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 OR51F2 119694 broad.mit.edu 37 11 4843497 4843497 + Missense_Mutation SNP T T G TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:4843497T>G ENST00000322110.5 + 1 947 c.882T>G c.(880-882)ttT>ttG p.F294L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) CCAATGTCTTTCTGCTAATCC 0.423000 0 SO:0001583 missense ENST00000322110.5 1 1 hg19 CCDS31361.1 . . . . . . . . . . T 15.120000 2.739947 0.490450 . . ENSG00000176925 ENST00000322110 T 0.00036 8.86 4.710000 3.790000 0.435880 GPCR, rhodopsin-like superfamily (1); 1.791850e-01 0.266840 U 2.303100e-02 T 0.00210 0.0006 L 0.48642 1.525 0.093100 N 0.999996 P 0.43287 0.802 P 0.47251 0.542 T 0.46527 -0.9185 10 0.87932 D 0 . 11.197800 0.487240 0.0:0.907:0.0:0.093 . 294 Q8NH61 O51F2_HUMAN L 294 ENSP00000323952:F294L ENSP00000323952:F294L F + 3 2 OR51F2 4800073 0 0.058580 9.280000e-01 0.369950 6.190000e-01 0.375520 -0.058000 0.117500 1.312000 0.450430 -0.366000 0.074230 TTT TCGA-HZ-7925-01A-11D-2154-08 OR51F2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000142181.1 1 0 0 22 457 0 69 0 0 0 0 69 2 0 0 0 0 0 2 1 0.999999 22 446 0 68 2 0 0 0 0 69 2 -4.911525 1 1 0 0 1 0 1 1 2.018944 0 0.240000 1.910000 0.238172 0.380000 0.240000 0.550000 0.380000 0.394870 0.380000 0 0.300000 0.470000 NAALAD2 10003 broad.mit.edu 37 11 89891358 89891358 + Missense_Mutation SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr11:89891358G>A ENST00000534061.1 + 7 1072 c.842G>A c.(841-843)cGa>cAa p.R281Q NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000525171.1_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GGAATCCCCCGAATACCTGTA 0.313000 0 SO:0001583 missense ENST00000534061.1 1 1 hg19 CCDS8288.1 . . . . . . . . . . G 13.600000 2.285494 0.403940 . . ENSG00000077616 ENST00000534061;ENST00000321955 T;T 0.41758 0.99;0.99 5.130000 3.990000 0.463010 . 7.974990e-01 0.117310 N 5.349860e-01 T 0.21801 0.0525 N 0.05414 -0.055 0.807220 D 1.000000 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.05084 -1.0907 9 . . . 0.2934 8.417500 0.326810 0.8469:0.0:0.1531:0.0 . 281;281 Q9Y3Q0;Q8IUX3 NALD2_HUMAN;. Q 281 ENSP00000432481:R281Q;ENSP00000320083:R281Q . R + 2 0 NAALAD2 89531006 9.680000e-01 0.334300 4.430000e-01 0.268830 9.820000e-01 0.717510 3.300000 0.518340 0.919000 0.369450 -0.341000 0.080070 CGA TCGA-HZ-7925-01A-11D-2154-08 NAALAD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389424.2 1 0 1 62 541 0 163 0 8.828288e-02 0 5 0 163 2 0 0 0 0 0 2 1 1.000000 62 531 0 161 2 0 0 0 0 163 2 -18.681520 1 1 121404 2 41 1 0 1 1 2.013716 0 0.240000 1.910000 0.236334 0.840000 0.660000 1.000000 1.000000 0.854274 0.840000 0 0.750000 0.960000 GIT2 9815 broad.mit.edu 37 12 110397662 110397662 + Silent SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:110397662C>T ENST00000355312.3 - 12 1088 c.1089G>A c.(1087-1089)tcG>tcA p.S363S GIT2_ENST00000551209.1_Silent_p.S362S|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000356259.4_Silent_p.S363S|GIT2_ENST00000338373.5_Silent_p.S363S|GIT2_ENST00000360185.4_Silent_p.S363S|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000354574.4_Silent_p.S365S|GIT2_ENST00000553118.1_Silent_p.S363S|GIT2_ENST00000547815.1_Silent_p.S363S|GIT2_ENST00000320063.9_Silent_p.S363S|GIT2_ENST00000361006.5_Silent_p.S363S|GIT2_ENST00000457474.2_Silent_p.S365S NM_057169.3 NP_476510.1 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 27 CTTTTGAACCCGAGAGAGAAC 0.453000 0 SO:0001819 synonymous_variant ENST00000355312.3 1 0 hg19 CCDS9138.1 TCGA-HZ-7925-01A-11D-2154-08 GIT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403407.1 1 0 0 17 164 0 41 1 9.923169e-01 10 69 0 41 2 0 0 0 0 0 2 1 0.999969 15 163 0 40 2 0 0 0 0 41 2 -2.716771 1 1 0 0 1 0 0 0 1.991019 0 0.240000 1.910000 0.227014 0.770000 0.470000 1.000000 1.000000 0.778179 0.770000 0 0.610000 0.960000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V 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 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.200000 4.808637 0.907070 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0 0.856820 D 0 D 0.90373 0.6987 M 0.90650 3.135 0.807220 D 1.000000 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.371900 0.904090 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 1 0.714170 1 0.803570 9.980000e-01 0.957120 7.743000 0.850200 2.668000 0.907890 0.563000 0.778840 GGT TCGA-HZ-7925-01A-11D-2154-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 14 113 0 28 1 8.728364e-01 8 24 0 28 2 1 1 44 543 0 321 2 1 0.999812 14 113 0 28 2 1 1 910 7111 0 28 2 -8.430733 1 1 0 0 1 0 0 0 2.003904 0 0.240000 1.910000 0.230769 0.900000 0.530000 1.000000 1.000000 0.871138 0.900000 1 0.700000 1.000000 CTSG 1511 broad.mit.edu 37 14 25043947 25043947 + Silent SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr14:25043947C>T ENST00000216336.2 - 3 309 c.273G>A c.(271-273)gcG>gcA p.A91A NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G p.A91A(1) 25 TGGCTCTGCGCGCAGTGATGT 0.532000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000216336.2 1 1 hg19 CCDS9631.1 TCGA-HZ-7925-01A-11D-2154-08 CTSG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276536.2 1 0 1 103 365 0 82 0 1.258312e-01 0 3 0 82 2 0 0 0 0 0 2 1 1.000000 101 356 0 82 2 0 0 0 0 82 2 -20.000000 1 1 0 0 1 0 2 2 2.022990 1 0.240000 1.910000 0.240000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 TLN2 83660 broad.mit.edu 37 15 62993388 62993388 + Silent SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:62993388G>A ENST00000561311.1 + 16 1901 c.1671G>A c.(1669-1671)acG>acA p.T557T TLN2_ENST00000306829.6_Silent_p.T557T Q9Y4G6 TLN2_HUMAN talin 2 99 CGGCCGGAACGGCTTCAGTTG 0.418000 0 SO:0001819 synonymous_variant ENST00000561311.1 1 1 hg19 CCDS32261.1 TCGA-HZ-7925-01A-11D-2154-08 TLN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257878.2 1 0 1 38 220 0 33 0 8.833369e-01 1 23 0 33 2 0 0 0 0 0 2 1 1.000000 38 216 0 33 2 0 0 0 0 33 2 -2.928209 1 1 121412 1 31 1 0 1 1 2.013467 0 0.240000 1.910000 0.236334 0.990000 0.890000 1.000000 1.000000 0.992841 0.990000 1 0.990000 1.000000 RASGRF1 5923 broad.mit.edu 37 15 79296394 79296394 + Silent SNP C C T rs140968213 TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr15:79296394C>T ENST00000419573.3 - 16 2521 c.2247G>A c.(2245-2247)tcG>tcA p.S749S RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 71 GGCTCGGTGACGATGTCTTGG 0.637000 0 SO:0001819 synonymous_variant ENST00000419573.3 1 1 hg19 CCDS10309.1 TCGA-HZ-7925-01A-11D-2154-08 RASGRF1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000291371.3 1 0 1 52 431 0 63 1 6.235409e-02 2 2 0 63 2 0 0 0 0 0 2 1 1.000000 51 414 0 61 2 0 0 0 0 63 2 -17.981250 1 1 121406 4 38 1 0 0 0 2.004604 0 0.240000 1.910000 0.230769 0.880000 0.670000 1.000000 1.000000 0.881314 0.880000 1 0.770000 1.000000 CENPT 80152 broad.mit.edu 37 16 67863789 67863789 + Silent SNP G G C TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr16:67863789G>C ENST00000562787.1 - 12 1613 c.1065C>G c.(1063-1065)ccC>ccG p.P355P CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.P355P|CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000562947.1_5'Flank NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T p.P355P(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) CTACCCTGCTGGGTCCTTGTG 0.547000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000562787.1 1 1 hg19 CCDS42182.1 TCGA-HZ-7925-01A-11D-2154-08 CENPT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000422020.1 1 0 0 159 1070 0 226 1 9.997085e-01 14 65 0 226 2 0 0 0 0 0 2 1 1.000000 153 1019 0 225 2 0 0 0 0 226 2 -2.489490 0 1 0 0 1 0 1 1 2.011944 0 0.240000 1.910000 0.236334 0.990000 0.910000 1.000000 1.000000 0.993040 0.990000 1 0.990000 1.000000 MPO 4353 broad.mit.edu 37 17 56356676 56356676 + Silent SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:56356676G>A ENST00000225275.3 - 5 836 c.660C>T c.(658-660)aaC>aaT p.N220N MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Silent_p.N252N NM_000250.1 NP_000241.1 P05164 PERM_HUMAN myeloperoxidase 46 Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500) CCGGGAAGCCGTTGCGCTTGA 0.731000 0 SO:0001819 synonymous_variant ENST00000225275.3 0 1 hg19 CCDS11604.1 TCGA-HZ-7925-01A-11D-2154-08 MPO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000443971.1 1 0 0 9 43 0 8 0 0 0 0 8 2 0 0 0 0 0 2 1 0.995200 9 42 0 8 2 0 0 0 0 8 2 -18.299640 1 1 117530 2 26 1 0 1 1 2.016521 0 0.240000 1.910000 0.238172 0.990000 0.720000 1.000000 1.000000 0.978085 0.990000 1 0.990000 1.000000 TP53 7157 broad.mit.edu 37 17 7578525 7578525 + Nonsense_Mutation SNP G G T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 G T G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr17:7578525G>T ENST00000269305.4 - 5 594 c.405C>A c.(403-405)tgC>tgA p.C135* TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C135*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135* 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.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) TGGCCAGTTGGCAAAACATCT 0.567000 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 68 Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1) SO:0001587 stop_gained Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 . . . . . . . . . . G 25.800000 4.678815 0.885420 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793 . . . 5.480000 3.500000 0.400720 . 0 0.856820 D 0 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.02654 T 1 -26.815 10.022200 0.420510 0.1647:0.0:0.8353:0.0 . . . . X 135;135;135;135;135;135;124;42;3;42;3;135 . ENSP00000269305:C135X C - 3 2 TP53 7519250 1 0.714170 1 0.803570 7.860000e-01 0.444420 0.645000 0.247820 0.798000 0.339940 0.655000 0.942530 TGC TCGA-HZ-7925-01A-11D-2154-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 24 174 0 40 1 9.996896e-01 3 93 0 40 2 1 1 272 1747 0 1456 2 1 1.000000 23 166 0 40 2 0 0 0 0 40 2 -20.000000 1 1 0 0 1 0 1 1 1.772918 1 0.240000 1.910000 0.136364 0.820000 0.570000 0.990000 0.860000 0.819381 0.820000 0 0.690000 0.940000 SYT3 84258 broad.mit.edu 37 19 51133283 51133283 + Silent SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr19:51133283G>A ENST00000338916.4 - 3 1453 c.820C>T c.(820-822)Ctg>Ttg p.L274L SYT3_ENST00000593901.1_Silent_p.L274L|SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000544769.1_Silent_p.L274L NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 35 all_neural(266;0.131) CCCTGGTACAGCTCTGGCTTA 0.677000 0 SO:0001819 synonymous_variant ENST00000338916.4 1 1 hg19 CCDS12798.1 TCGA-HZ-7925-01A-11D-2154-08 SYT3-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464910.1 1 0 1 81 556 0 94 0 0 0 0 94 2 0 0 0 0 0 2 1 1.000000 80 545 0 94 2 0 0 0 0 94 2 -3.221884 1 1 0 0 1 1 2 3 2.035257 0 0.240000 1.910000 0.244533 0.990000 0.850000 1.000000 1.000000 0.983849 0.990000 1 0.950000 1.000000 ZC3H11A 9877 broad.mit.edu 37 1 203798664 203798664 + Missense_Mutation SNP G G T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:203798664G>T ENST00000545588.1 + 5 4211 c.384G>T c.(382-384)caG>caT p.Q128H ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTCTGTCCAGTCCAATCCTT 0.478000 0 SO:0001583 missense ENST00000545588.1 0 1 hg19 CCDS30978.1 . . . . . . . . . . G 27.300000 4.819026 0.908730 . . ENSG00000058673 ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210 T;T;T;T;T 0.50001 0.76;0.76;0.76;0.76;0.76 5.870000 5.870000 0.943060 . 2.385430e-01 0.434160 D 5.630000e-04 T 0.65460 0.2693 L 0.55481 1.735 0.477370 D 0.999509 D 0.89917 1.0 D 0.78314 0.991 T 0.63800 -0.6555 10 0.59425 D 0.04 -26.9465 17.496900 0.877200 0.0:0.0:1.0:0.0 . 128 O75152 ZC11A_HUMAN H 128;128;74;128;128;128;128 ENSP00000356183:Q128H;ENSP00000356181:Q128H;ENSP00000333253:Q128H;ENSP00000438527:Q128H;ENSP00000356179:Q128H ENSP00000333253:Q128H Q + 3 2 ZC3H11A 202065287 1 0.714170 1 0.803570 9.930000e-01 0.825480 1.089000 0.308900 2.941000 0.997820 0.655000 0.942530 CAG TCGA-HZ-7925-01A-11D-2154-08 ZC3H11A-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087471.3 1 0 0 53 523 0 94 1 9.992557e-01 17 89 0 94 2 0 0 0 0 0 2 1 1.000000 51 448 0 102 2 0 0 0 0 94 2 -20.000000 1 1 0 0 1 1 2 3 2.262092 1 0.240000 1.910000 0.320701 0.850000 0.650000 1.000000 1.000000 0.860131 0.850000 1 0.750000 0.980000 KCNH1 3756 broad.mit.edu 37 1 211256132 211256132 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:211256132C>T ENST00000271751.4 - 5 575 c.548G>A c.(547-549)cGc>cAc p.R183H KCNH1_ENST00000367007.4_Missense_Mutation_p.R183H O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 68 CTCTGCCAGGCGGGAGTGCTT 0.547000 0 SO:0001583 missense ENST00000271751.4 1 1 hg19 CCDS1496.1 . . . . . . . . . . C 18.170000 3.564274 0.656510 . . ENSG00000143473 ENST00000271751;ENST00000367007 D;D 0.98958 -5.21;-5.27 4.970000 4.970000 0.658230 . 0 0.856820 D 0 D 0.96806 0.8957 L 0.41710 1.295 0.807220 D 1.000000 B;B 0.15141 0.008;0.012 B;B 0.14023 0.006;0.01 D 0.94651 0.7839 10 0.39692 T 0.17 . 17.624300 0.880900 0.0:1.0:0.0:0.0 . 183;183 Q14CL3;O95259 .;KCNH1_HUMAN H 183 ENSP00000271751:R183H;ENSP00000355974:R183H ENSP00000271751:R183H R - 2 0 KCNH1 209322755 1 0.714170 1 0.803570 9.860000e-01 0.746190 7.383000 0.797410 2.477000 0.836380 0.561000 0.740990 CGC TCGA-HZ-7925-01A-11D-2154-08 KCNH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088332.1 1 0 1 148 501 0 98 0 0 0 0 98 2 0 0 0 0 0 2 1 1.000000 145 491 0 97 2 0 0 0 0 98 2 -20.000000 1 1 121412 1 31 1 1 2 3 2.262092 1 0.240000 1.910000 0.320701 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 USH2A 7399 broad.mit.edu 37 1 216498693 216498693 + Missense_Mutation SNP T T C TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:216498693T>C ENST00000307340.3 - 6 1483 c.1097A>G c.(1096-1098)aAt>aGt p.N366S USH2A_ENST00000366943.2_Missense_Mutation_p.N366S|USH2A_ENST00000366942.3_Missense_Mutation_p.N366S NM_206933.2 NP_996816 O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 527 CACTCCTTGATTAAGCTGTGT 0.363000 HNSCC(13;0.011) 0 SO:0001583 missense ENST00000307340.3 1 1 hg19 CCDS31025.1 . . . . . . . . . . T 9.139000 1.013265 0.192770 . . ENSG00000042781 ENST00000307340;ENST00000366943;ENST00000366942 T;T;T 0.19806 2.55;2.54;2.12 5.360000 4.230000 0.500190 Laminin, N-terminal (3); 9.635310e-01 0.084810 N 9.395880e-01 T 0.19485 0.0468 L 0.45228 1.405 0.093100 N 1.000000 B;B 0.11235 0.004;0.001 B;B 0.08055 0.003;0.002 T 0.35773 -0.9775 10 0.15066 T 0.55 . 11.093800 0.481320 0.0:0.0725:0.0:0.9275 . 366;366 O75445-2;O75445 .;USH2A_HUMAN S 366 ENSP00000305941:N366S;ENSP00000355910:N366S;ENSP00000355909:N366S ENSP00000305941:N366S N - 2 0 USH2A 214565316 2.220000e-01 0.236520 4.000000e-02 0.184470 8.770000e-01 0.505400 3.185000 0.509340 0.880000 0.359690 0.528000 0.532280 AAT TCGA-HZ-7925-01A-11D-2154-08 USH2A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128138.1 1 0 1 48 394 0 69 0 0 0 0 69 2 0 0 0 0 0 2 1 1.000000 48 383 0 69 2 0 0 0 0 69 2 -20.000000 1 1 0 0 1 1 2 3 2.262092 1 0.240000 1.910000 0.320701 0.990000 0.760000 1.000000 1.000000 0.956424 0.990000 1 0.880000 1.000000 DISC1 27185 broad.mit.edu 37 1 231830345 231830345 + Missense_Mutation SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr1:231830345G>A ENST00000602281.1 + 2 894 c.841G>A c.(841-843)Gca>Aca p.A281T TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T|DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.A281T|DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T NM_001164542.1|NM_001164544.1 NP_001158014.1|NP_001158016.1 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GGCCCAGGCCGCAAGGAACAG 0.612000 0 SO:0001583 missense ENST00000602281.1 1 1 hg19 CCDS59205.1 . . . . . . . . . . G 0.711000 -0.786971 0.029070 . . ENSG00000162946 ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632 T;T;T;T;T;T;T;T;T 0.14144 3.16;2.53;2.99;2.98;2.79;3.17;2.8;2.8;2.78 4.640000 -6.620000 0.018130 . 9.051770e-01 0.096990 N 7.673120e-01 T 0.02156 0.0067 N 0.01438 -0.865 0.093100 N 1.000000 B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.28880 0.001;0.089;0.089;0.226;0.033;0.041;0.089;0.089;0.033;0.089;0.001;0.093;0.013;0.089;0.015;0.093;0.093;0.015;0.093;0.093;0.001 B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.16722 0.001;0.009;0.013;0.013;0.005;0.016;0.009;0.009;0.005;0.009;0.001;0.008;0.005;0.009;0.005;0.005;0.008;0.005;0.005;0.005;0.003 T 0.34403 -0.9830 10 0.02654 T 1 -0.1398 1.060700 0.016000 0.4317:0.1966:0.1615:0.2103 . 281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281 C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4 .;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;. T 281;281;281;281;281;281;281;281;281;281;281;281;132 ENSP00000403888:A281T;ENSP00000320784:A281T;ENSP00000355596:A281T;ENSP00000443996:A281T;ENSP00000440909:A281T;ENSP00000355593:A281T;ENSP00000440953:A281T;ENSP00000295051:A281T;ENSP00000441193:A281T ENSP00000295051:A281T A + 1 0 DISC1 229896968 0 0.058580 0 0.037020 0 0.004340 -1.175000 0.031020 -1.334000 0.022440 -1.019000 0.024480 GCA TCGA-HZ-7925-01A-11D-2154-08 DISC1-019 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000467451.1 1 0 0 31 344 0 48 0 1.446698e-01 0 8 0 48 2 0 0 0 0 0 2 1 1.000000 31 337 0 48 2 0 0 0 0 48 2 -2.966611 1 1 0 0 1 1 2 3 2.262092 1 0.240000 1.910000 0.320701 0.770000 0.540000 1.000000 1.000000 0.782606 0.770000 0 0.640000 0.920000 NCKAP5 344148 broad.mit.edu 37 2 133542683 133542683 + Silent SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr2:133542683G>A ENST00000409261.1 - 14 2074 c.1701C>T c.(1699-1701)ggC>ggT p.G567G NCKAP5_ENST00000317721.6_Silent_p.G567G|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 118 CATGGCCTTGGCCCTGTGGGC 0.542000 0 SO:0001819 synonymous_variant ENST00000409261.1 1 1 hg19 CCDS46418.1 TCGA-HZ-7925-01A-11D-2154-08 NCKAP5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000331663.1 1 0 1 63 429 0 78 0 0 0 0 78 2 0 0 0 0 0 2 1 1.000000 61 420 0 78 2 0 0 0 0 78 2 -19.999990 1 1 0 0 1 1 2 3 2.035836 0 0.240000 1.910000 0.244533 0.990000 0.840000 1.000000 1.000000 0.981418 0.990000 1 0.950000 1.000000 AQPEP 0 broad.mit.edu 37 5 115327959 115327959 + Silent SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:115327959C>T ENST00000357872.4 + 5 1369 c.1245C>T c.(1243-1245)caC>caT p.H415H AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN TTGTCTCCCACGAGATTGGAC 0.388000 0 SO:0001819 synonymous_variant ENST00000357872.4 1 1 hg19 CCDS4124.1 TCGA-HZ-7925-01A-11D-2154-08 AQPEP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250852.1 1 0 0 63 383 0 76 0 0 0 0 76 2 0 0 0 0 0 2 1 1.000000 62 381 0 76 2 0 0 0 0 76 2 -20.000000 1 1 121404 8 43 1 1 2 3 2.036595 0 0.240000 1.910000 0.244533 0.990000 0.920000 1.000000 1.000000 0.995814 0.990000 1 0.990000 1.000000 PCDHA8 56140 broad.mit.edu 37 5 140222482 140222482 + Missense_Mutation SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:140222482G>A ENST00000531613.1 + 1 1576 c.1576G>A c.(1576-1578)Gag>Aag p.E526K PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018911.2 NP_061734.1 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACCACGAGGAGCTAGA 0.677000 0 SO:0001583 missense ENST00000531613.1 1 1 hg19 CCDS54919.1 . . . . . . . . . . G 21.600000 4.173878 0.784520 . . ENSG00000204962 ENST00000531613;ENST00000378123 T;T 0.72394 -0.65;-0.65 3.720000 3.720000 0.427060 Cadherin (5);Cadherin-like (1); 0 0.370530 U 2.270000e-03 D 0.90614 0.7057 H 0.99169 4.455 0.436220 D 0.996001 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.94761 0.7936 10 0.87932 D 0 . 15.515100 0.758180 0.0:0.0:1.0:0.0 . 526;526 Q9Y5H6;Q9Y5H6-2 PCDA8_HUMAN;. K 526 ENSP00000434655:E526K;ENSP00000367363:E526K ENSP00000367363:E526K E + 1 0 PCDHA8 140202666 1 0.714170 1 0.803570 2.460000e-01 0.257370 9.188000 0.949210 1.790000 0.525030 0.306000 0.203180 GAG TCGA-HZ-7925-01A-11D-2154-08 PCDHA8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372830.2 1 0 1 116 955 0 193 0 0 0 0 193 2 0 0 0 0 0 2 1 1.000000 112 932 0 189 2 0 0 0 0 193 2 -20.000000 1 1 0 0 1 0 1 1 2.018057 0 0.240000 1.910000 0.238172 0.890000 0.740000 1.000000 1.000000 0.899032 0.890000 1 0.810000 0.980000 CPEB4 80315 broad.mit.edu 37 5 173337529 173337529 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr5:173337529C>T ENST00000265085.5 + 2 2583 c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTACAGGATCGCCCCAGGAC 0.368000 0 SO:0001583 missense ENST00000265085.5 1 1 hg19 CCDS4390.1 . . . . . . . . . . C 28.500000 4.923383 0.923190 . . ENSG00000113742 ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835 T;T;T;T 0.61859 0.24;0.09;0.2;0.07 6.070000 6.070000 0.986850 . 0 0.856820 D 0 T 0.76278 0.3965 M 0.65498 2.005 0.807220 D 1.000000 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.71870 0.943;0.975;0.974;0.962 T 0.76217 -0.3040 10 0.87932 D 0 -13.1041 20.659300 0.996260 0.0:1.0:0.0:0.0 . 377;377;377;377 B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0 .;.;.;CPEB4_HUMAN C 377 ENSP00000265085:R377C;ENSP00000429092:R377C;ENSP00000334533:R377C;ENSP00000429048:R377C ENSP00000265085:R377C R + 1 0 CPEB4 173270135 1 0.714170 1 0.803570 9.930000e-01 0.825480 5.832000 0.693370 2.885000 0.990190 0.655000 0.942530 CGC TCGA-HZ-7925-01A-11D-2154-08 CPEB4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252964.2 1 0 1 75 425 0 97 1 9.346005e-01 5 23 0 97 2 0 0 0 0 0 2 1 1.000000 73 414 0 95 2 0 0 0 0 97 2 -20.000000 1 1 0 0 1 0 1 1 2.018057 0 0.240000 1.910000 0.238172 0.990000 0.990000 1.000000 1.000000 0.998992 0.990000 1 0.990000 1.000000 PHACTR1 221692 broad.mit.edu 37 6 13230385 13230385 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr6:13230385C>T ENST00000379350.1 + 9 1480 c.1351C>T c.(1351-1353)Cgg>Tgg p.R451W PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GGATGAGGAGCGGCTGGAGCT 0.587000 0 SO:0001583 missense ENST00000379350.1 0 1 hg19 . . . . . . . . . . C 19.870000 3.906594 0.728680 0.0 1.19E-4 ENSG00000112137 ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702 T;T;T 0.39406 1.08;1.14;1.23 5.470000 -1.600000 0.084260 . 0 0.856820 D 0 T 0.44993 0.1320 L 0.47716 1.5 0.807220 D 1.000000 D;B;D 0.89917 1.0;0.274;1.0 D;B;D 0.83275 0.994;0.053;0.996 T 0.53774 -0.8391 10 0.59425 D 0.04 -14.544 17.679900 0.882400 0.3077:0.6923:0.0:0.0 . 520;451;451 E7ESR5;Q9C0D0;Q9C0D0-2 .;PHAR1_HUMAN;. W 451;451;520;306 ENSP00000368655:R451W;ENSP00000329880:R451W;ENSP00000397669:R306W ENSP00000329880:R451W R + 1 2 PHACTR1 13338364 9.830000e-01 0.350100 8.460000e-01 0.333780 9.870000e-01 0.754690 0.326000 0.196460 -0.430000 0.073180 0.557000 0.710580 CGG TCGA-HZ-7925-01A-11D-2154-08 PHACTR1-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000039876.1 1 0 1 11 78 0 12 0 2.864392e-01 0 8 0 12 2 0 0 0 0 0 2 1 0.998303 10 75 0 11 2 0 0 0 0 12 2 -18.476740 1 1 120940 1 22 1 0 0 0 2.002742 0 0.240000 1.910000 0.230769 0.990000 0.550000 1.000000 1.000000 0.911907 0.990000 1 0.760000 1.000000 TNXB 7148 broad.mit.edu 37 6 32046935 32046935 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr6:32046935C>T ENST00000375244.3 - 11 4451 c.4250G>A c.(4249-4251)cGt>cAt p.R1417H TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA P22105 TENX_HUMAN tenascin XB 8 GCCCCCAACACGCACCGCCCG 0.662000 0 SO:0001583 missense ENST00000375244.3 1 1 hg19 . . . . . . . . . . C 13.460000 2.244413 0.396970 . . ENSG00000168477 ENST00000375244;ENST00000375247 T;T 0.57752 0.38;0.38 5.520000 4.640000 0.579460 . 0 0.413960 D 8.890000e-04 T 0.34978 0.0916 M 0.67397 2.05 0.297400 N 0.837148 P 0.50617 0.937 P 0.47645 0.553 T 0.22382 -1.0218 10 0.13108 T 0.6 . 9.608800 0.396500 0.1602:0.6853:0.1545:0.0 . 1417 P22105-3 . H 1417 ENSP00000364393:R1417H;ENSP00000364396:R1417H ENSP00000364393:R1417H R - 2 0 TNXB 32154913 4.590000e-01 0.257680 9.720000e-01 0.419010 4.800000e-02 0.145420 0.667000 0.251120 1.459000 0.478920 0.591000 0.815410 CGT TCGA-HZ-7925-01A-11D-2154-08 TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000268927.2 1 0 1 81 736 0 128 0 1.877959e-01 0 8 0 128 2 0 0 0 0 0 2 1 1.000000 77 716 0 128 2 0 0 0 0 128 2 -19.999540 1 1 120852 1 31 1 0 0 0 2.000270 0 0.240000 1.910000 0.228896 0.810000 0.650000 0.980000 0.810000 0.818148 0.810000 0 0.720000 0.900000 HOXA3 3200 broad.mit.edu 37 7 27148069 27148069 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr7:27148069C>T ENST00000396352.4 - 3 996 c.797G>A c.(796-798)cGc>cAc p.R266H HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 29 CACGGGGCTGCGACTTGGAGA 0.602000 Esophageal Squamous(136;1368 1743 5685 7935 50360) 0 SO:0001583 missense ENST00000396352.4 1 1 hg19 CCDS5404.1 . . . . . . . . . . C 15.880000 2.964113 0.535070 . . ENSG00000105997 ENST00000396352;ENST00000317201;ENST00000396350 D;D 0.87256 -2.23;-2.23 5.560000 5.560000 0.838230 . 5.316400e-02 0.644020 D 1.000000e-06 D 0.84097 0.5397 L 0.52206 1.635 0.536880 D 0.999979 P 0.38300 0.626 B 0.32022 0.139 D 0.84641 0.0695 10 0.49607 T 0.09 . 19.537600 0.952600 0.0:1.0:0.0:0.0 . 266 O43365 HXA3_HUMAN H 266;266;108 ENSP00000379640:R266H;ENSP00000324884:R266H ENSP00000324884:R266H R - 2 0 HOXA3 27114594 1 0.714170 1 0.803570 9.620000e-01 0.633680 3.592000 0.539930 2.620000 0.887290 0.655000 0.942530 CGC TCGA-HZ-7925-01A-11D-2154-08 HOXA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358708.2 1 0 0 81 650 0 125 1 9.755422e-01 9 40 0 125 2 0 0 0 0 0 2 1 1.000000 81 623 0 121 2 0 0 0 0 125 2 -20.000000 1 1 0 0 1 1 2 3 2.071254 0 0.240000 1.910000 0.250789 0.940000 0.750000 1.000000 1.000000 0.931777 0.940000 1 0.840000 1.000000 TRPM6 140803 broad.mit.edu 37 9 77423011 77423011 + Missense_Mutation SNP C C T TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chr9:77423011C>T ENST00000360774.1 - 14 1814 c.1577G>A c.(1576-1578)cGc>cAc p.R526H TRPM6_ENST00000451710.3_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H NM_017662.4 NP_060132.3 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 126 GTAGTTGCTGCGATATGCTCT 0.388000 0 SO:0001583 missense ENST00000360774.1 1 1 hg19 CCDS6647.1 . . . . . . . . . . C 28.500000 4.924348 0.923190 . . ENSG00000119121 ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641 T;T;T;T;T;T 0.75704 -0.96;-0.96;0.42;-0.96;-0.96;-0.96 5.740000 5.740000 0.901520 . 1.552790e-01 0.644020 D 1.200000e-05 D 0.84365 0.5456 M 0.73372 2.23 0.584320 D 0.999992 D;D;D 0.89917 0.999;1.0;0.993 D;D;P 0.68765 0.917;0.96;0.805 D 0.85613 0.1259 10 0.87932 D 0 . 14.126300 0.652220 0.0:0.9285:0.0:0.0715 . 526;526;521 Q9BX84-5;Q9BX84;Q9BX84-3 .;TRPM6_HUMAN;. H 526;526;526;521;521;526;189;189 ENSP00000354006:R526H;ENSP00000407341:R526H;ENSP00000366068:R526H;ENSP00000396672:R521H;ENSP00000354962:R521H;ENSP00000366060:R526H ENSP00000309693:R189H R - 2 0 TRPM6 76612831 9.990000e-01 0.422020 9.950000e-01 0.509660 9.880000e-01 0.763860 4.079000 0.576130 2.715000 0.928440 0.655000 0.942530 CGC TCGA-HZ-7925-01A-11D-2154-08 TRPM6-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000052693.1 1 0 1 53 396 0 81 0 0 0 0 81 2 0 0 0 0 0 2 1 1.000000 53 391 0 80 2 0 0 0 0 81 2 -19.344830 1 1 0 0 1 1 2 3 2.022439 0 0.240000 1.910000 0.241820 0.980000 0.750000 1.000000 1.000000 0.946434 0.980000 1 0.860000 1.000000 L1CAM 3897 broad.mit.edu 37 X 153135631 153135631 + Nonsense_Mutation SNP G G A TCGA-HZ-7925-01A-11D-2154-08 TCGA-HZ-7925-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 923b6998-e4e5-4912-9081-b7bc081918e6 2c4fb285-71ad-4896-807b-6303c36b37fd g.chrX:153135631G>A ENST00000370060.1 - 9 1060 c.871C>T c.(871-873)Cag>Tag p.Q291* L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293* NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGTGGTTCTGGTAGGTGACA 0.642000 0 SO:0001587 stop_gained ENST00000370060.1 0 1 hg19 CCDS14733.1 . . . . . . . . . . G 37.000000 6.085530 0.972710 . . ENSG00000198910 ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699 . . . 5.150000 4.220000 0.498570 . 2.222930e-01 0.312100 N 8.045000e-03 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.19147 T 0.46 . 12.262300 0.546580 0.0:0.2934:0.7066:0.0 . . . . X 291;293;291;293;286;286;291 . ENSP00000355380:Q291X Q - 1 0 L1CAM 152788825 8.380000e-01 0.294610 1 0.803570 9.080000e-01 0.536900 0.530000 0.230360 2.283000 0.765280 0.529000 0.557590 CAG TCGA-HZ-7925-01A-11D-2154-08 L1CAM-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000061094.2 1 0 1 200 604 0 132 0 3.658816e-01 0 5 0 132 2 1 1 211 644 0 520 2 1 1.000000 194 593 0 131 2 0 0 0 0 132 2 -6.683376 1 1 0 0 1 0 1 1 0.240000 1.910000 0.240000 0.960000 0.880000 1.000000 0.990000 0.964417 0.960000 1 0.920000 1.000000