Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high OR10G4 390264 broad.mit.edu 37 11 123886737 123886737 + Silent SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:123886737T>C ENST00000320891.4 + 1 456 c.456T>C c.(454-456)tcT>tcC p.S152S NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) TCAGTGGCTCTCTGCACTCTG 0.562000 0 SO:0001819 synonymous_variant ENST00000320891.4 1 1 hg19 CCDS31702.1 TCGA-HZ-8003-01A-21D-2201-08 OR10G4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387268.1 0 0 0 39 1245 0 191 0 0 0 0 191 2 0 0 0 0 0 2 1 1 35 1130 0 295 2 0 0 0 0 191 2 -3.589987 1 1 0 0 1 0 0 0 1.950642 0 0.160000 2 0.135091 0.360000 0.260000 0.490000 0.370000 0.375724 0.360000 0 0.310000 0.430000 SLC22A8 9376 broad.mit.edu 37 11 62760741 62760741 + Nonsense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:62760741G>A ENST00000336232.2 - 11 1732 c.1597C>T c.(1597-1599)Cag>Tag p.Q533* SLC22A8_ENST00000535878.1_Nonsense_Mutation_p.Q410*|SLC22A8_ENST00000545207.1_Nonsense_Mutation_p.Q442*|SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.Q533*|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000542795.1_5'Flank NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 28 Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495) CCGTGAGGCTGTAGAGGGATC 0.607000 0 SO:0001587 stop_gained ENST00000336232.2 0 1 hg19 CCDS8042.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 20.200000 3.942501 0.736720 . . ENSG00000149452 ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000430500 . . . 5.260000 3.290000 0.377130 . 0.598101 0.15881 N 0.240067 . . . . . . 0.367020 D 0.880157 . . . . . . . . . . 0.28530 T 0.3 . 10.463200 0.445920 0.0:0.0:0.5628:0.4372 . . . . X 533;519;442;410;533 . ENSP00000337335:Q533X Q - 1 0 SLC22A8 62517317 9.700000e-01 0.335900 8.890000e-01 0.348800 5.200000e-01 0.343770 1.273000 0.331210 0.615000 0.301240 0.561000 0.740990 CAG TCGA-HZ-8003-01A-21D-2201-08 SLC22A8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396191.1 0 0 0 5 192 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 9.340468e-01 5 187 0 34 2 0 0 0 0 35 2 -3.483756 1 1 121412 3 29 1 1 2 3 2.021625 0 0.160000 2 0.167987 0.360000 0.130000 1.000000 0.320000 0.431721 0.360000 0 0.220000 0.610000 KDM2A 22992 broad.mit.edu 37 11 67018096 67018096 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:67018096G>A ENST00000529006.2 + 17 3041 c.2595G>A c.(2593-2595)gaG>gaA p.E865E KDM2A_ENST00000308783.5_Silent_p.E323E|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.E426E|KDM2A_ENST00000398645.2_Intron NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 36 aggaggaggaggaagaTGACA 0.667000 0 SO:0001819 synonymous_variant ENST00000529006.2 0 1 hg19 CCDS44657.1 TCGA-HZ-8003-01A-21D-2201-08 KDM2A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393140.2 0 0 0 5 212 0 46 0 1.927217e-01 0 29 0 46 2 0 0 0 0 0 2 1 9.382630e-01 2 215 0 46 2 0 0 0 0 46 2 -6.527559 1 0 0 0 1 1 2 3 2.021625 0 0.160000 2 0.167987 0.330000 0.120000 1.000000 0.280000 0.401878 0.330000 0 0.200000 0.550000 SHANK2 22941 broad.mit.edu 37 11 70332827 70332827 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr11:70332827C>T ENST00000423696.2 - 15 2470 c.2434G>A c.(2434-2436)Gcg>Acg p.A812T SHANK2_ENST00000338508.4_Missense_Mutation_p.A1192T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A596T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A595T Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCGCTGCTCGCGGAGGGCACT 0.706000 0 SO:0001583 missense ENST00000423696.2 0 1 hg19 . . . . . . . . . . C 0.010000 -1.777281 0.006400 . . ENSG00000162105 ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018 T;T;T;T;T;T 0.42900 0.96;0.96;0.96;0.96;0.96;0.96 3.620000 1.140000 0.207030 . 1.993000 0.03565 N 0.227639 T 0.30293 0.0760 L 0.29908 0.895 0.274470 N 0.953541 B;B;B 0.17667 0.008;0.023;0.023 B;B;B 0.08055 0.001;0.002;0.003 T 0.13791 -1.0496 10 0.20046 T 0.44 . 5.831000 0.185810 0.0:0.0901:0.3193:0.5906 . 812;1191;596 Q9UPX8;Q9UPX8-3;Q9UPX8-4 SHAN2_HUMAN;.;. T 596;595;470;1192;812;830;815 ENSP00000399423:A596T;ENSP00000386491:A595T;ENSP00000402944:A470T;ENSP00000345193:A1192T;ENSP00000394536:A812T;ENSP00000294018:A815T ENSP00000294018:A815T A - 1 0 SHANK2 70010475 1 0.714170 1.000000e-03 0.086480 0 0.004340 1.432000 0.349360 -0.061000 0.131100 -0.340000 0.080310 GCG TCGA-HZ-8003-01A-21D-2201-08 SHANK2-203 KNOWN basic protein_coding protein_coding 0 0 0 9 464 0 71 0 4.844705e-04 0 2 0 71 2 0 0 0 0 0 2 1 9.939081e-01 9 457 0 70 2 0 0 0 0 71 2 -8.063042 1 1 0 0 1 2 3 5 2.257427 1 0.160000 2 0.259520 0.320000 0.140000 1.000000 0.260000 0.464717 0.320000 0 0.210000 1.000000 RPH3A 22895 broad.mit.edu 37 12 113303278 113303278 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:113303278G>A ENST00000389385.4 + 6 787 c.290G>A c.(289-291)cGc>cAc p.R97H RPH3A_ENST00000543106.2_Missense_Mutation_p.R97H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R93H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R97H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R48H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R48H|RPH3A_ENST00000420983.2_Missense_Mutation_p.R97H NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A 47 GGGGTGAACCGCTGCATACTG 0.522000 0 SO:0001583 missense ENST00000389385.4 1 1 hg19 CCDS44979.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 25.200000 4.613988 0.873590 . . ENSG00000089169 ENST00000548197;ENST00000543106;ENST00000551593;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.75704 -0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96 5.610000 5.610000 0.854770 Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1); 0.000000 0.64402 D 0.000006 T 0.78811 0.4342 L 0.35487 1.065 0.807220 D 1.000000 D;D;D;D 0.76494 0.999;0.998;0.998;0.999 P;P;P;P 0.60173 0.87;0.605;0.605;0.778 T 0.79293 -0.1863 10 0.51188 T 0.08 . 18.409700 0.905480 0.0:0.0:1.0:0.0 . 48;97;97;93 F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2 .;.;RP3A_HUMAN;. H 97;97;97;97;97;97;97;97;48;30;97;93;97;97;48;97 ENSP00000446570:R97H;ENSP00000440384:R97H;ENSP00000446780:R97H;ENSP00000450382:R97H;ENSP00000449613:R97H;ENSP00000447505:R97H;ENSP00000449650:R97H;ENSP00000374036:R97H;ENSP00000413254:R48H;ENSP00000448100:R30H;ENSP00000447083:R97H;ENSP00000448297:R93H;ENSP00000405357:R97H;ENSP00000450216:R97H;ENSP00000450347:R48H;ENSP00000408889:R97H ENSP00000374036:R97H R + 2 0 RPH3A 111787661 1 0.714170 1 0.803570 9.980000e-01 0.957120 7.191000 0.777630 2.631000 0.891680 0.655000 0.942530 CGC TCGA-HZ-8003-01A-21D-2201-08 RPH3A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000405561.1 1 0 0 34 637 0 105 0 0 0 0 105 2 0 0 0 0 0 2 1 1 29 627 0 104 2 0 0 0 0 105 2 -3.141877 1 1 121412 1 33 1 0 1 1 1.992052 0 0.160000 2 0.155270 0.620000 0.440000 0.840000 0.620000 0.641146 0.620000 0 0.530000 0.740000 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 C G C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr12:25398285C>G ENST00000256078.4 - 2 97 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 5144 Substitution - Missense(5142)|Insertion - In frame(2) GRCh37 CM076251 KRAS M rs121913530 SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 0 1 hg19 CCDS8703.1 . . . . . . . . . . C 28.600000 4.930538 0.923890 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84893 0.5573 M 0.84082 2.675 0.807220 D 1.000000 P;P 0.43287 0.802;0.741 B;P 0.47941 0.36;0.562 D 0.86658 0.1902 10 0.66056 D 0.02 . 18.371900 0.904090 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN R 12 ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R ENSP00000256078:G12R G - 1 0 KRAS 25289552 1 0.714170 1 0.803570 9.980000e-01 0.957120 7.743000 0.850200 2.668000 0.907890 0.563000 0.778840 GGT TCGA-HZ-8003-01A-21D-2201-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 0 0 0 8 186 0 18 1 3.309613e-01 4 22 0 18 2 1 9.999589e-01 18 530 0 434 2 1 9.886745e-01 8 181 0 17 2 1 1 331 7683 0 18 2 -4.093351 1 1 0 0 1 0 1 1 1.992052 0 0.160000 2 0.155270 0.520000 0.250000 0.920000 0.500000 0.553278 0.520000 0 0.370000 0.720000 HNRNPC 3183 broad.mit.edu 37 14 21680019 21680019 + Missense_Mutation SNP G G T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:21680019G>T ENST00000320084.7 - 6 865 c.626C>A c.(625-627)tCt>tAt p.S209Y HNRNPC_ENST00000420743.2_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556142.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000554455.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556628.1_Missense_Mutation_p.S129Y|HNRNPC_ENST00000336053.6_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555309.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000553300.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000557201.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000554969.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555883.1_Missense_Mutation_p.S153Y|HNRNPC_ENST00000555914.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556897.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000553753.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000449098.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000430246.2_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556513.1_Missense_Mutation_p.S209Y NM_001077442.1 NP_001070910.1 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) TTCCAGGAGAGAATCCACTTT 0.363000 NSCLC(108;607 2244 12726 38757) 0 SO:0001583 missense ENST00000320084.7 1 1 hg19 CCDS41915.1 . . . . . . . . . . G 10.190000 1.282988 0.233920 . . ENSG00000092199 ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.15603 2.79;2.97;2.82;2.82;2.81;2.97;2.82;2.79;2.82;2.99;2.41;2.59;2.81;2.97;2.82;2.82;2.97;2.63;2.41;2.8 5.340000 4.430000 0.535970 . 0.215683 0.29565 U 0.011792 T 0.17066 0.0410 L 0.44542 1.39 0.356000 D 0.807759 B;B;B;B;B;B;B 0.30482 0.182;0.101;0.039;0.001;0.281;0.185;0.162 B;B;B;B;B;B;B 0.29524 0.045;0.026;0.057;0.005;0.103;0.032;0.094 T 0.14062 -1.0486 10 0.48119 T 0.1 . 14.554500 0.680910 0.0:0.0:0.8522:0.1478 . 104;196;129;153;196;209;196 B4DQQ2;B4DY08;P07910-3;P07910-4;G3V4C1;P07910;P07910-2 .;.;.;.;.;HNRPC_HUMAN;. Y 196;209;196;196;209;209;196;196;196;209;129;153;209;209;196;104;196;209;117;209;93;196 ENSP00000338095:S196Y;ENSP00000319690:S209Y;ENSP00000404559:S196Y;ENSP00000450725:S196Y;ENSP00000451187:S209Y;ENSP00000451291:S209Y;ENSP00000442816:S196Y;ENSP00000450548:S196Y;ENSP00000451708:S196Y;ENSP00000450790:S209Y;ENSP00000451652:S129Y;ENSP00000450629:S153Y;ENSP00000452214:S209Y;ENSP00000452276:S209Y;ENSP00000450544:S196Y;ENSP00000451176:S196Y;ENSP00000404848:S209Y;ENSP00000450601:S117Y;ENSP00000452545:S93Y;ENSP00000452021:S196Y ENSP00000216296:S104Y S - 2 0 HNRNPC 20749859 1 0.714170 9.960000e-01 0.522420 9.860000e-01 0.746190 4.949000 0.635960 1.358000 0.459220 0.655000 0.942530 TCT TCGA-HZ-8003-01A-21D-2201-08 HNRNPC-201 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000410235.1 0 0 1 25 1059 1 119 1 4.110100e-01 127 1097 1 119 31 0 0 0 0 0 2 1 9.999997e-01 25 1028 0 119 2 0 0 0 1 119 2 -2.624841 1 1 120962 1 29 1 1 2 3 2.016841 0 0.160000 2 0.166667 0.290000 0.190000 1.000000 0.290000 0.356875 0.290000 0 0.240000 0.380000 SYNE2 23224 broad.mit.edu 37 14 64580216 64580216 + Missense_Mutation SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr14:64580216A>G ENST00000344113.4 + 66 12979 c.12767A>G c.(12766-12768)aAc>aGc p.N4256S SYNE2_ENST00000357395.3_Missense_Mutation_p.N641S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N4256S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N890S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.N4271S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N641S NM_015180.4 NP_055995.4 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 224 CAACAAGCCAACGTGGCAGTT 0.577000 0 SO:0001583 missense ENST00000344113.4 1 1 hg19 CCDS41963.1 . . . . . . . . . . A 12.330000 1.904349 0.336280 . . ENSG00000054654 ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308 T;T;T;T;T;T 0.56611 0.84;4.14;0.84;0.45;4.19;4.14 5.730000 0.724000 0.182360 . 0.494042 0.20205 N 0.097004 T 0.37758 0.1015 L 0.32530 0.975 0.807220 D 1.000000 B;B;B 0.23377 0.004;0.051;0.084 B;B;B 0.18561 0.008;0.01;0.022 T 0.10989 -1.0606 10 0.46703 T 0.11 . 9.713100 0.402580 0.7534:0.0:0.2466:0.0 . 641;4256;4256 Q8WXH0-7;Q8WXH0;Q8WXH0-2 .;SYNE2_HUMAN;. S 4256;641;4256;4271;4271;890;641;148 ENSP00000350719:N4256S;ENSP00000349969:N641S;ENSP00000341781:N4256S;ENSP00000452570:N4271S;ENSP00000450831:N890S;ENSP00000378249:N641S ENSP00000261678:N4271S N + 2 0 SYNE2 63649969 7.650000e-01 0.284850 9.980000e-01 0.565050 9.990000e-01 0.989320 0.068000 0.145310 -0.097000 0.123070 0.533000 0.621200 AAC TCGA-HZ-8003-01A-21D-2201-08 SYNE2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276994.2 1 0 0 10 205 0 53 1 5.328914e-01 5 31 0 53 2 0 0 0 0 0 2 1 9.963774e-01 9 197 0 53 2 0 0 0 0 53 2 -13.252750 1 1 0 0 1 1 2 3 2.014147 0 0.160000 2 0.166005 0.610000 0.310000 1.000000 1.000000 0.647840 0.610000 0 0.440000 0.870000 SRCAP 10847 broad.mit.edu 37 16 30723229 30723229 + Silent SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:30723229A>G ENST00000262518.4 + 12 1951 c.1566A>G c.(1564-1566)gcA>gcG p.A522A SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Silent_p.A522A|SRCAP_ENST00000395059.2_Silent_p.A522A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 136 Colorectal(24;0.198) GAAGTTCAGCATCAGAGGAAT 0.483000 0 SO:0001819 synonymous_variant ENST00000262518.4 1 1 hg19 CCDS10689.2 TCGA-HZ-8003-01A-21D-2201-08 SRCAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255523.1 0 0 1 13 426 0 76 1 5.296234e-01 10 46 0 76 2 0 0 0 0 0 2 1 9.994734e-01 12 417 0 76 2 0 0 0 0 76 2 -12.781280 1 1 121412 2 40 1 1 2 3 2.025899 0 0.160000 2 0.168646 0.390000 0.210000 1.000000 0.360000 0.459368 0.390000 0 0.290000 0.570000 WDR90 197335 broad.mit.edu 37 16 716059 716059 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:716059C>T ENST00000293879.4 + 36 4544 c.4544C>T c.(4543-4545)aCg>aTg p.T1515M WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000549091.1_Missense_Mutation_p.T1517M|WDR90_ENST00000547944.1_Missense_Mutation_p.T114M|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000315764.4_Missense_Mutation_p.T114M Q96KV7 WDR90_HUMAN WD repeat domain 90 37 Hepatocellular(780;0.0218) GTCTCCCGCACGGCCATGGAG 0.677000 0 SO:0001583 missense ENST00000293879.4 0 1 hg19 CCDS42092.1 . . . . . . . . . . C 5.658000 0.306009 0.107330 . . ENSG00000161996 ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764 T;T;T;T 0.65549 3.43;1.56;-0.16;1.62 4.450000 1.230000 0.212490 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 1.085630 0.06926 N 0.810310 T 0.47173 0.1431 L 0.41027 1.25 0.093100 N 1.000000 P;P;P;P 0.45428 0.858;0.823;0.621;0.729 B;B;B;B 0.33042 0.133;0.157;0.05;0.121 T 0.28618 -1.0038 10 0.33940 T 0.23 . 8.672100 0.341560 0.0:0.8547:0.0:0.1453 . 114;114;114;1515 Q96KV7-10;Q96KV7-7;G3V201;Q96KV7 .;.;.;WDR90_HUMAN M 1517;1515;114;114 ENSP00000448122:T1517M;ENSP00000293879:T1515M;ENSP00000449576:T114M;ENSP00000322808:T114M ENSP00000293879:T1515M T + 2 0 WDR90 656060 3.640000e-01 0.249970 0 0.037020 9.700000e-02 0.187540 2.238000 0.430700 -0.005000 0.143950 0.561000 0.740990 ACG TCGA-HZ-8003-01A-21D-2201-08 WDR90-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000404335.1 0 0 0 14 633 0 117 0 2.654613e-02 0 11 0 117 2 0 0 0 0 0 2 1 9.997215e-01 14 622 0 116 2 0 0 0 0 117 2 -3.024447 1 1 120706 4 37 1 1 2 3 2.016491 0 0.160000 2 0.166667 0.280000 0.150000 1.000000 0.270000 0.346492 0.280000 0 0.210000 0.390000 ANKRD11 29123 broad.mit.edu 37 16 89346134 89346134 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr16:89346134G>A ENST00000301030.4 - 9 7276 c.6816C>T c.(6814-6816)gaC>gaT p.D2272D ANKRD11_ENST00000378330.2_Silent_p.D2272D NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) GGGCGGGGCCGTCAGGGGCAC 0.756000 0 SO:0001819 synonymous_variant ENST00000301030.4 0 1 hg19 CCDS32513.1 TCGA-HZ-8003-01A-21D-2201-08 ANKRD11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000430462.3 0 0 0 3 42 0 21 0 0 0 0 21 2 0 0 0 0 0 2 1 7.818303e-01 3 38 0 22 2 0 0 0 0 21 2 -8.793342 1 1 111222 1 22 1 1 2 3 2.061087 0 0.160000 2 0.175824 0.990000 0.290000 1.000000 1.000000 0.839727 0.990000 1 0.560000 1.000000 DHX58 79132 broad.mit.edu 37 17 40262918 40262918 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:40262918G>A ENST00000251642.3 - 5 606 c.384C>T c.(382-384)atC>atT p.I128I NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) CATCCACCACGATCAGGGAGA 0.542000 0 SO:0001819 synonymous_variant ENST00000251642.3 1 1 hg19 CCDS11416.1 TCGA-HZ-8003-01A-21D-2201-08 DHX58-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257396.1 0 0 0 27 801 0 110 1 3.424598e-01 10 26 0 110 2 0 0 0 0 0 2 1 9.999999e-01 26 785 0 110 2 0 0 0 0 110 2 -2.998511 1 1 0 0 1 1 2 3 2.004222 0 0.160000 2 0.164013 0.410000 0.270000 1.000000 0.410000 0.448292 0.410000 0 0.340000 0.520000 PDK2 5164 broad.mit.edu 37 17 48187345 48187345 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:48187345C>A ENST00000503176.1 + 11 1269 c.1108C>A c.(1108-1110)Cgc>Agc p.R370S PDK2_ENST00000007708.3_Missense_Mutation_p.R306S NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 20 CTCGGTGGAGCGCCTGCCTGT 0.662000 Autosomal Dominant Polycystic Kidney Disease 0 SO:0001583 missense Familial Cancer Database ADPKD ENST00000503176.1 0 1 hg19 CCDS11559.1 . . . . . . . . . . C 14.840000 2.654518 0.474670 . . ENSG00000005882 ENST00000007708;ENST00000503176 T;T 0.42513 0.98;0.97 4.310000 4.310000 0.513920 ATPase-like, ATP-binding domain (1); 0.000000 0.85682 D 0.000000 T 0.41811 0.1175 M 0.79475 2.455 0.530050 D 0.999960 P 0.41929 0.765 B 0.38327 0.271 T 0.41233 -0.9520 10 0.35671 T 0.21 -19.2597 10.109500 0.425550 0.3243:0.6757:0.0:0.0 . 370 Q15119 PDK2_HUMAN S 306;370 ENSP00000007708:R306S;ENSP00000420927:R370S ENSP00000007708:R306S R + 1 0 PDK2 45542344 1 0.714170 1 0.803570 9.920000e-01 0.810270 3.365000 0.523350 2.121000 0.651140 0.462000 0.415740 CGC TCGA-HZ-8003-01A-21D-2201-08 PDK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366492.2 0 0 0 3 54 0 17 0 9.588789e-01 0 118 0 17 2 0 0 0 0 0 2 1 8.069441e-01 3 53 0 17 2 0 0 0 0 17 2 -7.402529 1 0 0 0 1 1 2 3 2.004222 0 0.160000 2 0.164013 0.740000 0.210000 1.000000 1.000000 0.721220 0.740000 0 0.420000 1.000000 TP53 7157 broad.mit.edu 37 17 7579317 7579317 + Missense_Mutation SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:7579317A>G ENST00000269305.4 - 4 559 c.370T>C c.(370-372)Tgc>Cgc p.C124R TP53_ENST00000445888.2_Missense_Mutation_p.C124R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C124R|TP53_ENST00000420246.2_Missense_Mutation_p.C124R|TP53_ENST00000359597.4_Missense_Mutation_p.C124R|TP53_ENST00000413465.2_Missense_Mutation_p.C124R NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.0?(8)|p.C124G(4)|p.C124R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.C124fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124fs*25(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CTGACCGTGCAAGTCACAGAC 0.542000 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 28 Deletion - Frameshift(9)|Substitution - Missense(8)|Whole gene deletion(8)|Insertion - Frameshift(2)|Deletion - In frame(1) SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 . . . . . . . . . . A 21.000000 4.075353 0.764150 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591 D;D;D;D;D;D;D;D 0.99751 -6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63 4.750000 4.750000 0.604580 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.099990 0.64402 D 0.000002 D 0.99674 0.9878 M 0.78049 2.395 0.807220 D 1.000000 D;P;D;P;D;D;D 0.89917 0.988;0.934;1.0;0.923;0.999;1.0;0.986 P;P;D;P;D;D;D 0.91635 0.883;0.806;0.997;0.63;0.995;0.999;0.918 D 0.97415 1.0005 10 0.72032 D 0.01 -11.7577 12.536300 0.561440 1.0:0.0:0.0:0.0 . 85;124;124;124;124;124;124 B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. R 124;124;124;124;124;124;113;124;124 ENSP00000410739:C124R;ENSP00000352610:C124R;ENSP00000269305:C124R;ENSP00000398846:C124R;ENSP00000391127:C124R;ENSP00000391478:C124R;ENSP00000424104:C124R;ENSP00000426252:C124R ENSP00000269305:C124R C - 1 0 TP53 7520042 1 0.714170 9.930000e-01 0.491080 9.840000e-01 0.730920 5.673000 0.681090 2.125000 0.653670 0.533000 0.621200 TGC TCGA-HZ-8003-01A-21D-2201-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 0 0 0 11 658 0 140 1 4.569220e-01 15 73 0 140 2 1 5.898037e-01 6 109 0 69 2 1 9.981255e-01 11 643 0 139 2 0 0 0 0 140 2 -8.451235 1 1 0 0 1 1 2 3 2.004222 0 0.160000 2 0.164013 0.210000 0.110000 1.000000 0.210000 0.259408 0.210000 0 0.150000 0.300000 NOTUM 147111 broad.mit.edu 37 17 79910974 79910974 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr17:79910974C>T ENST00000409678.3 - 11 1737 c.1354G>A c.(1354-1356)Gtc>Atc p.V452I NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGGTCTCGGACGGTGGGGCAT 0.662000 0 SO:0001583 missense ENST00000409678.3 0 1 hg19 CCDS32771.2 . . . . . . . . . . C 5.424000 0.263310 0.102940 . . ENSG00000185269 ENST00000409678 . . . 4.840000 1.170000 0.208850 . 0.216848 0.47852 N 0.000211 T 0.07188 0.0182 N 0.01352 -0.895 0.214730 N 0.999676 B 0.02656 0.0 B 0.01281 0.0 T 0.38045 -0.9679 9 0.02654 T 1 . 5.250500 0.155190 0.0:0.1662:0.1503:0.6835 . 452 Q6P988 NOTUM_HUMAN I 452 . ENSP00000387310:V452I V - 1 0 NOTUM 77504264 1 0.714170 9.990000e-01 0.593770 8.820000e-01 0.509910 1.932000 0.401430 0.228000 0.210190 -0.402000 0.063650 GTC TCGA-HZ-8003-01A-21D-2201-08 NOTUM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335123.2 0 0 0 7 450 0 76 0 0 0 1 0 76 2 0 0 0 0 0 2 1 9.786830e-01 7 437 0 76 2 0 0 0 0 76 2 -6.312783 1 0 121412 1 28 1 1 2 3 2.004222 0 0.160000 2 0.164013 0.200000 0.080000 1.000000 0.190000 0.253273 0.200000 0 0.130000 0.310000 SPC24 147841 broad.mit.edu 37 19 11258504 11258504 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:11258504C>A ENST00000592540.1 - 4 508 c.477G>T c.(475-477)atG>atT p.M159I NM_182513.2 NP_872319.1 Q8NBT2 SPC24_HUMAN SPC24, NDC80 kinetochore complex component 5 TGCCTTTGACCATCCCTGGCT 0.413000 0 SO:0001583 missense ENST00000592540.1 0 1 hg19 CCDS45974.1 . . . . . . . . . . C 0.004000 -2.267896 0.002590 . . ENSG00000161888 ENST00000429831;ENST00000423327 . . . 5.090000 -3.270000 0.050480 . 0.808315 0.11282 N 0.580210 T 0.20901 0.0503 N 0.17082 0.46 0.093100 N 1.000000 B 0.02656 0.0 B 0.01281 0.0 T 0.26744 -1.0094 9 0.19590 T 0.45 -10.8297 8.142000 0.310890 0.1205:0.2107:0.5919:0.077 . 159 Q8NBT2 SPC24_HUMAN I 113;159 . ENSP00000397131:M159I M - 3 0 SPC24 11119504 0 0.058580 7.000000e-03 0.137880 1.240000e-01 0.203990 -0.899000 0.041010 -0.105000 0.121320 -0.150000 0.136520 ATG TCGA-HZ-8003-01A-21D-2201-08 SPC24-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453059.1 0 0 0 5 124 0 11 0 1.343387e-02 0 4 0 11 2 0 0 0 0 0 2 1 9.292268e-01 2 120 0 11 2 0 0 0 0 11 2 -8.036516 1 0 0 0 1 1 2 3 2.029693 0 0.160000 2 0.169304 0.550000 0.200000 1.000000 1.000000 0.601977 0.550000 0 0.350000 0.950000 CCDC159 126075 broad.mit.edu 37 19 11464523 11464523 + Missense_Mutation SNP G G T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:11464523G>T ENST00000588790.1 + 11 1192 c.745G>T c.(745-747)Gcc>Tcc p.A249S DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.A249S|DKFZP761J1410_ENST00000251473.5_5'Flank P0C7I6 CC159_HUMAN coiled-coil domain containing 159 5 GTGCTCGGGGGCCTGTCCCAA 0.587000 0 SO:0001583 missense ENST00000588790.1 0 1 hg19 CCDS45976.1 . . . . . . . . . . G 6.981000 0.551134 0.133740 . . ENSG00000183401 ENST00000458408;ENST00000427879 T 0.44881 0.91 4.030000 -1.860000 0.077600 . . . . . T 0.20618 0.0496 N 0.22421 0.69 0.093100 N 1.000000 B;B 0.19200 0.034;0.003 B;B 0.21151 0.033;0.01 T 0.28933 -1.0028 9 0.10377 T 0.69 . 3.283600 0.069240 0.4716:0.0:0.3389:0.1894 . 364;249 P0C7I6;P0C7I6-2 CC159_HUMAN;. S 249;364 ENSP00000402239:A249S ENSP00000390400:A364S A + 1 0 CCDC159 11325523 0 0.058580 0 0.037020 6.000000e-03 0.054640 0.226000 0.177760 -0.209000 0.101560 0.313000 0.208870 GCC TCGA-HZ-8003-01A-21D-2201-08 CCDC159-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458761.1 0 0 0 7 62 0 8 0 8.287214e-01 0 30 0 8 2 0 0 0 0 0 2 1 9.805284e-01 6 61 0 8 2 0 0 0 0 8 2 -2.607937 1 1 0 0 1 1 2 3 2.029693 0 0.160000 2 0.169304 0.990000 0.600000 1.000000 1.000000 0.957623 0.990000 1 0.910000 1.000000 ZNF442 79973 broad.mit.edu 37 19 12462842 12462842 + Missense_Mutation SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:12462842T>C ENST00000242804.4 - 5 830 c.248A>G c.(247-249)aAt>aGt p.N83S ZNF442_ENST00000438182.1_Missense_Mutation_p.N14S NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 31 CCTCCTGGGATTTCTGTGCTG 0.358000 0 SO:0001583 missense ENST00000242804.4 1 1 hg19 CCDS12271.1 . . . . . . . . . . T 11.220000 1.573187 0.280920 . . ENSG00000198342 ENST00000242804;ENST00000438182;ENST00000424168 T;T;T 0.06371 3.41;3.31;3.99 1.510000 1.510000 0.230080 Krueppel-associated box (3); . . . . T 0.02970 0.0088 N 0.13327 0.33 0.093100 N 1.000000 P 0.36616 0.561 B 0.32864 0.154 T 0.43589 -0.9382 9 0.14656 T 0.56 . 5.400700 0.162950 0.0:0.0:0.0:1.0 . 83 Q9H7R0 ZN442_HUMAN S 83;14;14 ENSP00000242804:N83S;ENSP00000388634:N14S;ENSP00000404935:N14S ENSP00000242804:N83S N - 2 0 ZNF442 12323842 3.000000e-03 0.150020 2.320000e-01 0.240090 6.130000e-01 0.373490 0.306000 0.192790 0.617000 0.301600 0.260000 0.189580 AAT TCGA-HZ-8003-01A-21D-2201-08 ZNF442-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344109.1 0 0 0 15 529 0 51 0 1.251004e-02 0 6 0 51 2 0 0 0 0 0 2 1 9.998278e-01 13 508 0 51 2 0 0 0 0 51 2 -3.563255 1 1 0 0 1 1 2 3 2.029693 0 0.160000 2 0.169304 0.360000 0.200000 1.000000 0.350000 0.437705 0.360000 0 0.270000 0.520000 CYP4F11 57834 broad.mit.edu 37 19 16024638 16024638 + Silent SNP C C T rs143714626 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:16024638C>T ENST00000402119.4 - 12 1905 c.1479G>A c.(1477-1479)ccG>ccA p.P493P CYP4F11_ENST00000248041.8_Silent_p.P493P|CYP4F11_ENST00000591841.1_Silent_p.P168P|CYP4F11_ENST00000326742.8_3'UTR NM_021187.3 NP_067010.3 cytochrome P450, family 4, subfamily F, polypeptide 11 25 CAGTGTGGGTCGGCAGGATGC 0.627000 0 SO:0001819 synonymous_variant ENST00000402119.4 0 1 hg19 CCDS12337.1 TCGA-HZ-8003-01A-21D-2201-08 CYP4F11-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460385.2 0 0 0 6 284 0 46 1 7.994487e-02 2 17 0 46 2 0 0 0 0 0 2 1 9.601589e-01 6 271 0 46 2 0 0 0 0 46 2 -6.868998 1 1 121412 7 39 1 1 2 3 2.029693 0 0.160000 2 0.169304 0.290000 0.110000 1.000000 0.250000 0.376260 0.290000 0 0.190000 0.490000 AP3D1 8943 broad.mit.edu 37 19 2110781 2110781 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:2110781G>A ENST00000345016.5 - 25 3145 c.2914C>T c.(2914-2916)Ctc>Ttc p.L972F AP3D1_ENST00000356926.4_Missense_Mutation_p.L931F|AP3D1_ENST00000350812.6_Missense_Mutation_p.L803F|AP3D1_ENST00000355272.6_Missense_Mutation_p.L1034F NM_003938.6 NP_003929.4 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 37 Hepatocellular(1079;0.137) CTGGCATTGAGTGAGTCCAGC 0.667000 0 SO:0001583 missense ENST00000345016.5 0 1 hg19 CCDS42459.1 . . . . . . . . . . G 22.500000 4.297458 0.810250 . . ENSG00000065000 ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812 T;T;T;T 0.54479 0.57;0.57;0.57;0.57 4.810000 3.760000 0.432080 . 0.000000 0.64402 D 0.000001 T 0.68357 0.2992 M 0.72118 2.19 0.807220 D 1.000000 D;D;D;D 0.89917 0.999;1.0;0.994;0.992 D;D;D;P 0.85130 0.958;0.997;0.924;0.876 T 0.69007 -0.5259 10 0.44086 T 0.13 -39.004 12.064100 0.535780 0.0879:0.0:0.9121:0.0 . 803;1034;972;931 E7EMM2;O14617-5;O14617;G5E988 .;.;AP3D1_HUMAN;. F 931;972;1034;840;803 ENSP00000349398:L931F;ENSP00000344055:L972F;ENSP00000347416:L1034F;ENSP00000342321:L803F ENSP00000341579:L840F L - 1 0 AP3D1 2061781 1 0.714170 9.600000e-01 0.400130 9.590000e-01 0.625250 6.290000 0.727120 2.214000 0.716950 0.491000 0.489740 CTC TCGA-HZ-8003-01A-21D-2201-08 AP3D1-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000450912.1 0 0 1 12 263 0 36 1 9.806551e-01 16 131 0 36 2 0 0 0 0 0 2 1 9.990102e-01 11 256 0 36 2 0 0 0 0 36 2 -14.320280 1 1 0 0 1 1 2 3 2.029693 0 0.160000 2 0.169304 0.580000 0.310000 1.000000 0.550000 0.628511 0.580000 0 0.430000 0.850000 ZNF134 7693 broad.mit.edu 37 19 58131705 58131705 + Missense_Mutation SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:58131705A>G ENST00000396161.5 + 3 528 c.218A>G c.(217-219)cAt>cGt p.H73R ZNF134_ENST00000597975.1_3'UTR NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) GGTACACACCATGGACTGAAA 0.488000 0 SO:0001583 missense ENST00000396161.5 0 1 hg19 CCDS42638.1 . . . . . . . . . . A 9.039000 0.989204 0.189660 . . ENSG00000213762 ENST00000418193;ENST00000396161 T 0.19394 2.15 4.050000 -1.240000 0.094350 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.11024 0.0269 N 0.21583 0.68 0.093100 N 1.000000 B 0.13594 0.008 B 0.14578 0.011 T 0.34403 -0.9830 9 0.87932 D 0 . 0.849600 0.011690 0.3547:0.262:0.0975:0.2858 . 73 P52741 ZN134_HUMAN R 140;73 ENSP00000379464:H73R ENSP00000379464:H73R H + 2 0 ZNF134 62823517 0 0.058580 0 0.037020 9.690000e-01 0.656310 -1.220000 0.029710 -0.103000 0.121750 0.533000 0.621200 CAT TCGA-HZ-8003-01A-21D-2201-08 ZNF134-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466808.1 0 0 0 13 793 0 112 0 8.698892e-02 1 27 0 112 2 0 0 0 0 0 2 1 9.994290e-01 13 769 0 112 2 0 0 0 0 112 2 -3.322656 1 1 0 0 1 0 0 0 1.944917 0 0.160000 2 0.132231 0.190000 0.100000 0.320000 0.190000 0.207953 0.190000 0 0.140000 0.260000 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 590 TCATGGAAAAAGGGATAGCTG 0.522000 0 SO:0001819 synonymous_variant ENST00000397910.4 0 1 hg19 CCDS54212.1 TCGA-HZ-8003-01A-21D-2201-08 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 0 0 0 8 583 0 67 0 0 0 0 67 2 0 0 0 0 0 2 1 9.884413e-01 7 571 0 67 2 0 0 0 0 67 2 -2.340643 0 1 0 0 1 1 2 3 2.029693 0 0.160000 2 0.169304 0.180000 0.080000 1.000000 0.170000 0.280620 0.180000 0 0.120000 0.300000 TXNIP 10628 broad.mit.edu 37 1 145440118 145440118 + Silent SNP T T A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:145440118T>A ENST00000369317.4 + 4 886 c.552T>A c.(550-552)atT>atA p.I184I TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGCTCGAATTGACAGAAAAG 0.448000 0 SO:0001819 synonymous_variant ENST00000369317.4 1 1 hg19 CCDS913.1 TCGA-HZ-8003-01A-21D-2201-08 TXNIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000038547.1 1 0 0 45 1109 0 186 1 1 136 2573 0 186 2 0 0 0 0 0 2 1 1 45 1085 0 185 2 0 0 0 0 186 2 -20.000000 1 1 0 0 1 1 2 3 2.028002 0 0.160000 2 0.169304 0.500000 0.360000 1.000000 0.490000 0.556546 0.500000 0 0.420000 0.620000 SPTA1 6708 broad.mit.edu 37 1 158631116 158631116 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:158631116G>C ENST00000368147.4 - 18 2728 c.2548C>G c.(2548-2550)Caa>Gaa p.Q850E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 307 all_hematologic(112;0.0378) GTTATCTCTTGAATGCGTGGT 0.443000 0 SO:0001583 missense ENST00000368147.4 1 1 hg19 CCDS41423.1 . . . . . . . . . . G 0.767000 -0.767128 0.029740 . . ENSG00000163554 ENST00000368148;ENST00000368147 T;T 0.30448 1.53;1.53 4.810000 3.880000 0.447660 . . . . . T 0.08223 0.0205 L 0.36672 1.1 0.093100 N 1.000000 B 0.11235 0.004 B 0.15052 0.012 T 0.32561 -0.9902 9 0.09590 T 0.72 . 10.657900 0.456860 0.0:0.0:0.5318:0.4682 . 850 P02549 SPTA1_HUMAN E 850 ENSP00000357130:Q850E;ENSP00000357129:Q850E ENSP00000357129:Q850E Q - 1 0 SPTA1 156897740 8.190000e-01 0.291750 1.200000e-02 0.152000 5.700000e-02 0.155080 2.290000 0.435310 1.197000 0.431430 0.650000 0.862430 CAA TCGA-HZ-8003-01A-21D-2201-08 SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051851.3 0 0 0 21 866 0 100 0 0 0 0 100 2 0 0 0 0 0 2 1 9.999969e-01 21 849 0 100 2 0 0 0 0 100 2 -2.596286 1 1 0 0 1 1 2 3 2.028002 0 0.160000 2 0.169304 0.310000 0.190000 1.000000 0.300000 0.387959 0.310000 0 0.240000 0.420000 ASPM 259266 broad.mit.edu 37 1 197062202 197062202 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:197062202C>T ENST00000367409.4 - 21 9530 c.9274G>A c.(9274-9276)Ggt>Agt p.G3092S ASPM_ENST00000294732.7_Missense_Mutation_p.G1507S|ASPM_ENST00000367408.1_Missense_Mutation_p.G757S NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 165 ACTAGCCAACCACGCACCAGT 0.323000 0 SO:0001583 missense ENST00000367409.4 0 1 hg19 CCDS1389.1 . . . . . . . . . . C 28.100000 4.887516 0.918140 . . ENSG00000066279 ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406 T;T;T 0.42513 0.97;0.97;0.97 5.280000 5.280000 0.743790 . 0.059343 0.64402 D 0.000004 T 0.65417 0.2689 M 0.77103 2.36 0.547530 D 0.999985 D;D;D 0.89917 1.0;1.0;0.988 D;D;P 0.79108 0.992;0.987;0.893 T 0.66787 -0.5835 10 0.46703 T 0.11 . 16.059300 0.808300 0.0:1.0:0.0:0.0 . 1078;1507;3092 E7EQ84;Q4G1H1;Q8IZT6 .;.;ASPM_HUMAN S 3092;1507;757;1078 ENSP00000356379:G3092S;ENSP00000294732:G1507S;ENSP00000356378:G757S ENSP00000294732:G1507S G - 1 0 ASPM 195328825 9.380000e-01 0.318260 1 0.803570 9.880000e-01 0.763860 1.931000 0.401340 2.447000 0.827920 0.655000 0.942530 GGT TCGA-HZ-8003-01A-21D-2201-08 ASPM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000088256.1 0 0 0 10 521 0 51 0 1.174157e-02 1 7 0 51 2 0 0 0 0 0 2 1 9.965885e-01 10 510 0 50 2 0 0 0 0 51 2 -2.891575 1 1 121404 1 28 1 1 2 3 2.018291 0 0.160000 2 0.167328 0.250000 0.120000 1.000000 0.230000 0.323779 0.250000 0 0.180000 0.370000 AVPR1B 553 broad.mit.edu 37 1 206230924 206230924 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:206230924C>A ENST00000367126.4 + 2 1522 c.1057C>A c.(1057-1059)Ctt>Att p.L353I NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CCTGCGTCACCTTGCCTGCTG 0.652000 0 SO:0001583 missense ENST00000367126.4 0 1 hg19 CCDS30994.1 . . . . . . . . . . C 15.720000 2.917594 0.525460 . . ENSG00000198049 ENST00000367126 T 0.47177 0.85 5.600000 3.680000 0.422160 . 0.625252 0.13928 N 0.353117 T 0.40119 0.1104 L 0.50333 1.59 0.093100 N 1.000000 B 0.16396 0.017 B 0.19946 0.027 T 0.32798 -0.9893 10 0.49607 T 0.09 -0.6355 6.365900 0.214550 0.1629:0.6944:0.0:0.1426 . 353 P47901 V1BR_HUMAN I 353 ENSP00000356094:L353I ENSP00000356094:L353I L + 1 0 AVPR1B 204397547 0 0.058580 1.700000e-02 0.161240 5.280000e-01 0.346230 0.400000 0.209320 1.310000 0.450060 0.563000 0.778840 CTT TCGA-HZ-8003-01A-21D-2201-08 AVPR1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087996.1 0 0 0 4 121 0 19 0 1.654263e-02 0 5 0 19 2 0 0 0 0 0 2 1 8.731115e-01 4 112 0 17 2 0 0 0 0 19 2 -7.244197 1 1 0 0 1 1 2 3 2.018291 0 0.160000 2 0.167328 0.460000 0.150000 1.000000 0.390000 0.521298 0.460000 0 0.270000 0.790000 KDM1A 23028 broad.mit.edu 37 1 23376993 23376993 + Missense_Mutation SNP C C G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:23376993C>G ENST00000356634.3 + 3 780 c.631C>G c.(631-633)Ctt>Gtt p.L211V KDM1A_ENST00000542151.1_Missense_Mutation_p.L231V|KDM1A_ENST00000400181.4_Missense_Mutation_p.L231V|RP1-184J9.2_ENST00000427154.1_RNA NM_015013.3 NP_055828.2 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 23 GAAGGTTTTTCTTTTCATTAG 0.383000 0 SO:0001583 missense ENST00000356634.3 1 1 hg19 CCDS30627.1 . . . . . . . . . . C 17.800000 3.478654 0.638490 . . ENSG00000004487 ENST00000356634;ENST00000400181;ENST00000542151 T;T;T 0.60920 0.24;0.16;0.15 5.820000 4.910000 0.643300 Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2); 0.000000 0.64402 D 0.000001 T 0.76212 0.3956 M 0.86178 2.8 0.584320 D 0.999999 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 T 0.79315 -0.1854 10 0.87932 D 0 -15.4498 9.981900 0.418190 0.0:0.8483:0.0:0.1517 . 231;211 O60341-2;O60341 .;KDM1A_HUMAN V 211;231;231 ENSP00000349049:L211V;ENSP00000383042:L231V;ENSP00000439072:L231V ENSP00000349049:L211V L + 1 0 KDM1A 23249580 1 0.714170 1 0.803570 9.950000e-01 0.863560 1.695000 0.377630 1.462000 0.479480 0.655000 0.942530 CTT TCGA-HZ-8003-01A-21D-2201-08 KDM1A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000008880.3 0 0 0 17 728 0 65 1 6.112976e-01 10 78 0 65 2 0 0 0 0 0 2 1 9.999551e-01 16 708 0 65 2 0 0 0 0 65 2 -2.909329 1 0 0 0 1 1 2 3 2.022242 0 0.160000 2 0.167987 0.300000 0.170000 1.000000 0.290000 0.369537 0.300000 0 0.230000 0.410000 LPAR3 23566 broad.mit.edu 37 1 85279808 85279808 + Silent SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr1:85279808G>A ENST00000440886.1 - 2 821 c.783C>T c.(781-783)ctC>ctT p.L261L LPAR3_ENST00000370611.3_Silent_p.L261L|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 24 TCAGGCCGTCGAGGAGCAGAA 0.582000 0 SO:0001819 synonymous_variant ENST00000440886.1 1 1 hg19 CCDS700.1 TCGA-HZ-8003-01A-21D-2201-08 LPAR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027467.1 0 0 0 18 540 0 94 0 1.599338e-01 0 21 0 94 2 0 0 0 0 0 2 1 9.999784e-01 17 529 0 94 2 0 0 0 0 94 2 -2.852309 1 1 121412 3 34 1 1 2 3 2.014679 0 0.160000 2 0.166005 0.420000 0.250000 1.000000 0.400000 0.465258 0.420000 0 0.320000 0.550000 ZNF831 128611 broad.mit.edu 37 20 57768617 57768617 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr20:57768617C>T ENST00000371030.2 + 1 2543 c.2543C>T c.(2542-2544)aCg>aTg p.T848M NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 125 all_lung(29;0.0085) GGTGGGCCCACGCAGCCTGCC 0.637000 0 SO:0001583 missense ENST00000371030.2 0 1 hg19 CCDS42894.1 . . . . . . . . . . C 6.842000 0.524657 0.130660 2.49E-4 0.0 ENSG00000124203 ENST00000371030 T 0.04654 3.58 4.910000 -9.810000 0.004870 . 2.099750 0.01863 N 0.036738 T 0.01835 0.0058 N 0.02539 -0.55 0.093100 N 1.000000 B 0.11235 0.004 B 0.04013 0.001 T 0.39941 -0.9589 10 0.31617 T 0.26 2.2937 6.154800 0.203320 0.0856:0.6705:0.0859:0.1581 . 848 Q5JPB2 ZN831_HUMAN M 848 ENSP00000360069:T848M ENSP00000360069:T848M T + 2 0 ZNF831 57202012 0 0.058580 0 0.037020 0 0.004340 -4.016000 0.003130 -2.912000 0.003070 -2.815000 0.001100 ACG TCGA-HZ-8003-01A-21D-2201-08 ZNF831-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000079916.2 0 0 0 8 448 0 76 0 1.263881e-03 0 3 0 76 2 0 0 0 0 0 2 1 9.886075e-01 8 439 0 76 2 0 0 0 0 76 2 -7.212852 1 1 120910 2 37 1 1 2 3 2.000935 0 0.160000 2 0.163347 0.230000 0.100000 1.000000 0.220000 0.272566 0.230000 0 0.160000 0.340000 CACNA1I 8911 broad.mit.edu 37 22 40075752 40075752 + Missense_Mutation SNP C C G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:40075752C>G ENST00000402142.3 + 33 5420 c.5420C>G c.(5419-5421)tCt>tGt p.S1807C CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1772C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1807C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1813C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1772C NM_021096.3 NP_066919.2 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 60 Melanoma(58;0.0749) Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909) GACAGCGTCTCTTTAATCATC 0.632000 0 SO:0001583 missense ENST00000402142.3 1 1 hg19 CCDS46710.1 . . . . . . . . . . C 21.600000 4.169998 0.784520 . . ENSG00000100346 ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164 D;D;D;D;D;D 0.98968 -5.26;-5.23;-5.14;-5.09;-5.28;-5.19 4.300000 4.300000 0.512180 . 5.708610 0.00397 N 0.000043 D 0.99211 0.9726 M 0.68952 2.095 0.525010 D 0.999956 D;D;D;D 0.89917 0.999;0.969;1.0;1.0 D;P;D;D 0.87578 0.995;0.708;0.998;0.996 D 0.94094 0.7356 10 0.72032 D 0.01 . 17.123300 0.867070 0.0:1.0:0.0:0.0 . 1772;1807;1772;1807 Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4 .;.;.;CAC1I_HUMAN C 1807;1772;1807;1772;1813;1772 ENSP00000385019:S1807C;ENSP00000384093:S1772C;ENSP00000383887:S1807C;ENSP00000385680:S1772C;ENSP00000337829:S1813C;ENSP00000383028:S1772C ENSP00000337829:S1813C S + 2 0 CACNA1I 38405698 1 0.714170 1 0.803570 7.960000e-01 0.449820 7.347000 0.793560 2.087000 0.629580 0.462000 0.415740 TCT TCGA-HZ-8003-01A-21D-2201-08 CACNA1I-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000321290.1 1 0 0 5 144 0 24 0 0 0 0 24 2 0 0 0 0 0 2 1 9.352450e-01 5 141 0 24 2 0 0 0 0 24 2 -7.910604 1 1 0 0 1 1 2 3 2.016038 0 0.160000 2 0.166667 0.470000 0.170000 1.000000 0.400000 0.524391 0.470000 0 0.290000 0.760000 TUBGCP6 85378 broad.mit.edu 37 22 50664531 50664531 + Missense_Mutation SNP T T C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr22:50664531T>C ENST00000248846.5 - 9 1885 c.1781A>G c.(1780-1782)gAc>gGc p.D594G TUBGCP6_ENST00000439308.2_Missense_Mutation_p.D594G|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) GACGTATATGTCGTGGGCAAT 0.557000 0 SO:0001583 missense ENST00000248846.5 1 1 hg19 CCDS14087.1 . . . . . . . . . . T 20.600000 4.010753 0.750460 . . ENSG00000128159 ENST00000248846;ENST00000439308 T;T 0.08807 3.05;3.05 5.040000 5.040000 0.676660 . 0.109872 0.64402 N 0.000010 T 0.26122 0.0637 L 0.61218 1.895 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.81914 0.995;0.995 T 0.00802 -1.1560 10 0.62326 D 0.03 . 14.767400 0.696480 0.0:0.0:0.0:1.0 . 594;594 B2RWN4;Q96RT7 .;GCP6_HUMAN G 594 ENSP00000248846:D594G;ENSP00000397387:D594G ENSP00000248846:D594G D - 2 0 TUBGCP6 49006658 1 0.714170 9.910000e-01 0.477400 4.350000e-01 0.318060 7.905000 0.874160 1.906000 0.551800 0.379000 0.241790 GAC TCGA-HZ-8003-01A-21D-2201-08 TUBGCP6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075004.3 0 0 0 37 1275 0 188 0 3.103281e-01 0 39 0 188 2 0 0 0 0 0 2 1 1 37 1245 0 185 2 0 0 0 0 188 2 -3.356496 1 1 0 0 1 1 2 3 2.016038 0 0.160000 2 0.166667 0.360000 0.250000 1.000000 0.360000 0.414531 0.360000 0 0.300000 0.450000 FAM179A 165186 broad.mit.edu 37 2 29274886 29274886 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr2:29274886G>A ENST00000379558.4 + 20 3338 c.2987G>A c.(2986-2988)cGc>cAc p.R996H FAM179A_ENST00000403861.2_Missense_Mutation_p.R941H|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 26 GGAGGCAGCCGCAAGGCCACT 0.557000 0 SO:0001583 missense ENST00000379558.4 0 1 hg19 CCDS1769.2 . . . . . . . . . . G 8.471000 0.857506 0.171060 . . ENSG00000189350 ENST00000379558;ENST00000403861 T;T 0.09817 3.12;2.94 5.680000 -11.400000 0.000900 . 3.053280 0.00954 N 0.003001 T 0.02929 0.0087 N 0.02011 -0.69 0.093100 N 1.000000 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.36065 -0.9763 10 0.30078 T 0.28 . 4.172000 0.103340 0.1668:0.2241:0.4866:0.1225 . 941;996 F8W8E4;Q6ZUX3 .;F179A_HUMAN H 996;941 ENSP00000368876:R996H;ENSP00000384699:R941H ENSP00000368876:R996H R + 2 0 FAM179A 29128390 0 0.058580 0 0.037020 1.200000e-02 0.079550 -1.423000 0.024500 -2.378000 0.005960 -1.904000 0.005260 CGC TCGA-HZ-8003-01A-21D-2201-08 FAM179A-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317848.4 0 0 0 6 224 0 25 0 1.035963e-03 0 2 0 25 2 0 0 0 0 0 2 1 9.620967e-01 6 217 0 24 2 0 0 0 0 25 2 -3.560838 1 1 120824 2 34 1 1 2 3 2.011563 0 0.160000 2 0.165342 0.360000 0.140000 1.000000 0.330000 0.411699 0.360000 0 0.230000 0.550000 TOMM70A 9868 broad.mit.edu 37 3 100092471 100092471 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:100092471G>C ENST00000284320.5 - 8 1694 c.1246C>G c.(1246-1248)Caa>Gaa p.Q416E NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 32 TCTTCAACTTGATCAAGGAGT 0.358000 0 SO:0001583 missense ENST00000284320.5 0 1 hg19 CCDS33807.1 . . . . . . . . . . G 24.200000 4.509968 0.852820 . . ENSG00000154174 ENST00000284320;ENST00000544924 T 0.53423 0.62 5.890000 5.890000 0.947940 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.049763 0.85682 D 0.000000 T 0.29223 0.0727 N 0.10645 0.015 0.807220 D 1.000000 B 0.26258 0.145 B 0.26693 0.072 T 0.20338 -1.0278 10 0.05620 T 0.96 -6.0465 20.257600 0.984300 0.0:0.0:1.0:0.0 . 416 O94826 TOM70_HUMAN E 416;309 ENSP00000284320:Q416E ENSP00000284320:Q416E Q - 1 0 TOMM70A 101575161 1 0.714170 1 0.803570 9.960000e-01 0.888480 8.907000 0.926340 2.783000 0.957690 0.655000 0.942530 CAA TCGA-HZ-8003-01A-21D-2201-08 TOMM70A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353141.2 0 0 0 9 526 0 45 1 5.258431e-01 4 94 0 45 2 0 0 0 0 0 2 1 9.934438e-01 9 511 0 45 2 0 0 0 0 45 2 -4.721776 1 1 0 0 1 0 1 1 1.990029 0 0.160000 2 0.154589 0.210000 0.100000 0.380000 0.210000 0.228924 0.210000 0 0.150000 0.300000 SLC12A8 84561 broad.mit.edu 37 3 124826478 124826478 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:124826478C>T ENST00000393469.4 - 9 1601 c.1552G>A c.(1552-1554)Gag>Aag p.E518K SLC12A8_ENST00000430155.2_Missense_Mutation_p.E319K|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E271K|SLC12A8_ENST00000423114.2_Missense_Mutation_p.E547K|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E518K|SLC12A8_ENST00000465475.1_5'UTR NM_001195483.1 NP_001182412 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 16 TCAGAGATCTCGACAGGGAAA 0.552000 0 SO:0001583 missense ENST00000393469.4 0 1 hg19 CCDS43143.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 10.970000 1.501163 0.268610 0.0 9.49E-4 ENSG00000221955 ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584 D;D;D;D;T 0.88509 -1.89;-2.37;-2.39;-2.37;-1.45 4.850000 0.905000 0.193070 . . . . . T 0.79747 0.4499 L 0.50333 1.59 0.093100 N 1.000000 P;B;B;P 0.44521 0.837;0.051;0.05;0.466 B;B;B;B 0.34418 0.182;0.007;0.003;0.029 T 0.68269 -0.5453 9 0.32370 T 0.25 . 3.209800 0.066780 0.1205:0.5474:0.1174:0.2147 . 271;547;518;319 A0AV02-4;A0AV02-2;A0AV02;A0AV02-3 .;.;S12A8_HUMAN;. K 319;518;547;518;271 ENSP00000415713:E319K;ENSP00000377112:E518K;ENSP00000404243:E547K;ENSP00000418783:E518K;ENSP00000323632:E271K ENSP00000323632:E271K E - 1 0 SLC12A8 126309168 0 0.058580 0 0.037020 0 0.004340 0.118000 0.156050 0.234000 0.211390 -0.181000 0.130520 GAG TCGA-HZ-8003-01A-21D-2201-08 SLC12A8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355711.4 0 0 0 14 671 0 99 0 4.080279e-01 1 64 0 99 2 0 0 0 0 0 2 1 9.996984e-01 14 654 0 98 2 0 0 0 0 99 2 -2.617480 1 1 120994 189 56 1 0 1 1 1.990029 0 0.160000 2 0.154589 0.250000 0.140000 0.410000 0.250000 0.269017 0.250000 0 0.190000 0.330000 IFT122 55764 broad.mit.edu 37 3 129214429 129214429 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr3:129214429C>T ENST00000348417.2 + 18 2264 c.2187C>T c.(2185-2187)ctC>ctT p.L729L IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000431818.2_Silent_p.L579L|IFT122_ENST00000347300.2_Silent_p.L670L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000504021.1_Silent_p.L605L|IFT122_ENST00000296266.3_Silent_p.L780L|IFT122_ENST00000513932.1_3'UTR NM_052989.1 NP_443715.1 Q9HBG6 IF122_HUMAN intraflagellar transport 122 52 ACACCGACCTCTGCATGTTTG 0.537000 0 SO:0001819 synonymous_variant ENST00000348417.2 1 1 hg19 CCDS3061.1 TCGA-HZ-8003-01A-21D-2201-08 IFT122-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000355852.1 0 0 0 16 476 0 77 0 2.005059e-01 0 24 0 77 2 0 0 0 0 0 2 1 9.999179e-01 15 464 0 77 2 0 0 0 0 77 2 -14.589920 1 1 0 0 1 0 1 1 1.990029 0 0.160000 2 0.154589 0.400000 0.240000 0.620000 0.400000 0.422668 0.400000 0 0.310000 0.520000 FAM13A 10144 broad.mit.edu 37 4 89950680 89950680 + Missense_Mutation SNP G G A rs114435452 byFrequency TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr4:89950680G>A ENST00000264344.5 - 2 355 c.148C>T c.(148-150)Cgg>Tgg p.R50W FAM13A_ENST00000509094.1_Missense_Mutation_p.R50W|FAM13A_ENST00000511976.1_De_novo_Start_InFrame|FAM13A_ENST00000515600.1_Missense_Mutation_p.R50W|FAM13A_ENST00000502459.1_5'UTR NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 55 AGCCCCTGCCGTTCAAGTTCT 0.418000 0 SO:0001583 missense ENST00000264344.5 1 1 hg19 CCDS34029.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 15.850000 2.955573 0.532930 0.002724 0.0 ENSG00000138640 ENST00000264344;ENST00000509094;ENST00000515600;ENST00000506913 T;T;T;T 0.44083 0.93;0.93;0.93;0.93 4.120000 3.280000 0.376040 Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1); 0.769691 0.11970 N 0.511820 T 0.42765 0.1217 M 0.68317 2.08 0.271300 N 0.961917 D;P 0.62365 0.991;0.482 P;B 0.44860 0.462;0.007 T 0.35943 -0.9768 9 . . . . 7.720000 0.287270 0.085:0.0:0.7527:0.1623 . 50;50 Q6P521;O94988 .;FA13A_HUMAN W 50;50;50;60 ENSP00000264344:R50W;ENSP00000426517:R50W;ENSP00000422345:R50W;ENSP00000421269:R60W . R - 1 2 FAM13A 90169703 9.530000e-01 0.324960 2.500000e-01 0.242960 1.800000e-02 0.096640 2.839000 0.482070 1.323000 0.452630 0.655000 0.942530 CGG TCGA-HZ-8003-01A-21D-2201-08 FAM13A-022 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363371.1 0 0 0 26 1066 0 127 1 1.874882e-01 4 28 0 127 2 0 0 0 0 0 2 1 9.999998e-01 26 1024 0 123 2 0 0 0 0 127 2 -2.338131 0 1 121412 28 49 1 1 2 3 2.019137 0 0.160000 2 0.167328 0.300000 0.200000 1.000000 0.300000 0.371148 0.300000 0 0.240000 0.400000 TNFAIP8 25816 broad.mit.edu 37 5 118728611 118728611 + Missense_Mutation SNP C C A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:118728611C>A ENST00000503646.1 + 3 820 c.132C>A c.(130-132)gaC>gaA p.D44E TNFAIP8_ENST00000504771.2_Missense_Mutation_p.D44E|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.D34E|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.D56E|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.D46E|TNFAIP8_ENST00000415806.2_3'UTR O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 p.D44D(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) CCTTAATAGACGACACAAGTA 0.463000 1 Substitution - coding silent(1) SO:0001583 missense ENST00000503646.1 0 1 hg19 CCDS47258.1 . . . . . . . . . . C 19.810000 3.895834 0.726390 . . ENSG00000145779 ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642 T;T;T;T;T;T 0.50548 0.74;0.74;0.74;0.74;0.74;0.74 5.800000 -11.600000 0.000590 . 0.000000 0.64402 D 0.000001 T 0.65302 0.2678 M 0.84846 2.72 0.807220 D 1.000000 D;D;P;D 0.71674 0.998;0.998;0.916;0.998 D;D;P;D 0.74674 0.983;0.984;0.86;0.984 D 0.87529 0.2451 10 0.87932 D 0 -7.2509 21.111100 0.999460 0.0:0.6774:0.0:0.3226 . 56;44;34;44 B7Z713;O95379;O95379-3;B3KUI2 .;TFIP8_HUMAN;.;. E 34;12;56;44;44;46 ENSP00000274456:D34E;ENSP00000429432:D12E;ENSP00000427424:D56E;ENSP00000422245:D44E;ENSP00000421848:D44E;ENSP00000427160:D46E ENSP00000274456:D34E D + 3 2 TNFAIP8 118756510 3.800000e-02 0.198960 5.800000e-02 0.195020 9.510000e-01 0.605550 -0.645000 0.054090 -2.668000 0.004150 -1.021000 0.024390 GAC TCGA-HZ-8003-01A-21D-2201-08 TNFAIP8-002 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000371134.2 0 0 0 3 97 0 15 0 5.869944e-01 0 56 0 15 2 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 15 2 -6.074774 1 0 0 0 1 0 0 0 1.965978 0 0.160000 2 0.142157 0.410000 0.120000 0.910000 1.000000 0.448704 0.410000 0 0.230000 0.650000 SLC45A2 51151 broad.mit.edu 37 5 33947401 33947401 + Missense_Mutation SNP G G A rs149980670 TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr5:33947401G>A ENST00000296589.4 - 6 1381 c.1235C>T c.(1234-1236)aCg>aTg p.T412M SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000382102.3_Missense_Mutation_p.T412M NM_016180.3 NP_057264 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 p.T412M(1) 48 AATAAATCCCGTCCCCAGGCC 0.488000 Ovarian(31;380 859 8490 22203 49048) 1 Substitution - Missense(1) SO:0001583 missense ENST00000296589.4 1 1 hg19 CCDS3901.1 . . . . . . . . . . G 29.200000 4.988904 0.931060 0.0 1.16E-4 ENSG00000164175 ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600 D;D;D;D 0.90197 -2.63;-2.63;-2.63;-2.63 5.620000 5.620000 0.858410 Major facilitator superfamily domain, general substrate transporter (1); 0.000000 0.85682 D 0.000000 D 0.91872 0.7427 L 0.39020 1.185 0.807220 D 1.000000 D;P 0.89917 1.0;0.622 D;P 0.85130 0.997;0.466 D 0.86327 0.1696 10 0.02654 T 1 -12.7534 19.644500 0.957710 0.0:0.0:1.0:0.0 . 412;412 Q9UMX9-4;Q9UMX9 .;S45A2_HUMAN M 412;353;412;237 ENSP00000296589:T412M;ENSP00000341014:T353M;ENSP00000371534:T412M;ENSP00000424010:T237M ENSP00000296589:T412M T - 2 0 SLC45A2 33983158 1 0.714170 9.580000e-01 0.397560 9.640000e-01 0.639670 9.519000 0.980250 2.646000 0.897960 0.655000 0.942530 ACG TCGA-HZ-8003-01A-21D-2201-08 SLC45A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207443.2 1 0 0 39 915 0 168 0 0 0 0 168 2 0 0 0 0 0 2 1 1 37 878 0 167 2 0 0 0 0 168 2 -4.197817 1 1 121412 6 41 1 0 0 0 1.965978 0 0.160000 2 0.142157 0.490000 0.360000 0.660000 0.500000 0.508898 0.490000 0 0.420000 0.580000 LAMA4 3910 broad.mit.edu 37 6 112486440 112486440 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:112486440C>T ENST00000230538.7 - 13 1987 c.1590G>A c.(1588-1590)gtG>gtA p.V530V RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.V523V|LAMA4_ENST00000424408.2_Silent_p.V523V|LAMA4_ENST00000389463.4_Silent_p.V523V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) GAGACATGTTCACCACTTCCA 0.453000 0 SO:0001819 synonymous_variant ENST00000230538.7 0 1 hg19 CCDS43491.1 TCGA-HZ-8003-01A-21D-2201-08 LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041876.2 0 0 0 12 557 0 59 1 4.917015e-01 2 72 0 59 2 0 0 0 0 0 2 1 9.989747e-01 12 542 0 59 2 0 0 0 0 59 2 -2.979484 1 1 0 0 1 0 1 1 1.994194 0 0.160000 2 0.155270 0.260000 0.140000 0.430000 0.260000 0.280293 0.260000 0 0.190000 0.350000 TULP4 56995 broad.mit.edu 37 6 158924700 158924700 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:158924700G>C ENST00000367097.3 + 13 5362 c.4005G>C c.(4003-4005)aaG>aaC p.K1335N TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) AATTTGGAAAGAAGAACCGGA 0.537000 0 SO:0001583 missense ENST00000367097.3 1 1 hg19 CCDS34561.1 . . . . . . . . . . G 17.640000 3.440322 0.630670 . . ENSG00000130338 ENST00000367097 T 0.70869 -0.52 5.700000 4.840000 0.625910 . 0.000000 0.85682 D 0.000000 T 0.76492 0.3995 M 0.65498 2.005 0.807220 D 1.000000 D 0.76494 0.999 D 0.83275 0.996 T 0.80020 -0.1557 10 0.66056 D 0.02 -27.8828 11.689900 0.515100 0.1417:0.0:0.8583:0.0 . 1335 Q9NRJ4 TULP4_HUMAN N 1335 ENSP00000356064:K1335N ENSP00000356064:K1335N K + 3 2 TULP4 158844688 1 0.714170 1 0.803570 9.980000e-01 0.957120 3.612000 0.541420 1.425000 0.472370 0.561000 0.740990 AAG TCGA-HZ-8003-01A-21D-2201-08 TULP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042869.1 0 0 0 13 395 0 68 1 1.273413e-01 2 16 0 68 2 0 0 0 0 0 2 1 9.995039e-01 13 389 0 66 2 0 0 0 0 68 2 -12.964460 1 1 0 0 1 0 1 1 1.994194 0 0.160000 2 0.155270 0.400000 0.220000 0.640000 0.390000 0.418791 0.400000 0 0.300000 0.520000 EZR 7430 broad.mit.edu 37 6 159197482 159197482 + Silent SNP A A G TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:159197482A>G ENST00000367075.3 - 8 921 c.753T>C c.(751-753)aaT>aaC p.N251N EZR_ENST00000337147.7_Silent_p.N251N|EZR_ENST00000392177.4_Silent_p.N219N NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin EZR/ROS1(4) 15 Breast(66;0.000776)|Ovarian(120;0.0303) ACTTTTTGTCATTGAAAGAGA 0.378000 T ROS1 NSCLC Dom yes 6 6q25.3 7430 ezrin E 0 SO:0001819 synonymous_variant ENST00000367075.3 1 1 hg19 CCDS5258.1 TCGA-HZ-8003-01A-21D-2201-08 EZR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042878.1 0 0 0 21 590 0 73 1 9.999879e-01 143 379 0 73 2 0 0 0 0 0 2 1 9.999974e-01 21 586 0 73 2 0 0 0 0 73 2 -3.969924 1 1 0 0 1 0 1 1 1.994194 0 0.160000 2 0.155270 0.420000 0.270000 0.620000 0.420000 0.442135 0.420000 0 0.340000 0.530000 TAP2 6891 broad.mit.edu 37 6 32800563 32800563 + Silent SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:32800563C>T ENST00000452392.2 - 6 1157 c.984G>A c.(982-984)gcG>gcA p.A328A TAP2_ENST00000374899.4_Silent_p.A328A|TAP2_ENST00000374897.2_Silent_p.A328A|TAP2_ENST00000485701.1_5'Flank Q9UDX4 S14L3_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) p.A328A(1) Vitamin E(DB00163) CCACCTGCCCCGCCCTGGCCA 0.592000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000452392.2 0 1 hg19 TCGA-HZ-8003-01A-21D-2201-08 TAP2-001 NOVEL mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf protein_coding protein_coding OTTHUMT00000361828.1 0 0 1 8 525 0 85 1 6.131055e-01 32 97 0 85 2 0 0 0 0 0 2 1 9.875971e-01 8 504 0 85 2 0 0 0 0 85 2 -2.909339 1 0 117964 2 35 1 0 4 4 1.939375 1 0.160000 2 0.275862 0.220000 0.100000 0.410000 0.210000 0.242730 0.220000 0 0.150000 0.320000 MDN1 23195 broad.mit.edu 37 6 90448153 90448153 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:90448153G>A ENST00000369393.3 - 33 4730 c.4615C>T c.(4615-4617)Cgg>Tgg p.R1539W MDN1_ENST00000428876.1_Missense_Mutation_p.R1539W Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) TCTGTAAACCGGTTTCTTAAG 0.378000 0 SO:0001583 missense ENST00000369393.3 1 1 hg19 CCDS5024.1 . . . . . . . . . . G 16.490000 3.138698 0.569360 . . ENSG00000112159 ENST00000369393;ENST00000428876 T;T 0.73897 -0.79;-0.79 5.620000 3.620000 0.414860 ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1); 0.063133 0.64402 D 0.000010 D 0.89238 0.6658 H 0.99573 4.635 0.584320 D 0.999999 D 0.89917 1.0 D 0.97110 1.0 D 0.90061 0.4156 10 0.87932 D 0 . 7.777400 0.290460 0.0:0.1127:0.487:0.4003 . 1539 Q9NU22 MDN1_HUMAN W 1539 ENSP00000358400:R1539W;ENSP00000413970:R1539W ENSP00000358400:R1539W R - 1 2 MDN1 90504874 1 0.714170 1 0.803570 9.960000e-01 0.888480 3.095000 0.502350 1.340000 0.455810 0.557000 0.710580 CGG TCGA-HZ-8003-01A-21D-2201-08 MDN1-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041514.2 0 0 0 13 502 0 75 0 7.042861e-02 0 16 0 75 2 0 0 0 0 0 2 1 9.994447e-01 13 488 0 75 2 0 0 0 0 75 2 -2.911896 1 1 0 0 1 0 1 1 1.994194 0 0.160000 2 0.155270 0.310000 0.170000 0.510000 0.310000 0.333047 0.310000 0 0.240000 0.420000 POU3F2 5454 broad.mit.edu 37 6 99283224 99283224 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr6:99283224G>A ENST00000328345.5 + 1 645 c.475G>A c.(475-477)Gct>Act p.A159T NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) GCACCACGCCGCTAACCACCA 0.682000 0 SO:0001583 missense ENST00000328345.5 0 1 hg19 CCDS5040.1 . . . . . . . . . . G 7.400000 0.632659 0.143220 . . ENSG00000184486 ENST00000328345;ENST00000425116 T 0.41400 1.0 3.240000 2.360000 0.292030 . 1.037200 0.07655 U 0.932722 T 0.04407 0.0121 N 0.02539 -0.55 0.309990 N 0.720528 B 0.10296 0.003 B 0.04013 0.001 T 0.37407 -0.9707 10 0.07030 T 0.85 . 4.651600 0.125980 0.1309:0.227:0.6422:0.0 . 159 P20265 PO3F2_HUMAN T 159;140 ENSP00000329170:A159T ENSP00000329170:A159T A + 1 0 POU3F2 99389945 1 0.714170 9.990000e-01 0.593770 6.830000e-01 0.398610 1.454000 0.351780 0.707000 0.319340 0.184000 0.171850 GCT TCGA-HZ-8003-01A-21D-2201-08 POU3F2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041586.2 0 0 0 3 27 0 8 0 0 0 0 8 2 0 0 0 1 0 0 2 1 7.775120e-01 3 24 0 8 2 0 0 0 0 8 2 -9.626226 1 1 0 0 1 0 1 1 1.994194 0 0.160000 2 0.155270 0.990000 0.360000 1.000000 1.000000 0.890399 0.990000 1 0.680000 1.000000 C7orf10 0 broad.mit.edu 37 7 40899974 40899974 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr7:40899974G>A ENST00000335693.4 + 14 1257 c.1234G>A c.(1234-1236)Ggg>Agg p.G412R C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000309930.5_Missense_Mutation_p.G438R|C7orf10_ENST00000464028.1_3'UTR NM_001193313.1 NP_001180242.1 Q9HAC7 SUCHY_HUMAN 18 CCCGCTGCTCGGGCAGCACAC 0.567000 0 SO:0001583 missense ENST00000335693.4 1 1 hg19 CCDS55105.1 . . . . . . . . . . G 25.400000 4.637058 0.877600 . . ENSG00000175600 ENST00000309930;ENST00000401647;ENST00000335693 D;T;T 0.96396 -4.0;-1.11;-1.11 5.510000 5.510000 0.819320 CoA-transferase family III domain (1); 0.275863 0.34484 N 0.003935 D 0.98689 0.9560 M 0.93594 3.435 0.807220 D 1.000000 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.85130 0.997;0.994;0.997 D 0.99593 1.0976 10 0.87932 D 0 -10.9205 18.988400 0.927820 0.0:0.0:1.0:0.0 . 364;412;401 Q4KMW8;Q9HAC7;Q9HAC7-2 .;CG010_HUMAN;. R 438;364;412 ENSP00000312054:G438R;ENSP00000385222:G364R;ENSP00000338475:G412R ENSP00000312054:G438R G + 1 0 C7orf10 40866499 1 0.714170 9.880000e-01 0.462120 8.580000e-01 0.489760 6.455000 0.734970 2.575000 0.869000 0.655000 0.942530 GGG TCGA-HZ-8003-01A-21D-2201-08 C7orf10-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000338388.1 0 0 0 28 1136 0 154 0 5.587676e-01 1 75 0 154 2 0 0 0 0 0 2 1 1 28 1109 0 152 2 0 0 0 0 154 2 -2.107909 0 1 121084 1 34 1 1 2 3 2.011485 0 0.160000 2 0.165342 0.300000 0.200000 1.000000 0.310000 0.355818 0.300000 0 0.250000 0.390000 TRPS1 7227 broad.mit.edu 37 8 116430660 116430660 + Silent SNP A A T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:116430660A>T ENST00000220888.5 - 5 2841 c.2682T>A c.(2680-2682)gtT>gtA p.V894V TRPS1_ENST00000520276.1_Silent_p.V898V|TRPS1_ENST00000519076.1_Silent_p.V648V|TRPS1_ENST00000395715.3_Silent_p.V907V Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGGCACAAAAAACACCGGAGC 0.488000 Langer-Giedion syndrome 0 SO:0001819 synonymous_variant Familial Cancer Database Trichorhinophalangeal syndrome type 2, TRPS II ENST00000220888.5 1 1 hg19 . . . . . . . . . . A 5.146000 0.212445 0.097570 . . ENSG00000104447 ENST00000518018 . . . 5.810000 3.300000 0.378230 . . . . . T 0.56217 0.1970 . . . 0.807220 D 1.000000 . . . . . . T 0.51529 -0.8694 4 . . . . 7.591900 0.280250 0.8057:0.0:0.0684:0.1259 . . . . I 19 . . F - 1 0 TRPS1 116499836 1 0.714170 1 0.803570 9.980000e-01 0.957120 1.219000 0.324790 1.027000 0.397580 0.528000 0.532280 TTT TCGA-HZ-8003-01A-21D-2201-08 TRPS1-002 KNOWN basic protein_coding protein_coding OTTHUMT00000286436.3 0 0 0 30 835 0 129 0 2.437657e-02 0 7 0 129 2 0 0 0 0 0 2 1 1 29 822 0 128 2 0 0 0 0 129 2 -20.000000 1 1 0 0 1 1 2 3 2.019161 0 0.160000 2 0.167328 0.440000 0.300000 1.000000 0.440000 0.497316 0.440000 0 0.360000 0.570000 IMPAD1 54928 broad.mit.edu 37 8 57905955 57905955 + Missense_Mutation SNP G G C TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:57905955G>C ENST00000262644.4 - 1 448 c.190C>G c.(190-192)Cgc>Ggc p.R64G NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) AGCATCTCGCGCAAGTCCACG 0.741000 0 SO:0001583 missense ENST00000262644.4 1 1 hg19 CCDS6169.1 . . . . . . . . . . G 15.390000 2.819807 0.506330 . . ENSG00000104331 ENST00000262644 T 0.52983 0.64 5.050000 4.120000 0.482400 . 0.000000 0.85682 D 0.000000 T 0.63319 0.2501 M 0.79011 2.435 0.807220 D 1.000000 D 0.76494 0.999 D 0.74023 0.982 T 0.61898 -0.6968 10 0.37606 T 0.19 -0.0018 6.972700 0.246580 0.0931:0.0:0.7402:0.1667 . 64 Q9NX62 IMPA3_HUMAN G 64 ENSP00000262644:R64G ENSP00000262644:R64G R - 1 0 IMPAD1 58068509 1 0.714170 1 0.803570 9.000000e-03 0.068530 3.892000 0.562350 1.023000 0.396540 -0.378000 0.069080 CGC TCGA-HZ-8003-01A-21D-2201-08 IMPAD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378665.1 1 0 0 7 185 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 9.781028e-01 7 177 0 36 2 0 0 0 0 36 2 -9.020743 1 1 119742 1 30 1 1 2 3 2.019161 0 0.160000 2 0.167328 0.500000 0.220000 1.000000 0.450000 0.549666 0.500000 0 0.330000 0.770000 TRPA1 8989 broad.mit.edu 37 8 72969219 72969219 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr8:72969219C>T ENST00000262209.4 - 10 1334 c.1127G>A c.(1126-1128)cGt>cAt p.R376H NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 98 Epithelial(68;0.223) Menthol(DB00825) CAGAAAATTACGTCCAAAATT 0.299000 0 SO:0001583 missense ENST00000262209.4 0 1 hg19 CCDS34908.1 . . . . . . . . . . C 19.610000 3.860578 0.718340 . . ENSG00000104321 ENST00000523582;ENST00000262209 T;T 0.54479 0.57;2.37 5.690000 5.690000 0.884480 Ankyrin repeat-containing domain (3); 0.048019 0.85682 D 0.000000 T 0.53126 0.1777 M 0.62723 1.935 0.584320 D 0.999997 B 0.18310 0.027 B 0.17098 0.017 T 0.47983 -0.9074 10 0.21014 T 0.42 -18.244 19.805100 0.965290 0.0:1.0:0.0:0.0 . 376 O75762 TRPA1_HUMAN H 228;376 ENSP00000428151:R228H;ENSP00000262209:R376H ENSP00000262209:R376H R - 2 0 TRPA1 73131773 1 0.714170 1 0.803570 9.890000e-01 0.773840 6.639000 0.743140 2.691000 0.918040 0.585000 0.799380 CGT TCGA-HZ-8003-01A-21D-2201-08 TRPA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379079.2 0 0 0 7 248 0 18 0 0 0 1 0 18 2 0 0 0 0 0 2 1 9.796174e-01 7 243 0 18 2 0 0 0 0 18 2 -3.316146 1 1 121318 2 35 1 1 2 3 2.019161 0 0.160000 2 0.167328 0.380000 0.160000 1.000000 0.340000 0.439551 0.380000 0 0.250000 0.590000 WDR34 89891 broad.mit.edu 37 9 131403176 131403176 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chr9:131403176C>T ENST00000372715.2 - 2 289 c.229G>A c.(229-231)Gcc>Acc p.A77T NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 9 CTGGCCTGGGCGGATGCACTG 0.652000 0 SO:0001583 missense ENST00000372715.2 1 1 hg19 CCDS6906.2 . . . . . . . . . . C 6.909000 0.537276 0.131880 . . ENSG00000119333 ENST00000372715;ENST00000451652;ENST00000419989 T 0.61980 0.06 5.400000 -3.500000 0.047100 . 1.250360 0.05511 N 0.560229 T 0.42653 0.1212 L 0.37630 1.12 0.093100 N 1.000000 B;B 0.13594 0.003;0.008 B;B 0.06405 0.002;0.002 T 0.28650 -1.0037 10 0.06365 T 0.9 . 5.496400 0.168050 0.2163:0.3838:0.0:0.3999 . 62;77 A2A3F8;Q96EX3 .;WDR34_HUMAN T 77;68;62 ENSP00000361800:A77T ENSP00000361800:A77T A - 1 0 WDR34 130442997 0 0.058580 0 0.037020 1.000000e-02 0.072450 -0.250000 0.088300 -0.472000 0.068810 -0.140000 0.142260 GCC TCGA-HZ-8003-01A-21D-2201-08 WDR34-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054463.1 0 0 0 12 434 0 80 1 5.253209e-01 3 59 0 80 2 0 0 0 0 0 2 1 9.990527e-01 12 427 0 79 2 0 0 0 0 80 2 -3.065521 1 1 121404 1 28 1 0 1 1 1.989337 0 0.160000 2 0.154589 0.340000 0.180000 0.550000 0.330000 0.355993 0.340000 0 0.250000 0.450000 MAP7D3 79649 broad.mit.edu 37 X 135313711 135313711 + Missense_Mutation SNP C C T TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:135313711C>T ENST00000316077.9 - 8 1625 c.1405G>A c.(1405-1407)Gct>Act p.A469T MAP7D3_ENST00000370663.5_Missense_Mutation_p.A451T|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.A434T NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 44 Acute lymphoblastic leukemia(192;0.000127) ACCTTTGGAGCGTCTCTCGCT 0.428000 0 SO:0001583 missense ENST00000316077.9 1 1 hg19 CCDS44004.1 . . . . . . . . . . C 3.209000 -0.161936 0.065020 . . ENSG00000129680 ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660 T;T;T;T 0.04194 4.42;3.85;3.85;3.68 4.330000 -7.090000 0.015530 . 1.863520 0.03468 N 0.213251 T 0.02533 0.0077 N 0.22421 0.69 0.093100 N 1.000000 B;B;B;B 0.28971 0.079;0.128;0.079;0.229 B;B;B;B 0.15870 0.011;0.011;0.011;0.014 T 0.35968 -0.9767 10 0.35671 T 0.21 -3.1947 1.110900 0.017040 0.2367:0.3632:0.1659:0.2342 . 451;428;469;434 B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3 .;.;MA7D3_HUMAN;. T 434;469;451;428 ENSP00000359695:A434T;ENSP00000318086:A469T;ENSP00000359697:A451T;ENSP00000359694:A428T ENSP00000318086:A469T A - 1 0 MAP7D3 135141377 0 0.058580 0 0.037020 1.000000e-03 0.015030 -0.359000 0.076320 -1.469000 0.018900 -1.699000 0.007220 GCT TCGA-HZ-8003-01A-21D-2201-08 MAP7D3-001 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058487.2 0 0 0 36 1096 0 133 0 1.059057e-01 0 17 0 133 2 0 0 0 0 0 2 1 1 34 1087 0 132 2 0 0 0 0 133 2 -2.823140 1 1 0 0 1 0 1 1 0.160000 2 0.160000 0.390000 0.280000 0.530000 0.400000 0.405947 0.390000 0 0.330000 0.470000 TFE3 7030 broad.mit.edu 37 X 48887764 48887764 + Missense_Mutation SNP G G A TCGA-HZ-8003-01A-21D-2201-08 TCGA-HZ-8003-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx f024977e-2d5d-4205-937d-3c832da05272 7601f464-a2b6-4fda-9887-9419efd30388 g.chrX:48887764G>A ENST00000315869.7 - 10 1892 c.1633C>T c.(1633-1635)Cgg>Tgg p.R545W TFE3_ENST00000487451.1_5'Flank NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) 1 GAGGCAGCCCGCAGTGGGGAC 0.662000 T SFPQ, ASPSCR1, PRCC, NONO, CLTC papillary renal, alveolar soft part sarcoma, renal Dom yes X Xp11.22 7030 transcription factor binding to IGHM enhancer 3 E 0 SO:0001583 missense ENST00000315869.7 0 1 hg19 CCDS14315.3 . . . . . . . . . . G 15.840000 2.952187 0.532930 . . ENSG00000068323 ENST00000315869 T 0.16073 2.37 5.410000 3.530000 0.404190 . 0.217637 0.23213 U 0.050656 T 0.09818 0.0241 N 0.14661 0.345 0.414780 D 0.988141 B 0.18310 0.027 B 0.13407 0.009 T 0.09952 -1.0651 10 0.66056 D 0.02 -17.8225 7.768500 0.289930 0.0904:0.2819:0.6277:0.0 . 545 P19532 TFE3_HUMAN W 545 ENSP00000314129:R545W ENSP00000314129:R545W R - 1 2 TFE3 48774708 9.990000e-01 0.422020 9.990000e-01 0.593770 6.830000e-01 0.398610 3.116000 0.503990 1.058000 0.405300 0.509000 0.499470 CGG TCGA-HZ-8003-01A-21D-2201-08 TFE3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058872.2 0 0 0 5 271 0 53 0 3.525805e-01 0 58 0 53 2 0 0 0 0 0 2 1 9.212167e-01 5 247 0 52 2 0 0 0 0 53 2 -4.012331 1 0 0 0 1 0 1 1 0.160000 2 0.160000 0.240000 0.090000 0.490000 0.220000 0.264656 0.240000 0 0.150000 0.360000