98903 0.93 P53_HUMAN M 3.265 0.90219 R213L "R213L,R213L,R213L,R213L,R213L,R213L" 0.53702 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "0.999978,0.999978,0.999978,0.999978,0.999978,0.999978" 0.91979 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-6.59,-6.38,.,.,.,.,.,.,.,-6.57,.,.,-6.38,-6.38,.,.,-6.57,.,.,-6.26,-6.56" 0.98331 0.929 1 10 11.7807 0.51099 0.0:0.9141:0.0:0.0859 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "R213L,R81L,R81L,R213L,R213L,R174L,R120L,R54L,R54L,R174L,R54L,R213L,R213L,R213L,R174L,R174L,R213L,R213L,R213L,R174L,R213L,R81L,R213L,R213L,R81L" 0.91143 "0.881,0.891,0.891,0.92,0.878,0.897,0.697,0.891,0.891,0.897,0.891,0.881,0.457,0.92,0.897,0.897,0.457,0.881,0.881,0.897,0.881,0.903,0.881,0.881,0.891" "4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs587778720 "Adrenocortical_carcinoma,Uterine_Carcinosarcoma,Malignant_melanoma_of_skin,Neoplasm_of_brain,Colorectal_Neoplasms,Hepatocellular_carcinoma,Glioblastoma,Pancreatic_adenocarcinoma,Renal_cell_carcinoma,Neoplasm_of_breast,Oesophageal_carcinoma,Transitional_cell_carcinoma_of_the_bladder,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_stomach,Squamous_cell_carcinoma_of_lung,Squamous_cell_carcinoma_of_the_skin,Adenoid_cystic_carcinoma,Adenocarcinoma_of_prostate,Adenocarcinoma_of_lung,Nasopharyngeal_Neoplasms,Ovarian_Serous_Cystadenocarcinoma,Malignant_neoplasm_of_body_of_uterus" - AEFBI D 0.95337 0.99387 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 0.954 0.33024 0.999 0.74975 7.905 0.86375 0.852 0.36166 - - - - - 5 17 C A 143 510 653 0.781 NACT.39 19 15170424 G missense_variant MODERATE NOTCH3 4854 Transcript NM_000435.2 protein_coding 27/33 - NM_000435.2:c.5021T>C NP_000426.2:p.Leu1674Pro 5097 5021 1674 L/P cTc/cCc - - -1 - EntrezGene HGNC:7883 YES - - rseq_mrna_match RefSeq A A - deleterious(0) 1 probably_damaging(0.993) 1 - - - - - - - - - 0 - - - - - - - - - - - - deleterious(0.895) - - - - - - - - - - - - - - A/A A 32 6.658416 0.91269 0.97023 0.998982611 A/A - - - - 6.661668 0.632947849 0.77259 7.64093 0.735191403 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.85184 D -1.97 3.69 3.69 0.41317 - 0.547309 0.13894 - - 0.999999986 0.74713 - 0.697927 0.64085 - 0.567892 0.33103 - - - - - D 1 0.96953 0.640907873 D 0.91532 0.7515 D 0.92331 0.633 L1674P "Gain_of_disorder_(P_=_0.0063),_Loss_of_stability_(P_=_0.0241),_Gain_of_relative_solvent_accessibility_(P_=_0.0249),_Gain_of_glycosylation_at_T1673_(P_=_0.0474),_Gain_of_catalytic_residue_at_W1675_(P_=_0.0692)" Q9UM47 0.71912 0.59 NOTC3_HUMAN M 3.495 0.92869 L1674P L1674P 0.81033 simple_aae D 1 1 0.91248 D -6.42 0.97329 0.902 1 9 11.4687 0.49314 1.0:0.0:0.0:0.0 - - NM_000435.2 L1674P 0.94972 0.953 - - - - - AEFDBHCI D 0.83166 0.98486 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.631515 0.40598 1 0.71511 0.999 0.74975 9.228 0.94359 1.013 0.64264 - - - - - 5 19 A G 520 12 532 0.0226 NACT.39 17 7673796 T missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.824G>A NP_000537.3:p.Cys275Tyr 1026 824 275 C/Y tGt/tAt "rs863224451,CM076568,CM951234,COSM10701,COSM10893,COSM1167915,COSM1637959,COSM165084,COSM1728541,COSM2744531,COSM318164,COSM3403255,COSM3723938,COSM44178,COSM45413,COSM5641820,COSM5641821,COSM99932" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.997) 1 - - - - - - - - - 0 0 0 0 0 0 0 0 0 "likely_pathogenic,pathogenic" "0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.911) - - - - - - - - - - - - - - C/C C 33 6.919906 0.93273 0.84805 0.9975955 C/C - - - - 10.4462 0.810631541 0.90166 10.90345 0.894285143 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99873 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.39,.,.,.,.,.,.,.,-7.39,.,.,-7.39,-7.39,.,.,-7.39,.,.,-7.39" 4.92 4.92 0.64009 - 0.702456 0.74369 - - 0.999999988 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.97293 0.673315251 D 0.99873 0.9944 D 0.96007 0.9233 C275Y "Gain_of_phosphorylation_at_C275_(P_=_0.0364),_Loss_of_disorder_(P_=_0.0575),_Gain_of_MoRF_binding_(P_=_0.1384),_Loss_of_catalytic_residue_at_R273_(P_=_0.2369),_Loss_of_methylation_at_R273_(P_=_0.2678)" P04637 0.99812 0.98 P53_HUMAN M 3.295 0.90601 C275Y "C275Y,C275Y,C275Y,C275Y,C275Y,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.99069 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-10.16,.,.,.,.,.,.,.,-10.53,.,.,-10.16,-10.16,.,.,-10.53,.,.,-9.51" 0.997 0.972 1 10 15.662 0.76845 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "C275Y,C143Y,C143Y,C275Y,C236Y,C116Y,C116Y,C275Y,C116Y,C275Y,C275Y,C275Y,C236Y,C236Y,C275Y,C236Y,C275Y,C236Y,C275Y,C143Y,C275Y,C275Y,C143Y" 0.99981 "0.999,0.998,0.998,0.988,0.998,0.998,0.998,0.999,0.998,0.999,0.571,0.995,0.998,0.998,0.571,0.998,0.999,0.998,0.999,0.998,0.999,0.999,0.998" "4,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs863224451 "Li-Fraumeni_syndrome,not_provided,Malignant_melanoma_of_skin,Multiple_myeloma,Neoplasm_of_brain,Pancreatic_adenocarcinoma,Hepatocellular_carcinoma,Transitional_cell_carcinoma_of_the_bladder,Squamous_cell_carcinoma_of_the_head_and_neck,Neoplasm_of_breast,Renal_cell_carcinoma,Adenocarcinoma_of_lung,Colorectal_Neoplasms,Ovarian_Serous_Cystadenocarcinoma,Chronic_lymphocytic_leukemia,Oesophageal_carcinoma,Adrenocortical_carcinoma,Glioblastoma" - AEFGBI D 0.97743 0.9959 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.997 0.65342 7.905 0.86375 0.932 0.44536 - - - - - 5 17 C T 213 575 788 0.7297 NACT.40 16 23635357 A missense_variant MODERATE PALB2 79728 Transcript NM_024675.3 protein_coding 13-Apr - NM_024675.3:c.1189A>T NP_078951.2:p.Thr397Ser 1389 1189 397 T/S Aca/Tca rs367578415 - -1 - EntrezGene HGNC:26144 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 probably_damaging(0.999) 1 - - - - - - - 0 0.0001163 1.22E-05 0 0 0 0 0 2.70E-05 0 0 uncertain_significance - 1 26283626 deleterious(0.935) - - - - - - - - - - - - - - T/T T 25.5 5.18219 0.69943 0.77445 0.996562402 T/T - 0 1 1.16E-04 7.197549 0.668246534 0.79839 7.164054 0.70320515 c 1 8.24E-06 - - - - 1 8.25E-06 - - - - 1 1.50E-05 - - 1 9.42E-06 - - - - 1 9.43E-06 - - - - 1 1.84E-05 - - 1 1.10E-05 - - - - 1 1.10E-05 - - - - 1 2.38E-05 - - 0.26736 T 1.71 5.67 5.67 0.87626 - 0.653731 0.59439 - - 0.999668988 0.41472 - 0.724815 0.8784 - 0.635551 0.5275 - 0 0.62918 D 0.000003 D 1 0.54521 0.032591793 T 0.49626 0.1609 T 0.63882 -0.6232 - - - - - PALB2_HUMAN L 1.79 0.46914 T397S T397S 0.32668 simple_aae D 1 0.618758 0.63627 D -3.11 0.6345 0.309 1 10 14.1612 0.64832 0.0:0.0:0.0:1.0 - - NM_024675.3 T397S 0.66969 0.657 - - - - - AEFBI D 0.69374 0.96526 3 1.22E-05 - - 15298 - - 33578 245680 - - 9844 - - 17242 - - 22182 3 2.70E-05 111276 - - 5478 - - 30782 1 3.23E-05 - - 8734 - - 838 30988 - - 302 - - 1622 - - 3492 1 6.66E-05 15018 - - 982 - 0.706548 0.72963 1 0.71511 0.993 0.57359 5.437 0.66071 1.06 0.76685 - - - - - 5 16 T A 517 49 570 0.085964912 NACT.40 17 7673607 - splice_region_variant HIGH TP53 7157 Transcript NM_000546.5 protein_coding 11-Sep - NM_000546.5:c.920del NP_000537.3:p.Ala307AspfsTer38 1122 920 307 A/X gCa/ga "COSM2150561,COSM2150562,COSM35846,COSM4271722" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq G G - - 1 - 1 - - - - - - - - - 0 - - - - - - - - - "1,1,1,1" "1,1,1,1" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 TG T 99 449 558 0.804659498 NACT.41 17 43124027 - frameshift_variant HIGH BRCA1 672 Transcript NM_007300.3 protein_coding 24-Feb - NM_007300.3:c.68_69del NP_009231.2:p.Glu23ValfsTer17 300-301 68-69 23 E/X gAG/g "rs386833395,COSM3190162,COSM3190163" - -1 - EntrezGene HGNC:1100 YES - - "rseq_mrna_nonmatch,rseq_no_comparison" RefSeq CT CT OK - 1 - 1 - - - - - - - - - 0.0002197 0 2.98E-05 0.003757 0 0 9.88E-05 0.0001825 0.00013 "pathogenic,risk_factor" "0,1,1" "1,1,1" "25741868,24033266,22703879,26845104,20104584,23867111,26467025,21324516,22006311,22009639,23199084,26295337,15024741,15383404,16168118,19329713,7837387,23233716,11179017,23683081,21203900,8531968,8533757,7611277,17688236,7894492,22516946,8841191,9042909,15994883,17307836,18762988,20301425,21503673,22430266,22535016,21643751,9145676,12473589,7550349,8642955,8651293,8764110,9450187,9536083,9625172,9764635,9921907,10739756,11352856,11896106,12220453,16941470,18034184,18594935,19147582,19906413,20651350,20711688,22274685,22763381,23086583,23531862,23788959,23855721,23941904,24764757" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 ACT A 269 407 676 0.6021 NACT.41 2 47800392 - frameshift_variant HIGH MSH6 2956 Transcript NM_000179.2 protein_coding 10-Apr - NM_000179.2:c.2413del NP_000170.1:p.Ile805SerfsTer5 2562 2410 804 K/X Aaa/aa COSM13392 - 1 - EntrezGene HGNC:7329 YES - - rseq_mrna_match RefSeq A A - - 1 - 1 3 - - - - - - - - 0 - - - - - - - - - 1 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 2 CA C 643 47 690 0.0681 NACT.41 3 14158616 A missense_variant MODERATE XPC 7508 Transcript NM_004628.4 protein_coding 16-Sep - NM_004628.4:c.1267C>T NP_004619.3:p.Arg423Trp 1371 1267 423 R/W Cgg/Tgg rs781191515 - -1 - EntrezGene HGNC:12816 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq G G OK deleterious(0) 1 possibly_damaging(0.72) 1 - - - - - - - - - 1.63E-05 0 0 0.000203 0 0 8.96E-06 0 3.25E-05 - - - - deleterious(0.706) - - - - - - - - - - - - - - G/G G 28.4 6.147486 0.8478 0.9512 0.998740761 G/G - - - - 2.17273 -0.057447438 0.37313 2.735051 0.060965502 c 2 1.65E-05 - - - - 2 1.66E-05 - - - - 1 1.50E-05 1 6.06E-05 2 1.89E-05 - - - - 2 1.90E-05 - - - - 1 1.84E-05 1 6.10E-05 2 2.22E-05 - - - - 2 2.22E-05 - - - - 1 2.38E-05 1 6.06E-05 0.38394 T 1.14 5.62 3.76 0.422 - 0.702456 0.74369 - - 0.999944823 0.47268 - 0.724815 0.8784 - 0.635551 0.5275 - 0.21844 0.47668 D 0.000214 D 1 0.6116 0.043524856 T 0.42616 0.1232 T 0.31535 -0.9941 R423W "Gain_of_glycosylation_at_S426_(P_=_0.0182),_Loss_of_methylation_at_R423_(P_=_0.0401),_Gain_of_sheet_(P_=_0.0827),_Loss_of_MoRF_binding_(P_=_0.1077),_Gain_of_loop_(P_=_0.2045)" Q01831 0.35804 0.356 XPC_HUMAN M 2.005 0.54728 R423W "R423W,R386W" 0.08979 "simple_aae,simple_aae" "N,N" 0 "1,1" 0.76539 D -4.31 0.23253 0.078 0 10 8.1335 0.30026 0.0709:0.0:0.5448:0.3843 - - "NM_001145769.1,NM_004628.4,ENST00000285021,ENST00000449060" "R386W,R423W,R423W,R386W" 0.3354 "0.277,0.276,0.274,0.26" - - - - 2 AEFBCI D 0.30561 0.5909 4 1.63E-05 - - 15280 - - 33580 246120 2 2.03E-04 9850 - - 17248 - - 22256 1 8.96E-06 111650 - - 5474 1 3.25E-05 30782 - - - - - - - - - - - - - - - - - - - - - - - - - 0.706548 0.72963 0.785 0.29291 0.274 0.23226 1.677 0.36962 0.953 0.55125 - - - - - 3 3 G A 217 366 583 0.6278 NACT.42 17 7673767 T missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.853G>A NP_000537.3:p.Glu285Lys 1055 853 285 E/K Gag/Aag "rs112431538,CM123560,CM995136,COSM10722,COSM137087,COSM1649344,COSM1649345,COSM254990,COSM3717625,COSM3932742,COSM44388,COSM45138,COSM45600" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.983) 1 - - - - - - - - - 0 - - - - - - - - likely_pathogenic "0,0,0,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.873) - - - - - - - - - - - - - - C/C C 34 7.145669 0.94337 0.99215 0.999288718 C/C - - - - 8.533787 0.738300075 0.85028 9.270661 0.824112604 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99816 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-6.91,.,.,.,.,.,.,.,-6.91,.,.,-6.91,-6.91,.,.,-6.91,.,.,-6.91" 4.99 4.99 0.65809 - 0.702456 0.74369 - - 0.999431471 0.3962 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.96334 0.586969364 D 0.9983 0.9928 D 0.9638 0.9489 E285K "Gain_of_MoRF_binding_(P_=_0.0056),_Gain_of_methylation_at_E285_(P_=_0.0354),_Gain_of_ubiquitination_at_E285_(P_=_0.0428),_Gain_of_solvent_accessibility_(P_=_0.0739),_Gain_of_relative_solvent_accessibility_(P_=_0.09)" P04637 0.89147 0.763 P53_HUMAN M 3.045 0.86928 E285K "E285K,E285K,E285K,E285K,E285K,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "D,D,D,D,D,D" 1 "0.999999,0.999999,0.999999,0.999999,0.999999,1" 0.68133 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-3.35,.,.,.,.,.,.,.,-3.5,.,.,-3.36,-3.35,.,.,-3.5,.,.,-3.16" 0.97625 0.91 1 10 15.807 0.78197 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "E285K,E153K,E153K,E285K,E246K,E126K,E126K,E285K,E126K,E285K,E285K,E285K,E246K,E246K,E285K,E246K,E285K,E246K,E285K,E153K,E285K,E285K,E153K" 0.81859 "0.831,0.791,0.791,0.801,0.76,0.791,0.791,0.831,0.791,0.831,0.554,0.83,0.76,0.76,0.554,0.76,0.831,0.76,0.831,0.752,0.831,0.831,0.791" 4 1 rs112431538 not_provided - AEFGBI D 0.9664 0.9949 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.993 0.57359 7.905 0.86375 0.932 0.44536 - - - - - 5 17 C T 716 59 775 0.076129032 NACT.42 17 7674230 T missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jul - NM_000546.5:c.733G>A NP_000537.3:p.Gly245Ser 935 733 245 G/S Ggc/Agc "rs28934575,CM010463,CM900210,CM920674,TP53_g.13370G>A,COSM10957,COSM11081,COSM121035,COSM121036,COSM121037,COSM1610835,COSM1610836,COSM1610837,COSM1640833,COSM1646855,COSM3356965,COSM3388190,COSM3717639,COSM3717640,COSM3726870,COSM3726871,COSM3726872,COSM3726873,COSM3726874,COSM44642,COSM562651,COSM562652,COSM562653,COSM6932" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.998) 1 - - - - - - - 0 0.0001163 0 0 0 0 0 0 0 0 0 "likely_pathogenic,pathogenic" "0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "2,503,270,025,105,660,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" deleterious(0.919) - - - - - - - - - - - - - - C/C C 35 7.706247 0.95458 0.94502 0.998672784 C/C - 0 1 1.16E-04 8.805662 0.750228246 0.859 9.103262 0.816079058 c 1 8.24E-06 - - - - 1 8.24E-06 - - - - 1 1.50E-05 - - - - - - - - - - - - - - - - - - 1 1.10E-05 - - - - 1 1.10E-05 - - - - 1 2.37E-05 - - 0.99893 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.58,-7.58,.,.,.,.,.,.,.,-7.58,.,.,-7.58,-7.58,.,.,-7.58,.,.,-7.58,-7.58" 4.62 4.62 0.56785 - 0.702456 0.74369 - - 0.999994428 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.96688 0.617004322 D 0.99867 0.9942 D 0.95707 0.9023 - - - - - P53_HUMAN M 2.62 0.76902 G245S "G245S,G245S,G245S,G245S,G245S,G245S" 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.88671 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-5.63,-5.83,.,.,.,.,.,.,.,-5.88,.,.,-5.83,-5.83,.,.,-5.88,.,.,-5.53,-5.18" 0.98973 0.947 1 10 15.3618 0.74084 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "G245S,G113S,G113S,G245S,G245S,G206S,G152S,G86S,G86S,G206S,G86S,G245S,G245S,G245S,G206S,G206S,G245S,G245S,G245S,G206S,G245S,G113S,G245S,G245S,G113S" 0.97762 "0.974,0.975,0.975,0.968,0.971,0.976,0.594,0.975,0.975,0.976,0.975,0.974,0.638,0.971,0.976,0.976,0.655,0.976,0.976,0.976,0.976,0.97,0.976,0.976,0.975" "5,5,5,4,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "0,1,0,0,2,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs28934575 "Li-Fraumeni-like_syndrome,Hereditary_cancer-predisposing_syndrome,Li-Fraumeni_syndrome_1,Adenocarcinoma,not_provided,Li-Fraumeni_syndrome,Adenocarcinoma_of_prostate,Squamous_cell_carcinoma_of_the_head_and_neck,Glioblastoma,Adenocarcinoma_of_lung,Neoplasm,Uterine_Carcinosarcoma,Squamous_cell_carcinoma_of_lung,Oesophageal_carcinoma,Neoplasm_of_brain,Adenocarcinoma_of_stomach,Transitional_cell_carcinoma_of_the_bladder,Neoplasm_of_breast,Pancreatic_adenocarcinoma,Brainstem_glioma,Hepatocellular_carcinoma,Ovarian_Serous_Cystadenocarcinoma,Colorectal_Neoplasms" - AEFBHI D 0.91057 0.99093 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.973 0.46808 7.905 0.86375 0.848 0.34754 - - - - - 5 17 C T 476 248 724 0.342541436 NACT.43 9 21971147 G missense_variant MODERATE CDKN2A 1029 Transcript NM_001195132.1 protein_coding 4-Feb - NM_001195132.1:c.212A>C NP_001182061.1:p.Asn71Thr 518 212 71 N/T aAc/aCc "rs559848002,CM112063,CM940228,CM983987,COSM13710" - -1 - EntrezGene HGNC:1787 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 probably_damaging(0.965) 1 - - - - - - - - - 0 - - - - - - - - likely_pathogenic "0,0,0,0,1" "1,1,1,1,1" - deleterious(0.851) - - - - - - - - - - - - - - ./. T 26.6 5.636391 0.76793 0.58019 0.99293817 ./. - - - - 6.513464 0.622254664 0.76489 5.841338 0.59181462 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.81829 "D,D,T,D,T,T,T,T" "-1.56,-1.56,-0.27,-1.56,-0.27,-0.27,-0.27,-0.27" 5.79 5.79 0.91721 - 0.383324 0.05458 - - 1 0.74713 - 0.608004 0.38133 - 0.600526 0.36744 Ankyrin_repeat-containing_domain - - - - D 1 0.94952 0.486764151 T 0.80172 0.4809 D 0.82795 0.0266 N71T "Gain_of_phosphorylation_at_N71_(P_=_0.0269),_Gain_of_disorder_(P_=_0.1507),_Gain_of_glycosylation_at_N71_(P_=_0.213),_Loss_of_helix_(P_=_0.3949),_Gain_of_loop_(P_=_0.4661)" P42771 0.77172 0.635 - - - - - "N71T,Q85H,N71T,N20T,Q85H,N71T,N20T,N20T,N20T,N20T,N71T,Q126H" 0.44295 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D,D,D,D,D,D,D" 1 "0.987225,0.988314,0.987225,0.997881,0.988314,0.987225,0.997881,0.997881,0.997881,0.997881,0.987225,0.988314" 0.85813 "D,.,.,D,.,.,.,." "-5.5,.,.,-5.5,.,.,.,." 0.8841 0.68 1 9 15.1076 0.71882 0.0:0.0:0.0:1.0 - - "NM_000077.4,ENST00000498124,ENST00000530628,ENST00000361570,ENST00000579755,ENST00000446177,NM_058195.3,ENST00000579122,NM_001195132.1,NM_000077.4,ENST00000498124,ENST00000530628,ENST00000361570,ENST00000579755,ENST00000446177,NM_058195.3,ENST00000579122,NM_001195132.1" "N71T,N71T,Q85H,Q126H,Q85H,N71T,Q85H,N71T,N71T,N71T,N71T,Q85H,Q126H,Q85H,N71T,Q85H,N71T,N71T" 0.62691 "0.385,0.374,0.602,0.325,0.325,0.579,0.325,0.392,0.385,0.385,0.374,0.602,0.325,0.325,0.579,0.325,0.392,0.385" - - - - - AEFDBCI D 0.81052 0.98277 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.676563 0.54975 1 0.71511 0.841 0.35084 7.41 0.79122 1.061 0.80716 - - - - - 5 9 T G 203 7 211 0.0332 NACT.43 12 132673597 T missense_variant MODERATE POLE 5426 Transcript NM_006231.3 protein_coding 13/49 - NM_006231.3:c.1337G>A NP_006222.2:p.Arg446Gln 1546 1337 446 R/Q cGg/cAg "rs151273553,COSM5031059,COSM692187,COSM692188" - -1 - EntrezGene HGNC:9177 YES - - rseq_mrna_match RefSeq C C - tolerated(0.06) 0 possibly_damaging(0.902) 1 - - - - - - - 0.0004539 0.0005814 0.0002731 0.0001308 5.96E-05 0 0 0.0001392 0.0005379 0 0 uncertain_significance "0,1,1,1" "1,1,1,1" - deleterious(0.679) - - - - - - - - - - - - 5 0.001297353 C/C C 26.4 5.548071 0.75434 0.98152 0.999123324 C/C 2 4.54E-04 5 5.81E-04 6.830212 0.6445875 0.78099 7.41776 0.720661061 c 31 2.55E-04 2 1.93E-04 - - 31 2.56E-04 - - 2 3.03E-04 27 4.06E-04 - - 25 2.35E-04 2 2.21E-04 - - 25 2.36E-04 - - 2 3.03E-04 21 3.87E-04 - - 24 2.65E-04 2 1.93E-04 - - 24 2.66E-04 - - 1 2.63E-04 21 5.02E-04 - - 0.01578 "T,T" "4.79,4.79" 5.62 5.62 0.85659 - 0.702456 0.74369 - - 1 0.74713 - 0.702456 0.68477 - 0.714379 0.83238 Ribonuclease_H-like_domain 0 0.84324 D 0 D 1 0.76202 0.093668536 T 0.69678 0.3285 T 0.72177 -0.3959 - - - - - DPOE1_HUMAN M 2.475 0.72119 R446Q "R446Q,R419Q,R457Q" 0.81033 "simple_aae,simple_aae,simple_aae" "D,D,D" 1 "1,1,1" 0.6046 D -2.88 0.7004 0.379 1 10 19.656 0.9582 0.0:1.0:0.0:0.0 2 5.39E-04 "ENST00000535934,ENST00000539006,ENST00000455752,NM_006231.2,ENST00000535270" "R64Q,R226Q,R457Q,R446Q,R419Q" 0.78673 "0.797,0.175,0.706,0.706,0.783" - - - - - AEFDBI D 0.84317 0.98589 67 2.73E-04 2 1.31E-04 15294 2 5.96E-05 33574 245304 - - 9844 - - 17236 3 1.39E-04 21554 60 5.38E-04 111544 - - 5476 - - 30782 6 1.94E-04 2 2.30E-04 8708 - - 838 30908 - - 302 - - 1620 - - 3488 4 2.67E-04 14970 - - 982 - 0.706548 0.72963 1 0.71511 0.958 0.43738 7.867 0.85376 0.892 0.40251 - - - - - 4 12 C T 309 262 571 0.4588 NACT.43 13 48453032 T stop_gained HIGH RB1 5925 Transcript NM_000321.2 protein_coding 18/27 - NM_000321.2:c.1735C>T NP_000312.2:p.Arg579Ter 1901 1735 579 R/* Cga/Tga "CM941206,rs121913305,COSM1756816,COSM892" - 1 - EntrezGene HGNC:9884 YES - - rseq_mrna_match RefSeq C C - - 1 - 1 - - - - - - - - - 0 - - - - - - - - pathogenic "0,1,1,1" "1,1,1,1" - - - - - - - - - - - - - - - - C/C C 37 11.195445 0.97293 0.78021 0.996655645 C/C - - - - 2.960921 0.152671209 0.47673 3.962614 0.334580819 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5.75 1.75 0.23592 - 0.709663 0.81062 - - 0.483959557 0.20798 - 0.653264 0.51336 - 0.631631 0.49192 - 0.175786 0.3704 N 0.002199 - 1 - - - - - - - - - - - - - RB_HUMAN - - - R579* R579* 0.81033 complex_aae A 1 1 - - - - - 1 - 10.6871 0.44855 0.3888:0.4911:0.1201:0.0 - - - - - - - - - - 2 AEFGBHCI D 0.30124 0.57447 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.706298 0.60946 0.837 0.29994 0.952 0.42838 1.316 0.33007 -0.443 0.05688 - - - - - 5 13 C T 284 507 793 0.6393 NACT.43 17 7673802 T missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.818G>A NP_000537.3:p.Arg273His 1020 818 273 R/H cGt/cAt "rs28934576,CM004342,CM010472,CM920677,TP53_g.13798G>A,COSM10660,COSM10779,COSM1640828,COSM1645335,COSM1646808,COSM165077,COSM318169,COSM3356963,COSM3675521,COSM3726798,COSM43896,COSM44440,COSM99729" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - tolerated(0.13) 0 possibly_damaging(0.643) 1 - "0.0002,0.0002009" 0 0 0 0.001 0 - - 1.63E-05 0 0 0.0001016 0 0 2.69E-05 0 0 "likely_pathogenic,pathogenic" "0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1" "2,510,566,026,900,290,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" deleterious(0.478) 1 2.00E-04 - 0 - 0 - 0 1 9.94E-04 - 0 - - C/C C 27.3 5.846196 0.80074 0.91645 0.998364637 C/C - - - - 3.914811 0.33300078 0.57783 4.238356 0.382783734 c 3 2.47E-05 - - - - 3 2.63E-05 - - - - 3 4.75E-05 - - 3 2.83E-05 - - - - 3 3.02E-05 - - - - 3 5.85E-05 - - 3 3.31E-05 - - - - 3 3.49E-05 - - - - 3 7.45E-05 - - 0.99867 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.32,.,.,.,.,.,.,.,-7.32,.,.,-7.32,-7.32,.,.,-7.32,.,.,-7.32" 4.92 4.92 0.64009 - 0.702456 0.74369 - - 0.999999988 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.95405 0.51685817 D 0.99807 0.9921 D 0.96239 0.9393 - - - - - P53_HUMAN M 2.08 0.57591 R273H "R273H,R273H,R273H,R273H,R273H,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "A,A,A,A,A,A" 1 "1,1,1,1,1,1" 0.80473 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-4.61,.,.,.,.,.,.,.,-4.78,.,.,-4.61,-4.61,.,.,-4.78,.,.,-4.31" 0.96083 0.868 1 9 15.662 0.76845 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "R273H,R141H,R141H,R273H,R234H,R114H,R114H,R273H,R114H,R273H,R273H,R273H,R234H,R234H,R273H,R234H,R273H,R234H,R273H,R141H,R273H,R273H,R141H" 0.97032 "0.97,0.965,0.965,0.947,0.963,0.965,0.965,0.97,0.965,0.97,0.473,0.966,0.963,0.963,0.473,0.963,0.97,0.963,0.97,0.937,0.97,0.97,0.965" "5,5,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,5" "0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" rs28934576 "Li-Fraumeni_syndrome_1,Thyroid_cancer,_anaplastic,Hereditary_cancer-predisposing_syndrome,not_provided,Squamous_cell_carcinoma_of_lung,Adenocarcinoma_of_stomach,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_prostate,Uterine_Carcinosarcoma,Chronic_lymphocytic_leukemia,Neoplasm_of_brain,Adrenocortical_carcinoma,Multiple_myeloma,Ovarian_Serous_Cystadenocarcinoma,Transitional_cell_carcinoma_of_the_bladder,Malignant_neoplasm_of_body_of_uterus,Adenocarcinoma_of_lung,Malignant_melanoma_of_skin,Brainstem_glioma,Oesophageal_carcinoma,Glioblastoma,Small_cell_lung_cancer,Pancreatic_adenocarcinoma,Medulloblastoma,Acute_myeloid_leukemia,Neoplasm,Neoplasm_of_breast,Hepatocellular_carcinoma,Colorectal_Neoplasms,Li-Fraumeni_syndrome" - AEFGBI D 0.97021 0.99523 4 1.63E-05 - - 15280 - - 33540 245868 1 1.02E-04 9842 - - 17234 - - 22272 3 2.69E-05 111470 - - 5476 - - 30754 - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.792 0.33361 7.905 0.86375 0.932 0.44536 - - - - - 4 17 C T 376 24 400 0.06 NACT.43 17 7674950 C missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jun - NM_000546.5:c.581T>G NP_000537.3:p.Leu194Arg 783 581 194 L/R cTt/cGt "TP53_g.12650T>G,rs1057519998,COSM117647,COSM117648,COSM117649,COSM117650,COSM1649391,COSM3403268,COSM3675531,COSM3675532,COSM43623,COSM437525,COSM437526,COSM437527,COSM437528,COSM43827,COSM44571,COSM45205" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq A A - deleterious(0) 1 probably_damaging(1) 1 - - - - - - - - - 4.06E-06 0 0 0.0001015 0 0 0 0 0 likely_pathogenic "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" - deleterious(0.945) - - - - - - - - - - - - - - A/A A 25.2 5.028194 0.67685 0.80291 0.99698423 A/A - - - - 5.457777 0.531398939 0.70175 6.845495 0.679792664 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.99855 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.21,-7.21,.,.,.,.,.,.,.,-7.21,.,.,-7.21,-7.21,.,.,-7.21,.,.,-7.21,-7.21" 5.41 5.41 0.78229 - 0.697927 0.68521 - - 0.999996726 0.74713 - 0.702456 0.68477 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.95784 0.543994925 D 0.99857 0.9938 D 0.96071 0.9277 L194R "Gain_of_disorder_(P_=_0.0128),_Gain_of_sheet_(P_=_0.0827),_Loss_of_stability_(P_=_0.2007),_Loss_of_loop_(P_=_0.2237),_Gain_of_methylation_at_L194_(P_=_0.2968)" P04637 0.98872 0.929 P53_HUMAN M 3.185 0.89121 L194R "L194R,L194R,L194R,L194R,L194R,L194R" 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.8773 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-5.75,-5.53,.,.,.,.,.,.,.,-5.73,.,.,-5.53,-5.53,.,.,-5.73,.,.,-5.45,-5.57" 0.98478 0.933 1 10 13.709 0.61975 1.0:0.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "L194R,L62R,L62R,L194R,L194R,L155R,L101R,L35R,L35R,L155R,L35R,L194R,L194R,L194R,L155R,L155R,L194R,L194R,L194R,L155R,L194R,L62R,L194R,L194R,L62R" 0.98714 "0.973,0.978,0.978,0.983,0.972,0.977,0.813,0.978,0.978,0.977,0.978,0.973,0.565,0.982,0.977,0.977,0.565,0.973,0.973,0.977,0.973,0.984,0.973,0.973,0.978" "4,4,4,4,4,4,4,4,4,4,4" "0,0,0,0,0,0,0,0,0,0,0" rs1057519998 "Uterine_cervical_neoplasms,Neoplasm_of_brain,Ovarian_Serous_Cystadenocarcinoma,Squamous_cell_carcinoma_of_the_head_and_neck,Hepatocellular_carcinoma,Colorectal_Neoplasms,Neoplasm_of_breast,Adenocarcinoma_of_lung,Glioblastoma,Transitional_cell_carcinoma_of_the_bladder,Pancreatic_adenocarcinoma" - AEFBI D 0.98074 0.99623 1 4.06E-06 - - 15304 - - 33582 246266 1 1.02E-04 9850 - - 17248 - - 22300 - - 111714 - - 5486 - - 30782 - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.998 0.69722 9.325 0.95975 1.088 0.86599 - - - - - 5 17 A C 202 164 368 0.4457 NACT.44 17 7674872 C missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jun - NM_000546.5:c.659A>G NP_000537.3:p.Tyr220Cys 861 659 220 Y/C tAt/tGt "rs121912666,CM015378,CM951227,TP53_g.12728A>G,COSM10758,COSM1644277,COSM251426,COSM251427,COSM251428,COSM3355993,COSM3675522,COSM3675523,COSM43850,COSM99718,COSM99719,COSM99720" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq T T - deleterious(0) 1 probably_damaging(0.998) 1 - - - - - - - - - 8.12E-06 0 0 0 0 0 1.79E-05 0 0 "likely_pathogenic,pathogenic" "0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1" "159,771,742,540,450,000,000,000" deleterious(0.919) - - - - - - - - - - - - - - T/T T 28.9 6.253491 0.86341 0.88634 0.998030567 T/T - - - - 7.134308 0.664333451 0.79551 7.885704 0.75036264 c 3 2.47E-05 - - - - 3 2.50E-05 - - - - 3 4.54E-05 - - 2 1.88E-05 - - - - 2 1.91E-05 - - - - 2 3.72E-05 - - 2 2.20E-05 - - - - 2 2.23E-05 - - - - 2 4.78E-05 - - 0.99839 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.08,-7.08,.,.,.,.,.,.,.,-7.08,.,.,-7.08,-7.08,.,.,-7.08,.,.,-7.08,-7.08" 5.28 5.28 0.74018 - 0.697927 0.68521 - - 0.999994593 0.74713 - 0.743671 0.96052 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.98004 0.748598574 D 0.99807 0.9921 D 0.9646 0.9542 Y220C "Gain_of_catalytic_residue_at_P219_(P_=_0.0188),_Loss_of_phosphorylation_at_Y220_(P_=_0.0641),_Loss_of_sheet_(P_=_0.1501),_Loss_of_disorder_(P_=_0.1712),_Loss_of_glycosylation_at_P222_(P_=_0.2467)" P04637 0.99132 0.938 P53_HUMAN M 3.165 0.8883 Y220C "Y220C,Y220C,Y220C,Y220C,Y220C,Y220C" 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.97439 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-8.44,-8.36,.,.,.,.,.,.,.,-8.59,.,.,-8.36,-8.36,.,.,-8.59,.,.,-8.07,-8.28" 0.98586 0.936 1 10 13.4753 0.60593 0.0:0.0:0.0:1.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "Y220C,Y88C,Y88C,Y220C,Y220C,Y181C,Y127C,Y61C,Y61C,Y181C,Y61C,Y220C,Y220C,Y220C,Y181C,Y181C,Y220C,Y220C,Y220C,Y181C,Y220C,Y88C,Y220C,Y220C,Y88C" 0.93907 "0.943,0.941,0.941,0.944,0.941,0.943,0.46,0.941,0.941,0.943,0.941,0.943,0.494,0.942,0.943,0.943,0.494,0.943,0.943,0.943,0.943,0.941,0.943,0.943,0.941" "5,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs121912666 "Hereditary_cancer-predisposing_syndrome,not_provided,Li-Fraumeni_syndrome,Glioblastoma,Ovarian_Serous_Cystadenocarcinoma,Renal_cell_carcinoma,Malignant_neoplasm_of_body_of_uterus,Neoplasm_of_breast,Squamous_cell_carcinoma_of_lung,Malignant_melanoma_of_skin,Transitional_cell_carcinoma_of_the_bladder,Papillary_renal_cell_carcinoma,_sporadic,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_stomach,Adenocarcinoma_of_prostate,Neoplasm_of_brain,Uterine_Carcinosarcoma,Hepatocellular_carcinoma,Acute_myeloid_leukemia,Pancreatic_adenocarcinoma,Adenocarcinoma_of_lung,Colorectal_Neoplasms,Small_cell_lung_cancer" - AEFDBI D 0.91846 0.99146 2 8.12E-06 - - 15298 - - 33580 246198 - - 9850 - - 17246 - - 22294 2 1.79E-05 111672 - - 5486 - - 30772 - - - - - - - - - - - - - - - - - - - - - - - - - 0.732398 0.92378 1 0.71511 0.999 0.74975 6.252 0.72206 0.964 0.58031 - - - - - 5 17 T C 115 550 665 0.8271 NACT.45 NA splice_region_variant TP53 NA c.376-2A>G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.46 17 7673802 T missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.818G>A NP_000537.3:p.Arg273His 1020 818 273 R/H cGt/cAt "rs28934576,CM004342,CM010472,CM920677,TP53_g.13798G>A,COSM10660,COSM10779,COSM1640828,COSM1645335,COSM1646808,COSM165077,COSM318169,COSM3356963,COSM3675521,COSM3726798,COSM43896,COSM44440,COSM99729" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - tolerated(0.13) 0 possibly_damaging(0.643) 1 - "0.0002,0.0002009" 0 0 0 0.001 0 - - 1.63E-05 0 0 0.0001016 0 0 2.69E-05 0 0 "likely_pathogenic,pathogenic" "0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1" "2,510,566,026,900,290,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" deleterious(0.478) 1 2.00E-04 - 0 - 0 - 0 1 9.94E-04 - 0 - - C/C C 27.3 5.846196 0.80074 0.91645 0.998364637 C/C - - - - 3.914811 0.33300078 0.57783 4.238356 0.382783734 c 3 2.47E-05 - - - - 3 2.63E-05 - - - - 3 4.75E-05 - - 3 2.83E-05 - - - - 3 3.02E-05 - - - - 3 5.85E-05 - - 3 3.31E-05 - - - - 3 3.49E-05 - - - - 3 7.45E-05 - - 0.99867 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.32,.,.,.,.,.,.,.,-7.32,.,.,-7.32,-7.32,.,.,-7.32,.,.,-7.32" 4.92 4.92 0.64009 - 0.702456 0.74369 - - 0.999999988 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.95405 0.51685817 D 0.99807 0.9921 D 0.96239 0.9393 - - - - - P53_HUMAN M 2.08 0.57591 R273H "R273H,R273H,R273H,R273H,R273H,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "A,A,A,A,A,A" 1 "1,1,1,1,1,1" 0.80473 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-4.61,.,.,.,.,.,.,.,-4.78,.,.,-4.61,-4.61,.,.,-4.78,.,.,-4.31" 0.96083 0.868 1 9 15.662 0.76845 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "R273H,R141H,R141H,R273H,R234H,R114H,R114H,R273H,R114H,R273H,R273H,R273H,R234H,R234H,R273H,R234H,R273H,R234H,R273H,R141H,R273H,R273H,R141H" 0.97032 "0.97,0.965,0.965,0.947,0.963,0.965,0.965,0.97,0.965,0.97,0.473,0.966,0.963,0.963,0.473,0.963,0.97,0.963,0.97,0.937,0.97,0.97,0.965" "5,5,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,5" "0,0,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,1" rs28934576 "Li-Fraumeni_syndrome_1,Thyroid_cancer,_anaplastic,Hereditary_cancer-predisposing_syndrome,not_provided,Squamous_cell_carcinoma_of_lung,Adenocarcinoma_of_stomach,Squamous_cell_carcinoma_of_the_head_and_neck,Adenocarcinoma_of_prostate,Uterine_Carcinosarcoma,Chronic_lymphocytic_leukemia,Neoplasm_of_brain,Adrenocortical_carcinoma,Multiple_myeloma,Ovarian_Serous_Cystadenocarcinoma,Transitional_cell_carcinoma_of_the_bladder,Malignant_neoplasm_of_body_of_uterus,Adenocarcinoma_of_lung,Malignant_melanoma_of_skin,Brainstem_glioma,Oesophageal_carcinoma,Glioblastoma,Small_cell_lung_cancer,Pancreatic_adenocarcinoma,Medulloblastoma,Acute_myeloid_leukemia,Neoplasm,Neoplasm_of_breast,Hepatocellular_carcinoma,Colorectal_Neoplasms,Li-Fraumeni_syndrome" - AEFGBI D 0.97021 0.99523 4 1.63E-05 - - 15280 - - 33540 245868 1 1.02E-04 9842 - - 17234 - - 22272 3 2.69E-05 111470 - - 5476 - - 30754 - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.792 0.33361 7.905 0.86375 0.932 0.44536 - - - - - 4 17 C T 265 299 564 0.530141844 NACT.47 13 32379885 A frameshift_variant HIGH BRCA2 675 Transcript NM_000059.3 protein_coding 23/27 - NM_000059.3:c.9097dup NP_000050.2:p.Thr3033AsnfsTer11 9316-9317 9089-9090 3030 T/TX aca/acAa - - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq - - OK - 1 - 1 8 - - - - - - - - 0 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 13 C CA 800 16 816 0.0196 NACT.47 NA missense_variant TP53 NA c.395A>G p.Lys132Arg NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.48 17 7674221 A missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Jul - NM_000546.5:c.742C>T NP_000537.3:p.Arg248Trp 944 742 248 R/W Cgg/Tgg "rs121912651,CM010465,CM900211,COSM10656,COSM11564,COSM1189381,COSM1189382,COSM1189383,COSM120005,COSM120006,COSM120007,COSM1640831,COSM2744594,COSM3388183,COSM4271789,COSM44920,COSM45116" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq G G - deleterious(0) 1 probably_damaging(1) 1 - - - - - - - - - 4.06E-06 0 0 0 0 0 8.95E-06 0 0 "likely_pathogenic,pathogenic" "0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1" "2,403,326,617,606,700,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" deleterious(0.945) - - - - - - - - - - - - - - G/G G 34 7.204272 0.94534 0.97556 0.999052324 G/G - - - - 4.16117 0.371297221 0.60053 5.08357 0.5061423 c 1 8.24E-06 - - - - 1 8.24E-06 - - - - 1 1.50E-05 - - - - - - - - - - - - - - - - - - 1 1.10E-05 - - - - 1 1.10E-05 - - - - 1 2.37E-05 - - 0.99869 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.34,-7.34,.,.,.,.,.,.,.,-7.34,.,.,-7.34,-7.34,.,.,-7.34,.,.,-7.34,-7.34" 4.62 2.56 0.29708 - 0.702456 0.74369 - - 4.90E-04 0.07167 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.98598 0.818748108 D 0.9983 0.9928 D 0.96973 0.9869 R248W "Loss_of_disorder_(P_=_0.0612),_Loss_of_stability_(P_=_0.1453),_Loss_of_catalytic_residue_at_R248_(P_=_0.1486),_Loss_of_sheet_(P_=_0.3635),_Loss_of_loop_(P_=_0.4412)" P04637 0.9986 0.986 P53_HUMAN M 3.28 0.90407 R248W "R248W,R248W,R248W,R248W,R248W,R248W" 0.58814 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,simple_aae" "A,A,A,A,A,A" 1 "0.999933,0.999997,0.999997,0.999997,0.999997,0.999997" 0.95992 "D,D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D,D" "-7.5,-7.76,.,.,.,.,.,.,.,-7.83,.,.,-7.76,-7.76,.,.,-7.83,.,.,-7.42,-7.01" 0.98258 0.927 1 9 7.568 0.26891 0.0893:0.0:0.7471:0.1636 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,ENST00000445888,NM_001126118.1,ENST00000514944,NM_001276697.1,NM_001276699.1,NM_001276696.1,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000413465,NM_001276761.1,NM_001276760.1,CCDS45605.1,ENST00000269305,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "R248W,R116W,R116W,R248W,R248W,R209W,R155W,R89W,R89W,R209W,R89W,R248W,R248W,R248W,R209W,R209W,R248W,R248W,R248W,R209W,R248W,R116W,R248W,R248W,R116W" 0.94735 "0.951,0.944,0.944,0.946,0.949,0.942,0.617,0.944,0.944,0.942,0.944,0.951,0.512,0.94,0.942,0.942,0.492,0.951,0.951,0.942,0.951,0.947,0.951,0.951,0.944" "5,5,5,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "1,1,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs121912651 "Li-Fraumeni_syndrome_1,Hereditary_cancer-predisposing_syndrome,not_provided,Acute_myeloid_leukemia,Adenocarcinoma_of_lung,Glioblastoma,Small_cell_lung_cancer,Squamous_cell_carcinoma_of_the_head_and_neck,Chronic_lymphocytic_leukemia,Brainstem_glioma,Ovarian_Serous_Cystadenocarcinoma,Myelodysplastic_syndrome,Adenocarcinoma_of_prostate,Neoplasm_of_breast,Oesophageal_carcinoma,Adenocarcinoma_of_stomach,Multiple_myeloma,Uterine_Carcinosarcoma,Neoplasm_of_brain,Squamous_cell_carcinoma_of_lung,Hepatocellular_carcinoma,Transitional_cell_carcinoma_of_the_bladder,Neoplasm,Colorectal_Neoplasms,Medulloblastoma,Malignant_neoplasm_of_body_of_uterus,Squamous_cell_carcinoma_of_the_skin,Malignant_melanoma_of_skin,Pancreatic_adenocarcinoma" 2 AEFBHI D 0.5952 0.93987 1 4.06E-06 - - 15304 - - 33582 246254 - - 9850 - - 17248 - - 22300 1 8.95E-06 111704 - - 5484 - - 30782 - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.967 0.45397 0.835 0.26993 0.949 0.5364 - - - - - 5 17 G A 39 196 235 0.834 NACT.49 7 140753336 T missense_variant MODERATE BRAF 673 Transcript NM_004333.4 protein_coding 15/18 - NM_004333.4:c.1799T>A NP_004324.2:p.Val600Glu 1860 1799 600 V/E gTg/gAg "CM112509,rs113488022,COSM18443,COSM476,COSM6137" - -1 - EntrezGene HGNC:1097 YES - - rseq_mrna_match RefSeq A A - deleterious(0) 1 probably_damaging(0.963) 1 - - - - - - - - - 0 - - - - - - - - "likely_pathogenic,pathogenic" "0,1,1,1,1" "1,1,1,1,1" "2,375,720,212,960,120,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" deleterious(0.850) - - - - - - - - - - - - - - ./. A 32 6.641785 0.91111 0.41573 0.984868555 ./. - - - - 5.634784 0.548689949 0.71343 4.637965 0.445381171 c 2 1.65E-05 - - 1 8.72E-05 2 1.65E-05 - - - - - - 1 6.06E-05 2 1.88E-05 - - 1 9.00E-05 2 1.89E-05 - - - - - - 1 6.10E-05 2 2.20E-05 - - 1 8.72E-05 2 2.21E-05 - - - - - - 1 6.06E-05 0.81573 D -1.53 5.65 5.65 0.8683 - 0.708844 0.79302 - - 0.999999995 0.74713 - 0.602189 0.3414 - 0.6691 0.65684 "Protein_kinase_domain,Protein_kinase-like_domain,Serine-threonine/tyrosine-protein_kinase,_catalytic_domain" 0 0.84324 D 0 D 1 0.8494 0.171638852 T 0.60296 0.2357 T 0.56968 -0.7685 V600E "Gain_of_disorder_(P_=_0.0057),_Gain_of_ubiquitination_at_K601_(P_=_0.0467),_Loss_of_MoRF_binding_(P_=_0.1014),_Gain_of_phosphorylation_at_S605_(P_=_0.1213),_Loss_of_catalytic_residue_at_K601_(P_=_0.1736)" P15056 0.8489 0.713 BRAF_HUMAN N 0.65 0.16172 V600E V600E 0.81033 simple_aae D 1 1 0.80473 D -4.78 0.98405 0.931 1 10 15.9326 0.7937 1.0:0.0:0.0:0.0 - - "ENST00000479537,NM_004333.4,ENST00000496384" "V28E,V600E,V207E" 0.96665 "0.962,0.967,0.595" "5,5,5,5,5,5,5,5,4,4,4,4,4,4,4,5,5,4,5,4,4,5" "0,0,0,0,0,0,1,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs113488022 "Carcinoma_of_colon,Papillary_thyroid_carcinoma,Astrocytoma,_low-grade,_somatic,Germ_cell_tumor,_nonseminomatous,Non-small_cell_lung_cancer,Malignant_melanoma,not_provided,Cardio-facio-cutaneous_syndrome,Malignant_melanoma_of_skin,Colonic_Neoplasms,Squamous_cell_carcinoma_of_the_head_and_neck,Brainstem_glioma,Glioblastoma,Adenocarcinoma_of_lung,Multiple_myeloma,Ovarian_Neoplasms,Lung_cancer,Neoplasm_of_brain,Gastrointestinal_stromal_tumor,Papillary_renal_cell_carcinoma,_sporadic,Neoplasm,Colorectal_Neoplasms" - AEFI D 0.83782 0.98542 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.6512 0.46512 1 0.71511 1 0.88762 9.236 0.9443 1.193 0.91126 - - - - - 5 7 A T 724 560 1300 0.430769231 NACT.50 20 57228244 A missense_variant MODERATE BMP7 655 Transcript NM_001719.2 protein_coding 7-Feb - NM_001719.2:c.596A>T NP_001710.1:p.Gln199Leu 1125 596 199 Q/L cAg/cTg - - -1 - EntrezGene HGNC:1074 YES - - rseq_mrna_match RefSeq T T - deleterious(0.02) 1 benign(0.026) 0 - - - - - - - - - 0 - - - - - - - - - - - - neutral(0.384) - - - - - - - - - - - - - - T/T T 28.5 6.15239 0.84851 0.50448 0.990330075 T/T - - - - 3.250142 0.213532455 0.50971 2.880825 0.098631575 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.66664 "T,T,T" "-0.23,-0.23,-0.23" 5.63 4.53 0.54846 - 0.59043 0.45365 - - 0.941549628 0.27443 - 0.693144 0.62892 - 0.564101 0.26208 "TGF-beta,_propeptide" 0.049859 0.84324 D 0 D 1 0.706 0.068595876 T 0.67339 0.3021 T 0.64761 -0.602 Q199L "Loss_of_disorder_(P_=_0.0789),_Loss_of_loop_(P_=_0.0986),_Gain_of_methylation_at_R204_(P_=_0.1046),_Gain_of_sheet_(P_=_0.1945),_Gain_of_catalytic_residue_at_Q196_(P_=_0.33)" P18075 0.58418 0.495 BMP7_HUMAN M 2.335 0.6717 Q199L "Q199L,Q199L,Q199L" 0.51338 "simple_aae,simple_aae,simple_aae" "D,D,D" 1 "0.999923,0.999565,0.999923" 0.73851 D "-3.99,-3.0,-3.86" 0.62908 0.304 1 10 11.4015 0.48926 0.0:0.0704:0.0:0.9296 - - "ENST00000450594,ENST00000395863,ENST00000433911,ENST00000395864,NM_001719.2" "Q199L,Q199L,Q84L,Q199L,Q199L" 0.65333 "0.636,0.608,0.506,0.624,0.608" - - - - - AEFDGBCI D 0.55216 0.9234 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.648238 0.45512 1 0.71511 0.999 0.74975 4.507 0.59915 0.964 0.58031 - - - - - 4 20 T A 29 4 33 0.121212121 NACT.51 NA missense_variant TP53 NA c.469G>T p.V157F NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NACT.52 17 43057062 G frameshift_variant HIGH BRCA1 672 Transcript NM_007300.3 protein_coding 20/24 - NM_007300.3:c.5329dup NP_009231.2:p.Gln1777ProfsTer74 5561-5562 5329-5330 1777 Q/PX cag/cCag rs397507247 - -1 - EntrezGene HGNC:1100 YES - - "rseq_mrna_nonmatch,rseq_no_comparison" RefSeq - - OK - 1 - 1 - - - - - - - - - 0.0001584 0 2.98E-05 0.002335 0 0 0.0001253 0.0001823 0 "pathogenic,risk_factor" - - "25741868,24033266,27067391,11389159,26467025,18694767,21324516,22006311,23199084,26295337,10699917,10788334,15024741,20345474,20569256,15133502,19208665,8531967,7894492,20507347,22032251,8841191,9042909,9150173,10447273,11170903,15353005,15951956,15994883,16541315,17307836,18762988,18940477,20301425,21119707,21503673,22185575,22430266,23232912" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 17 T TG 343 264 607 0.4349 NACT.53 13 32326560 T missense_variant MODERATE BRCA2 675 Transcript NM_000059.3 protein_coding 27-Jul - NM_000059.3:c.578C>T NP_000050.2:p.Ser193Phe 805 578 193 S/F tCt/tTt rs864622305 - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq C C OK deleterious(0) 1 probably_damaging(1) 1 - - - - - - - - - 0 - - - - - - - - uncertain_significance - 1 - deleterious(0.945) - - - - - - - - - - - - - - C/C C 31 6.504429 0.89643 0.89979 0.998174974 C/C - - - - 7.513799 0.686892342 0.81218 6.897994 0.683760342 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.03603 "T,T" "3.88,3.88" 5.45 5.45 0.79612 - 0.653731 0.59439 - - 0.999999942 0.74713 - 0.65145 0.49795 - 0.683762 0.67193 - 0 0.62918 D 0.000009 D 1 0.98986 0.866818582 T 0.19071 0.0444 T 0.00075 -1.2133 S193F "Loss_of_disorder_(P_=_0.0037),_Gain_of_catalytic_residue_at_S193_(P_=_0.0097),_Loss_of_phosphorylation_at_S193_(P_=_0.0304),_Loss_of_glycosylation_at_S197_(P_=_0.0433),_Loss_of_loop_(P_=_0.1242)" P51587 0.23865 0.282 BRCA2_HUMAN M 2.32 0.66628 S193F "S193F,S193F" 0.44832 "simple_aae,simple_aae" "D,D" 1 "0.998365,0.998365" 0.36763 N -1.51 0.50028 0.207 0 10 19.2691 0.93962 0.0:1.0:0.0:0.0 - - "NM_000059.3,CCDS9344.1,ENST00000544455,ENST00000380152,ENST00000530893" "S193F,S193F,S193F,S193F,S191F" 0.73421 "0.737,0.254,0.728,0.737,0.709" - - - - - AEFBI D 0.67029 0.96037 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.6512 0.46512 1 0.71511 1 0.88762 5.304 0.65312 0.848 0.34754 - - - - - 4 13 C T 299 196 495 0.395959596 NACT.54 17 7673802 A missense_variant MODERATE TP53 7157 Transcript NM_000546.5 protein_coding 11-Aug - NM_000546.5:c.818G>T NP_000537.3:p.Arg273Leu 1020 818 273 R/L cGt/cTt "rs28934576,CM004342,CM010472,CM920677,TP53_g.13798G>T,COSM10660,COSM10779,COSM1640828,COSM1645335,COSM1646808,COSM165077,COSM318169,COSM3356963,COSM3675521,COSM3726798,COSM43896,COSM44440,COSM99729" - -1 - EntrezGene HGNC:11998 YES - - rseq_mrna_match RefSeq C C - deleterious(0) 1 probably_damaging(0.994) 1 - - - - - - - - - 4.07E-06 0 0 0 0 0 8.97E-06 0 0 "likely_pathogenic,pathogenic" "0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1" "1,1,1,1,0,1,1,1,1,1,1,1,1,1,1,1,1,1" "2,510,566,026,900,290,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" deleterious(0.897) - - - - - - - - - - - - - - C/C C 34 7.449206 0.95122 0.91991 0.998404289 C/C - - - - 5.513007 0.536890503 0.70549 6.832809 0.678823991 c 1 8.24E-06 - - - - 1 8.76E-06 - - - - 1 1.58E-05 - - - - - - - - - - - - - - - - - - 1 1.10E-05 - - - - 1 1.17E-05 - - - - 1 2.49E-05 - - 0.99865 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-7.3,.,.,.,.,.,.,.,-7.3,.,.,-7.3,-7.3,.,.,-7.3,.,.,-7.3" 4.92 4.92 0.64009 - 0.702456 0.74369 - - 0.999999988 0.74713 - 0.724815 0.8784 - 0.735409 0.9842 "p53,_DNA-binding_domain,p53-like_transcription_factor,_DNA-binding,p53/RUNT-type_transcription_factor,_DNA-binding_domain" 0 0.84324 D 0 D 1 0.97114 0.656053319 D 0.9986 0.9939 D 0.96073 0.9279 R273L "Loss_of_disorder_(P_=_0.0542),_Loss_of_methylation_at_R273_(P_=_0.0818),_Loss_of_MoRF_binding_(P_=_0.0876),_Loss_of_sheet_(P_=_0.1158),_Gain_of_phosphorylation_at_S269_(P_=_0.1867)" P04637 0.99877 0.988 P53_HUMAN M 3.18 0.89049 R273L "R273L,R273L,R273L,R273L,R273L,." 0.81033 "simple_aae,simple_aae,simple_aae,simple_aae,simple_aae,without_aae" "D,D,D,D,D,D" 1 "1,1,1,1,1,1" 0.92456 "D,.,.,.,.,.,.,.,D,.,.,D,D,.,.,D,.,.,D" "-6.46,.,.,.,.,.,.,.,-6.7,.,.,-6.46,-6.46,.,.,-6.7,.,.,-6.04" 0.98036 0.921 1 10 15.662 0.76845 0.0:1.0:0.0:0.0 - - "ENST00000420246,NM_001126116.1,NM_001126117.1,ENST00000359597,NM_001126118.1,NM_001276697.1,NM_001276699.1,ENST00000269305,NM_001276698.1,ENST00000455263,CCDS11118.1,ENST00000445888,NM_001276761.1,NM_001276760.1,CCDS45605.1,NM_001276696.1,NM_001126112.2,NM_001276695.1,NM_001126113.2,ENST00000509690,NM_000546.5,NM_001126114.2,NM_001126115.1" "R273L,R141L,R141L,R273L,R234L,R114L,R114L,R273L,R114L,R273L,R273L,R273L,R234L,R234L,R273L,R234L,R273L,R234L,R273L,R141L,R273L,R273L,R141L" 0.99915 "0.997,0.995,0.995,0.988,0.994,0.995,0.995,0.997,0.995,0.997,0.56,0.993,0.994,0.994,0.56,0.994,0.997,0.994,0.997,0.992,0.997,0.997,0.995" "4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4,4" "0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0" rs28934576 "Pancreatic_adenocarcinoma,Neoplasm_of_brain,Squamous_cell_carcinoma_of_the_head_and_neck,Chronic_lymphocytic_leukemia,Colorectal_Neoplasms,Adenocarcinoma_of_lung,Medulloblastoma,Adrenocortical_carcinoma,Malignant_melanoma_of_skin,Brainstem_glioma,Malignant_neoplasm_of_body_of_uterus,Adenocarcinoma_of_prostate,Acute_myeloid_leukemia,Oesophageal_carcinoma,Hepatocellular_carcinoma,Small_cell_lung_cancer,Multiple_myeloma,Adenocarcinoma_of_stomach,Neoplasm_of_breast,Uterine_Carcinosarcoma,Squamous_cell_carcinoma_of_lung,Ovarian_Serous_Cystadenocarcinoma,Transitional_cell_carcinoma_of_the_bladder,Glioblastoma" - AEFGBI D 0.97815 0.99597 1 4.07E-06 - - 15280 - - 33540 245868 - - 9842 - - 17234 - - 22272 1 8.97E-06 111470 - - 5476 - - 30754 - - - - - - - - - - - - - - - - - - - - - - - - - 0.722319 0.8535 1 0.71511 0.792 0.33361 7.905 0.86375 0.932 0.44536 - - - - - 5 17 C A 386 418 805 0.519254658 NACT.55 13 32338200 - frameshift_variant HIGH BRCA2 675 Transcript NM_000059.3 protein_coding 27-Nov - NM_000059.3:c.3847_3848del NP_000050.2:p.Val1283LysfsTer2 4073-4074 3846-3847 1282-1283 TV/TX acTGta/acta rs746229647 - 1 - EntrezGene HGNC:1101 YES - - "rseq_mrna_nonmatch,rseq_cds_mismatch" RefSeq TG TG OK - 1 - 1 1 - - - - - - 0.0004737 0.0003667 4.47E-05 0 0 0 0 0 9.46E-05 0 0 pathogenic - - "257,418,682,403,326,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000" - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - 1 - - - - - - 1 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 5 13 CTG C 646 430 1076 0.3996 NACT.56 19 15170424 G missense_variant MODERATE NOTCH3 4854 Transcript NM_000435.2 protein_coding 27/33 - NM_000435.2:c.5021T>C NP_000426.2:p.Leu1674Pro 5097 5021 1674 L/P cTc/cCc - - -1 - EntrezGene HGNC:7883 YES - - rseq_mrna_match RefSeq A A - deleterious(0) 1 probably_damaging(0.993) 1 - - - - - - - - - 0 - - - - - - - - - - - - deleterious(0.895) - - - - - - - - - - - - - - A/A A 32 6.658416 0.91269 0.97023 0.998982611 A/A - - - - 6.661668 0.632947849 0.77259 7.64093 0.735191403 c - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.85184 D -1.97 3.69 3.69 0.41317 - 0.547309 0.13894 - - 0.999999986 0.74713 - 0.697927 0.64085 - 0.567892 0.33103 - - - - - D 1 0.96953 0.640907873 D 0.91532 0.7515 D 0.92331 0.633 L1674P "Gain_of_disorder_(P_=_0.0063),_Loss_of_stability_(P_=_0.0241),_Gain_of_relative_solvent_accessibility_(P_=_0.0249),_Gain_of_glycosylation_at_T1673_(P_=_0.0474),_Gain_of_catalytic_residue_at_W1675_(P_=_0.0692)" Q9UM47 0.71912 0.59 NOTC3_HUMAN M 3.495 0.92869 L1674P L1674P 0.81033 simple_aae D 1 1 0.91248 D -6.42 0.97329 0.902 1 9 11.4687 0.49314 1.0:0.0:0.0:0.0 - - NM_000435.2 L1674P 0.94972 0.953 - - - - - AEFDBHCI D 0.83166 0.98486 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 0.631515 0.40598 1 0.71511 0.999 0.74975 9.228 0.94359 1.013 0.64264 - - - - - 5 19 A G 494 15 511 0.0294 NACT.57 NA no_muts none NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA