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 SLC4A1 6521 broad.mit.edu 37 17 42330701 42330701 + Frame_Shift_Del DEL C C - TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr17:42330701delC ENST00000262418.6 - 17 2251 c.2096delG c.(2095-2097)ggcfs p.G699fs NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 40 Breast(137;0.014)|Prostate(33;0.0181) GAAGCCGGAGCCCTTGACCAT 0.637000 0 SO:0001589 frameshift_variant ENST00000262418.6 1 0 hg19 CCDS11481.1 TCGA-HZ-8315-01A-11D-2396-08 SLC4A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346194.1 1 0 0 40 295 0 63 0 0 0 63 0 0 0 0 1 0.928932 49 293 3 65 30 0 0 0 0 0 0 -20.000000 1 1 0 0 1 1 2 3 2.028634 0 0.270000 1.940000 0.273921 0.890000 0.650000 1.000000 1.000000 0.884479 0.890000 1 7.600000e-01 1 ARID1A 8289 broad.mit.edu 37 1 27058070 27058070 + Frame_Shift_Del DEL C C - TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C - C C Valid Somatic Phase_I WXS targeted Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:27058070delC ENST00000324856.7 + 3 2149 c.1778delC c.(1777-1779)tccfs p.S593fs ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S210fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S593fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) ARID1A/MAST2_ENST00000361297(2) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) ACTGCCTATTCCCAGCAGCGC 0.587000 Mis, N, F, S, D clear cell ovarian carcinoma, RCC Rec yes 1 1p35.3 8289 AT rich interactive domain 1A (SWI-like) E 0 SO:0001589 frameshift_variant ENST00000324856.7 1 0 hg19 CCDS285.1 TCGA-HZ-8315-01A-11D-2396-08 ARID1A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000011437.2 1 0 0 113 953 0 160 1 9.953671e-01 4 65 0 160 2 1 1 85 643 0 539 2 1 0.999990 143 946 6 156 62 0 0 0 0 0 0 -3.318794 1 1 0 0 1 1 2 3 2.037843 0 0.270000 1.940000 0.275865 0.790000 0.650000 1.000000 0.790000 0.804669 0.790000 0 7.200000e-01 8.800000e-01 ACVR2A 92 broad.mit.edu 37 2 148657137 148657138 + Splice_Site INS - - T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 - T - - Valid Somatic Phase_I WXS targeted Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr2:148657137_148657138insT ENST00000241416.7 + 3 1009 c.e3+1 ACVR2A_ENST00000404590.1_Splice_Site|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Splice_Site NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 45 GTCACACAGCGTAAGTTCACAG 0.366000 0 SO:0001630 splice_region_variant ENST00000241416.7 0 1 hg19 CCDS33301.1 TCGA-HZ-8315-01A-11D-2396-08 ACVR2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319051.1 1 0 0 157 1257 0 227 0 8.722748e-01 0 31 0 227 2 1 1 51 388 0 272 2 1 1.000000 158 1241 0 222 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 1 2 3 2.018485 0 0.270000 1.940000 0.270984 0.810000 0.700000 0.950000 0.820000 0.825991 0.810000 0 7.500000e-01 8.900000e-01 SLC22A7 10864 broad.mit.edu 37 6 43269953 43269955 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr6:43269953_43269955delCTC ENST00000372585.5 + 8 1172_1174 c.1077_1079delCTC c.(1075-1080)ttctcc>ttc p.S360del SLC22A7_ENST00000372589.3_In_Frame_Del_p.S358del|SLC22A7_ENST00000372574.3_In_Frame_Del_p.S358del NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495) GAGTGAACTTCTCCTATTACGGC 0.562000 0 SO:0001651 inframe_deletion ENST00000372585.5 0 1 hg19 CCDS4893.2 TCGA-HZ-8315-01A-11D-2396-08 SLC22A7-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000040588.1 1 0 0 36 322 0 69 0 0 0 69 0 0 0 0 1 0.998276 48 332 1 71 18 0 0 0 0 0 0 -13.052940 1 1 0 0 1 0 1 1 1.758375 1 0.270000 1.940000 0.156069 0.630000 0.450000 0.840000 0.640000 0.648278 0.630000 0 5.400000e-01 7.400000e-01 DCHS1 8642 broad.mit.edu 37 11 6661892 6661892 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr11:6661892C>T ENST00000299441.3 - 2 1364 c.953G>A c.(952-954)cGg>cAg p.R318Q NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) GTCCAGTGGCCGCTCTAACTG 0.612000 0 SO:0001583 missense ENST00000299441.3 1 1 hg19 CCDS7771.1 . . . . . . . . . . C 17.89 3.498727 0.64298 . . ENSG00000166341 ENST00000299441 T 0.52295 0.67 5.14 5.14 0.70334 Cadherin (4);Cadherin-like (1); 0.000000 0.42964 D 0.000628 T 0.35098 0.0920 L 0.28649 0.875 0.31682 N 0.643017 P 0.47545 0.897 P 0.45343 0.477 T 0.32107 -0.9919 10 0.17832 T 0.49 . 7.5326 0.27691 0.0:0.8152:0.0:0.1848 . 318 Q96JQ0 PCD16_HUMAN Q 318 ENSP00000299441:R318Q ENSP00000299441:R318Q R - 2 0 DCHS1 6618468 1.000000 0.71417 1.000000 0.80357 0.925000 0.55904 2.706000 0.47135 2.381000 0.81170 0.637000 0.83480 CGG TCGA-HZ-8315-01A-11D-2396-08 DCHS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257258.1 1 0 1 72 461 0 93 0 6.911029e-01 0 17 0 93 2 0 0 0 0 0 2 1 1.000000 64 408 0 76 2 0 0 0 0 93 2 -3.221907 1 1 0 0 1 1 2 3 2.022644 0 0.270000 1.940000 0.271966 0.990000 0.790000 1.000000 1.000000 0.960785 0.990000 1 8.900000e-01 1 MYBPC1 4604 broad.mit.edu 37 12 102056180 102056180 + Missense_Mutation SNP A A G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:102056180A>G ENST00000550270.1 + 19 2002 c.2002A>G c.(2002-2004)Agg>Ggg p.R668G RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R681G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R655G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R654G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R649G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R642G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R569G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R656G Q00872 MYPC1_HUMAN myosin binding protein C, slow type 57 CAGGTGGATGAGGCTGAATTT 0.403000 0 SO:0001583 missense ENST00000550270.1 1 1 hg19 CCDS9085.1 . . . . . . . . . . A 19.45 3.829492 0.71258 . . ENSG00000196091 ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.57752 0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38 5.86 3.41 0.39046 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.56097 D 0.000027 T 0.71341 0.3328 M 0.78223 2.4 0.54753 D 0.999987 D;D;D;D;D;P;D;D;D;D 0.89917 0.991;1.0;0.973;0.996;0.999;0.745;0.995;0.996;0.974;0.995 D;D;D;D;D;P;D;D;D;D 0.91635 0.975;0.999;0.95;0.997;0.997;0.62;0.995;0.998;0.962;0.996 T 0.73707 -0.3898 10 0.87932 D 0 . 12.8782 0.58001 0.6074:0.3926:0.0:0.0 . 649;656;668;668;655;642;668;668;693;693 B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2 .;.;.;.;.;.;.;MYPC1_HUMAN;.;. G 642;668;668;668;655;654;693;681;668;693;668;649;656;693;569;668 ENSP00000448175:R642G;ENSP00000400908:R668G;ENSP00000388989:R668G;ENSP00000353822:R668G;ENSP00000376665:R655G;ENSP00000447362:R654G;ENSP00000354845:R693G;ENSP00000447660:R681G;ENSP00000447900:R668G;ENSP00000440034:R668G;ENSP00000446128:R649G;ENSP00000442847:R656G;ENSP00000354849:R693G;ENSP00000447116:R569G;ENSP00000449702:R668G ENSP00000353822:R668G R + 1 2 MYBPC1 100580311 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.892000 0.56235 0.509000 0.28195 0.528000 0.53228 AGG TCGA-HZ-8315-01A-11D-2396-08 MYBPC1-024 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000408806.1 1 0 1 31 240 0 52 0 0 0 1 0 52 2 0 0 0 0 0 2 1 1.000000 31 239 0 52 2 0 0 0 0 52 2 -13.153570 1 1 0 0 1 0 0 0 2.005592 0 0.270000 1.940000 0.266037 0.840000 0.590000 1.000000 1.000000 0.842021 0.840000 0 7.000000e-01 9.900000e-01 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 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 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) 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 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-HZ-8315-01A-11D-2396-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 11 73 0 15 1 8.437386e-01 8 17 0 15 2 1 1 61 485 0 373 2 1 0.998710 11 73 0 15 2 1 1 1433 6444 0 15 2 -8.358520 1 1 121404 2 44 1 0 0 0 2.005592 0 0.270000 1.940000 0.266037 0.960000 0.530000 1.000000 1.000000 0.892294 0.960000 1 7.200000e-01 1 TM7SF3 51768 broad.mit.edu 37 12 27149763 27149763 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:27149763C>T ENST00000343028.4 - 4 655 c.430G>A c.(430-432)Gat>Aat p.D144N TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 18 Colorectal(261;0.0847) ATATCTAAATCGAACTCCAAA 0.383000 0 SO:0001583 missense ENST00000343028.4 1 1 hg19 CCDS8710.1 . . . . . . . . . . C 10.80 1.453206 0.26161 . . ENSG00000064115 ENST00000343028;ENST00000543803;ENST00000539741;ENST00000543088;ENST00000535423 T;T;T;T 0.47177 1.47;0.94;0.93;0.85 4.4 3.5 0.40072 . 0.265132 0.37669 N 0.001996 T 0.34164 0.0888 L 0.52266 1.64 0.34122 D 0.664214 B 0.30021 0.265 B 0.12837 0.008 T 0.42799 -0.9430 10 0.28530 T 0.3 -22.7313 7.8384 0.29384 0.0:0.7662:0.0:0.2338 . 144 Q9NS93 TM7S3_HUMAN N 144;42;22;22;22 ENSP00000342322:D144N;ENSP00000442617:D42N;ENSP00000441027:D22N;ENSP00000444632:D22N ENSP00000342322:D144N D - 1 0 TM7SF3 27041030 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 1.019000 0.30014 2.448000 0.82819 0.563000 0.77884 GAT TCGA-HZ-8315-01A-11D-2396-08 TM7SF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403033.1 1 0 1 25 215 0 34 1 9.999121e-01 37 93 0 34 2 0 0 0 0 0 2 1 1.000000 24 215 0 34 2 0 0 0 0 34 2 -20.000000 1 1 0 0 1 0 0 0 2.005592 0 0.270000 1.940000 0.266037 0.760000 0.510000 1.000000 1.000000 0.776813 0.760000 0 6.300000e-01 9.200000e-01 CSAD 51380 broad.mit.edu 37 12 53552313 53552313 + Silent SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:53552313C>T ENST00000444623.1 - 17 1731 c.1464G>A c.(1462-1464)cgG>cgA p.R488R CSAD_ENST00000379846.1_Silent_p.R341R|CSAD_ENST00000453446.2_Silent_p.R488R|CSAD_ENST00000379843.3_Silent_p.R341R|CSAD_ENST00000267085.4_Silent_p.R515R|RP11-1136G11.8_ENST00000550908.1_lincRNA NM_001244705.1 NP_001231634.1 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 14 L-Cysteine(DB00151) CCTGGCCTAGCCGCTCCAGCT 0.622000 Ovarian(109;252 1546 16882 28524 44645) 0 SO:0001819 synonymous_variant ENST00000444623.1 1 1 hg19 CCDS58235.1 . . . . . . . . . . C 7.110 0.575840 0.13623 . . ENSG00000139631 ENST00000379850 . . . 4.49 0.356 0.16074 . . . . . T 0.45196 0.1330 . . . 0.80722 D 1 . . . . . . T 0.21075 -1.0256 4 . . . -13.2112 3.9686 0.09443 0.1186:0.5019:0.2319:0.1476 . . . . T 514 . . A - 1 0 CSAD 51838580 0.762000 0.28451 0.473000 0.27253 0.771000 0.43674 0.028000 0.13644 -0.247000 0.09597 -1.744000 0.00683 GCT TCGA-HZ-8315-01A-11D-2396-08 CSAD-017 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343697.1 1 0 1 32 202 0 40 1 7.789648e-01 4 16 0 40 2 0 0 0 0 0 2 1 1.000000 32 201 0 40 2 0 0 0 0 40 2 -3.321871 1 1 0 0 1 0 0 0 2.005592 0 0.270000 1.940000 0.266037 0.990000 0.710000 1.000000 1.000000 0.943670 0.990000 1 8.400000e-01 1 NCKAP1L 3071 broad.mit.edu 37 12 54929924 54929924 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:54929924C>T ENST00000293373.6 + 28 3047 c.2968C>T c.(2968-2970)Cct>Tct p.P990S NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P940S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 80 TACTTCATCTCCTGAGGAGGA 0.443000 0 SO:0001583 missense ENST00000293373.6 1 1 hg19 CCDS31813.1 . . . . . . . . . . C 11.95 1.791160 0.31685 . . ENSG00000123338 ENST00000293373;ENST00000545638 T;T 0.30981 1.51;1.51 4.31 0.435 0.16544 . 0.299519 0.32343 N 0.006238 T 0.15825 0.0381 N 0.17631 0.505 0.33491 D 0.58865 B 0.06786 0.001 B 0.10450 0.005 T 0.20338 -1.0278 10 0.21540 T 0.41 -4.5611 7.885 0.29644 0.0:0.6346:0.0:0.3654 . 990 P55160 NCKPL_HUMAN S 990;940 ENSP00000293373:P990S;ENSP00000445596:P940S ENSP00000293373:P990S P + 1 0 NCKAP1L 53216191 0.001000 0.12720 0.960000 0.40013 0.751000 0.42716 0.442000 0.21628 -0.017000 0.14103 0.655000 0.94253 CCT TCGA-HZ-8315-01A-11D-2396-08 NCKAP1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406195.1 1 0 1 41 328 0 41 0 9.849181e-01 0 55 0 41 2 0 0 0 0 0 2 1 1.000000 40 325 0 41 2 0 0 0 0 41 2 -15.836590 1 1 0 0 1 0 0 0 2.005592 0 0.270000 1.940000 0.266037 0.810000 0.600000 1.000000 1.000000 0.822718 0.810000 0 7.000000e-01 9.400000e-01 SLC26A10 65012 broad.mit.edu 37 12 58019519 58019519 + Silent SNP C C T rs145592443 TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:58019519C>T ENST00000320442.4 + 14 1994 c.1683C>T c.(1681-1683)tgC>tgT p.C561C SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR NM_133489.2 NP_597996.2 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 19 Melanoma(17;0.122) CACTGGGCTGCGGCAAGTGAG 0.582000 0 SO:0001819 synonymous_variant ENST00000320442.4 1 1 hg19 CCDS8949.2 TCGA-HZ-8315-01A-11D-2396-08 SLC26A10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250311.2 1 0 1 42 246 0 42 0 8.935166e-01 0 25 0 42 2 0 0 0 0 0 2 1 1.000000 41 244 0 42 2 0 0 0 0 42 2 -3.323239 1 1 120168 14 42 1 0 0 0 2.005592 0 0.270000 1.940000 0.266037 0.990000 0.790000 1.000000 1.000000 0.972912 0.990000 1 9.200000e-01 1 PTPN6 5777 broad.mit.edu 37 12 7061156 7061156 + Missense_Mutation SNP C C G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:7061156C>G ENST00000318974.9 + 3 386 c.142C>G c.(142-144)Cag>Gag p.Q48E PTPN6_ENST00000447931.2_Missense_Mutation_p.Q9E|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q50E|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q48E NM_002831.5 NP_002822.2 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 18 GGTGGGGGATCAGGTGACCCA 0.597000 0 SO:0001583 missense ENST00000318974.9 0 1 hg19 CCDS44820.1 . . . . . . . . . . C 1.112 -0.657924 0.03454 . . ENSG00000111679 ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462 D;D;D;D;D;D;D;D;D 0.96365 -2.33;-2.33;-3.99;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33 4.75 3.85 0.44370 SH2 motif (5); 0.577535 0.17289 N 0.179712 T 0.82125 0.4969 N 0.00560 -1.38 0.09310 N 0.999992 B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0 B;B;B;B;B 0.04013 0.0;0.001;0.001;0.001;0.001 T 0.72994 -0.4122 10 0.02654 T 1 . 8.6522 0.34042 0.0:0.766:0.1536:0.0804 . 36;9;48;48;50 B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4 .;.;.;PTN6_HUMAN;. E 69;50;9;48;48;48;48;48;7 ENSP00000443393:Q69E;ENSP00000382376:Q50E;ENSP00000415979:Q9E;ENSP00000438740:Q48E;ENSP00000326010:Q48E;ENSP00000391592:Q48E;ENSP00000444337:Q48E;ENSP00000445646:Q48E;ENSP00000440114:Q7E ENSP00000326010:Q48E Q + 1 0 PTPN6 6931417 0.632000 0.27172 0.990000 0.47175 0.986000 0.74619 1.392000 0.34486 0.981000 0.38548 0.561000 0.74099 CAG TCGA-HZ-8315-01A-11D-2396-08 PTPN6-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400023.1 0 0 0 17 189 0 30 1 9.959320e-01 21 82 0 30 2 0 0 0 0 0 2 1 0.999971 17 188 0 30 2 0 0 0 0 30 2 -19.998700 1 1 0 0 1 0 1 1 2.010562 0 0.270000 1.940000 0.268024 0.610000 0.370000 0.910000 0.600000 0.630208 0.610000 0 4.800000e-01 7.700000e-01 PTPN6 5777 broad.mit.edu 37 12 7061302 7061302 + Silent SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:7061302C>T ENST00000318974.9 + 3 532 c.288C>T c.(286-288)ctC>ctT p.L96L PTPN6_ENST00000447931.2_Silent_p.L57L|PTPN6_ENST00000399448.1_Silent_p.L98L|PTPN6_ENST00000456013.1_Silent_p.L96L NM_002831.5 NP_002822.2 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 18 TCATCCACCTCAAGTACCCGC 0.612000 0 SO:0001819 synonymous_variant ENST00000318974.9 1 1 hg19 CCDS44820.1 TCGA-HZ-8315-01A-11D-2396-08 PTPN6-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400023.1 1 0 1 59 386 0 102 1 9.999031e-01 11 79 0 102 2 0 0 0 0 0 2 1 1.000000 59 384 0 101 2 0 0 0 0 102 2 -2.966662 1 1 0 0 1 0 1 1 2.010562 0 0.270000 1.940000 0.268024 0.970000 0.750000 1.000000 1.000000 0.945024 0.970000 1 8.600000e-01 1 C1S 716 broad.mit.edu 37 12 7173836 7173836 + Missense_Mutation SNP A A G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:7173836A>G ENST00000406697.1 + 11 1514 c.886A>G c.(886-888)Aag>Gag p.K296E C1S_ENST00000328916.3_Missense_Mutation_p.K296E|C1S_ENST00000360817.5_Missense_Mutation_p.K296E|C1S_ENST00000402681.3_Missense_Mutation_p.K129E P09871 C1S_HUMAN complement component 1, s subcomponent 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GCCCTGCCCTAAGGAAGACAC 0.418000 GBM(156;750 1943 12971 24779 31015) 0 SO:0001583 missense ENST00000406697.1 1 1 hg19 CCDS31735.1 . . . . . . . . . . A 3.314 -0.140144 0.06669 . . ENSG00000182326 ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978 D;D;D;D;T 0.84298 -1.78;-1.78;-1.78;-1.83;2.22 5.6 5.6 0.85130 Complement control module (2);Sushi/SCR/CCP (2); 0.000000 0.45361 D 0.000367 T 0.79046 0.4380 M 0.62266 1.93 0.09310 N 1 B 0.23249 0.082 B 0.25987 0.065 T 0.62544 -0.6832 10 0.06757 T 0.87 . 6.8762 0.24149 0.7708:0.1521:0.0771:0.0 . 296 P09871 C1S_HUMAN E 296;296;296;284;129;129 ENSP00000385035:K296E;ENSP00000328173:K296E;ENSP00000354057:K296E;ENSP00000384171:K129E;ENSP00000442298:K129E ENSP00000328173:K296E K + 1 0 C1S 7044097 0.010000 0.17322 0.152000 0.22495 0.176000 0.22953 1.798000 0.38814 2.124000 0.65301 0.460000 0.39030 AAG TCGA-HZ-8315-01A-11D-2396-08 C1S-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317481.1 1 0 1 31 205 0 32 1 1 2 1270 0 32 2 0 0 0 0 0 2 1 1.000000 30 205 0 32 2 0 0 0 0 32 2 -20.000000 1 1 0 0 1 0 1 1 2.010562 0 0.270000 1.940000 0.268024 0.960000 0.680000 1.000000 1.000000 0.926014 0.960000 1 8.100000e-01 1 LIN7A 8825 broad.mit.edu 37 12 81242056 81242056 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr12:81242056C>T ENST00000552864.1 - 3 449 c.247G>A c.(247-249)Gaa>Aaa p.E83K NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 15 GCACGGAATTCGGGACAGCCA 0.358000 0 SO:0001583 missense ENST00000552864.1 0 1 hg19 CCDS9021.1 . . . . . . . . . . C 26.7 4.762707 0.89932 . . ENSG00000111052 ENST00000552864;ENST00000549417 T;T 0.27557 2.18;1.66 5.8 5.8 0.92144 L27, C-terminal (1);PDZ/DHR/GLGF (1);L27 (1); 0.000000 0.85682 D 0.000000 T 0.49389 0.1554 L 0.57536 1.79 0.80722 D 1 D 0.61697 0.99 P 0.55965 0.788 T 0.46289 -0.9202 10 0.87932 D 0 -17.324 20.0637 0.97700 0.0:1.0:0.0:0.0 . 83 O14910 LIN7A_HUMAN K 83;77 ENSP00000447488:E83K;ENSP00000448975:E77K ENSP00000261203:E83K E - 1 0 LIN7A 79766187 1.000000 0.71417 0.967000 0.41034 0.934000 0.57294 7.487000 0.81328 2.751000 0.94390 0.650000 0.86243 GAA TCGA-HZ-8315-01A-11D-2396-08 LIN7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407760.1 1 0 1 15 151 0 22 0 2.671175e-02 0 3 0 22 2 0 0 0 0 0 2 1 0.999887 15 149 0 20 2 0 0 0 0 22 2 -2.879519 1 1 121408 2 27 1 0 0 0 2.005592 0 0.270000 1.940000 0.266037 0.670000 0.390000 1.000000 1.000000 0.686750 0.670000 0 5.200000e-01 8.500000e-01 RASA3 22821 broad.mit.edu 37 13 114795342 114795342 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr13:114795342G>A ENST00000334062.7 - 5 515 c.394C>T c.(394-396)Cgg>Tgg p.R132W RASA3_ENST00000542651.1_Missense_Mutation_p.A100V|RASA3_ENST00000389544.4_Missense_Mutation_p.R100W NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TCGCTCAGCCGCAGCTCCAGG 0.642000 0 SO:0001583 missense ENST00000334062.7 0 1 hg19 CCDS32016.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 21.6|21.6 4.176924|4.176924 0.78564|0.78564 .|. .|. ENSG00000185989|ENSG00000185989 ENST00000542651|ENST00000334062;ENST00000389544 T|T;T 0.18502|0.71934 2.21|-0.61;-0.61 4.5|4.5 -9.0|-9.0 0.00747|0.00747 .|C2 calcium/lipid-binding domain, CaLB (1); .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.71281|0.71281 0.3321|0.3321 L|L 0.47716|0.47716 1.5|1.5 0.22305|0.22305 N|N 0.99922|0.99922 .|D .|0.89917 .|1.0 .|P .|0.60236 .|0.871 T|T 0.75150|0.75150 -0.3419|-0.3419 6|9 .|. .|. .|. .|. 19.117|19.117 0.93344|0.93344 0.0:0.0:0.7474:0.2526|0.0:0.0:0.7474:0.2526 .|. .|132 .|Q14644 .|RASA3_HUMAN V|W 100|132;100 ENSP00000439008:A100V|ENSP00000335029:R132W;ENSP00000374195:R100W .|. A|R -|- 2|1 0|2 RASA3|RASA3 113813444|113813444 1.000000|1.000000 0.71417|0.71417 0.423000|0.423000 0.26634|0.26634 0.966000|0.966000 0.64601|0.64601 1.343000|1.343000 0.33930|0.33930 -2.187000|-2.187000 0.00759|0.00759 -0.314000|-0.314000 0.08810|0.08810 GCG|CGG TCGA-HZ-8315-01A-11D-2396-08 RASA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045957.2 1 0 0 6 21 0 9 1 9.953876e-01 7 37 0 9 2 0 0 0 0 0 2 1 0.971191 6 21 0 9 2 0 0 0 0 9 2 -14.208020 1 1 118804 12 32 1 1 2 3 2.019451 0 0.270000 1.940000 0.271966 0.990000 0.690000 1.000000 1.000000 0.976766 0.990000 1 9.900000e-01 1 TRPC4 7223 broad.mit.edu 37 13 38225420 38225420 + Silent SNP T T C TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr13:38225420T>C ENST00000379705.3 - 8 2918 c.2061A>G c.(2059-2061)gaA>gaG p.E687E TRPC4_ENST00000447043.1_Silent_p.E687E|TRPC4_ENST00000355779.2_Silent_p.E687E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Silent_p.E514E|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Silent_p.E687E|TRPC4_ENST00000379679.1_Silent_p.E514E|TRPC4_ENST00000358477.2_Silent_p.E687E Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 83 TTCCAAAACTTTCTGGCTTTC 0.368000 0 SO:0001819 synonymous_variant ENST00000379705.3 1 1 hg19 CCDS9365.1 TCGA-HZ-8315-01A-11D-2396-08 TRPC4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044574.2 1 0 0 60 363 0 59 0 1.532782e-01 0 5 0 59 2 0 0 0 0 0 2 1 1.000000 60 361 0 59 2 0 0 0 0 59 2 -20.000000 1 0 0 0 1 1 2 3 2.019451 0 0.270000 1.940000 0.271966 0.990000 0.820000 1.000000 1.000000 0.975081 0.990000 1 9.300000e-01 1 PTGR2 145482 broad.mit.edu 37 14 74345810 74345810 + Missense_Mutation SNP C C G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr14:74345810C>G ENST00000555661.1 + 6 676 c.531C>G c.(529-531)ttC>ttG p.F177L PTGR2_ENST00000267568.4_Missense_Mutation_p.F177L|PTGR2_ENST00000553813.1_Missense_Mutation_p.F43L|RP5-1021I20.4_ENST00000556551.2_Intron|PTGR2_ENST00000555228.1_Missense_Mutation_p.F177L Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 9 Indomethacin(DB00328) TTGGCCATTTCTTAGGTTGTT 0.353000 Esophageal Squamous(98;1155 1417 16452 47043 47872) 0 SO:0001583 missense ENST00000555661.1 1 1 hg19 CCDS9820.1 . . . . . . . . . . C 5.605 0.296449 0.10622 . . ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653 ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813 T;T;T;T;T 0.03745 3.82;3.82;3.82;3.82;3.82 5.52 2.76 0.32466 Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1); 0.256361 0.35870 N 0.002939 T 0.00468 0.0015 N 0.00006 -3.25 0.25447 N 0.988045 B 0.02656 0.0 B 0.01281 0.0 T 0.42666 -0.9438 10 0.02654 T 1 -0.5166 4.2981 0.10911 0.1348:0.1253:0.611:0.1289 . 177 Q8N8N7 PTGR2_HUMAN L 177;177;177;128;43 ENSP00000450975:F177L;ENSP00000452280:F177L;ENSP00000267568:F177L;ENSP00000451158:F128L;ENSP00000450824:F43L ENSP00000267568:F177L F + 3 2 RP5-1021I20.4;PTGR2 73415563 1.000000 0.71417 0.870000 0.34147 0.622000 0.37654 2.944000 0.49034 0.311000 0.23014 -0.759000 0.03464 TTC TCGA-HZ-8315-01A-11D-2396-08 PTGR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412575.1 1 0 1 71 501 0 91 1 6.438429e-01 5 12 0 91 2 0 0 0 0 0 2 1 1.000000 71 499 0 91 2 0 0 0 0 91 2 -20.000000 1 1 0 0 1 0 1 1 2.014250 0 0.270000 1.940000 0.269013 0.910000 0.720000 1.000000 1.000000 0.909464 0.910000 1 8.100000e-01 1 MVP 9961 broad.mit.edu 37 16 29852959 29852959 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr16:29852959G>A ENST00000357402.5 + 9 1372 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E412K NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 27 GACCCAGGACGAAGTCCTGTG 0.617000 0 SO:0001583 missense ENST00000357402.5 1 1 hg19 CCDS10656.1 . . . . . . . . . . G 22.1 4.241347 0.79912 . . ENSG00000013364 ENST00000357402;ENST00000395353 T;T 0.14893 2.47;2.47 5.61 5.61 0.85477 . 0.148857 0.64402 D 0.000015 T 0.51500 0.1678 M 0.92604 3.325 0.80722 D 1 D 0.89917 1.0 D 0.67548 0.952 T 0.61855 -0.6977 10 0.59425 D 0.04 -11.9549 17.1387 0.86747 0.0:0.0:1.0:0.0 . 412 Q14764 MVP_HUMAN K 412 ENSP00000349977:E412K;ENSP00000378760:E412K ENSP00000349977:E412K E + 1 0 MVP 29760460 1.000000 0.71417 0.731000 0.30826 0.944000 0.59088 7.739000 0.84976 2.627000 0.88993 0.563000 0.77884 GAA TCGA-HZ-8315-01A-11D-2396-08 MVP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109711.3 1 0 1 14 76 0 23 1 1 118 376 0 23 2 0 0 0 0 0 2 1 0.999824 14 75 0 23 2 0 0 0 0 23 2 -19.999920 1 1 0 0 1 1 2 3 2.025407 0 0.270000 1.940000 0.271966 0.990000 0.680000 1.000000 1.000000 0.960655 0.990000 1 8.900000e-01 1 NOD2 64127 broad.mit.edu 37 16 50745886 50745886 + Silent SNP C C A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr16:50745886C>A ENST00000300589.2 + 4 2169 c.2064C>A c.(2062-2064)ggC>ggA p.G688G RP11-327F22.6_ENST00000602304.1_RNA NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 52 all_cancers(37;0.0156) AGCACTGGGGCCTGCTGGCTG 0.662000 0 SO:0001819 synonymous_variant ENST00000300589.2 1 1 hg19 CCDS10746.1 TCGA-HZ-8315-01A-11D-2396-08 NOD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256876.2 1 0 1 33 211 0 41 0 0 0 1 0 41 2 0 0 0 0 0 2 1 1.000000 33 210 0 40 2 0 0 0 0 41 2 -20.000000 1 1 0 0 1 1 2 3 2.025407 0 0.270000 1.940000 0.271966 0.990000 0.710000 1.000000 1.000000 0.943951 0.990000 1 8.500000e-01 1 TMEM208 29100 broad.mit.edu 37 16 67262758 67262758 + Missense_Mutation SNP C C G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr16:67262758C>G ENST00000304800.9 + 5 464 c.358C>G c.(358-360)Ctc>Gtc p.L120V LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000565201.1_Missense_Mutation_p.L120V|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000393992.1_5'Flank|TMEM208_ENST00000563953.1_Missense_Mutation_p.L50V|TMEM208_ENST00000563426.1_Intron NM_014187.3 NP_054906.2 Q9BTX3 TM208_HUMAN transmembrane protein 208 5 Ovarian(137;0.0563) CTGCTTCTCTCTCTATGTCTG 0.522000 0 SO:0001583 missense ENST00000304800.9 1 1 hg19 CCDS45511.1 . . . . . . . . . . C 12.02 1.813010 0.32053 . . ENSG00000168701 ENST00000304800 T 0.28666 1.6 5.62 5.62 0.85841 . 0.745366 0.11021 N 0.608350 T 0.34745 0.0908 L 0.59436 1.845 0.35503 D 0.799939 P 0.35656 0.514 B 0.31812 0.136 T 0.42783 -0.9431 10 0.33940 T 0.23 . 18.2269 0.89920 0.0:1.0:0.0:0.0 . 120 Q9BTX3 TM208_HUMAN V 120 ENSP00000305892:L120V ENSP00000305892:L120V L + 1 0 TMEM208 65820259 0.961000 0.32948 1.000000 0.80357 0.957000 0.61999 2.027000 0.41078 2.637000 0.89404 0.561000 0.74099 CTC TCGA-HZ-8315-01A-11D-2396-08 TMEM208-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421976.2 1 0 1 75 508 0 94 1 1 46 251 0 94 2 0 0 0 0 0 2 1 1.000000 72 500 0 91 2 0 0 0 0 94 2 -3.221885 1 1 0 0 1 1 2 3 2.017088 0 0.270000 1.940000 0.270984 0.950000 0.760000 1.000000 1.000000 0.934984 0.950000 1 8.500000e-01 1 CLEC18A 348174 broad.mit.edu 37 16 69988323 69988323 + Missense_Mutation SNP G G T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr16:69988323G>T ENST00000288040.6 + 3 490 c.303G>T c.(301-303)tgG>tgT p.W101C CLEC18A_ENST00000449317.2_Missense_Mutation_p.W101C|CLEC18A_ENST00000393701.2_Missense_Mutation_p.W101C|CLEC18A_ENST00000568461.1_Missense_Mutation_p.W101C NM_001136214.2 NP_001129686.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A 5 CCGGCCTGTGGCGCACCCTGC 0.657000 0 SO:0001583 missense ENST00000288040.6 1 1 hg19 CCDS10886.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 9.308|9.308 1.054888|1.054888 0.19907|0.19907 .|. .|. ENSG00000157322|ENSG00000157322 ENST00000545150|ENST00000393701;ENST00000539957;ENST00000449317;ENST00000288040 .|T;T;T .|0.07444 .|3.19;3.19;3.19 1.76|1.76 -1.94|-1.94 0.07571|0.07571 .|CAP domain (3); .|1.776390 .|0.02581 .|N .|0.098870 T|T 0.05731|0.05731 0.0150|0.0150 N|N 0.03608|0.03608 -0.345|-0.345 0.09310|0.09310 N|N 1|1 .|P;P;P .|0.50943 .|0.94;0.873;0.846 .|P;P;P .|0.51701 .|0.677;0.579;0.517 T|T 0.05666|0.05666 -1.0871|-1.0871 5|9 .|. .|. .|. .|. 2.0146|2.0146 0.03495|0.03495 0.3592:0.0:0.3832:0.2576|0.3592:0.0:0.3832:0.2576 .|. .|101;101;101 .|B4DPF2;A5D8T8;F8W692 .|.;CL18A_HUMAN;. S|C 100|101 .|ENSP00000377304:W101C;ENSP00000413990:W101C;ENSP00000288040:W101C .|. A|W +|+ 1|3 0|0 CLEC18A|CLEC18A 68545824|68545824 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.021000|0.021000 0.10359|0.10359 0.075000|0.075000 0.14686|0.14686 -0.471000|-0.471000 0.06891|0.06891 0.184000|0.184000 0.17185|0.17185 GCG|TGG TCGA-HZ-8315-01A-11D-2396-08 CLEC18A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000268955.2 1 0 0 15 184 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 0.999819 14 172 0 42 2 0 0 0 0 39 2 -6.476399 1 1 0 0 1 1 2 3 2.017088 0 0.270000 1.940000 0.270984 0.560000 0.330000 0.880000 0.550000 0.582210 0.560000 0 4.300000e-01 7.200000e-01 SPOP 8405 broad.mit.edu 37 17 47677787 47677787 + Nonsense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr17:47677787G>A ENST00000393328.2 - 11 1443 c.1078C>T c.(1078-1080)Cag>Tag p.Q360* SPOP_ENST00000347630.2_Nonsense_Mutation_p.Q360*|SPOP_ENST00000504102.1_Nonsense_Mutation_p.Q360*|SPOP_ENST00000393331.3_Nonsense_Mutation_p.Q360*|SPOP_ENST00000503676.1_Nonsense_Mutation_p.Q360* NM_003563.3 NP_003554.1 O43791 SPOP_HUMAN speckle-type POZ protein 63 AAAGGGCACTGTGCTGAAGCC 0.527000 Prostate(2;0.17) 0 SO:0001587 stop_gained ENST00000393328.2 0 1 hg19 CCDS11551.1 . . . . . . . . . . G 40 8.243401 0.98722 . . ENSG00000121067 ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872 . . . 5.65 5.65 0.86999 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.54805 T 0.06 -1.4971 19.5069 0.95121 0.0:0.0:1.0:0.0 . . . . X 360;360;360;360;244;360;313 . ENSP00000240327:Q360X Q - 1 0 SPOP 45032786 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.621000 0.83083 2.941000 0.99782 0.655000 0.94253 CAG TCGA-HZ-8315-01A-11D-2396-08 SPOP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365154.2 1 0 0 152 922 0 153 1 9.999995e-01 21 98 0 153 2 0 0 0 0 0 2 1 1.000000 151 911 0 152 2 0 0 0 0 153 2 -20.000000 1 1 0 0 1 1 2 3 2.027700 0 0.270000 1.940000 0.273921 0.990000 0.900000 1.000000 1.000000 0.989518 0.990000 1 9.700000e-01 1 APOH 350 broad.mit.edu 37 17 64225477 64225477 + Silent SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr17:64225477G>A ENST00000205948.6 - 1 58 c.21C>T c.(19-21)atC>atT p.I7I NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TCGAGAACAAGATGAGCACTG 0.388000 Melanoma(155;624 1882 16869 48804 51309) 0 SO:0001819 synonymous_variant ENST00000205948.6 1 1 hg19 CCDS11663.1 TCGA-HZ-8315-01A-11D-2396-08 APOH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000446926.1 1 0 1 24 165 0 30 0 4.738468e-01 0 12 0 30 2 0 0 0 0 0 2 1 1.000000 21 163 0 30 2 0 0 0 0 30 2 -20.000000 1 1 0 0 1 1 2 3 2.027700 0 0.270000 1.940000 0.273921 0.950000 0.630000 1.000000 1.000000 0.909698 0.950000 1 7.800000e-01 1 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 T C T T Valid Somatic Phase_I WXS targeted Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr17:7578394T>C ENST00000269305.4 - 5 725 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) GCAGCGCTCATGGTGGGGGCA 0.642000 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 217 Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(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 1 1 hg19 CCDS11118.1 . . . . . . . . . . T 26.0 4.694391 0.88830 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 D;D;D;D;D;D;D;D 0.99909 -7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87 5.47 5.47 0.80525 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.048592 0.85682 D 0.000000 D 0.99917 0.9961 M 0.92507 3.315 0.80722 D 1 D;D;D;D;D;D;D 0.89917 0.989;1.0;0.985;1.0;0.995;1.0;0.996 D;D;D;D;D;D;D 0.97110 0.929;0.996;0.912;1.0;0.985;0.995;0.937 D 0.95874 0.8893 10 0.87932 D 0 -15.4889 13.8032 0.63214 0.0:0.0:0.0:1.0 . 140;179;179;86;179;179;179 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. R 179;179;179;179;179;179;168;86;47;86;47 ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R ENSP00000269305:H179R H - 2 0 TP53 7519119 1.000000 0.71417 0.945000 0.38365 0.856000 0.48823 6.263000 0.72521 2.208000 0.71279 0.460000 0.39030 CAT TCGA-HZ-8315-01A-11D-2396-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 34 201 0 52 1 9.925617e-01 15 33 0 52 2 1 1 149 657 0 894 2 1 1.000000 33 199 0 51 2 0 0 0 0 52 2 -20.000000 1 1 0 0 1 0 1 1 1.753571 1 0.270000 1.940000 0.156069 0.860000 0.640000 0.990000 0.910000 0.855573 0.860000 1 7.500000e-01 9.600000e-01 DNMT1 1786 broad.mit.edu 37 19 10257056 10257056 + Silent SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:10257056C>T ENST00000340748.4 - 27 3052 c.2817G>A c.(2815-2817)gtG>gtA p.V939V DNMT1_ENST00000359526.4_Silent_p.V955V|DNMT1_ENST00000540357.1_Silent_p.V939V|DNMT1_ENST00000589538.1_5'Flank P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035) GGGGCAGGTACACACCATCAC 0.632000 0 SO:0001819 synonymous_variant ENST00000340748.4 1 1 hg19 CCDS12228.1 TCGA-HZ-8315-01A-11D-2396-08 DNMT1-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451166.1 1 0 0 22 209 0 43 0 8.542056e-01 0 35 0 43 2 0 0 0 0 0 2 1 0.999999 23 209 0 42 2 0 0 0 0 43 2 -20.000000 1 1 0 0 1 0.270000 1.940000 0 0 LSM4 25804 broad.mit.edu 37 19 18420597 18420597 + Silent SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:18420597G>A ENST00000593829.1 - 4 472 c.219C>T c.(217-219)gaC>gaT p.D73D LSM4_ENST00000252816.6_Silent_p.D59D NM_001252129.1|NM_012321.4 NP_001239058.1|NP_036453.1 Q9Y4Z0 LSM4_HUMAN LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) 6 CGATGATCTCGTCGGGGATGC 0.652000 0 SO:0001819 synonymous_variant ENST00000593829.1 1 1 hg19 CCDS12374.1 TCGA-HZ-8315-01A-11D-2396-08 LSM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466321.1 1 0 1 37 174 0 33 1 1 56 141 0 33 2 0 0 0 0 0 2 1 1.000000 37 172 0 33 2 0 0 0 0 33 2 -20.000000 1 1 121406 1 26 1 0 0 0 1.968727 0 0.270000 1.940000 0.249743 0.990000 0.910000 1.000000 1.000000 0.995276 0.990000 1 9.900000e-01 1 ZNF43 7594 broad.mit.edu 37 19 21990677 21990677 + Missense_Mutation SNP A A G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:21990677A>G ENST00000354959.4 - 4 2331 c.2162T>C c.(2161-2163)cTt>cCt p.L721P ZNF43_ENST00000594012.1_Missense_Mutation_p.L715P|ZNF43_ENST00000598381.1_Missense_Mutation_p.L715P|ZNF43_ENST00000595461.1_Missense_Mutation_p.L715P NM_003423.3 NP_003414.2 P17038 ZNF43_HUMAN zinc finger protein 43 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) ATGTTCAATAAGGTTTGAGGA 0.358000 0 SO:0001583 missense ENST00000354959.4 1 1 hg19 CCDS12413.2 . . . . . . . . . . A 13.18 2.159953 0.38119 . . ENSG00000198521 ENST00000397148;ENST00000354959 T 0.53857 0.6 1.76 1.76 0.24704 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.76033 0.3931 M 0.93808 3.46 0.23572 N 0.99739 D 0.89917 1.0 D 0.97110 1.0 T 0.62539 -0.6833 9 0.87932 D 0 . 8.2856 0.31926 1.0:0.0:0.0:0.0 . 721 P17038 ZNF43_HUMAN P 720;721 ENSP00000347045:L721P ENSP00000347045:L721P L - 2 0 ZNF43 21782517 0.247000 0.23920 0.003000 0.11579 0.850000 0.48378 2.617000 0.46385 0.808000 0.34231 0.254000 0.18369 CTT TCGA-HZ-8315-01A-11D-2396-08 ZNF43-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000250380.2 1 0 1 56 316 0 52 0 5.143540e-01 0 11 0 52 2 0 0 0 0 0 2 1 1.000000 56 310 0 51 2 0 0 0 0 52 2 -20.000000 1 1 0 0 1 0 0 0 1.968727 0 0.270000 1.940000 0.249743 0.990000 0.830000 1.000000 1.000000 0.981239 0.990000 1 9.500000e-01 1 CHST8 64377 broad.mit.edu 37 19 34180278 34180278 + Silent SNP C C T rs150945646 TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:34180278C>T ENST00000262622.4 + 2 869 c.111C>T c.(109-111)ctC>ctT p.L37L CHST8_ENST00000438847.3_Silent_p.L37L|CHST8_ENST00000434302.1_Silent_p.L37L|CHST8_ENST00000604556.1_3'UTR NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 27 Esophageal squamous(110;0.162) CTACGGAGCTCGCCCCCCAGC 0.632000 0 SO:0001819 synonymous_variant ENST00000262622.4 1 1 hg19 CCDS12433.1 TCGA-HZ-8315-01A-11D-2396-08 CHST8-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451453.1 1 0 0 56 521 0 96 0 0 0 0 96 2 0 0 0 0 0 2 1 1.000000 55 514 0 96 2 0 0 0 0 96 2 -2.920853 1 1 121406 11 44 1 0 0 0 1.968727 0 0.270000 1.940000 0.249743 0.690000 0.530000 0.870000 0.700000 0.705811 0.690000 0 6.100000e-01 7.900000e-01 PSG9 5678 broad.mit.edu 37 19 43766196 43766196 + Silent SNP G G A rs150952802 TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:43766196G>A ENST00000270077.3 - 3 621 c.525C>T c.(523-525)gaC>gaT p.D175D PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000244293.7_Silent_p.D175D|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron NM_002784.3 NP_002775.3 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 41 Prostate(69;0.00682) GGTAGCTTGCGTCCAGAGTCT 0.532000 0 SO:0001819 synonymous_variant ENST00000270077.3 1 1 hg19 CCDS12618.1 TCGA-HZ-8315-01A-11D-2396-08 PSG9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323065.1 0 0 1 777 1352 0 247 0 0 0 0 247 2 0 0 0 0 0 2 1 1.000000 773 1339 0 246 2 0 0 0 0 247 2 -20.000000 1 1 121412 1 43 1 1 4 5 2.702820 1 0.270000 1.940000 0.460199 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 KCNC3 3748 broad.mit.edu 37 19 50823922 50823922 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:50823922G>A ENST00000477616.1 - 3 2392 c.2098C>T c.(2098-2100)Cgc>Tgc p.R700C KCNC3_ENST00000474951.1_Missense_Mutation_p.R16C|KCNC3_ENST00000391818.2_Silent_p.A36A|KCNC3_ENST00000376959.2_Missense_Mutation_p.R700C NM_004977.2 NP_004968.2 Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 13 all_neural(266;0.057)|Ovarian(192;0.208) Dalfampridine(DB06637) CGGCTATAGCGGCCACGGCTT 0.652000 Melanoma(91;1496 2324 50908) 0 SO:0001583 missense ENST00000477616.1 1 1 hg19 CCDS12793.1 . . . . . . . . . . G 13.98 2.399766 0.42512 . . ENSG00000131398 ENST00000376959;ENST00000474951;ENST00000477616;ENST00000443843 D;D 0.99032 -5.29;-5.35 2.72 2.72 0.32119 . 1.188930 0.06896 U 0.805029 D 0.98454 0.9485 L 0.29908 0.895 0.80722 D 1 D;D 0.76494 0.999;0.999 D;P 0.71414 0.973;0.876 D 0.95938 0.8944 10 0.87932 D 0 . 9.0178 0.36182 0.0:0.0:1.0:0.0 . 700;700 Q14003;E7ETH1 KCNC3_HUMAN;. C 700;16;700;514 ENSP00000366158:R700C;ENSP00000434241:R700C ENSP00000366158:R700C R - 1 0 KCNC3 55515734 1.000000 0.71417 1.000000 0.80357 0.750000 0.42670 3.340000 0.52143 1.540000 0.49301 0.460000 0.39030 CGC TCGA-HZ-8315-01A-11D-2396-08 KCNC3-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000314288.2 1 0 1 27 174 0 33 1 1.972223e-01 3 3 0 33 2 0 0 0 0 0 2 1 1.000000 27 170 0 32 2 0 0 0 0 33 2 -13.862510 1 1 121400 6 35 1 1 2 3 2.051604 0 0.270000 1.940000 0.277800 0.990000 0.690000 1.000000 1.000000 0.942602 0.990000 1 8.400000e-01 1 ZNF320 162967 broad.mit.edu 37 19 53384748 53384748 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:53384748G>A ENST00000595635.1 - 8 1132 c.631C>T c.(631-633)Cac>Tac p.H211Y ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H211Y|ZNF320_ENST00000600930.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 24 TCTCCCCTGTGAATTCTAGTA 0.378000 0 SO:0001583 missense ENST00000595635.1 1 1 hg19 CCDS33095.1 . . . . . . . . . . - 18.41 3.616954 0.66672 . . ENSG00000182986 ENST00000391781 T 0.67523 -0.27 1.75 1.75 0.24633 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . D 0.84602 0.5508 H 0.94698 3.57 0.32028 N 0.599881 D 0.89917 1.0 D 0.87578 0.998 D 0.85343 0.1097 9 0.72032 D 0.01 . 10.504 0.44823 0.0:0.0:1.0:0.0 . 211 A2RRD8 ZN320_HUMAN Y 211 ENSP00000375660:H211Y ENSP00000375660:H211Y H - 1 0 ZNF320 58076560 0.994000 0.37717 0.002000 0.10522 0.509000 0.34042 2.912000 0.48782 0.960000 0.38005 0.194000 0.17425 CAC TCGA-HZ-8315-01A-11D-2396-08 ZNF320-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463771.1 1 0 1 66 417 0 80 1 9.634747e-01 4 32 0 80 2 0 0 0 0 0 2 1 1.000000 65 414 0 79 2 0 0 0 0 80 2 -20.000000 1 1 0 0 1 1 2 3 2.051604 0 0.270000 1.940000 0.277800 0.990000 0.800000 1.000000 1.000000 0.968927 0.990000 1 9.100000e-01 1 MUC16 94025 broad.mit.edu 37 19 9026241 9026241 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:9026241G>A ENST00000397910.4 - 14 36948 c.36745C>T c.(36745-36747)Cgc>Tgc p.R12249C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 590 GAGCCAGTGCGACGCATGTCC 0.552000 0 SO:0001583 missense ENST00000397910.4 1 1 hg19 CCDS54212.1 . . . . . . . . . . g 6.444 0.450006 0.12223 . . ENSG00000181143 ENST00000397910 T 0.39056 1.1 2.58 0.112 0.14623 . . . . . T 0.29524 0.0736 M 0.71581 2.175 . . . P 0.46277 0.875 B 0.28553 0.091 T 0.39121 -0.9629 8 0.87932 D 0 . 3.3118 0.07020 0.1519:0.0:0.5975:0.2506 . 12249 B5ME49 . C 12249 ENSP00000381008:R12249C ENSP00000381008:R12249C R - 1 0 MUC16 8887241 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.995000 0.01472 0.109000 0.17891 0.195000 0.17529 CGC TCGA-HZ-8315-01A-11D-2396-08 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 1 0 1 102 555 0 152 1 8.170057e-01 19 0 0 152 2 0 0 0 0 0 2 1 1.000000 101 550 0 151 2 0 0 0 0 152 2 -20.000000 1 1 121040 2 36 1 0 1 1 1.750363 1 0.270000 1.940000 0.156069 0.930000 0.790000 1.000000 0.990000 0.929411 0.930000 1 8.600000e-01 9.800000e-01 MUC16 94025 broad.mit.edu 37 19 9047967 9047967 + Missense_Mutation SNP A A G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr19:9047967A>G ENST00000397910.4 - 5 33867 c.33664T>C c.(33664-33666)Ttt>Ctt p.F11222L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 590 AGATTTGAAAACGCACTGGTC 0.478000 0 SO:0001583 missense ENST00000397910.4 0 1 hg19 CCDS54212.1 . . . . . . . . . . a 8.449 0.852667 0.17106 . . ENSG00000181143 ENST00000397910 T 0.02446 4.29 3.15 -6.29 0.02013 . . . . . T 0.02533 0.0077 L 0.34521 1.04 . . . B 0.23735 0.09 B 0.30029 0.11 T 0.41752 -0.9491 8 0.87932 D 0 . 5.9379 0.19175 0.2189:0.4934:0.0:0.2877 . 11222 B5ME49 . L 11222 ENSP00000381008:F11222L ENSP00000381008:F11222L F - 1 0 MUC16 8908967 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -0.762000 0.04745 -2.422000 0.00563 0.398000 0.26397 TTT TCGA-HZ-8315-01A-11D-2396-08 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 1 0 1 13 117 0 24 1 4.738197e-01 14 1 0 24 2 0 0 0 0 0 2 1 0.999606 12 117 0 24 2 0 0 0 0 24 2 -19.718750 1 1 0 0 1 0 1 1 1.750363 1 0.270000 1.940000 0.156069 0.620000 0.360000 0.920000 0.620000 0.640900 0.620000 0 4.800000e-01 7.900000e-01 AMY2A 279 broad.mit.edu 37 1 104160219 104160219 + Missense_Mutation SNP G G C TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G C G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:104160219G>C ENST00000414303.2 + 1 221 c.157G>C c.(157-159)Gga>Cga p.G53R NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491) GAAGGGATTTGGAGGGGTTCA 0.408000 0 SO:0001583 missense ENST00000414303.2 1 1 hg19 CCDS783.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 13.95|13.95 2.389476|2.389476 0.42410|0.42410 .|. .|. ENSG00000243480|ENSG00000243480 ENST00000414303;ENST00000393932|ENST00000423678 D|. 0.98249|. -4.82|. 3.22|3.22 3.22|3.22 0.36961|0.36961 Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);|. 0.049955|. 0.85682|. D|. 0.000000|. T|T 0.75613|0.75613 0.3873|0.3873 M|M 0.89534|0.89534 3.04|3.04 0.80722|0.80722 D|D 1|1 D;D|. 0.89917|. 1.0;1.0|. D;D|. 0.83275|. 0.994;0.996|. T|T 0.81378|0.81378 -0.0960|-0.0960 10|5 0.87932|. D|. 0|. .|. 14.5293|14.5293 0.67912|0.67912 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 53;53|. B9EJG1;P04746|. .;AMYP_HUMAN|. R|S 53|51 ENSP00000397582:G53R|. ENSP00000377509:G53R|. G|W +|+ 1|2 0|0 AMY2A|AMY2A 103961742|103961742 1.000000|1.000000 0.71417|0.71417 0.997000|0.997000 0.53966|0.53966 0.031000|0.031000 0.12232|0.12232 8.935000|8.935000 0.92923|0.92923 1.784000|1.784000 0.52394|0.52394 0.455000|0.455000 0.32223|0.32223 GGA|TGG TCGA-HZ-8315-01A-11D-2396-08 AMY2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030315.1 1 0 1 117 594 0 141 0 1 0 162 0 141 2 0 0 0 0 0 2 1 1.000000 71 430 0 156 2 0 0 0 0 141 2 -20.000000 1 1 0 0 1 1 2 3 2.045032 0 0.270000 1.940000 0.276834 0.990000 0.990000 1.000000 1.000000 0.999725 0.990000 1 9.900000e-01 1 ATAD3C 219293 broad.mit.edu 37 1 1389850 1389850 + Silent SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:1389850G>A ENST00000378785.2 + 4 1343 c.348G>A c.(346-348)acG>acA p.T116T NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) CCCGCATCACGGTGCTTGAGG 0.667000 0 SO:0001819 synonymous_variant ENST00000378785.2 0 1 hg19 CCDS44039.1 TCGA-HZ-8315-01A-11D-2396-08 ATAD3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000001279.3 1 0 0 4 85 0 19 0 3.583373e-03 0 2 0 19 2 0 0 0 0 0 2 1 0.891987 4 85 0 19 2 0 0 0 0 19 2 -7.442292 1 0 0 0 1 1 2 3 2.037207 0 0.270000 1.940000 0.275865 0.380000 0.120000 1.000000 0.330000 0.426281 0.380000 0 2.300000e-01 6.100000e-01 PINK1 65018 broad.mit.edu 37 1 20964418 20964418 + Silent SNP G G C TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:20964418G>C ENST00000321556.4 + 2 565 c.471G>C c.(469-471)ctG>ctC p.L157L NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) AGGAGTATCTGATAGGGCAGT 0.547000 Esophageal Squamous(145;853 1803 8146 34412 35011) 0 SO:0001819 synonymous_variant ENST00000321556.4 1 1 hg19 CCDS211.1 TCGA-HZ-8315-01A-11D-2396-08 PINK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007954.1 1 0 1 52 346 0 67 1 1 40 189 0 67 2 0 0 0 0 0 2 1 1.000000 52 341 0 67 2 0 0 0 0 67 2 -20.000000 1 1 0 0 1 1 2 3 2.037843 0 0.270000 1.940000 0.275865 0.980000 0.740000 1.000000 1.000000 0.943427 0.980000 1 8.500000e-01 1 PLCH2 9651 broad.mit.edu 37 1 2418364 2418364 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:2418364G>A ENST00000419816.2 + 6 1109 c.835G>A c.(835-837)Gag>Aag p.E279K PLCH2_ENST00000378486.3_Missense_Mutation_p.E279K|PLCH2_ENST00000378488.3_Missense_Mutation_p.E279K|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Missense_Mutation_p.E252K O75038 PLCH2_HUMAN phospholipase C, eta 2 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) TGTGACCCTCGAGAGCTGCCA 0.627000 0 SO:0001583 missense ENST00000419816.2 0 1 hg19 . . . . . . . . . . G 15.95 2.983526 0.53827 . . ENSG00000149527 ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878 T;T;T 0.19938 2.11;2.11;2.11 3.87 3.87 0.44632 Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1); 0.120124 0.56097 D 0.000039 T 0.42787 0.1218 M 0.69823 2.125 0.80722 D 1 D;D;P;D 0.69078 0.995;0.997;0.942;0.991 P;D;P;P 0.67548 0.869;0.952;0.563;0.876 T 0.34329 -0.9833 10 0.37606 T 0.19 . 14.9819 0.71316 0.0:0.0:1.0:0.0 . 126;67;252;279 B9DI81;B9DI82;O75038-2;O75038 .;.;.;PLCH2_HUMAN K 252;279;279;126;67 ENSP00000397289:E252K;ENSP00000367747:E279K;ENSP00000367749:E279K ENSP00000278878:E67K E + 1 0 PLCH2 2408224 1.000000 0.71417 0.844000 0.33320 0.547000 0.35210 6.280000 0.72626 2.006000 0.58801 0.561000 0.74099 GAG TCGA-HZ-8315-01A-11D-2396-08 PLCH2-009 KNOWN non_canonical_conserved|basic|appris_principal protein_coding protein_coding OTTHUMT00000467514.1 1 0 1 10 54 0 9 0 2.659207e-01 1 5 0 9 2 0 0 0 0 0 2 1 0.997454 10 53 0 9 2 0 0 0 0 9 2 -18.299340 1 1 120952 1 31 1 1 2 3 2.037207 0 0.270000 1.940000 0.275865 0.990000 0.620000 1.000000 1.000000 0.952489 0.990000 1 8.700000e-01 1 COL16A1 1307 broad.mit.edu 37 1 32137235 32137235 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:32137235G>A ENST00000373672.3 - 48 3647 c.3131C>T c.(3130-3132)cCg>cTg p.P1044L COL16A1_ENST00000271069.6_Missense_Mutation_p.P1044L NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) TGGAGGACCCGGGGAGCCCCT 0.602000 Colon(143;498 1786 21362 25193 36625) 0 SO:0001583 missense ENST00000373672.3 1 1 hg19 CCDS41297.1 . . . . . . . . . . G 16.78 3.217879 0.58560 0.0 2.43E-4 ENSG00000084636 ENST00000373672;ENST00000271069 D;D 0.94184 -3.37;-3.17 5.21 5.21 0.72293 . 0.218028 0.39834 N 0.001253 D 0.96352 0.8810 M 0.78285 2.405 0.58432 D 0.999996 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.998 D 0.96373 0.9275 10 0.62326 D 0.03 . 14.6242 0.68608 0.0:0.0:1.0:0.0 . 1044;1044 Q07092;Q07092-2 COGA1_HUMAN;. L 1044 ENSP00000362776:P1044L;ENSP00000271069:P1044L ENSP00000271069:P1044L P - 2 0 COL16A1 31909822 1.000000 0.71417 0.957000 0.39632 0.844000 0.47949 3.842000 0.55858 2.599000 0.87857 0.655000 0.94253 CCG TCGA-HZ-8315-01A-11D-2396-08 COL16A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000011057.2 1 0 1 21 147 0 30 1 9.999991e-01 13 164 0 30 2 0 0 0 0 0 2 1 0.999998 20 147 0 30 2 0 0 0 0 30 2 -2.668485 1 1 120852 23 43 1 1 2 3 2.037843 0 0.270000 1.940000 0.275865 0.940000 0.610000 1.000000 1.000000 0.901949 0.940000 1 7.600000e-01 1 ZNF362 149076 broad.mit.edu 37 1 33745956 33745956 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:33745956G>A ENST00000539719.1 + 5 751 c.581G>A c.(580-582)cGc>cAc p.R194H ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GAACGCGGCCGCAAAAAGATC 0.647000 Pancreas(162;1431 2676 35353 38425) 0 SO:0001583 missense ENST00000539719.1 0 1 hg19 CCDS377.1 . . . . . . . . . . G 36 5.713649 0.96830 . . ENSG00000160094 ENST00000483388;ENST00000539719;ENST00000373428 T;T 0.09163 3.01;3.01 5.99 5.99 0.97316 . 0.468737 0.18085 N 0.152172 T 0.37404 0.1002 M 0.77103 2.36 0.80722 D 1 D 0.76494 0.999 D 0.76071 0.987 T 0.02512 -1.1148 10 0.87932 D 0 -36.2752 18.0311 0.89285 0.0:0.0:1.0:0.0 . 194 Q5T0B9 ZN362_HUMAN H 181;194;194 ENSP00000446335:R194H;ENSP00000362527:R194H ENSP00000362527:R194H R + 2 0 ZNF362 33518543 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.314000 0.96306 2.857000 0.98124 0.650000 0.86243 CGC TCGA-HZ-8315-01A-11D-2396-08 ZNF362-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000011857.2 0 0 0 6 251 0 38 0 4.163360e-01 0 54 0 38 2 0 0 0 0 0 2 1 0.964198 6 248 0 37 2 0 0 0 0 38 2 -2.803090 1 1 0 0 1 1 2 3 2.037843 0 0.270000 1.940000 0.275865 0.190000 0.070000 1.000000 0.170000 0.237351 0.190000 0 1.200000e-01 2.900000e-01 DOCK7 85440 broad.mit.edu 37 1 62954668 62954668 + Missense_Mutation SNP A A C TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 A C A A Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:62954668A>C ENST00000340370.5 - 41 5354 c.5337T>G c.(5335-5337)gaT>gaG p.D1779E DOCK7_ENST00000251157.5_Missense_Mutation_p.D1801E NM_033407.2 NP_212132.2 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 92 GTTTCTTTGCATCCCGATTAG 0.328000 0 SO:0001583 missense ENST00000340370.5 1 1 hg19 CCDS30734.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 17.05|17.05 3.289641|3.289641 0.59976|0.59976 .|. .|. ENSG00000116641|ENSG00000116641 ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441 .|T;T .|0.05319 .|3.46;3.46 5.74|5.74 0.777|0.777 0.18538|0.18538 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.07908|0.07908 0.0198|0.0198 L|L 0.46885|0.46885 1.475|1.475 0.58432|0.58432 D|D 0.999998|0.999998 .|B;P;P;P;P;P .|0.51351 .|0.264;0.46;0.944;0.765;0.494;0.627 .|B;B;P;B;B;B .|0.46659 .|0.171;0.307;0.523;0.441;0.262;0.399 T|T 0.27673|0.27673 -1.0067|-1.0067 5|10 .|0.36615 .|T .|0.2 .|. 9.7468|9.7468 0.40451|0.40451 0.7365:0.0:0.2635:0.0|0.7365:0.0:0.2635:0.0 .|. .|1810;1801;1779;1770;1770;1801 .|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6 .|DOCK7_HUMAN;.;.;.;.;. G|E 973|1810;1801;1779;540 .|ENSP00000251157:D1801E;ENSP00000340742:D1779E .|ENSP00000251157:D1801E C|D -|- 1|3 0|2 DOCK7|DOCK7 62727256|62727256 0.998000|0.998000 0.40836|0.40836 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 0.731000|0.731000 0.26058|0.26058 0.120000|0.120000 0.18254|0.18254 0.482000|0.482000 0.46254|0.46254 TGC|GAT TCGA-HZ-8315-01A-11D-2396-08 DOCK7-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000036806.1 1 0 1 34 259 0 48 1 9.978092e-01 16 58 0 48 2 0 0 0 0 0 2 1 1.000000 34 258 0 48 2 0 0 0 0 48 2 -14.474980 1 1 0 0 1 1 2 3 2.037843 0 0.270000 1.940000 0.275865 0.870000 0.620000 1.000000 1.000000 0.868529 0.870000 1 7.300000e-01 1 TCTEX1D1 200132 broad.mit.edu 37 1 67242967 67242967 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr1:67242967C>T ENST00000282670.2 + 5 498 c.370C>T c.(370-372)Cca>Tca p.P124S NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 13 CTTGATGATTCCACGGTATAA 0.383000 0 SO:0001583 missense ENST00000282670.2 1 1 hg19 CCDS633.1 . . . . . . . . . . C 14.59 2.582064 0.46006 . . ENSG00000152760 ENST00000282670 T 0.31247 1.5 5.83 5.83 0.93111 . 0.000000 0.85682 D 0.000000 T 0.38692 0.1050 M 0.75264 2.295 0.80722 D 1 P 0.42123 0.771 P 0.48334 0.574 T 0.10154 -1.0642 10 0.44086 T 0.13 -5.2119 19.7289 0.96175 0.0:1.0:0.0:0.0 . 124 Q8N7M0 TC1D1_HUMAN S 124 ENSP00000282670:P124S ENSP00000282670:P124S P + 1 0 TCTEX1D1 67015555 1.000000 0.71417 0.977000 0.42913 0.029000 0.11900 5.357000 0.66058 2.770000 0.95276 0.655000 0.94253 CCA TCGA-HZ-8315-01A-11D-2396-08 TCTEX1D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025399.2 1 0 1 73 515 0 65 0 7.970409e-02 0 4 0 65 2 0 0 0 0 0 2 1 1.000000 72 513 0 65 2 0 0 0 0 65 2 -20.000000 1 1 0 0 1 1 2 3 2.037843 0 0.270000 1.940000 0.275865 0.930000 0.730000 1.000000 1.000000 0.920342 0.930000 1 8.200000e-01 1 ISM1 140862 broad.mit.edu 37 20 13260457 13260457 + Silent SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr20:13260457C>T ENST00000262487.4 + 3 561 c.555C>T c.(553-555)gaC>gaT p.D185D TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 17 GTACCTCAGACGACAGCAACT 0.597000 0 SO:0001819 synonymous_variant ENST00000262487.4 1 1 hg19 CCDS46579.1 TCGA-HZ-8315-01A-11D-2396-08 ISM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078039.2 1 0 1 34 309 0 62 0 9.922688e-01 0 71 0 62 2 0 0 0 0 0 2 1 1.000000 34 305 0 62 2 0 0 0 0 62 2 -9.746629 1 1 120832 17 43 1 0 0 0 2.006643 0 0.270000 1.940000 0.266037 0.720000 0.510000 0.970000 0.720000 0.740312 0.720000 0 6.100000e-01 8.500000e-01 PLTP 5360 broad.mit.edu 37 20 44539794 44539794 + Missense_Mutation SNP G G C TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr20:44539794G>C ENST00000477313.1 - 2 791 c.197C>G c.(196-198)tCt>tGt p.S66C PLTP_ENST00000542937.1_Missense_Mutation_p.S86C|PLTP_ENST00000372431.3_Missense_Mutation_p.S66C|PLTP_ENST00000354050.4_Missense_Mutation_p.S66C|PLTP_ENST00000420868.2_Missense_Mutation_p.S66C|PLTP_ENST00000372420.1_5'Flank P55058 PLTP_HUMAN phospholipid transfer protein 21 Myeloproliferative disorder(115;0.0122) CACTTACTCAGAGATGTTGTA 0.637000 0 SO:0001583 missense ENST00000477313.1 1 1 hg19 CCDS13386.1 . . . . . . . . . . G 19.75 3.886362 0.72410 . . ENSG00000100979 ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868 T;T;T;T;T 0.06933 3.24;3.24;3.24;3.24;3.41 5.07 5.07 0.68467 Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1); 0.208418 0.48767 D 0.000178 T 0.24275 0.0588 M 0.64997 1.995 0.49687 D 0.999818 D;D;D;D;D;D 0.76494 0.994;0.997;0.999;0.999;0.999;0.999 P;P;D;D;D;D 0.70227 0.819;0.819;0.968;0.946;0.968;0.968 T 0.00086 -1.2094 10 0.62326 D 0.03 . 12.8555 0.57882 0.0:0.2974:0.7026:0.0 . 66;66;66;66;66;86 E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5 .;.;.;.;PLTP_HUMAN;. C 66;66;66;86;66 ENSP00000361508:S66C;ENSP00000335290:S66C;ENSP00000417138:S66C;ENSP00000440296:S86C;ENSP00000411671:S66C ENSP00000335290:S66C S - 2 0 PLTP 43973201 0.997000 0.39634 0.964000 0.40570 0.993000 0.82548 2.708000 0.47152 2.636000 0.89361 0.467000 0.42956 TCT TCGA-HZ-8315-01A-11D-2396-08 PLTP-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354633.1 1 0 1 71 447 0 98 1 1 4 197 0 98 2 0 0 0 0 0 2 1 1.000000 70 443 0 97 2 0 0 0 0 98 2 -3.075803 1 1 0 0 1 0 0 0 2.006643 0 0.270000 1.940000 0.266037 0.990000 0.800000 1.000000 1.000000 0.962854 0.990000 1 8.900000e-01 1 KCNB1 3745 broad.mit.edu 37 20 47990731 47990731 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr20:47990731G>A ENST00000371741.4 - 2 1532 c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Dalfampridine(DB06637) TCAATGCTCCGGGCAAAAGCA 0.453000 0 SO:0001583 missense ENST00000371741.4 1 1 hg19 CCDS13418.1 . . . . . . . . . . G 18.56 3.650170 0.67472 . . ENSG00000158445 ENST00000371741;ENST00000538812 D 0.96940 -4.18 5.77 4.81 0.61882 . 0.068374 0.64402 D 0.000015 D 0.97660 0.9233 M 0.65975 2.015 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.98457 1.0594 10 0.72032 D 0.01 . 16.1196 0.81342 0.0:0.0:0.8649:0.135 . 456 Q14721 KCNB1_HUMAN W 456;411 ENSP00000360806:R456W ENSP00000360806:R456W R - 1 2 KCNB1 47424138 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 6.569000 0.73992 1.552000 0.49463 0.655000 0.94253 CGG TCGA-HZ-8315-01A-11D-2396-08 KCNB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080374.3 1 0 1 106 661 0 112 0 0 0 0 112 2 0 0 0 0 0 2 1 1.000000 106 657 0 112 2 0 0 0 0 112 2 -2.443734 0 1 0 0 1 0 0 0 2.007955 0 0.270000 1.940000 0.266037 0.990000 0.840000 1.000000 1.000000 0.973316 0.990000 1 9.200000e-01 1 ADNP 23394 broad.mit.edu 37 20 49510803 49510803 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr20:49510803C>T ENST00000396029.3 - 5 1015 c.448G>A c.(448-450)Gat>Aat p.D150N ADNP_ENST00000349014.3_Missense_Mutation_p.D150N|ADNP_ENST00000396032.3_Missense_Mutation_p.D150N|ADNP_ENST00000371602.4_Missense_Mutation_p.D150N NM_001282531.1|NM_015339.2 NP_001269460.1|NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 39 TTAAGGCCATCATTTTTGTTT 0.398000 0 SO:0001583 missense ENST00000396029.3 1 1 hg19 CCDS13433.1 . . . . . . . . . . C 13.48 2.251232 0.39797 . . ENSG00000101126 ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467 T;T;T;T;T 0.71103 -0.54;-0.54;-0.54;-0.54;-0.54 5.87 5.87 0.94306 . 0.086182 0.85682 D 0.000000 T 0.59473 0.2196 N 0.19112 0.55 0.48571 D 0.999676 B 0.31318 0.319 B 0.29598 0.104 T 0.55535 -0.8126 10 0.31617 T 0.26 -14.7975 20.206 0.98277 0.0:1.0:0.0:0.0 . 150 Q9H2P0 ADNP_HUMAN N 150 ENSP00000360662:D150N;ENSP00000342905:D150N;ENSP00000379346:D150N;ENSP00000379349:D150N;ENSP00000436181:D150N ENSP00000342905:D150N D - 1 0 ADNP 48944210 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.286000 0.58995 2.785000 0.95823 0.655000 0.94253 GAT TCGA-HZ-8315-01A-11D-2396-08 ADNP-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079705.2 1 0 1 127 895 0 154 1 9.999262e-01 20 75 0 154 2 0 0 0 0 0 2 1 1.000000 127 888 0 153 2 0 0 0 0 154 2 -20.000000 1 1 0 0 1 0 0 0 2.007955 0 0.270000 1.940000 0.266037 0.910000 0.760000 1.000000 1.000000 0.912477 0.910000 1 8.300000e-01 9.900000e-01 ADAMTS5 11096 broad.mit.edu 37 21 28296738 28296738 + Silent SNP G G A rs11911960 byFrequency TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr21:28296738G>A ENST00000284987.5 - 8 2548 c.2427C>T c.(2425-2427)agC>agT p.S809S AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 72 GGCTCCAACCGCTATAGTTCA 0.443000 Esophageal Squamous(53;683 1080 10100 14424 45938) 0 SO:0001819 synonymous_variant ENST00000284987.5 1 0 hg19 CCDS13579.1 TCGA-HZ-8315-01A-11D-2396-08 ADAMTS5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000171648.1 1 0 1 118 742 0 132 0 2.504840e-01 0 7 0 132 2 0 0 0 0 0 2 1 1.000000 118 731 0 132 2 0 0 0 0 132 2 -8.465305 1 1 121412 295 59 1 1 2 3 2.017182 0 0.270000 1.940000 0.270984 0.990000 0.850000 1.000000 1.000000 0.974852 0.990000 1 9.200000e-01 1 THOC5 8563 broad.mit.edu 37 22 29913325 29913325 + Missense_Mutation SNP C C A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr22:29913325C>A ENST00000490103.1 - 16 1642 c.1520G>T c.(1519-1521)tGc>tTc p.C507F THOC5_ENST00000397873.2_Missense_Mutation_p.C507F|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.C507F|THOC5_ENST00000397872.1_Missense_Mutation_p.C507F NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 21 GAGGTACTGGCAATCACTGGT 0.488000 0 SO:0001583 missense ENST00000490103.1 1 1 hg19 CCDS13859.1 . . . . . . . . . . C 26.7 4.760500 0.89932 . . ENSG00000100296 ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873 T;T;T;T 0.25250 1.81;1.81;1.81;1.81 5.81 5.81 0.92471 . 0.000000 0.85682 D 0.000000 T 0.39358 0.1075 M 0.65975 2.015 0.80722 D 1 D 0.55605 0.972 P 0.47528 0.549 T 0.19943 -1.0290 10 0.56958 D 0.05 -28.072 19.6653 0.95890 0.0:1.0:0.0:0.0 . 507 Q13769 THOC5_HUMAN F 507 ENSP00000420306:C507F;ENSP00000380970:C507F;ENSP00000380969:C507F;ENSP00000380971:C507F ENSP00000380969:C507F C - 2 0 THOC5 28243325 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 5.792000 0.69052 2.733000 0.93635 0.655000 0.94253 TGC TCGA-HZ-8315-01A-11D-2396-08 THOC5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322097.1 1 0 1 22 140 0 29 1 9.993355e-01 19 59 0 29 2 0 0 0 0 0 2 1 0.999999 22 139 0 28 2 0 0 0 0 29 2 -20.000000 1 1 0 0 1 1 2 3 2.025855 0 0.270000 1.940000 0.271966 0.990000 0.660000 1.000000 1.000000 0.934321 0.990000 1 8.200000e-01 1 CNTNAP5 129684 broad.mit.edu 37 2 125281910 125281910 + Missense_Mutation SNP C C T rs17727261 by1000genomes TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr2:125281910C>T ENST00000431078.1 + 9 1719 c.1355C>T c.(1354-1356)tCg>tTg p.S452L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 176 CTGTGGCACTCGGTTAGCATC 0.522000 0 SO:0001583 missense ENST00000431078.1 1 0 hg19 CCDS46401.1 59 0.027014652014652016 2 0.0040650406504065045 9 0.024861878453038673 0 0.0 48 0.0633245382585752 C 15.22 2.768382 0.49680 0.005532 0.050866 ENSG00000155052 ENST00000431078 T 0.79033 -1.23 5.95 5.95 0.96441 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.339680 0.21126 N 0.079740 T 0.34250 0.0891 M 0.66439 2.03 0.44337 D 0.997224 B 0.14805 0.011 B 0.11329 0.006 T 0.61584 -0.7033 10 0.54805 T 0.06 . 19.3736 0.94500 0.0:1.0:0.0:0.0 rs17727261;rs52806650;rs17727261 452 Q8WYK1 CNTP5_HUMAN L 452 ENSP00000399013:S452L ENSP00000399013:S452L S + 2 0 CNTNAP5 124998380 0.758000 0.28405 0.908000 0.35775 0.349000 0.29174 1.421000 0.34815 2.825000 0.97269 0.655000 0.94253 TCG TCGA-HZ-8315-01A-11D-2396-08 CNTNAP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330864.3 0 0 1 32 186 0 39 0 0 0 1 0 39 2 0 0 0 0 0 2 1 1.000000 32 185 0 39 2 0 0 0 0 39 2 -2.427948 0 1 121040 4107 67 1 1 2 3 2.018485 0 0.270000 1.940000 0.270984 0.990000 0.770000 1.000000 1.000000 0.970097 0.990000 1 9.100000e-01 1 THSD7B 80731 broad.mit.edu 37 2 138208441 138208441 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr2:138208441C>T ENST00000409968.1 + 15 3164 c.2986C>T c.(2986-2988)Ccc>Tcc p.P996S THSD7B_ENST00000272643.3_Missense_Mutation_p.P996S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P965S|THSD7B_ENST00000543459.1_Intron Q9C0I4 THS7B_HUMAN thrombospondin, type I, domain containing 7B 134 ATGTGTCATTCCCTGCCCATT 0.363000 0 SO:0001583 missense ENST00000409968.1 1 1 hg19 . . . . . . . . . . C 19.22 3.784951 0.70222 . . ENSG00000144229 ENST00000409968;ENST00000272643;ENST00000413152 T;T;T 0.62232 2.24;0.04;0.04 5.83 5.83 0.93111 . 0.056119 0.64402 N 0.000001 T 0.78272 0.4257 M 0.63428 1.95 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.74668 -0.3588 10 0.38643 T 0.18 . 20.1996 0.98256 0.0:1.0:0.0:0.0 . 965 C9JKN6 . S 996;996;965 ENSP00000387145:P996S;ENSP00000272643:P996S;ENSP00000413841:P965S ENSP00000272643:P996S P + 1 0 THSD7B 137924911 1.000000 0.71417 0.951000 0.38953 0.314000 0.28054 4.906000 0.63293 2.776000 0.95493 0.650000 0.86243 CCC TCGA-HZ-8315-01A-11D-2396-08 THSD7B-001 NOVEL not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000331769.2 0 0 1 31 159 0 25 0 5.110579e-01 0 10 0 25 2 0 0 0 0 0 2 1 1.000000 31 158 0 25 2 0 0 0 0 25 2 -17.608500 1 1 0 0 1 1 2 3 2.018485 0 0.270000 1.940000 0.270984 0.990000 0.850000 1.000000 1.000000 0.989123 0.990000 1 9.900000e-01 1 SCN1A 6323 broad.mit.edu 37 2 166904211 166904211 + Missense_Mutation SNP C C G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr2:166904211C>G ENST00000303395.4 - 8 1095 c.1096G>C c.(1096-1098)Gat>Cat p.D366H AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D366H|SCN1A_ENST00000409050.1_Missense_Mutation_p.D366H|SCN1A_ENST00000423058.2_Missense_Mutation_p.D366H|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 200 Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909) CTGAAGGTATCAAAGCTTGTG 0.418000 0 SO:0001583 missense ENST00000303395.4 1 1 hg19 CCDS54413.1 . . . . . . . . . . C 20.5 4.006572 0.74932 . . ENSG00000144285 ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050 D;D;D;D 0.97529 -4.42;-4.42;-4.42;-4.42 5.0 5.0 0.66597 Ion transport (1); 0.000000 0.64402 D 0.000004 D 0.99149 0.9706 H 0.98111 4.15 0.80722 D 1 D;D;D 0.89917 0.994;1.0;1.0 P;D;D 0.97110 0.789;1.0;0.998 D 0.98988 1.0807 10 0.87932 D 0 . 18.6483 0.91419 0.0:1.0:0.0:0.0 . 366;366;366 P35498-2;E9PG49;P35498 .;.;SCN1A_HUMAN H 366 ENSP00000407030:D366H;ENSP00000303540:D366H;ENSP00000364554:D366H;ENSP00000386312:D366H ENSP00000303540:D366H D - 1 0 SCN1A 166612457 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.773000 0.85462 2.492000 0.84095 0.655000 0.94253 GAT TCGA-HZ-8315-01A-11D-2396-08 SCN1A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000102661.1 1 0 1 72 495 0 105 0 0 0 0 105 2 0 0 0 0 0 2 1 1.000000 72 494 0 104 2 0 0 0 0 105 2 -20.000000 1 1 0 0 1 1 2 3 2.018485 0 0.270000 1.940000 0.270984 0.930000 0.740000 1.000000 1.000000 0.926408 0.930000 1 8.300000e-01 1 HECW2 57520 broad.mit.edu 37 2 197183345 197183345 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr2:197183345C>T ENST00000260983.3 - 9 2451 c.2269G>A c.(2269-2271)Gaa>Aaa p.E757K HECW2_ENST00000409111.1_Missense_Mutation_p.E401K NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 113 GCACTGCCTTCTTCTTGCGGT 0.657000 0 SO:0001583 missense ENST00000260983.3 1 1 hg19 CCDS33354.1 . . . . . . . . . . C 8.519 0.868363 0.17250 . . ENSG00000138411 ENST00000409111;ENST00000260983 T;T 0.32515 1.45;1.48 4.91 4.91 0.64330 . 1.013590 0.07918 N 0.975412 T 0.22742 0.0549 N 0.19112 0.55 0.33047 D 0.532252 B 0.23316 0.083 B 0.19946 0.027 T 0.04781 -1.0927 10 0.07813 T 0.8 . 16.4632 0.84070 0.0:1.0:0.0:0.0 . 757 Q9P2P5 HECW2_HUMAN K 401;757 ENSP00000386775:E401K;ENSP00000260983:E757K ENSP00000260983:E757K E - 1 0 HECW2 196891590 1.000000 0.71417 0.057000 0.19452 0.030000 0.12068 5.590000 0.67530 2.558000 0.86282 0.462000 0.41574 GAA TCGA-HZ-8315-01A-11D-2396-08 HECW2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335199.3 1 0 1 42 244 0 62 0 3.969538e-01 0 9 0 62 2 0 0 0 0 0 2 1 1.000000 42 240 0 61 2 0 0 0 0 62 2 -20.000000 1 1 0 0 1 0 1 1 2.014552 0 0.270000 1.940000 0.269013 0.990000 0.800000 1.000000 1.000000 0.975877 0.990000 1 9.300000e-01 1 CYP26B1 56603 broad.mit.edu 37 2 72362468 72362468 + Silent SNP G G A rs145145054 TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr2:72362468G>A ENST00000001146.2 - 3 713 c.510C>T c.(508-510)cgC>cgT p.R170R CYP26B1_ENST00000546307.1_Silent_p.R95R|CYP26B1_ENST00000412253.1_5'UTR NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 28 TGCTCCAGGCGCGCAGTGTGT 0.622000 0 SO:0001819 synonymous_variant ENST00000001146.2 1 1 hg19 CCDS1919.1 TCGA-HZ-8315-01A-11D-2396-08 CYP26B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251969.1 1 0 1 78 456 0 97 1 1.601893e-01 2 3 0 97 2 0 0 0 0 0 2 1 1.000000 78 452 0 95 2 0 0 0 0 97 2 -20.000000 1 1 121412 9 42 1 1 2 3 2.018485 0 0.270000 1.940000 0.270984 0.990000 0.870000 1.000000 1.000000 0.986591 0.990000 1 9.700000e-01 1 MFI2 4241 broad.mit.edu 37 3 196736601 196736601 + Silent SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr3:196736601C>T ENST00000296350.5 - 11 1526 c.1413G>A c.(1411-1413)cgG>cgA p.R471R NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) AGCGCTTGCCCCGAAGCTCAT 0.642000 0 SO:0001819 synonymous_variant ENST00000296350.5 1 1 hg19 CCDS3325.1 TCGA-HZ-8315-01A-11D-2396-08 MFI2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340458.1 1 0 1 42 304 0 72 1 9.998600e-01 33 65 0 72 2 0 0 0 0 0 2 1 1.000000 42 299 0 71 2 0 0 0 0 72 2 -2.774755 1 1 0 0 1 1 2 3 2.018515 0 0.270000 1.940000 0.270984 0.890000 0.660000 1.000000 1.000000 0.889747 0.890000 1 7.700000e-01 1 SEC22C 9117 broad.mit.edu 37 3 42590112 42590112 + Missense_Mutation SNP G G A rs145549289 by1000genomes TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr3:42590112G>A ENST00000273156.7 - 7 958 c.749C>T c.(748-750)tCg>tTg p.S250L SEC22C_ENST00000536332.1_Missense_Mutation_p.S180L|SEC22C_ENST00000417572.1_Missense_Mutation_p.S250L|SEC22C_ENST00000423701.2_Missense_Mutation_p.S228L NM_004206.3|NM_032970.3 NP_004197.1|NP_116752.1 Q9BRL7 SC22C_HUMAN SEC22 vesicle trafficking protein homolog C (S. cerevisiae) 3 GCTGGCTCACGAGGTTTGGTC 0.547000 0 SO:0001583 missense ENST00000273156.7 1 1 hg19 CCDS2699.1 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 15.00 2.702337 0.48307 . . ENSG00000093183 ENST00000423701;ENST00000273156;ENST00000417572;ENST00000536332 T;T;T;T 0.24151 2.23;2.22;2.22;1.87 3.71 -4.25 0.03766 . . . . . T 0.14098 0.0341 N 0.22421 0.69 0.09310 N 1 B;B;B 0.10296 0.003;0.0;0.0 B;B;B 0.04013 0.001;0.001;0.001 T 0.27872 -1.0061 9 0.87932 D 0 . 5.8941 0.18929 0.5888:0.0:0.2683:0.143 . 180;228;250 F5H0H7;Q9BRL7-3;Q9BRL7-2 .;.;. L 228;250;250;180 ENSP00000414576:S228L;ENSP00000273156:S250L;ENSP00000407564:S250L;ENSP00000439845:S180L ENSP00000273156:S250L S - 2 0 SEC22C 42565116 0.017000 0.18338 0.000000 0.03702 0.029000 0.11900 0.171000 0.16685 -1.089000 0.03073 -0.182000 0.12963 TCG TCGA-HZ-8315-01A-11D-2396-08 SEC22C-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000254733.1 0 0 1 28 206 0 49 1 9.999955e-01 20 128 0 49 2 0 0 0 0 0 2 1 1.000000 28 205 0 49 2 0 0 0 0 49 2 -2.841989 1 1 121412 33 44 1 1 2 3 2.018515 0 0.270000 1.940000 0.270984 0.880000 0.610000 1.000000 1.000000 0.874588 0.880000 1 7.400000e-01 1 CADPS 8618 broad.mit.edu 37 3 62535605 62535605 + Nonsense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr3:62535605G>A ENST00000383710.4 - 11 2288 c.1939C>T c.(1939-1941)Cag>Tag p.Q647* CADPS_ENST00000283269.9_Nonsense_Mutation_p.Q647*|CADPS_ENST00000357948.3_Nonsense_Mutation_p.Q647* NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 92 Lung SC(41;0.0452) GCATCCAGCTGAGGTACATTT 0.478000 0 SO:0001587 stop_gained ENST00000383710.4 0 1 hg19 CCDS46858.1 . . . . . . . . . . G 43 10.157087 0.99349 . . ENSG00000163618 ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833 . . . 4.71 4.71 0.59529 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.10377 T 0.69 . 18.2011 0.89838 0.0:0.0:1.0:0.0 . . . . X 647;647;647;647;142 . ENSP00000283269:Q647X Q - 1 0 CADPS 62510645 1.000000 0.71417 1.000000 0.80357 0.906000 0.53458 9.601000 0.98297 2.612000 0.88384 0.585000 0.79938 CAG TCGA-HZ-8315-01A-11D-2396-08 CADPS-013 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351951.5 1 0 1 57 416 0 89 0 4.391032e-01 0 12 0 89 2 0 0 0 0 0 2 1 1.000000 56 413 0 88 2 0 0 0 0 89 2 -3.075757 1 1 0 0 1 1 2 3 2.018515 0 0.270000 1.940000 0.270984 0.890000 0.680000 1.000000 1.000000 0.888487 0.890000 1 7.800000e-01 1 DCUN1D4 23142 broad.mit.edu 37 4 52779460 52779460 + Nonsense_Mutation SNP C C G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr4:52779460C>G ENST00000334635.5 + 10 905 c.725C>G c.(724-726)tCa>tGa p.S242* DCUN1D4_ENST00000381437.4_Nonsense_Mutation_p.S182*|DCUN1D4_ENST00000381441.3_Nonsense_Mutation_p.S207*|DCUN1D4_ENST00000451288.2_Nonsense_Mutation_p.S286* NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) CATCAGCAATCAAAATACAAA 0.333000 0 SO:0001587 stop_gained ENST00000334635.5 0 1 hg19 CCDS33982.1 . . . . . . . . . . C 39 7.793471 0.98492 . . ENSG00000109184 ENST00000334635;ENST00000381441;ENST00000381437;ENST00000451288;ENST00000510808 . . . 6.02 6.02 0.97574 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.39692 T 0.17 -10.8354 19.5352 0.95251 0.0:1.0:0.0:0.0 . . . . X 242;207;182;286;52 . ENSP00000334625:S242X S + 2 0 DCUN1D4 52474217 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.776000 0.85560 2.850000 0.98022 0.650000 0.86243 TCA TCGA-HZ-8315-01A-11D-2396-08 DCUN1D4-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000250599.2 1 0 0 21 151 0 30 0 9.666357e-01 1 42 0 30 2 0 0 0 0 0 2 1 0.999998 19 151 0 30 2 0 0 0 0 30 2 -20.000000 1 1 0 0 1 1 2 3 2.034066 0 0.270000 1.940000 0.274894 0.920000 0.590000 1.000000 1.000000 0.888370 0.920000 1 7.400000e-01 1 FCHSD1 89848 broad.mit.edu 37 5 141028827 141028827 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr5:141028827G>A ENST00000435817.2 - 6 474 c.424C>T c.(424-426)Cgg>Tgg p.R142W FCHSD1_ENST00000519800.1_Missense_Mutation_p.R140W|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R140W|FCHSD1_ENST00000522126.1_Missense_Mutation_p.R66W NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 FCHSD1/BRAF(2) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGCTCCCGGACAGACTGC 0.602000 0 SO:0001583 missense ENST00000435817.2 1 1 hg19 CCDS47295.1 . . . . . . . . . . G 18.49 3.634995 0.67130 . . ENSG00000197948 ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800 T;T;T;T 0.14766 2.48;2.48;2.48;2.48 5.11 3.09 0.35607 . 0.154663 0.38436 N 0.001683 T 0.24314 0.0589 L 0.40543 1.245 0.32546 N 0.532998 D 0.76494 0.999 D 0.63793 0.918 T 0.24404 -1.0161 10 0.87932 D 0 -18.4959 11.9792 0.53111 0.0:0.0:0.5971:0.4029 . 142 Q86WN1 FCSD1_HUMAN W 142;66;140;140 ENSP00000399259:R142W;ENSP00000427796:R66W;ENSP00000428677:R140W;ENSP00000428776:R140W ENSP00000399259:R142W R - 1 2 FCHSD1 141009011 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 1.385000 0.34408 1.129000 0.42072 0.561000 0.74099 CGG TCGA-HZ-8315-01A-11D-2396-08 FCHSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375282.2 1 0 0 96 672 0 166 1 8.912457e-01 12 16 0 166 2 0 0 0 0 0 2 1 1.000000 94 666 0 162 2 0 0 0 0 166 2 -2.716734 1 1 121194 91 53 1 1 2 3 2.023144 0 0.270000 1.940000 0.271966 0.920000 0.760000 1.000000 1.000000 0.921257 0.920000 1 8.300000e-01 1 ABCB5 340273 broad.mit.edu 37 7 20668330 20668330 + Missense_Mutation SNP T T C TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr7:20668330T>C ENST00000404938.2 + 4 780 c.128T>C c.(127-129)cTg>cCg p.L43P NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 77 GCTGATGGACTGGACATCACA 0.463000 0 SO:0001583 missense ENST00000404938.2 0 1 hg19 CCDS55090.1 . . . . . . . . . . T 8.232 0.804788 0.16467 . . ENSG00000004846 ENST00000404938 D 0.87256 -2.23 4.29 4.29 0.51040 . . . . . T 0.73984 0.3657 N 0.08118 0 0.80722 D 1 B 0.24768 0.111 B 0.25884 0.064 T 0.70978 -0.4725 9 0.39692 T 0.17 . 10.4067 0.44260 0.0:0.0:0.0:1.0 . 43 A7BKA4 . P 43 ENSP00000384881:L43P ENSP00000384881:L43P L + 2 0 ABCB5 20634855 1.000000 0.71417 0.931000 0.37212 0.198000 0.23893 3.709000 0.54853 1.892000 0.54788 0.377000 0.23210 CTG TCGA-HZ-8315-01A-11D-2396-08 ABCB5-004 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000326736.2 1 0 1 18 121 0 17 0 0 0 0 17 2 0 0 0 0 0 2 1 0.999988 18 121 0 17 2 0 0 0 0 17 2 -20.000000 1 1 0 0 1 0 1 1 2.013477 0 0.270000 1.940000 0.268024 0.950000 0.600000 1.000000 1.000000 0.904486 0.950000 1 7.600000e-01 1 STK31 56164 broad.mit.edu 37 7 23826539 23826539 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr7:23826539C>T ENST00000355870.3 + 20 2602 c.2483C>T c.(2482-2484)tCa>tTa p.S828L STK31_ENST00000354639.3_Missense_Mutation_p.S805L|STK31_ENST00000428484.1_Missense_Mutation_p.S805L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.S828L NM_031414.4 NP_113602.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 67 CCTTTAAATTCAGAAGTAAGT 0.353000 0 SO:0001583 missense ENST00000355870.3 1 1 hg19 CCDS5386.1 . . . . . . . . . . C 2.271 -0.366888 0.05069 . . ENSG00000196335 ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484 T;T;T;T 0.72051 -0.62;2.32;-0.62;-0.62 5.45 3.65 0.41850 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.330943 0.28659 N 0.014566 T 0.46171 0.1379 N 0.05574 -0.02 0.34125 D 0.664527 B;B 0.18461 0.012;0.028 B;B 0.19946 0.016;0.027 T 0.45948 -0.9226 10 0.10111 T 0.7 -0.3709 10.3969 0.44207 0.0:0.7807:0.0:0.2193 . 828;828 B4DZ06;Q9BXU1 .;STK31_HUMAN L 828;828;805;805 ENSP00000348132:S828L;ENSP00000411852:S828L;ENSP00000346660:S805L;ENSP00000406146:S805L ENSP00000346660:S805L S + 2 0 STK31 23793064 1.000000 0.71417 0.998000 0.56505 0.003000 0.03518 1.847000 0.39299 0.684000 0.31448 -0.225000 0.12378 TCA TCGA-HZ-8315-01A-11D-2396-08 STK31-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214036.2 1 0 1 64 458 0 96 0 7.844409e-02 1 3 0 96 2 0 0 0 0 0 2 1 1.000000 63 457 0 95 2 0 0 0 0 96 2 -19.999820 1 1 0 0 1 0 1 1 2.013477 0 0.270000 1.940000 0.268024 0.900000 0.700000 1.000000 1.000000 0.898842 0.900000 1 8.000000e-01 1 SOX17 64321 broad.mit.edu 37 8 55372342 55372342 + Silent SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr8:55372342C>T ENST00000297316.4 + 2 1236 c.1032C>T c.(1030-1032)gaC>gaT p.D344D NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CCTGCCGGGACGGCACGGACC 0.692000 0 SO:0001819 synonymous_variant ENST00000297316.4 0 1 hg19 CCDS6159.1 TCGA-HZ-8315-01A-11D-2396-08 SOX17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378526.2 1 0 0 12 62 0 15 0 2.758901e-01 0 6 0 15 2 0 0 0 0 0 2 1 0.999389 12 62 0 15 2 0 0 0 0 15 2 -19.990370 1 1 0 0 1 1 2 3 2.023674 0 0.270000 1.940000 0.271966 0.990000 0.680000 1.000000 1.000000 0.964044 0.990000 1 9.100000e-01 1 ZNF483 158399 broad.mit.edu 37 9 114304519 114304519 + Missense_Mutation SNP G G C TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr9:114304519G>C ENST00000309235.5 + 6 1462 c.1304G>C c.(1303-1305)gGa>gCa p.G435A ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 31 AATGAGAGTGGAGAAAAAACT 0.398000 0 SO:0001583 missense ENST00000309235.5 1 1 hg19 CCDS35106.1 . . . . . . . . . . G 14.78 2.638780 0.47153 . . ENSG00000173258 ENST00000309235 T 0.64618 -0.11 4.34 0.334 0.15948 . 0.376195 0.19591 N 0.110638 T 0.53546 0.1803 M 0.67625 2.065 0.80722 D 1 B 0.19331 0.035 B 0.18561 0.022 T 0.49093 -0.8975 10 0.66056 D 0.02 -8.169 5.1547 0.15029 0.2783:0.1531:0.5686:0.0 . 435 Q8TF39 ZN483_HUMAN A 435 ENSP00000311679:G435A ENSP00000311679:G435A G + 2 0 ZNF483 113344340 0.988000 0.35896 0.063000 0.19743 0.538000 0.34931 1.257000 0.32932 0.066000 0.16515 0.650000 0.86243 GGA TCGA-HZ-8315-01A-11D-2396-08 ZNF483-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053641.1 1 0 1 62 392 0 62 0 0 0 0 62 2 0 0 0 0 0 2 1 1.000000 62 390 0 62 2 0 0 0 0 62 2 -2.966719 1 1 0 0 1 0 1 1 2.014283 0 0.270000 1.940000 0.269013 0.990000 0.780000 1.000000 1.000000 0.960360 0.990000 1 8.900000e-01 1 DDX31 64794 broad.mit.edu 37 9 135505739 135505739 + Missense_Mutation SNP C C A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr9:135505739C>A ENST00000372159.3 - 16 2009 c.1858G>T c.(1858-1860)Gcc>Tcc p.A620S DDX31_ENST00000438527.3_Missense_Mutation_p.A491S|DDX31_ENST00000372153.1_Silent_p.P611P NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 27 CCAATCCGGGCGGTTCTTCCA 0.478000 0 SO:0001583 missense ENST00000372159.3 1 1 hg19 CCDS6951.1 . . . . . . . . . . C 24.8 4.576160 0.86645 . . ENSG00000125485 ENST00000372159;ENST00000372155;ENST00000438527 T;T 0.77358 -1.09;-1.09 5.54 5.54 0.83059 Helicase, C-terminal (3); 0.045953 0.85682 D 0.000000 D 0.90280 0.6960 M 0.89214 3.015 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.91727 0.5393 10 0.87932 D 0 -21.3098 18.551 0.91065 0.0:1.0:0.0:0.0 . 620 Q9H8H2 DDX31_HUMAN S 620;620;491 ENSP00000361232:A620S;ENSP00000387730:A491S ENSP00000361228:A620S A - 1 0 DDX31 134495560 1.000000 0.71417 0.991000 0.47740 0.920000 0.55202 6.339000 0.72969 2.619000 0.88677 0.650000 0.86243 GCC TCGA-HZ-8315-01A-11D-2396-08 DDX31-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000054794.1 1 0 1 82 675 0 116 1 5.971098e-01 5 13 0 116 2 0 0 0 0 0 2 1 1.000000 82 668 0 116 2 0 0 0 0 116 2 -3.318794 1 1 0 0 1 0 1 1 2.014283 0 0.270000 1.940000 0.269013 0.790000 0.640000 0.960000 0.800000 0.805574 0.790000 0 7.100000e-01 8.900000e-01 MAN1B1 11253 broad.mit.edu 37 9 139994279 139994279 + Missense_Mutation SNP G G A rs138090529 byFrequency TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr9:139994279G>A ENST00000371589.4 + 6 935 c.862G>A c.(862-864)Ggt>Agt p.G288S MAN1B1_ENST00000474902.1_5'UTR NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) GTTTGGCCTCGGTCTCACACT 0.582000 0 SO:0001583 missense ENST00000371589.4 1 1 hg19 CCDS7029.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 19.47|19.47 3.834053|3.834053 0.71373|0.71373 0.001589|0.001589 0.0|0.0 ENSG00000177239|ENSG00000177239 ENST00000371589|ENST00000535144 T|. 0.73469|. -0.75|. 4.79|4.79 4.79|4.79 0.61399|0.61399 .|. 0.000000|. 0.64402|. U|. 0.000001|. T|T 0.73321|0.73321 0.3572|0.3572 M|M 0.69248|0.69248 2.105|2.105 0.80722|0.80722 D|D 1|1 D;D;D;D|. 0.89917|. 1.0;1.0;1.0;1.0|. D;D;D;D|. 0.97110|. 1.0;0.997;0.997;0.999|. T|T 0.73603|0.73603 -0.3930|-0.3930 9|5 .|. .|. .|. -24.0316|-24.0316 16.7961|16.7961 0.85602|0.85602 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 189;252;288;189|. B4DPS9;B4DR05;Q9UKM7;Q68D80|. .;.;MA1B1_HUMAN;.|. S|Q 288|261 ENSP00000360645:G288S|. .|. G|R +|+ 1|2 0|0 MAN1B1|MAN1B1 139114100|139114100 1.000000|1.000000 0.71417|0.71417 0.994000|0.994000 0.49952|0.49952 0.045000|0.045000 0.14185|0.14185 9.492000|9.492000 0.97957|0.97957 2.221000|2.221000 0.72209|0.72209 0.561000|0.561000 0.74099|0.74099 GGT|CGG TCGA-HZ-8315-01A-11D-2396-08 MAN1B1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055294.2 1 0 1 68 367 0 102 1 9.999997e-01 27 92 0 102 2 0 0 0 0 0 2 1 1.000000 68 364 0 101 2 0 0 0 0 102 2 -2.478464 0 1 121412 14 45 1 0 1 1 2.014283 0 0.270000 1.940000 0.269013 0.990000 0.910000 1.000000 1.000000 0.994466 0.990000 1 9.900000e-01 1 EXD3 54932 broad.mit.edu 37 9 140218269 140218269 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr9:140218269C>T ENST00000340951.4 - 19 2287 c.2092G>A c.(2092-2094)Gac>Aac p.D698N EXD3_ENST00000342129.4_Missense_Mutation_p.D349N NM_017820.3 NP_060290.3 Q9NX53 MUT7B_HUMAN exonuclease 3'-5' domain containing 3 12 AGGGAGCAGTCGACCGAGAGG 0.672000 0 SO:0001583 missense ENST00000340951.4 1 1 hg19 CCDS48066.1 . . . . . . . . . . C 3.497 -0.102696 0.06967 . . ENSG00000187609 ENST00000342129;ENST00000340951 T;T 0.63417 -0.04;0.62 3.9 1.53 0.23141 . 0.123662 0.53938 D 0.000054 T 0.35307 0.0927 N 0.13235 0.315 0.24060 N 0.996012 P;P 0.46064 0.872;0.87 B;B 0.40134 0.274;0.32 T 0.27191 -1.0081 10 0.14252 T 0.57 . 5.8079 0.18450 0.0:0.6142:0.0:0.3858 . 349;698 Q8N9H8-3;Q8N9H8 .;MUT7_HUMAN N 349;698 ENSP00000343705:D349N;ENSP00000340474:D698N ENSP00000340474:D698N D - 1 0 EXD3 139338090 0.153000 0.22777 0.245000 0.24217 0.031000 0.12232 0.399000 0.20916 0.567000 0.29293 0.305000 0.20034 GAC TCGA-HZ-8315-01A-11D-2396-08 EXD3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000343182.1 1 0 1 21 143 0 37 1 8.826903e-01 3 25 0 37 2 0 0 0 0 0 2 1 0.999998 21 139 0 37 2 0 0 0 0 37 2 -20.000000 1 1 120438 2 31 1 0 1 1 2.014283 0 0.270000 1.940000 0.269013 0.940000 0.610000 1.000000 1.000000 0.904131 0.940000 1 7.600000e-01 1 CACNA1B 774 broad.mit.edu 37 9 140952517 140952517 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr9:140952517G>A ENST00000371372.1 + 28 4268 c.4123G>A c.(4123-4125)Gtg>Atg p.V1375M CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1375M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V571M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1376M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1375M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1376M NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 80 all_cancers(76;0.166) Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661) GAAACACTCCGTGGATGCCAC 0.557000 0 SO:0001583 missense ENST00000371372.1 1 1 hg19 CCDS59522.1 . . . . . . . . . . G 20.1 3.939034 0.73557 . . ENSG00000148408 ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355 D;D;D;D;D;D 0.98264 -4.83;-4.83;-4.83;-4.83;-4.83;-4.83 5.33 5.33 0.75918 . 0.120881 0.56097 D 0.000031 D 0.96571 0.8881 N 0.01809 -0.71 0.80722 D 1 B;D;D 0.89917 0.219;1.0;1.0 B;D;D 0.80764 0.052;0.994;0.994 D 0.97604 1.0125 10 0.38643 T 0.18 . 19.4443 0.94840 0.0:0.0:1.0:0.0 . 1375;1376;1375 B1AQK4;B1AQK7;B1AQK6 .;.;. M 1375;1375;571;1375;1376;1376 ENSP00000360423:V1375M;ENSP00000277551:V1375M;ENSP00000277549:V571M;ENSP00000360414:V1375M;ENSP00000360408:V1376M;ENSP00000360406:V1376M ENSP00000277549:V571M V + 1 0 CACNA1B 140072338 1.000000 0.71417 0.938000 0.37757 0.920000 0.55202 9.725000 0.98778 2.682000 0.91365 0.555000 0.69702 GTG TCGA-HZ-8315-01A-11D-2396-08 CACNA1B-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055380.1 1 0 1 36 262 0 47 0 0 0 0 47 2 0 0 0 0 0 2 1 1.000000 36 260 0 47 2 0 0 0 0 47 2 -15.479160 1 1 120952 4 37 1 0 1 1 2.014283 0 0.270000 1.940000 0.269013 0.890000 0.640000 1.000000 1.000000 0.882651 0.890000 1 7.600000e-01 1 MELK 9833 broad.mit.edu 37 9 36651774 36651774 + Missense_Mutation SNP T T G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chr9:36651774T>G ENST00000298048.2 + 12 1137 c.953T>G c.(952-954)cTt>cGt p.L318R MELK_ENST00000541717.1_Missense_Mutation_p.L318R|MELK_ENST00000543751.1_Missense_Mutation_p.L286R|MELK_ENST00000536329.1_Missense_Mutation_p.L247R|MELK_ENST00000545008.1_Missense_Mutation_p.L247R|MELK_ENST00000538311.1_Missense_Mutation_p.L124R|MELK_ENST00000536987.1_Missense_Mutation_p.L187R|MELK_ENST00000536860.1_Missense_Mutation_p.L270R NM_014791.3 NP_055606.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) GCTACCTATCTTCTGCTTCTA 0.418000 Ovarian(82;980 1317 7225 14391 18624) 0 SO:0001583 missense ENST00000298048.2 0 1 hg19 CCDS6606.1 . . . . . . . . . . T 18.91 3.723067 0.68959 . . ENSG00000165304 ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751 T;T;T;T;T;T;T;T 0.73575 -0.56;0.41;0.19;0.72;0.1;-0.76;-0.46;-0.57 5.63 4.45 0.53987 . 0.056841 0.64402 D 0.000001 T 0.80581 0.4650 L 0.57536 1.79 0.58432 D 0.999995 D;D;P;P;D;P;P 0.62365 0.983;0.982;0.746;0.548;0.991;0.923;0.761 D;D;P;B;P;P;B 0.65684 0.937;0.914;0.508;0.328;0.86;0.771;0.21 T 0.81158 -0.1060 10 0.59425 D 0.04 -12.4522 9.0796 0.36542 0.162:0.0:0.0:0.838 . 238;247;270;318;247;286;318 B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680 .;.;.;.;.;.;MELK_HUMAN R 318;124;187;247;270;247;318;286 ENSP00000298048:L318R;ENSP00000438226:L124R;ENSP00000439184:L187R;ENSP00000445452:L247R;ENSP00000439792:L270R;ENSP00000443550:L247R;ENSP00000437804:L318R;ENSP00000441596:L286R ENSP00000298048:L318R L + 2 0 MELK 36641774 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.724000 0.47285 2.145000 0.66743 0.533000 0.62120 CTT TCGA-HZ-8315-01A-11D-2396-08 MELK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052428.3 0 0 0 28 1423 0 242 0 1.649973e-02 0 10 0 242 2 0 0 0 0 0 2 1 1.000000 27 1410 0 240 2 0 0 0 0 242 2 -2.969780 1 1 0 0 1 1 2 3 2.024828 0 0.270000 1.940000 0.271966 0.140000 0.090000 0.210000 0.140000 0.156312 0.140000 0 1.100000e-01 1.800000e-01 ARHGAP6 395 broad.mit.edu 37 X 11157013 11157013 + Silent SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chrX:11157013G>A ENST00000337414.4 - 13 3767 c.2895C>T c.(2893-2895)aaC>aaT p.N965N ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Silent_p.N762N|ARHGAP6_ENST00000380736.1_Silent_p.N762N NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 38 GGGCATCGGGGTTGTCGGTCG 0.741000 0 SO:0001819 synonymous_variant ENST00000337414.4 0 1 hg19 CCDS14140.1 TCGA-HZ-8315-01A-11D-2396-08 ARHGAP6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055760.2 1 0 0 6 56 0 10 0 3.565390e-02 0 3 0 10 2 0 0 0 0 0 2 1 0.964019 6 55 0 10 2 0 0 0 0 10 2 -14.399860 1 1 0 0 1 0 1 1 0.270000 1.940000 0.270000 0.730000 0.320000 1.000000 1.000000 0.738314 0.730000 0 5.000000e-01 1 DCAF12L2 340578 broad.mit.edu 37 X 125298663 125298663 + Silent SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chrX:125298663G>A ENST00000360028.2 - 1 1271 c.1245C>T c.(1243-1245)gaC>gaT p.D415D DCAF12L2_ENST00000538699.1_Silent_p.D415D Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 64 TCACCCAGACGTCATCTTGGT 0.617000 0 SO:0001819 synonymous_variant ENST00000360028.2 1 1 hg19 CCDS43991.1 TCGA-HZ-8315-01A-11D-2396-08 DCAF12L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058181.1 1 0 0 120 778 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 1.000000 119 765 0 99 2 0 0 0 0 101 2 -20.000000 1 1 121408 2 34 1 0 1 1 0.270000 1.940000 0.270000 0.980000 0.820000 1.000000 1.000000 0.962663 0.980000 1 9.000000e-01 1 MTM1 4534 broad.mit.edu 37 X 149839952 149839952 + Missense_Mutation SNP G G A TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chrX:149839952G>A ENST00000370396.2 + 15 1750 c.1696G>A c.(1696-1698)Gaa>Aaa p.E566K MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E451K|MTM1_ENST00000413012.2_Missense_Mutation_p.E529K|MTM1_ENST00000542741.1_3'UTR NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 p.E566K(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) CTTACGCGACGAATACATAAA 0.522000 1 Substitution - Missense(1) SO:0001583 missense ENST00000370396.2 1 1 hg19 CCDS14694.1 . . . . . . . . . . G 11.92 1.781327 0.31502 . . ENSG00000171100 ENST00000370396;ENST00000543350;ENST00000413012 D;D;D 0.96011 -3.88;-3.65;-3.85 4.85 4.85 0.62838 . 0.256266 0.40554 N 0.001065 D 0.91690 0.7373 L 0.28400 0.85 0.34666 D 0.723206 B;B 0.31435 0.323;0.323 B;B 0.25884 0.064;0.064 D 0.94029 0.7299 10 0.72032 D 0.01 . 17.4112 0.87486 0.0:0.0:1.0:0.0 . 529;566 B7Z491;Q13496 .;MTM1_HUMAN K 566;451;529 ENSP00000359423:E566K;ENSP00000439784:E451K;ENSP00000389157:E529K ENSP00000359423:E566K E + 1 0 MTM1 149590610 1.000000 0.71417 0.022000 0.16811 0.059000 0.15707 5.349000 0.66010 2.123000 0.65237 0.600000 0.82982 GAA TCGA-HZ-8315-01A-11D-2396-08 MTM1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060847.3 1 0 1 40 292 0 65 0 8.874977e-01 0 30 0 65 2 0 0 0 0 0 2 1 1.000000 40 289 0 62 2 0 0 0 0 65 2 -20.000000 1 1 0 0 1 0 1 1 0.270000 1.940000 0.270000 0.880000 0.650000 1.000000 1.000000 0.883291 0.880000 1 7.600000e-01 1 RBBP7 5931 broad.mit.edu 37 X 16876907 16876907 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chrX:16876907C>T ENST00000380087.2 - 4 733 c.373G>A c.(373-375)Gaa>Aaa p.E125K RBBP7_ENST00000404022.1_Missense_Mutation_p.E116K|RBBP7_ENST00000380084.4_Missense_Mutation_p.E169K Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 25 Hepatocellular(33;0.0997) CGGTTTACTTCTCCTTCGTGA 0.393000 0 SO:0001583 missense ENST00000380087.2 1 1 hg19 CCDS14179.1 . . . . . . . . . . C 34 5.395799 0.96009 . . ENSG00000102054 ENST00000380087;ENST00000380084;ENST00000404022;ENST00000416035 T;T;T;T 0.65732 -0.17;-0.17;-0.17;-0.01 5.17 5.17 0.71159 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 D 0.85762 0.5772 H 0.96720 3.87 0.80722 D 1 P;D;D 0.76494 0.932;0.999;0.976 P;D;P 0.68765 0.631;0.96;0.494 D 0.90904 0.4771 10 0.87932 D 0 -0.0253 16.9044 0.86122 0.0:1.0:0.0:0.0 . 116;125;169 E9PC52;Q16576;Q5JP00 .;RBBP7_HUMAN;. K 125;169;116;45 ENSP00000369427:E125K;ENSP00000369424:E169K;ENSP00000386068:E116K;ENSP00000392714:E45K ENSP00000369424:E169K E - 1 0 RBBP7 16786828 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.772000 0.85439 2.286000 0.76751 0.594000 0.82650 GAA TCGA-HZ-8315-01A-11D-2396-08 RBBP7-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055920.2 1 0 1 68 494 0 79 1 1 221 206 0 79 2 0 0 0 0 0 2 1 1.000000 66 491 0 79 2 0 0 0 0 79 2 -20.000000 1 1 0 0 1 0 1 1 0.270000 1.940000 0.270000 0.890000 0.700000 1.000000 1.000000 0.892026 0.890000 1 7.900000e-01 1 NLGN3 54413 broad.mit.edu 37 X 70367846 70367846 + Missense_Mutation SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chrX:70367846C>T ENST00000358741.3 + 2 550 c.247C>T c.(247-249)Cgt>Tgt p.R83C NLGN3_ENST00000536169.1_Missense_Mutation_p.R83C|NLGN3_ENST00000374051.3_Missense_Mutation_p.R83C NM_181303.1 NP_851820.1 Q9NZ94 NLGN3_HUMAN neuroligin 3 37 Renal(35;0.156) CGGCGAGAAACGTTTCCTGCC 0.642000 Esophageal Squamous(103;760 1488 16849 22250 40351) 0 SO:0001583 missense ENST00000358741.3 1 1 hg19 CCDS55441.1 . . . . . . . . . . C 17.46 3.395069 0.62066 . . ENSG00000196338 ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741 D;D;D;D 0.82344 -1.6;-1.6;-1.6;-1.6 4.41 4.41 0.53225 . 0.000000 0.85682 D 0.000000 D 0.94915 0.8356 H 0.99425 4.56 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.96501 0.9371 10 0.87932 D 0 . 13.1622 0.59550 0.1595:0.8405:0.0:0.0 . 83;83;83 D3DVV1;B7Z5Y1;Q9NZ94-2 .;.;. C 83 ENSP00000445298:R83C;ENSP00000363163:R83C;ENSP00000379196:R83C;ENSP00000351591:R83C ENSP00000351591:R83C R + 1 0 NLGN3 70284571 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 2.908000 0.48750 2.044000 0.60594 0.436000 0.28706 CGT TCGA-HZ-8315-01A-11D-2396-08 NLGN3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057121.1 1 0 1 26 157 0 37 0 2.173538e-02 0 2 0 37 2 0 0 0 0 0 2 1 1.000000 26 151 0 35 2 0 0 0 0 37 2 -20.000000 1 1 0 0 1 0 1 1 0.270000 1.940000 0.270000 0.990000 0.710000 1.000000 1.000000 0.954204 0.990000 1 8.700000e-01 1 ABCB7 22 broad.mit.edu 37 X 74282184 74282184 + Silent SNP C C T TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chrX:74282184C>T ENST00000373394.3 - 14 1921 c.1914G>A c.(1912-1914)tcG>tcA p.S638S ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000339447.4_Silent_p.S598S|ABCB7_ENST00000253577.3_Silent_p.S639S O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 20 TCGAATCTAACGATGAAGTAG 0.353000 0 SO:0001819 synonymous_variant ENST00000373394.3 1 1 hg19 TCGA-HZ-8315-01A-11D-2396-08 ABCB7-002 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000057274.1 1 0 1 41 258 0 42 0 9.993014e-01 0 72 0 42 2 0 0 0 0 0 2 1 1.000000 40 256 0 42 2 0 0 0 0 42 2 -18.697620 1 1 121386 1 38 1 0 1 1 0.270000 1.940000 0.270000 0.990000 0.740000 1.000000 1.000000 0.953382 0.990000 1 8.700000e-01 1 CYLC1 1538 broad.mit.edu 37 X 83128929 83128929 + Missense_Mutation SNP T T G TCGA-HZ-8315-01A-11D-2396-08 TCGA-HZ-8315-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fde75dc0-9d77-41e0-b20e-df1f53944288 0f6b2835-2fa6-48d2-9d05-1a6db3f410af g.chrX:83128929T>G ENST00000329312.4 + 4 1250 c.1213T>G c.(1213-1215)Ttc>Gtc p.F405V NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 58 GAAAATTACATTCTCTACTGA 0.318000 0 SO:0001583 missense ENST00000329312.4 0 1 hg19 CCDS35341.1 . . . . . . . . . . t 0.010 -1.788629 0.00623 . . ENSG00000183035 ENST00000329312;ENST00000544771 T 0.17370 2.28 3.29 -0.897 0.10553 . . . . . T 0.03959 0.0111 N 0.02011 -0.69 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.37934 -0.9684 9 0.02654 T 1 29.047 2.6173 0.04907 0.2556:0.0:0.3484:0.396 . 405;405 P35663;F5H4V5 CYLC1_HUMAN;. V 405 ENSP00000331556:F405V ENSP00000331556:F405V F + 1 0 CYLC1 83015585 0.000000 0.05858 0.000000 0.03702 0.060000 0.15804 -0.233000 0.09041 -0.546000 0.06216 -0.175000 0.13238 TTC TCGA-HZ-8315-01A-11D-2396-08 CYLC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057371.1 1 0 1 18 123 0 14 0 0 0 0 14 2 0 0 0 0 0 2 1 0.999987 18 122 0 13 2 0 0 0 0 14 2 -3.024453 1 1 0 0 1 0 1 1 0.270000 1.940000 0.270000 0.940000 0.590000 1.000000 1.000000 0.899132 0.940000 1 7.500000e-01 1