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 NRAP 4892 broad.mit.edu 37 10 115374632 115374632 + Missense_Mutation SNP T T A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:115374632T>A ENST00000359988.3 - 28 3396 c.3152A>T c.(3151-3153)cAa>cTa p.Q1051L NRAP_ENST00000369360.3_Missense_Mutation_p.Q1024L|NRAP_ENST00000369358.4_Missense_Mutation_p.Q1059L|NRAP_ENST00000360478.3_Missense_Mutation_p.Q1016L NM_001261463.1|NM_198060.3 NP_001248392.1|NP_932326.2 nebulin-related anchoring protein 95 Colorectal(252;0.0233)|Breast(234;0.188) CTTTGCTGCTTGGAATGGAAG 0.468000 0 SO:0001583 missense ENST00000359988.3 0 1 hg19 CCDS7579.1 . . . . . . . . . . T 18.25 3.582432 0.65992 . . ENSG00000197893 ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478 T;T;T;T 0.42513 0.97;0.97;0.97;0.97 5.66 4.52 0.55395 . 0.000000 0.85682 D 0.000000 T 0.57021 0.2025 L 0.53249 1.67 0.42674 D 0.993527 D;D;P 0.89917 1.0;1.0;0.743 D;D;P 0.91635 0.999;0.999;0.798 T 0.54984 -0.8211 10 0.40728 T 0.16 . 11.6035 0.51017 0.0:0.0697:0.0:0.9303 . 1051;1016;1051 A0AVL2;Q86VF7-4;Q86VF7 .;.;NRAP_HUMAN L 1059;1024;1051;1016 ENSP00000358365:Q1059L;ENSP00000358367:Q1024L;ENSP00000353078:Q1051L;ENSP00000353666:Q1016L ENSP00000353078:Q1051L Q - 2 0 NRAP 115364622 1.000000 0.71417 1.000000 0.80357 0.971000 0.66376 4.562000 0.60816 0.972000 0.38314 0.533000 0.62120 CAA TCGA-US-A774-01A-21D-A32N-08 NRAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050425.2 0 0 0 8 279 0 44 0 0 0 0 44 2 0 0 0 0 0 2 1 0.989183 8 276 0 44 2 0 0 0 0 44 2 -8.941687 1 1 0 0 1 0 0 0 1.941532 0 0.100000 2 0.067358 0.540000 0.260000 0.950000 0.510000 0.569605 0.540000 0 3.800000e-01 7.500000e-01 DHX32 55760 broad.mit.edu 37 10 127540897 127540897 + Missense_Mutation SNP G G A rs143704757 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:127540897G>A ENST00000284690.3 - 6 1806 c.1316C>T c.(1315-1317)gCg>gTg p.A439V DHX32_ENST00000368721.1_Missense_Mutation_p.A63V|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.A358V NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GCCTAGGCCCGCAATGTCTAT 0.498000 0 SO:0001583 missense ENST00000284690.3 0 1 hg19 CCDS7652.1 . . . . . . . . . . G 31 5.067881 0.93950 0.0 4.65E-4 ENSG00000089876 ENST00000368721;ENST00000284690;ENST00000284688 T;T;T 0.18016 2.24;3.99;3.72 5.72 5.72 0.89469 . 0.056069 0.64402 D 0.000001 T 0.39517 0.1081 L 0.52364 1.645 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.83275 0.939;0.996 T 0.06162 -1.0842 10 0.87932 D 0 -28.254 18.885 0.92372 0.0:0.0:1.0:0.0 . 358;439 Q7L7V1-2;Q7L7V1 .;DHX32_HUMAN V 63;439;358 ENSP00000357710:A63V;ENSP00000284690:A439V;ENSP00000284688:A358V ENSP00000284688:A358V A - 2 0 DHX32 127530887 1.000000 0.71417 0.978000 0.43139 0.977000 0.68977 7.429000 0.80309 2.691000 0.91804 0.655000 0.94253 GCG TCGA-US-A774-01A-21D-A32N-08 DHX32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050945.2 0 0 0 5 228 0 49 0 4.789757e-01 0 66 0 49 2 0 0 0 0 0 2 1 0.936793 5 226 0 47 2 0 0 0 0 49 2 -2.966195 1 1 121410 55 48 1 0 0 0 1.941532 0 0.100000 2 0.067358 0.430000 0.160000 0.840000 0.390000 0.462546 0.430000 0 2.700000e-01 6.400000e-01 DCLRE1C 64421 broad.mit.edu 37 10 14976718 14976718 + Missense_Mutation SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:14976718T>C ENST00000378278.2 - 7 558 c.521A>G c.(520-522)tAc>tGc p.Y174C DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y59C Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 17 TGGAATTTGGTAAAATCTTGG 0.398000 Non-homologous end-joining 0 SO:0001583 missense ENST00000378278.2 1 1 hg19 CCDS31149.1 . . . . . . . . . . T 17.20 3.328605 0.60743 . . ENSG00000152457 ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843;ENST00000378241 T;T;T;T;T;T;T;T;T;T;T;T 0.80393 -1.23;-0.76;-0.77;-0.77;-0.77;-0.76;-0.76;-0.76;-1.34;-0.76;-1.37;-0.76 4.85 3.7 0.42460 Beta-lactamase-like (1); 0.055752 0.85682 D 0.000000 D 0.85600 0.5734 M 0.64997 1.995 0.48830 D 0.999716 P;D;P 0.69078 0.893;0.997;0.937 P;D;P 0.63033 0.753;0.91;0.762 D 0.85634 0.1272 10 0.72032 D 0.01 . 11.1815 0.48631 0.1379:0.0:0.0:0.8621 . 174;59;174 Q96SD1-4;Q96SD1-3;Q96SD1 .;.;DCR1C_HUMAN C 174;54;59;59;59;54;54;54;174;54;28;54 ENSP00000367538:Y174C;ENSP00000400529:Y54C;ENSP00000367492:Y59C;ENSP00000350349:Y59C;ENSP00000367496:Y59C;ENSP00000380030:Y54C;ENSP00000367503:Y54C;ENSP00000367502:Y54C;ENSP00000367527:Y174C;ENSP00000367506:Y54C;ENSP00000391428:Y28C;ENSP00000367487:Y54C ENSP00000350349:Y59C Y - 2 0 DCLRE1C 15016724 1.000000 0.71417 0.989000 0.46669 0.750000 0.42670 4.892000 0.63193 0.785000 0.33685 -0.309000 0.09137 TAC TCGA-US-A774-01A-21D-A32N-08 DCLRE1C-009 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046934.1 1 0 0 40 675 0 121 1 1.687906e-01 4 9 0 121 2 0 0 0 0 0 2 1 1.000000 40 663 0 117 2 0 0 0 0 121 2 -20.000000 1 1 0 0 1 0 0 0 1.941532 0 0.100000 2 0.067358 0.990000 0.770000 1.000000 1.000000 0.966302 0.990000 1 9.000000e-01 1 GPR158 57512 broad.mit.edu 37 10 25510077 25510077 + Missense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:25510077C>A ENST00000376351.3 + 2 1358 c.999C>A c.(997-999)aaC>aaA p.N333K NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 119 GCCACCTCAACAATTCAGAGG 0.363000 0 SO:0001583 missense ENST00000376351.3 1 1 hg19 CCDS31166.1 . . . . . . . . . . C 15.47 2.842654 0.51057 . . ENSG00000151025 ENST00000376351 T 0.59906 0.23 5.37 3.51 0.40186 . 0.157867 0.42053 D 0.000778 T 0.66877 0.2834 L 0.49640 1.575 0.39032 D 0.959954 D 0.67145 0.996 D 0.65684 0.937 T 0.65845 -0.6069 10 0.46703 T 0.11 . 11.8361 0.52325 0.0:0.7809:0.0:0.2191 . 333 Q5T848 GP158_HUMAN K 333 ENSP00000365529:N333K ENSP00000365529:N333K N + 3 2 GPR158 25550083 1.000000 0.71417 1.000000 0.80357 0.889000 0.51656 1.005000 0.29834 0.266000 0.21894 -1.119000 0.02030 AAC TCGA-US-A774-01A-21D-A32N-08 GPR158-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047248.2 1 0 0 13 220 0 38 0 0 0 0 38 2 0 0 0 0 0 2 1 0.999498 13 214 0 38 2 0 0 0 0 38 2 -16.020890 1 1 0 0 1 0 0 0 1.941532 0 0.100000 2 0.067358 0.980000 0.580000 1.000000 1.000000 0.911967 0.980000 1 7.700000e-01 1 RBP3 5949 broad.mit.edu 37 10 48387849 48387849 + Missense_Mutation SNP C C T rs149031179 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:48387849C>T ENST00000224600.4 - 1 3142 c.3029G>A c.(3028-3030)cGc>cAc p.R1010H AL731561.2_ENST00000581861.1_RNA NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial p.R1010H(1) 59 Vitamin A(DB00162) TCCAGGAATGCGGTCCTTGGC 0.597000 1 Substitution - Missense(1) SO:0001583 missense ENST00000224600.4 0 1 hg19 CCDS7218.1 . . . . . . . . . . C 12.15 1.850487 0.32699 . . ENSG00000107618 ENST00000224600 T 0.64260 -0.09 5.28 3.4 0.38934 . 0.253639 0.45867 N 0.000323 T 0.55909 0.1950 L 0.59436 1.845 0.29650 N 0.844067 B 0.13145 0.007 B 0.08055 0.003 T 0.53753 -0.8394 10 0.42905 T 0.14 -8.7331 10.976 0.47467 0.0:0.8467:0.0:0.1533 . 1010 P10745 RET3_HUMAN H 1010 ENSP00000224600:R1010H ENSP00000224600:R1010H R - 2 0 RBP3 48007855 0.997000 0.39634 0.992000 0.48379 0.990000 0.78478 0.507000 0.22675 0.593000 0.29745 0.655000 0.94253 CGC TCGA-US-A774-01A-21D-A32N-08 RBP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047888.1 0 0 0 6 663 0 102 0 0 0 0 102 2 0 0 0 0 0 2 1 0.963421 6 654 0 102 2 0 0 0 0 102 2 -1.834889 0 1 121412 2 39 1 0 0 0 1.941532 0 0.100000 2 0.067358 0.180000 0.070000 0.350000 0.170000 0.197180 0.180000 0 1.100000e-01 2.700000e-01 TTC17 55761 broad.mit.edu 37 11 43429013 43429013 + Silent SNP A A T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:43429013A>T ENST00000039989.4 + 15 1964 c.1950A>T c.(1948-1950)ccA>ccT p.P650P TTC17_ENST00000299240.6_Silent_p.P650P|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 53 ATTTAGCTCCACTTCAATACC 0.438000 0 SO:0001819 synonymous_variant ENST00000039989.4 1 1 hg19 CCDS31466.1 TCGA-US-A774-01A-21D-A32N-08 TTC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389577.2 1 0 1 15 227 0 32 1 9.281515e-01 12 59 0 32 2 0 0 0 0 0 2 1 0.999867 15 223 0 32 2 0 0 0 0 32 2 -18.576330 1 1 0 0 1 1 2 3 2.025367 0 0.100000 2 0.111111 0.990000 0.760000 1.000000 1.000000 0.980553 0.990000 1 9.900000e-01 1 OR5D14 219436 broad.mit.edu 37 11 55563840 55563840 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:55563840G>A ENST00000335605.1 + 1 809 c.809G>A c.(808-810)cGg>cAg p.R270Q NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 48 all_epithelial(135;0.196) AAAAACTCTCGGCAAACAGTC 0.478000 0 SO:0001583 missense ENST00000335605.1 0 1 hg19 CCDS31508.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 g 6.790 0.514742 0.12944 . . ENSG00000186113 ENST00000335605 T 0.00107 8.72 5.08 -1.69 0.08186 GPCR, rhodopsin-like superfamily (1); 0.373489 0.18403 N 0.142284 T 0.00073 0.0002 N 0.04063 -0.285 0.09310 N 1 B 0.06786 0.001 B 0.08055 0.003 T 0.25847 -1.0120 10 0.59425 D 0.04 -0.0228 5.3998 0.16288 0.3914:0.0:0.4431:0.1655 . 270 Q8NGL3 OR5DE_HUMAN Q 270 ENSP00000334456:R270Q ENSP00000334456:R270Q R + 2 0 OR5D14 55320416 0.000000 0.05858 0.000000 0.03702 0.593000 0.36681 -2.267000 0.01170 -0.577000 0.05967 -0.829000 0.03081 CGG TCGA-US-A774-01A-21D-A32N-08 OR5D14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391513.1 0 0 0 4 266 0 45 0 0 0 0 45 2 0 0 0 0 0 2 1 0.885731 4 261 0 45 2 0 0 0 0 45 2 -2.917380 1 1 121404 2 44 1 1 2 3 2.025367 0 0.100000 2 0.111111 0.370000 0.110000 1.000000 0.290000 0.475706 0.370000 0 2.100000e-01 1 DRAP1 10589 broad.mit.edu 37 11 65687891 65687891 + Missense_Mutation SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:65687891A>G ENST00000312515.2 + 4 532 c.287A>G c.(286-288)gAc>gGc p.D96G C11orf68_ENST00000530188.1_5'Flank|DRAP1_ENST00000376991.2_Missense_Mutation_p.D96G|C11orf68_ENST00000438576.2_5'Flank|DRAP1_ENST00000532933.1_Missense_Mutation_p.D76G|C11orf68_ENST00000449692.3_5'Flank|DRAP1_ENST00000527119.1_Missense_Mutation_p.D52G NM_006442.3 NP_006433.2 Q14919 NC2A_HUMAN DR1-associated protein 1 (negative cofactor 2 alpha) 5 ATGCAGGGGGACGGGGAAGAC 0.637000 0 SO:0001583 missense ENST00000312515.2 0 1 hg19 CCDS8123.1 . . . . . . . . . . A 15.43 2.831383 0.50845 . . ENSG00000175550 ENST00000312515;ENST00000525501;ENST00000376991;ENST00000527119;ENST00000532933 . . . 4.33 4.33 0.51752 Histone-fold (1); 0.062082 0.64402 D 0.000008 T 0.48786 0.1519 L 0.48642 1.525 0.58432 D 0.999999 B 0.34015 0.435 B 0.32393 0.145 T 0.51332 -0.8719 9 0.44086 T 0.13 -6.8611 11.7748 0.51979 1.0:0.0:0.0:0.0 . 96 Q14919 NC2A_HUMAN G 96;57;96;52;76 . ENSP00000307850:D96G D + 2 0 DRAP1 65444467 1.000000 0.71417 0.926000 0.36857 0.587000 0.36485 8.228000 0.89789 1.744000 0.51775 0.533000 0.62120 GAC TCGA-US-A774-01A-21D-A32N-08 DRAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391197.2 0 0 0 6 683 0 131 0 9.116880e-01 1 494 0 131 2 0 0 0 0 0 2 1 0.962619 6 668 0 128 2 0 0 0 0 131 2 -2.433144 0 1 0 0 1 1 2 3 2.021243 0 0.100000 2 0.110232 0.200000 0.070000 1.000000 0.180000 0.337206 0.200000 0 1.300000e-01 1 RBMXL2 27288 broad.mit.edu 37 11 7111053 7111053 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:7111053G>A ENST00000306904.5 + 1 889 c.702G>A c.(700-702)tcG>tcA p.S234S NM_014469.4 NP_055284.3 O75526 RMXL2_HUMAN RNA binding motif protein, X-linked-like 2 15 TTGCCCCCTCGCCCGGAGAGT 0.687000 0 SO:0001819 synonymous_variant ENST00000306904.5 0 1 hg19 CCDS7777.1 TCGA-US-A774-01A-21D-A32N-08 RBMXL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384552.1 0 0 0 12 164 0 25 0 0 1 0 0 25 2 0 0 0 0 0 2 1 0.999134 11 162 0 25 2 0 0 0 0 25 2 -16.904900 1 1 0 0 1 1 2 3 2.025367 0 0.100000 2 0.111111 0.990000 0.780000 1.000000 1.000000 0.985356 0.990000 1 9.900000e-01 1 PANX1 24145 broad.mit.edu 37 11 93913034 93913034 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:93913034G>A ENST00000227638.3 + 4 1197 c.812G>A c.(811-813)gGc>gAc p.G271D PANX1_ENST00000436171.2_Missense_Mutation_p.G271D NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Probenecid(DB01032) ATTGCCGTGGGCATCTTCCAG 0.502000 0 SO:0001583 missense ENST00000227638.3 0 1 hg19 CCDS8296.1 . . . . . . . . . . G 21.1 4.102161 0.76983 . . ENSG00000110218 ENST00000227638;ENST00000436171 T;T 0.19669 2.13;2.13 5.95 5.95 0.96441 . 0.000000 0.85682 D 0.000000 T 0.52273 0.1724 M 0.82056 2.57 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 T 0.49341 -0.8950 10 0.52906 T 0.07 -36.6712 19.9882 0.97356 0.0:0.0:1.0:0.0 . 271;271 Q96RD7;Q96RD7-2 PANX1_HUMAN;. D 271 ENSP00000227638:G271D;ENSP00000411461:G271D ENSP00000227638:G271D G + 2 0 PANX1 93552682 1.000000 0.71417 0.906000 0.35671 0.256000 0.26092 7.453000 0.80700 2.824000 0.97209 0.655000 0.94253 GGC TCGA-US-A774-01A-21D-A32N-08 PANX1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396121.1 0 0 0 6 779 0 142 0 1.605851e-01 0 79 0 142 2 0 0 0 0 0 2 1 0.963198 6 766 0 142 2 0 0 0 0 142 2 -2.209557 0 1 0 0 1 1 2 3 2.021243 0 0.100000 2 0.110232 0.180000 0.060000 1.000000 0.160000 0.316886 0.180000 0 1.100000e-01 1 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 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-US-A774-01A-21D-A32N-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 0 0 0 5 96 0 15 1 5.997426e-01 6 31 0 15 2 1 9.979955e-01 17 255 0 322 2 1 0.937533 5 95 0 15 2 1 1 322 7702 0 15 2 -4.379355 1 1 121404 2 44 1 1 2 3 2.068484 0 0.100000 2 0.120664 0.990000 0.440000 1.000000 1.000000 0.911241 0.990000 1 7.400000e-01 1 DNM1L 10059 broad.mit.edu 37 12 32884346 32884346 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:32884346G>A ENST00000549701.1 + 11 1331 c.1257G>A c.(1255-1257)cgG>cgA p.R419R DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000381000.4_Silent_p.R432R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000452533.2_Silent_p.R419R O00429 DNM1L_HUMAN dynamin 1-like 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGTGAAGCGGCAAATCAAAC 0.418000 0 SO:0001819 synonymous_variant ENST00000549701.1 0 1 hg19 CCDS8729.1 TCGA-US-A774-01A-21D-A32N-08 DNM1L-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000404124.1 0 0 0 5 473 0 68 0 1.605074e-01 0 55 0 68 2 0 0 0 0 0 2 1 0.935037 5 465 0 68 2 0 0 0 0 68 2 -2.038814 0 1 121412 1 32 1 0 1 1 1.952839 0 0.100000 2 0.071207 0.210000 0.080000 0.430000 0.200000 0.235653 0.210000 0 1.300000e-01 3.200000e-01 DDX23 9416 broad.mit.edu 37 12 49224974 49224974 + Missense_Mutation SNP G G C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:49224974G>C ENST00000308025.3 - 16 2269 c.2190C>G c.(2188-2190)atC>atG p.I730M NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 36 ACACATCTTGGATGTCAATAC 0.468000 0 SO:0001583 missense ENST00000308025.3 0 1 hg19 CCDS8770.1 . . . . . . . . . . G 17.77 3.471899 0.63737 . . ENSG00000174243 ENST00000308025 T 0.78816 -1.21 5.75 0.262 0.15597 Helicase, C-terminal (3); 0.000000 0.85682 D 0.000000 D 0.87803 0.6269 M 0.90595 3.13 0.58432 D 0.999998 D 0.89917 1.0 D 0.87578 0.998 D 0.87059 0.2152 10 0.87932 D 0 -13.0005 10.1741 0.42929 0.4713:0.0:0.5287:0.0 . 730 Q9BUQ8 DDX23_HUMAN M 730 ENSP00000310723:I730M ENSP00000310723:I730M I - 3 3 DDX23 47511241 1.000000 0.71417 0.999000 0.59377 0.989000 0.77384 1.010000 0.29898 0.103000 0.17682 0.655000 0.94253 ATC TCGA-US-A774-01A-21D-A32N-08 DDX23-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408897.2 0 0 0 6 747 1 144 0 1.097687e-02 1 80 1 144 4 0 0 0 0 0 2 0 0.009904 6 738 1 141 18 0 0 0 1 144 2 -2.632509 1 1 0 0 1 0 1 1 1.952839 0 0.100000 2 0.071207 0.160000 0.060000 0.310000 0.150000 0.176572 0.160000 0 1.000000e-01 2.400000e-01 ARF3 377 broad.mit.edu 37 12 49334797 49334797 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:49334797C>T ENST00000256682.4 - 2 416 c.82G>A c.(82-84)Gca>Aca p.A28T AC073610.5_ENST00000537495.1_5'Flank|ARF3_ENST00000541959.1_Missense_Mutation_p.A28T|ARF3_ENST00000541967.1_5'Flank|ARF3_ENST00000447318.2_Missense_Mutation_p.A28T|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.A28T NM_001659.2 NP_001650.1 P61204 ARF3_HUMAN ADP-ribosylation factor 3 4 GTCTTTCCTGCGGCATCCAGG 0.527000 Pancreas(189;1862 2134 4419 30933 49364) 0 SO:0001583 missense ENST00000256682.4 0 1 hg19 CCDS8774.1 . . . . . . . . . . C 24.8 4.567213 0.86439 . . ENSG00000134287 ENST00000398092;ENST00000256682;ENST00000447318;ENST00000541959;ENST00000541236;ENST00000539611;ENST00000545855 T;T;D;T;T;T;T 0.84070 -0.77;-0.77;-1.8;-0.77;-0.77;-0.77;-0.77 4.96 4.96 0.65561 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.94437 0.8210 H 0.97291 3.975 0.80722 D 1 D;D 0.89917 0.996;1.0 P;D 0.75484 0.888;0.986 D 0.96383 0.9283 10 0.87932 D 0 . 17.3435 0.87304 0.0:1.0:0.0:0.0 . 28;28 B7ZB63;P61204 .;ARF3_HUMAN T 28 ENSP00000438507:A28T;ENSP00000256682:A28T;ENSP00000395370:A28T;ENSP00000438510:A28T;ENSP00000438063:A28T;ENSP00000437374:A28T;ENSP00000446353:A28T ENSP00000256682:A28T A - 1 0 ARF3 47621064 1.000000 0.71417 0.993000 0.49108 0.976000 0.68499 6.049000 0.71053 2.476000 0.83614 0.561000 0.74099 GCA TCGA-US-A774-01A-21D-A32N-08 ARF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000258242.2 0 0 0 8 833 1 139 0 1.362271e-02 1 334 1 139 10 0 0 0 0 0 2 0 0.014683 10 813 1 138 20 0 0 0 1 139 2 -1.929469 0 1 0 0 1 0 1 1 1.952839 0 0.100000 2 0.071207 0.190000 0.080000 0.340000 0.180000 0.203698 0.190000 0 1.300000e-01 2.700000e-01 TRHDE 29953 broad.mit.edu 37 12 72667194 72667194 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:72667194G>A ENST00000261180.4 + 1 732 c.636G>A c.(634-636)ccG>ccA p.P212P TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 79 TCCTCTACCCGCAAACCCAGG 0.567000 0 SO:0001819 synonymous_variant ENST00000261180.4 0 1 hg19 CCDS9004.1 TCGA-US-A774-01A-21D-A32N-08 TRHDE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405380.1 0 0 0 6 460 1 87 0 3.636207e-03 0 6 1 87 2 0 0 0 0 0 2 0 0.009493 6 454 1 87 18 0 0 0 1 87 2 -2.489759 0 1 0 0 1 0 1 1 1.952839 0 0.100000 2 0.071207 0.260000 0.100000 0.500000 0.250000 0.281776 0.260000 0 1.700000e-01 3.800000e-01 TNFRSF19 55504 broad.mit.edu 37 13 24242948 24242948 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr13:24242948C>T ENST00000382258.4 + 9 1161 c.957C>T c.(955-957)aaC>aaT p.N319N TNFRSF19_ENST00000403372.2_Silent_p.N187N|TNFRSF19_ENST00000248484.4_Silent_p.N319N|TNFRSF19_ENST00000382263.3_Silent_p.N319N NM_018647.3 NP_061117.2 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) GTGGTGACAACATCTCTTTTT 0.478000 0 SO:0001819 synonymous_variant ENST00000382258.4 1 1 hg19 CCDS9302.1 TCGA-US-A774-01A-21D-A32N-08 TNFRSF19-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000044156.2 1 0 0 33 617 0 115 0 3.932415e-01 0 26 0 115 2 0 0 0 0 0 2 1 1.000000 33 609 0 115 2 0 0 0 0 115 2 -6.023837 1 1 0 0 1 1 2 3 2.023831 0 0.100000 2 0.110672 0.990000 0.730000 1.000000 1.000000 0.959416 0.990000 1 8.800000e-01 1 KCNH5 27133 broad.mit.edu 37 14 63511901 63511901 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:63511901G>A ENST00000322893.7 - 1 272 c.4C>T c.(4-6)Ccg>Tcg p.P2S KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 99 TTGCCCCCCGGCATCCTGGGT 0.602000 0 SO:0001583 missense ENST00000322893.7 0 1 hg19 CCDS9756.1 . . . . . . . . . . G 19.01 3.743568 0.69418 . . ENSG00000140015 ENST00000322893;ENST00000420622 D;D 0.98876 -5.2;-5.06 5.23 5.23 0.72850 . 0.052087 0.85682 D 0.000000 D 0.98248 0.9420 M 0.72118 2.19 0.80722 D 1 P;P 0.37548 0.538;0.599 P;B 0.44359 0.447;0.103 D 0.99806 1.1038 10 0.87932 D 0 . 16.6453 0.85175 0.0:0.0:1.0:0.0 . 2;2 Q8NCM2-2;Q8NCM2 .;KCNH5_HUMAN S 2 ENSP00000321427:P2S;ENSP00000395439:P2S ENSP00000321427:P2S P - 1 0 KCNH5 62581654 1.000000 0.71417 1.000000 0.80357 0.926000 0.56050 8.118000 0.89577 2.611000 0.88343 0.563000 0.77884 CCG TCGA-US-A774-01A-21D-A32N-08 KCNH5-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411747.1 0 0 0 5 263 0 54 0 0 0 0 54 2 0 0 0 0 0 2 1 0.935626 6 258 0 53 2 0 0 0 0 54 2 -4.052912 1 1 0 0 1 1 2 3 2.020912 0 0.100000 2 0.110232 0.450000 0.160000 1.000000 0.360000 0.530844 0.450000 0 2.700000e-01 1 ZP2 7783 broad.mit.edu 37 16 21209136 21209136 + Missense_Mutation SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:21209136G>T ENST00000574002.1 - 19 2528 c.2046C>A c.(2044-2046)agC>agA p.S682R AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.S673R|ZP2_ENST00000219593.4_Missense_Mutation_p.S682R Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 41 TCTCCCCACTGCTCCCACTTG 0.468000 0 SO:0001583 missense ENST00000574002.1 1 1 hg19 CCDS10596.1 . . . . . . . . . . G 9.670 1.146585 0.21288 . . ENSG00000103310 ENST00000219593 T 0.76060 -0.99 4.26 -5.44 0.02624 . 17.585600 0.00496 N 0.000144 T 0.50888 0.1642 N 0.08118 0 0.09310 N 1 B;B 0.29432 0.244;0.148 B;B 0.26969 0.075;0.035 T 0.42716 -0.9435 10 0.30854 T 0.27 25.2756 6.89 0.24224 0.7005:0.0:0.1658:0.1337 . 673;682 Q4VAP1;Q05996 .;ZP2_HUMAN R 682 ENSP00000219593:S682R ENSP00000219593:S682R S - 3 2 ZP2 21116637 0.000000 0.05858 0.000000 0.03702 0.039000 0.13416 -0.272000 0.08560 -1.035000 0.03291 0.563000 0.77884 AGC TCGA-US-A774-01A-21D-A32N-08 ZP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000207365.2 1 0 0 35 565 0 100 0 0 0 0 100 2 0 0 0 0 0 2 1 1.000000 35 548 0 97 2 0 0 0 0 100 2 -6.583259 1 1 0 0 1 1 2 3 2.028586 0 0.100000 2 0.111988 0.990000 0.850000 1.000000 1.000000 0.989387 0.990000 1 9.900000e-01 1 PRKCB 5579 broad.mit.edu 37 16 24104167 24104167 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:24104167C>T ENST00000321728.7 + 6 760 c.585C>T c.(583-585)taC>taT p.Y195Y PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Silent_p.Y195Y NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 9 Tamoxifen(DB00675)|Vitamin E(DB00163) CAGATCCCTACGTAAAACTGA 0.408000 0 SO:0001819 synonymous_variant ENST00000321728.7 1 1 hg19 CCDS10618.1 TCGA-US-A774-01A-21D-A32N-08 PRKCB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254504.2 1 0 0 33 485 0 93 0 4.000390e-01 0 21 0 93 2 0 0 0 0 0 2 1 1.000000 33 481 0 92 2 0 0 0 0 93 2 -7.910216 1 1 121412 3 38 1 1 2 3 2.028586 0 0.100000 2 0.111988 0.990000 0.920000 1.000000 1.000000 0.995662 0.990000 1 9.900000e-01 1 CAPNS2 84290 broad.mit.edu 37 16 55601209 55601209 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:55601209G>A ENST00000457326.2 + 1 626 c.541G>A c.(541-543)Gca>Aca p.A181T LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 7 TCTGCAGGCCGCAGGCTTCCA 0.463000 0 SO:0001583 missense ENST00000457326.2 0 1 hg19 CCDS54010.1 . . . . . . . . . . G 35 5.472549 0.96274 . . ENSG00000256812 ENST00000457326 T 0.47869 0.83 5.98 5.98 0.97165 EF-hand-like domain (1); . . . . T 0.77103 0.4081 M 0.91038 3.17 0.58432 D 0.999999 D 0.89917 1.0 D 0.74023 0.982 T 0.80799 -0.1221 9 0.72032 D 0.01 . 20.4581 0.99154 0.0:0.0:1.0:0.0 . 181 Q96L46 CPNS2_HUMAN T 181 ENSP00000400882:A181T ENSP00000400882:A181T A + 1 0 CAPNS2 54158710 1.000000 0.71417 0.986000 0.45419 0.931000 0.56810 8.752000 0.91632 2.835000 0.97688 0.650000 0.86243 GCA TCGA-US-A774-01A-21D-A32N-08 CAPNS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396391.1 0 0 0 6 548 0 90 0 0 0 0 90 2 0 0 0 0 0 2 1 0.963736 6 541 0 90 2 0 0 0 0 90 2 -1.961768 0 1 120832 2 39 1 1 2 3 2.028586 0 0.100000 2 0.111988 0.260000 0.100000 1.000000 0.220000 0.393061 0.260000 0 1.600000e-01 1 COG8 84342 broad.mit.edu 37 16 69368827 69368827 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:69368827C>T ENST00000306875.4 - 3 1124 c.1010G>A c.(1009-1011)gGc>gAc p.G337D RP11-343C2.12_ENST00000562949.1_5'Flank|COG8_ENST00000562081.1_Missense_Mutation_p.G337D NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 9 GCCGCCTATGCCCCGGTAAAG 0.582000 0 SO:0001583 missense ENST00000306875.4 0 1 hg19 CCDS10876.1 . . . . . . . . . . C 22.2 4.255165 0.80135 . . ENSG00000213380 ENST00000306875 T 0.43688 0.94 5.93 5.93 0.95920 Cullin repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.44953 0.1318 L 0.48935 1.535 0.80722 D 1 B;B 0.34103 0.437;0.437 B;B 0.41174 0.349;0.349 T 0.15578 -1.0432 10 0.12430 T 0.62 -3.5502 20.3363 0.98740 0.0:1.0:0.0:0.0 . 364;337 B4DYU2;Q96MW5 .;COG8_HUMAN D 337 ENSP00000305459:G337D ENSP00000305459:G337D G - 2 0 COG8 67926328 1.000000 0.71417 0.556000 0.28293 0.972000 0.66771 7.441000 0.80485 2.814000 0.96858 0.563000 0.77884 GGC TCGA-US-A774-01A-21D-A32N-08 COG8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268948.2 0 0 0 5 437 0 77 0 2.685186e-01 0 75 0 77 2 0 0 0 0 0 2 1 0.936752 5 434 0 75 2 0 0 0 0 77 2 -3.123785 1 1 121412 2 35 1 1 2 3 2.028586 0 0.100000 2 0.111988 0.280000 0.090000 1.000000 0.220000 0.407223 0.280000 0 1.600000e-01 1 NCOR1 9611 broad.mit.edu 37 17 15935762 15935762 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:15935762G>A ENST00000268712.3 - 46 7428 c.7171C>T c.(7171-7173)Cgg>Tgg p.R2391W NCOR1_ENST00000395857.3_Missense_Mutation_p.R975W|NCOR1_ENST00000395851.1_Missense_Mutation_p.R2288W NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 p.R2391W(1) 107 CTGAGCATCCGCATAGTCAGA 0.468000 1 Substitution - Missense(1) SO:0001583 missense ENST00000268712.3 0 1 hg19 CCDS11175.1 . . . . . . . . . . G 19.18 3.778640 0.70107 . . ENSG00000141027 ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857 T;T;T 0.62364 0.03;0.64;0.15 5.96 3.9 0.45041 . 0.048575 0.85682 D 0.000000 T 0.75510 0.3859 M 0.72894 2.215 0.58432 D 0.999998 D;D;D;D;D 0.89917 1.0;0.999;1.0;1.0;1.0 D;P;D;D;D 0.79108 0.947;0.893;0.992;0.987;0.976 T 0.76418 -0.2966 10 0.87932 D 0 -9.7742 10.6076 0.45402 0.0:0.1166:0.4874:0.3961 . 2294;2391;2288;910;404 E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2 .;NCOR1_HUMAN;.;.;. W 2391;2288;2294;975 ENSP00000268712:R2391W;ENSP00000379192:R2288W;ENSP00000379198:R975W ENSP00000268712:R2391W R - 1 2 NCOR1 15876487 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 3.109000 0.50345 0.780000 0.33566 -0.181000 0.13052 CGG TCGA-US-A774-01A-21D-A32N-08 NCOR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131751.5 0 0 0 5 381 0 64 0 4.295551e-01 0 97 0 64 2 0 0 0 0 0 2 1 0.933980 5 372 0 64 2 0 0 0 0 64 2 -2.245554 0 1 0 0 1 0 0 0 1.902779 0 0.100000 2 0.046610 0.250000 0.090000 0.510000 0.230000 0.276486 0.250000 0 1.600000e-01 3.800000e-01 TLK2 11011 broad.mit.edu 37 17 60689888 60689888 + Missense_Mutation SNP T T G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:60689888T>G ENST00000326270.9 + 23 2549 c.2281T>G c.(2281-2283)Tca>Gca p.S761A TLK2_ENST00000346027.5_Missense_Mutation_p.S739A|TLK2_ENST00000542523.1_Missense_Mutation_p.S707A|TLK2_ENST00000343388.7_Missense_Mutation_p.S707A|TLK2_ENST00000582809.1_Missense_Mutation_p.S590A NM_001284333.1 NP_001271262.1 Q86UE8 TLK2_HUMAN tousled-like kinase 2 39 TGCTATTGCATCAACCTCTGG 0.507000 0 SO:0001583 missense ENST00000326270.9 1 1 hg19 . . . . . . . . . . T 5.315 0.243429 0.10077 . . ENSG00000146872 ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523 T;T;T;T 0.65549 -0.13;-0.16;-0.14;-0.16 5.83 5.83 0.93111 Protein kinase-like domain (1); 0.055808 0.85682 D 0.000000 T 0.54886 0.1886 N 0.08118 0 0.80722 D 1 P;P;P;P 0.47910 0.841;0.902;0.902;0.841 P;P;P;P 0.60236 0.746;0.871;0.871;0.746 T 0.53535 -0.8425 10 0.02654 T 1 . 15.3837 0.74681 0.0:0.0:0.0:1.0 . 761;707;739;739 Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05 TLK2_HUMAN;.;.;. A 739;707;761;707 ENSP00000275780:S739A;ENSP00000340800:S707A;ENSP00000316512:S761A;ENSP00000442311:S707A ENSP00000316512:S761A S + 1 0 TLK2 58043620 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.040000 0.89188 2.231000 0.72958 0.459000 0.35465 TCA TCGA-US-A774-01A-21D-A32N-08 TLK2-004 KNOWN basic protein_coding protein_coding OTTHUMT00000445140.1 0 0 1 13 269 0 49 1 8.182978e-01 8 59 0 49 2 0 0 0 0 0 2 1 0.999463 13 260 0 60 2 0 0 0 0 49 2 -15.149380 1 1 0 0 1 1 2 3 2.025896 0 0.100000 2 0.111111 0.990000 0.540000 1.000000 1.000000 0.904513 0.990000 1 7.400000e-01 1 CACNG1 786 broad.mit.edu 37 17 65051326 65051326 + Nonsense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:65051326C>T ENST00000226021.3 + 3 483 c.412C>T c.(412-414)Cga>Tga p.R138* NM_000727.3 NP_000718.1 Q06432 CCG1_HUMAN calcium channel, voltage-dependent, gamma subunit 1 8 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421) CTATCTGCTGCGACCCGCGTC 0.637000 0 SO:0001587 stop_gained ENST00000226021.3 0 1 hg19 CCDS11668.1 . . . . . . . . . . C 14.18 2.459665 0.43736 . . ENSG00000108878 ENST00000226021 . . . 5.14 0.225 0.15325 . 0.072524 0.56097 D 0.000037 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.06236 T 0.91 . 14.2269 0.65866 0.5757:0.4243:0.0:0.0 . . . . X 138 . ENSP00000226021:R138X R + 1 2 CACNG1 62481788 1.000000 0.71417 0.992000 0.48379 0.137000 0.21094 2.256000 0.43231 -0.214000 0.10078 0.462000 0.41574 CGA TCGA-US-A774-01A-21D-A32N-08 CACNG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000447039.1 0 0 0 6 309 0 45 0 0 0 0 45 2 0 0 0 0 0 2 1 0.964318 6 306 0 44 2 0 0 0 0 45 2 -3.298613 1 1 121412 2 30 1 1 2 3 2.025896 0 0.100000 2 0.111111 0.450000 0.170000 1.000000 0.380000 0.536807 0.450000 0 2.800000e-01 1 ZACN 353174 broad.mit.edu 37 17 74077738 74077738 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:74077738G>A ENST00000334586.5 + 7 865 c.782G>A c.(781-783)cGc>cAc p.R261H EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 11 GCCATTGAGCGCATAGGCTAC 0.622000 0 SO:0001583 missense ENST00000334586.5 0 1 hg19 CCDS11740.2 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 9.702 1.154853 0.21371 . . ENSG00000186919 ENST00000334586 D 0.88431 -2.38 4.64 2.61 0.31194 Neurotransmitter-gated ion-channel transmembrane domain (1); 0.154450 0.43110 N 0.000602 D 0.83755 0.5323 M 0.78285 2.405 0.20196 N 0.999922 P 0.42518 0.782 B 0.28232 0.087 T 0.77517 -0.2558 10 0.87932 D 0 -15.7124 6.8633 0.24079 0.0924:0.0:0.7344:0.1732 . 261 Q401N2 ZACN_HUMAN H 261 ENSP00000334854:R261H ENSP00000334854:R261H R + 2 0 ZACN 71589333 0.751000 0.28327 0.017000 0.16124 0.217000 0.24651 1.805000 0.38883 0.557000 0.29117 0.505000 0.49811 CGC TCGA-US-A774-01A-21D-A32N-08 ZACN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347827.2 0 0 0 6 720 1 145 0 8.076705e-03 0 190 1 145 7 0 0 0 0 0 2 0 0.010129 6 714 1 142 18 0 0 0 1 145 2 -1.756173 0 1 121412 1 33 1 1 2 3 2.025896 0 0.100000 2 0.111111 0.190000 0.070000 1.000000 0.160000 0.337402 0.190000 0 1.200000e-01 1 TP53 7157 broad.mit.edu 37 17 7578404 7578404 + Missense_Mutation SNP A A C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 A C A A Valid Somatic Phase_I WXS targeted Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:7578404A>C ENST00000269305.4 - 5 715 c.526T>G c.(526-528)Tgc>Ggc p.C176G TP53_ENST00000445888.2_Missense_Mutation_p.C176G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176G|TP53_ENST00000420246.2_Missense_Mutation_p.C176G|TP53_ENST00000359597.4_Missense_Mutation_p.C176G|TP53_ENST00000413465.2_Missense_Mutation_p.C176G 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.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) TGGTGGGGGCAGCGCCTCACA 0.647000 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 80 Substitution - Missense(26)|Deletion - Frameshift(25)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3) SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 . . . . . . . . . . A 26.3 4.725152 0.89298 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 D;D;D;D;D;D;D;D 0.99982 -10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61 5.59 5.59 0.84812 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.092184 0.85682 D 0.000000 D 0.99981 0.9994 M 0.92923 3.36 0.80722 D 1 D;D;D;D;D;D;D 0.71674 0.998;0.971;0.983;0.996;0.995;0.977;0.994 D;D;D;D;D;D;D 0.87578 0.998;0.977;0.982;0.998;0.988;0.973;0.996 D 0.96412 0.9305 10 0.87932 D 0 -18.1821 14.037 0.64651 1.0:0.0:0.0:0.0 . 137;176;176;83;176;176;176 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. G 176;176;176;176;176;176;165;83;44;83;44 ENSP00000410739:C176G;ENSP00000352610:C176G;ENSP00000269305:C176G;ENSP00000398846:C176G;ENSP00000391127:C176G;ENSP00000391478:C176G;ENSP00000425104:C44G;ENSP00000423862:C83G ENSP00000269305:C176G C - 1 0 TP53 7519129 1.000000 0.71417 1.000000 0.80357 0.841000 0.47740 9.287000 0.95975 2.263000 0.75096 0.533000 0.62120 TGC TCGA-US-A774-01A-21D-A32N-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 0 0 1 12 342 0 75 1 7.727135e-01 20 62 0 75 2 1 9.999677e-01 41 528 0 797 2 1 0.999077 11 339 0 75 2 0 0 0 0 75 2 -12.527010 1 1 0 0 1 0 0 0 1.902779 0 0.100000 2 0.046610 0.600000 0.340000 0.850000 0.610000 0.613543 0.600000 0 4.600000e-01 7.600000e-01 BAIAP2 10458 broad.mit.edu 37 17 79078379 79078379 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:79078379C>T ENST00000321300.6 + 10 1225 c.1132C>T c.(1132-1134)Cgg>Tgg p.R378W BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TGGCCGTATGCGGGTGAAGGC 0.642000 0 SO:0001583 missense ENST00000321300.6 0 1 hg19 CCDS11775.1 . . . . . . . . . . C 19.77 3.889006 0.72524 . . ENSG00000175866 ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299 T;T;T;T;T;T 0.37411 1.64;1.66;1.21;1.21;1.65;1.2 4.79 2.58 0.30949 Src homology-3 domain (3);Variant SH3 (1); 0.000000 0.85682 D 0.000000 T 0.65780 0.2724 M 0.91920 3.255 0.58432 D 0.999998 D;D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;D;D 0.97110 1.0;1.0;1.0;0.999;0.999;1.0;0.999;0.999;0.999 T 0.75651 -0.3244 10 0.87932 D 0 -18.6775 13.6331 0.62206 0.3669:0.6331:0.0:0.0 . 241;300;379;378;378;378;378;379;378 B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4 .;.;.;BAIP2_HUMAN;.;.;.;.;. W 378;378;378;378;300;241 ENSP00000316338:R378W;ENSP00000401022:R378W;ENSP00000413069:R378W;ENSP00000315685:R378W;ENSP00000376211:R300W;ENSP00000391837:R241W ENSP00000315685:R378W R + 1 2 BAIAP2 76692974 0.985000 0.35326 1.000000 0.80357 0.889000 0.51656 0.882000 0.28186 1.110000 0.41699 0.484000 0.47621 CGG TCGA-US-A774-01A-21D-A32N-08 BAIAP2-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000438553.1 0 0 0 5 377 0 76 0 6.497834e-01 0 157 0 76 2 0 0 0 0 0 2 1 0.937072 5 376 0 76 2 0 0 0 0 76 2 -2.736431 1 1 0 0 1 1 2 3 2.025896 0 0.100000 2 0.111111 0.320000 0.110000 1.000000 0.260000 0.433598 0.320000 0 1.900000e-01 1 RYR1 6261 broad.mit.edu 37 19 38948830 38948830 + Missense_Mutation SNP G G A rs144845360 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:38948830G>A ENST00000359596.3 + 18 2065 c.2065G>A c.(2065-2067)Gag>Aag p.E689K RYR1_ENST00000360985.3_Missense_Mutation_p.E689K|RYR1_ENST00000355481.4_Missense_Mutation_p.E689K P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) GGCCCTCACCGAGGGCTACAC 0.627000 0 SO:0001583 missense ENST00000359596.3 1 1 hg19 CCDS33011.1 . . . . . . . . . . G 18.30 3.593369 0.66219 4.54E-4 0.0 ENSG00000196218 ENST00000359596;ENST00000355481;ENST00000360985 T;T;T 0.73258 -0.73;-0.73;-0.73 5.02 5.02 0.67125 Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1); 0.000000 0.64402 U 0.000002 T 0.76499 0.3996 L 0.46947 1.48 0.38142 D 0.938482 D;P 0.89917 1.0;0.796 D;P 0.66497 0.944;0.459 T 0.73531 -0.3953 10 0.21540 T 0.41 . 14.2501 0.66013 0.0:0.0:0.8505:0.1495 . 689;689 P21817-2;P21817 .;RYR1_HUMAN K 689 ENSP00000352608:E689K;ENSP00000347667:E689K;ENSP00000354254:E689K ENSP00000347667:E689K E + 1 0 RYR1 43640670 1.000000 0.71417 0.967000 0.41034 0.989000 0.77384 4.716000 0.61916 2.623000 0.88846 0.549000 0.68633 GAG TCGA-US-A774-01A-21D-A32N-08 RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 0 0 0 15 505 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 0.999863 15 499 0 88 2 0 0 0 0 88 2 -3.267917 1 1 121408 2 39 1 0 1 1 1.988827 0 0.100000 2 0.091826 0.570000 0.330000 0.890000 0.560000 0.595411 0.570000 0 4.400000e-01 7.300000e-01 PSG6 5675 broad.mit.edu 37 19 43411250 43411250 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:43411250G>A ENST00000292125.2 - 5 1108 c.1064C>T c.(1063-1065)gCg>gTg p.A355V PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V NM_002782.4 NP_002773.1 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 44 Prostate(69;0.00899) GTTAGAGTCCGCAAAGCAGGA 0.448000 0 SO:0001583 missense ENST00000292125.2 0 1 hg19 CCDS12613.1 . . . . . . . . . . N 9.184 1.024244 0.19433 . . ENSG00000170848 ENST00000187910;ENST00000402603;ENST00000292125 T;T;T 0.14144 2.53;2.53;2.53 1.54 1.54 0.23209 Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1); . . . . T 0.13500 0.0327 L 0.50847 1.595 0.09310 N 0.999998 B;B;B 0.34372 0.132;0.292;0.451 B;B;B 0.36244 0.184;0.22;0.185 T 0.20840 -1.0263 9 0.59425 D 0.04 . 6.5495 0.22425 0.0:0.0:1.0:0.0 . 355;355;262 Q00889;Q00889-2;B5MCE1 PSG6_HUMAN;.;. V 355;262;355 ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V ENSP00000187910:A355V A - 2 0 PSG6 48103090 0.001000 0.12720 0.002000 0.10522 0.014000 0.08584 0.729000 0.26028 0.854000 0.35336 0.134000 0.15878 GCG TCGA-US-A774-01A-21D-A32N-08 PSG6-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000321436.1 0 0 0 7 1180 1 209 0 0 0 1 209 2 0 0 0 0 0 2 0 0.008507 4 1170 1 204 20 0 0 0 1 209 2 -1.719683 0 1 121350 3 44 1 1 2 3 2.068315 0 0.100000 2 0.127484 0.140000 0.050000 1.000000 0.130000 0.332326 0.140000 0 9.000000e-02 1 PRKCG 5582 broad.mit.edu 37 19 54392899 54392899 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:54392899G>A ENST00000263431.3 + 4 575 c.293G>A c.(292-294)cGg>cAg p.R98Q PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000536044.1_Missense_Mutation_p.R98Q|PRKCG_ENST00000540413.1_Missense_Mutation_p.R98Q NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) Tamoxifen(DB00675) CAGGACCCCCGGAACAAACAC 0.602000 0 SO:0001583 missense ENST00000263431.3 1 1 hg19 CCDS12867.1 . . . . . . . . . . G 18.21 3.574096 0.65765 . . ENSG00000126583 ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486 D;D;D 0.84370 -1.84;-1.84;-1.84 4.54 4.54 0.55810 . . . . . D 0.82499 0.5050 M 0.74881 2.28 0.80722 D 1 P;B;P;P 0.43701 0.769;0.425;0.815;0.679 B;B;B;B 0.33121 0.149;0.066;0.111;0.158 D 0.84896 0.0839 9 0.45353 T 0.12 . 15.2147 0.73254 0.0:0.0:1.0:0.0 . 98;98;98;98 F5H5C4;B7Z870;B7Z3W6;P05129 .;.;.;KPCG_HUMAN Q 98;98;98;121 ENSP00000440541:R98Q;ENSP00000443493:R98Q;ENSP00000263431:R98Q ENSP00000263431:R98Q R + 2 0 PRKCG 59084711 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 4.634000 0.61325 2.260000 0.74910 0.644000 0.83932 CGG TCGA-US-A774-01A-21D-A32N-08 PRKCG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000139233.3 0 0 0 9 250 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 0.994143 9 247 0 36 2 0 0 0 0 36 2 -3.204568 1 1 0 0 1 1 2 3 2.035163 0 0.100000 2 0.113300 0.800000 0.370000 1.000000 1.000000 0.786227 0.800000 0 5.400000e-01 1 CFD 1675 broad.mit.edu 37 19 861750 861750 + Missense_Mutation SNP C C T rs139666945 byFrequency TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:861750C>T ENST00000327726.6 + 4 646 c.409C>T c.(409-411)Cgc>Tgc p.R137C CFD_ENST00000592860.1_Missense_Mutation_p.R144C NM_001928.2 NP_001919.2 P00746 CFAD_HUMAN complement factor D (adipsin) Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) GCCCTGGCAGCGCGTGGACCG 0.731000 0 SO:0001583 missense ENST00000327726.6 0 1 hg19 CCDS12046.1 . . . . . . . . . . C 13.71 2.316929 0.40996 0.001386 0.0 ENSG00000197766 ENST00000327726 D 0.88896 -2.44 4.06 1.59 0.23543 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.527246 0.13683 U 0.370035 D 0.88966 0.6581 L 0.41492 1.28 0.42835 D 0.994032 D;D 0.89917 1.0;0.999 P;P 0.62089 0.898;0.885 D 0.86253 0.1650 10 0.66056 D 0.02 . 6.682 0.23125 0.277:0.6274:0.0:0.0956 . 144;137 A6XNE2;P00746 .;CFAD_HUMAN C 137 ENSP00000332139:R137C ENSP00000332139:R137C R + 1 0 CFD 812750 0.070000 0.21116 0.477000 0.27303 0.114000 0.19823 0.194000 0.17135 0.805000 0.34159 0.313000 0.20887 CGC TCGA-US-A774-01A-21D-A32N-08 CFD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457891.2 1 0 0 6 96 0 27 1 9.815166e-01 4 118 0 27 2 0 0 0 0 0 2 1 0.965416 5 96 0 27 2 0 0 0 0 27 2 -10.136160 1 1 119336 5 33 1 0 0 0 1.960974 0 0.100000 2 0.075975 0.990000 0.460000 1.000000 1.000000 0.891599 0.990000 1 7.100000e-01 1 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 590 TCATGGAAAAAGGGATAGCTG 0.522000 0 SO:0001819 synonymous_variant ENST00000397910.4 0 1 hg19 CCDS54212.1 TCGA-US-A774-01A-21D-A32N-08 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 0 0 0 4 347 1 75 0 0 0 1 75 2 0 0 0 0 0 2 0 0.004691 4 341 1 74 16 0 0 0 1 75 2 -2.328547 0 1 0 0 1 0 0 0 1.951218 0 0.100000 2 0.071207 0.240000 0.080000 0.510000 0.210000 0.264331 0.240000 0 1.400000e-01 3.700000e-01 HRNR 388697 broad.mit.edu 37 1 152191731 152191731 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:152191731C>T ENST00000368801.2 - 3 2449 c.2374G>A c.(2374-2376)Ggc>Agc p.G792S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGTGTTGGCCGTGGCTGGAG 0.602000 0 SO:0001583 missense ENST00000368801.2 1 1 hg19 CCDS30859.1 . . . . . . . . . . C 7.079 0.569916 0.13560 . . ENSG00000197915 ENST00000368801 T 0.05382 3.45 2.54 0.333 0.15943 . . . . . T 0.01092 0.0036 L 0.36672 1.1 0.09310 N 1 P 0.41978 0.767 B 0.31245 0.126 T 0.48031 -0.9070 9 0.23891 T 0.37 . 4.4579 0.11652 0.0:0.5922:0.0:0.4078 . 792 Q86YZ3 HORN_HUMAN S 792 ENSP00000357791:G792S ENSP00000357791:G792S G - 1 0 HRNR 150458355 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.666000 0.05280 -0.051000 0.13334 0.456000 0.33151 GGC TCGA-US-A774-01A-21D-A32N-08 HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034016.1 0 0 0 11 292 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 0.998292 10 289 0 84 2 0 0 0 0 85 2 -3.115879 1 1 0 0 1 1 2 3 2.023670 0 0.100000 2 0.110672 0.810000 0.410000 1.000000 1.000000 0.796754 0.810000 0 5.700000e-01 1 KCNN3 3782 broad.mit.edu 37 1 154841843 154841843 + Nonsense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:154841843C>A ENST00000271915.4 - 1 913 c.598G>T c.(598-600)Gag>Tag p.E200* KCNN3_ENST00000358505.2_5'Flank NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) Miconazole(DB01110)|Procaine(DB00721) GTCTCGGCCTCGATGAGGTTC 0.637000 0 SO:0001587 stop_gained ENST00000271915.4 0 1 hg19 CCDS30880.1 . . . . . . . . . . C 40 8.086447 0.98646 . . ENSG00000143603 ENST00000271915 . . . 4.75 4.75 0.60458 . 0.000000 0.44285 D 0.000468 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.24483 T 0.36 -19.4109 15.2796 0.73770 0.0:1.0:0.0:0.0 . . . . X 200 . ENSP00000271915:E200X E - 1 0 KCNN3 153108467 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 5.750000 0.68712 2.461000 0.83175 0.561000 0.74099 GAG TCGA-US-A774-01A-21D-A32N-08 KCNN3-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090688.3 0 0 0 7 449 0 95 0 0 0 1 0 95 2 0 0 0 0 0 2 1 0.979839 7 443 0 94 2 0 0 0 0 95 2 -3.303133 1 1 121412 1 30 1 1 2 3 2.023670 0 0.100000 2 0.110672 0.360000 0.150000 1.000000 0.300000 0.461030 0.360000 0 2.300000e-01 1 HMCN1 83872 broad.mit.edu 37 1 186024700 186024700 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:186024700C>T ENST00000271588.4 + 45 7267 c.7038C>T c.(7036-7038)caC>caT p.H2346H HMCN1_ENST00000367492.2_Silent_p.H2346H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 308 ATGAAGGTCACATCCTTCAGC 0.453000 0 SO:0001819 synonymous_variant ENST00000271588.4 1 1 hg19 CCDS30956.1 TCGA-US-A774-01A-21D-A32N-08 HMCN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131848.1 1 0 0 20 392 0 60 0 2.689017e-03 0 2 0 60 2 0 0 0 0 0 2 1 0.999995 20 388 0 60 2 0 0 0 0 60 2 -5.060802 1 1 0 0 1 1 2 3 2.021750 0 0.100000 2 0.110232 0.990000 0.630000 1.000000 1.000000 0.932240 0.990000 1 8.100000e-01 1 HHIPL2 79802 broad.mit.edu 37 1 222696153 222696153 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:222696153G>A ENST00000343410.6 - 9 2023 c.1965C>T c.(1963-1965)ggC>ggT p.G655G HHIPL2_ENST00000473144.1_5'UTR NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 59 CCTGGGCTGGGCCAGAAGCTA 0.458000 0 SO:0001819 synonymous_variant ENST00000343410.6 0 1 hg19 CCDS1530.2 TCGA-US-A774-01A-21D-A32N-08 HHIPL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091499.2 0 0 0 6 796 0 158 0 0 0 0 158 2 0 0 0 0 0 2 1 0.964639 6 793 0 157 2 0 0 0 0 158 2 -1.877766 0 1 0 0 1 1 2 3 2.021750 0 0.100000 2 0.110232 0.170000 0.060000 1.000000 0.150000 0.313788 0.170000 0 1.100000e-01 1 PLD5 200150 broad.mit.edu 37 1 242451663 242451663 + Splice_Site SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:242451663C>T ENST00000536534.2 - 3 737 c.e3+1 PLD5_ENST00000427495.1_Splice_Site|PLD5_ENST00000442594.2_Splice_Site Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ATGTAGCTTACCTGACATGCT 0.413000 0 SO:0001630 splice_region_variant ENST00000536534.2 1 1 hg19 CCDS1621.2 . . . . . . . . . . C 17.12 3.307958 0.60305 . . ENSG00000180287 ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864 . . . 4.33 4.33 0.51752 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 13.9007 0.63802 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . PLD5 240518286 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 5.399000 0.66314 2.134000 0.65973 0.591000 0.81541 . TCGA-US-A774-01A-21D-A32N-08 PLD5-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397213.2 1 0 0 23 460 0 87 0 0 0 0 87 2 0 0 0 0 0 2 1 0.999999 23 443 0 91 2 0 0 0 0 87 2 -5.218896 1 1 0 0 1 1 2 3 2.021750 0 0.100000 2 0.110232 0.990000 0.640000 1.000000 1.000000 0.928419 0.990000 1 8.000000e-01 1 MACF1 23499 broad.mit.edu 37 1 39818849 39818849 + Nonsense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:39818849C>A ENST00000372915.3 + 43 11472 c.11385C>A c.(11383-11385)taC>taA p.Y3795* MACF1_ENST00000564288.1_Nonsense_Mutation_p.Y3790*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Y2230*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Y3827*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Y1728* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGATGGTTACATGGGGGTGA 0.502000 0 SO:0001587 stop_gained ENST00000372915.3 0 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 37|37 6.139508|6.139508 0.97320|0.97320 .|. .|. ENSG00000127603|ENSG00000127603 ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893 .|. .|. .|. 5.35|5.35 0.971|0.971 0.19698|0.19698 .|. .|0.687238 .|0.13641 .|N .|0.372941 T|. 0.08670|. 0.0215|. .|. .|. .|. 0.09310|0.09310 N|N 1|1 .|. .|. .|. .|. .|. .|. T|. 0.34976|. -0.9807|. 4|. .|0.02654 .|T .|1 .|. 1.9822|1.9822 0.03429|0.03429 0.1365:0.489:0.1333:0.2412|0.1365:0.489:0.1333:0.2412 .|. .|. .|. .|. N|X 862|1728;3795;1728;1728;1728;1877;2230 .|. .|ENSP00000289893:Y2230X H|Y +|+ 1|3 0|2 MACF1|MACF1 39591436|39591436 0.000000|0.000000 0.05858|0.05858 0.084000|0.084000 0.20598|0.20598 0.980000|0.980000 0.70556|0.70556 -0.256000|-0.256000 0.08757|0.08757 0.597000|0.597000 0.29811|0.29811 0.555000|0.555000 0.69702|0.69702 CAT|TAC TCGA-US-A774-01A-21D-A32N-08 MACF1-028 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000392096.1 0 0 0 5 259 0 27 0 1.146582e-01 0 25 0 27 2 0 9.858136e-01 0 428 0 586 2 1 0.935597 4 256 0 26 2 0 0 0 0 27 2 -4.032619 1 0 0 0 1 1 2 3 2.009777 0 0.100000 2 0.107586 0.440000 0.160000 1.000000 0.380000 0.514302 0.440000 0 2.700000e-01 8.200000e-01 PTCH2 8643 broad.mit.edu 37 1 45307637 45307637 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:45307637G>A ENST00000372192.3 - 2 277 c.147C>T c.(145-147)tgC>tgT p.C49C PTCH2_ENST00000447098.2_Silent_p.C49C NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 p.C49C(1) 50 Acute lymphoblastic leukemia(166;0.155) TCTGGATCCCGCATCCCAGAG 0.557000 Basal Cell Nevus syndrome 1 Substitution - coding silent(1) SO:0001819 synonymous_variant Familial Cancer Database Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS ENST00000372192.3 0 1 hg19 CCDS516.1 TCGA-US-A774-01A-21D-A32N-08 PTCH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000023428.4 0 0 0 7 678 0 103 0 1.518885e-04 0 2 0 103 2 0 0 0 0 0 2 1 0.980469 7 676 0 102 2 0 0 0 0 103 2 -1.942492 0 1 121412 3 39 1 1 2 3 2.009777 0 0.100000 2 0.107586 0.230000 0.090000 1.000000 0.210000 0.333799 0.230000 0 1.500000e-01 4.100000e-01 CAMTA1 23261 broad.mit.edu 37 1 7724800 7724800 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:7724800C>T ENST00000303635.7 + 9 2400 c.2193C>T c.(2191-2193)ggC>ggT p.G731G CAMTA1_ENST00000439411.2_Silent_p.G731G NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) GAAGCGCCGGCGGCGTCCCCA 0.672000 T WWTR1 epitheliod hemangioendothelioma Dom yes 1 1p36.31-p36.23 611501 calmodulin binding transcription activator 1 M 0 SO:0001819 synonymous_variant ENST00000303635.7 1 1 hg19 CCDS30576.1 TCGA-US-A774-01A-21D-A32N-08 CAMTA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000003588.3 0 0 0 16 438 0 78 0 0 0 0 78 2 0 0 0 0 0 2 1 0.999932 16 435 0 78 2 0 0 0 0 78 2 -3.750184 1 1 121394 2 31 1 1 2 3 2.027742 0 0.100000 2 0.111550 0.770000 0.440000 1.000000 1.000000 0.782958 0.770000 0 5.800000e-01 1 LPAR3 23566 broad.mit.edu 37 1 85331338 85331338 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:85331338C>T ENST00000440886.1 - 1 504 c.466G>A c.(466-468)Gcc>Acc p.A156T LPAR3_ENST00000370611.3_Missense_Mutation_p.A156T|LPAR3_ENST00000491034.1_Intron Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 p.A156T(1) 24 ATAAAAATGGCGATGGCCCAG 0.542000 1 Substitution - Missense(1) SO:0001583 missense ENST00000440886.1 0 1 hg19 CCDS700.1 . . . . . . . . . . C 17.94 3.512109 0.64522 . . ENSG00000171517 ENST00000440886;ENST00000370611 T;T 0.41758 0.99;0.99 5.32 5.32 0.75619 GPCR, rhodopsin-like superfamily (1); 0.050820 0.85682 D 0.000000 T 0.57344 0.2047 M 0.86740 2.835 0.49798 D 0.999824 D 0.63046 0.992 P 0.53490 0.727 T 0.67703 -0.5602 10 0.87932 D 0 . 19.0389 0.92991 0.0:1.0:0.0:0.0 . 156 Q9UBY5 LPAR3_HUMAN T 156 ENSP00000395389:A156T;ENSP00000359643:A156T ENSP00000359643:A156T A - 1 0 LPAR3 85103926 1.000000 0.71417 0.995000 0.50966 0.363000 0.29612 6.295000 0.72744 2.501000 0.84356 0.655000 0.94253 GCC TCGA-US-A774-01A-21D-A32N-08 LPAR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027467.1 0 0 0 8 845 1 163 0 0 0 1 1 163 2 0 0 0 0 0 2 0 0.035459 8 841 1 162 18 0 0 0 1 163 2 -1.947664 0 1 121412 3 40 1 1 2 3 2.009777 0 0.100000 2 0.107586 0.210000 0.090000 1.000000 0.190000 0.314903 0.210000 0 1.400000e-01 3.600000e-01 BAGE2 85319 broad.mit.edu 37 21 11097591 11097591 + RNA SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr21:11097591G>A ENST00000470054.1 - 0 278 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) caccacaggggactcctcctt 0.542000 0 ENST00000470054.1 0 1 hg19 TCGA-US-A774-01A-21D-A32N-08 BAGE2-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000157417.3 0 0 0 22 512 1 68 0 0 0 1 68 2 0 0 0 0 0 2 0 0.388484 15 389 1 72 19 0 0 0 1 68 2 -19.949720 1 1 118292 1 31 1 0.100000 2 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999888 45999888 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr21:45999888G>A ENST00000400372.1 - 1 593 c.568C>T c.(568-570)Ccc>Tcc p.P190S TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 14 GAGCAGACGGGCACACAGCAG 0.622000 0 SO:0001583 missense ENST00000400372.1 0 1 hg19 CCDS42958.1 . . . . . . . . . . g 6.527 0.465563 0.12402 . . ENSG00000241123 ENST00000400372 T 0.01279 5.06 2.02 1.07 0.20283 . . . . . T 0.04815 0.0130 L 0.53249 1.67 0.09310 N 1 D 0.89917 1.0 D 0.85130 0.997 T 0.38394 -0.9663 9 0.45353 T 0.12 . 7.3404 0.26633 0.0:0.0:0.737:0.263 . 190 P60370 KR105_HUMAN S 190 ENSP00000383223:P190S ENSP00000383223:P190S P - 1 0 KRTAP10-5 44824316 0.002000 0.14202 0.001000 0.08648 0.036000 0.12997 0.039000 0.13884 0.163000 0.19507 0.305000 0.20034 CCC TCGA-US-A774-01A-21D-A32N-08 KRTAP10-5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128042.1 0 0 0 8 1250 0 259 0 0 0 0 259 2 0 0 0 0 0 2 1 0.988168 7 1219 0 261 2 0 0 0 0 259 2 -2.021180 0 1 0 0 1 0 1 1 1.998143 0 0.100000 2 0.094112 0.130000 0.050000 0.240000 0.130000 0.140840 0.130000 0 8.000000e-02 1.900000e-01 MYO18B 84700 broad.mit.edu 37 22 26422752 26422752 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:26422752G>A ENST00000407587.2 + 43 6984 c.6815G>A c.(6814-6816)gGc>gAc p.G2272D MYO18B_ENST00000335473.7_Missense_Mutation_p.G2271D|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2271D Q8IUG5 MY18B_HUMAN myosin XVIIIB 146 TCCACGCTGGGCCTAGAGGAC 0.647000 0 SO:0001583 missense ENST00000407587.2 0 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.01|16.01 2.999971|2.999971 0.54147|0.54147 .|. .|. ENSG00000133454|ENSG00000133454 ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587 .|D;D;D .|0.92299 .|-2.99;-2.99;-3.01 4.67|4.67 3.25|3.25 0.37280|0.37280 .|. .|0.544752 .|0.15001 .|N .|0.286133 D|D 0.88317|0.88317 0.6404|0.6404 L|L 0.50333|0.50333 1.59|1.59 0.09310|0.09310 N|N 1|1 .|P;P;P;P;P .|0.49783 .|0.835;0.883;0.883;0.9;0.928 .|P;B;B;P;P .|0.44990 .|0.466;0.274;0.274;0.466;0.463 T|T 0.79137|0.79137 -0.1927|-0.1927 5|10 .|0.37606 .|T .|0.19 .|. 4.4138|4.4138 0.11447|0.11447 0.1586:0.0:0.6468:0.1947|0.1586:0.0:0.6468:0.1947 .|. .|1784;2273;2271;2272;2271 .|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7 .|.;.;MY18B_HUMAN;.;. T|D 221|2271;2271;2272 .|ENSP00000441229:G2271D;ENSP00000334563:G2271D;ENSP00000386096:G2272D .|ENSP00000334563:G2271D A|G +|+ 1|2 0|0 MYO18B|MYO18B 24752752|24752752 0.879000|0.879000 0.30193|0.30193 0.986000|0.986000 0.45419|0.45419 0.910000|0.910000 0.53928|0.53928 1.586000|1.586000 0.36611|0.36611 0.602000|0.602000 0.29896|0.29896 0.313000|0.313000 0.20887|0.20887 GCC|GGC TCGA-US-A774-01A-21D-A32N-08 MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000400691.1 1 0 1 6 49 0 16 0 0 0 0 16 2 0 0 0 0 0 2 1 0.967893 6 49 0 16 2 0 0 0 0 16 2 -12.364340 1 1 0 0 1 1 2 3 2.013639 0 0.100000 2 0.108470 0.990000 0.850000 1.000000 1.000000 0.991258 0.990000 1 9.900000e-01 1 SEZ6L 23544 broad.mit.edu 37 22 26693012 26693012 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:26693012C>T ENST00000248933.6 + 4 1223 c.1128C>T c.(1126-1128)gaC>gaT p.D376D SEZ6L_ENST00000403121.1_Silent_p.D149D|SEZ6L_ENST00000360929.3_Silent_p.D376D|SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000529632.2_Silent_p.D376D|SEZ6L_ENST00000402979.1_Silent_p.D149D Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like p.D376D(2) 80 CCTTCCAGGACGACGGCCTTG 0.577000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000248933.6 0 1 hg19 CCDS13833.1 TCGA-US-A774-01A-21D-A32N-08 SEZ6L-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000320359.3 0 0 0 5 220 0 27 0 4.645534e-03 0 4 0 27 2 0 0 0 0 0 2 1 0.933710 5 214 0 27 2 0 0 0 0 27 2 -6.542302 1 1 121412 6 33 1 1 2 3 2.013639 0 0.100000 2 0.108470 0.520000 0.190000 1.000000 1.000000 0.582528 0.520000 0 3.200000e-01 1 LCT 3938 broad.mit.edu 37 2 136575286 136575286 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:136575286G>A ENST00000264162.2 - 6 1342 c.1332C>T c.(1330-1332)tgC>tgT p.C444C AC011893.3_ENST00000437007.1_RNA NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 124 Vitamin C(DB00126) CCCGGAGGCCGCAAAGCAGGG 0.647000 0 SO:0001819 synonymous_variant ENST00000264162.2 0 1 hg19 CCDS2178.1 TCGA-US-A774-01A-21D-A32N-08 LCT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254657.1 0 0 0 5 492 0 91 0 0 0 0 91 2 0 0 0 0 0 2 1 0.936835 5 489 0 91 2 0 0 0 0 91 2 -2.320242 0 1 121412 7 40 1 1 2 3 2.015746 0 0.100000 2 0.108911 0.240000 0.080000 1.000000 0.200000 0.354278 0.240000 0 1.400000e-01 5.200000e-01 MCM6 4175 broad.mit.edu 37 2 136615535 136615535 + Missense_Mutation SNP G G A rs138808270 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:136615535G>A ENST00000264156.2 - 10 1462 c.1402C>T c.(1402-1404)Cgg>Tgg p.R468W MCM6_ENST00000492091.1_Intron NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 29 ACTTGATCCCGCACGTCCATC 0.428000 Ovarian(196;141 2104 8848 24991 25939) 0 SO:0001583 missense ENST00000264156.2 0 1 hg19 CCDS2179.1 . . . . . . . . . . G 19.87 3.906911 0.72868 2.27E-4 0.0 ENSG00000076003 ENST00000264156 T 0.07021 3.23 5.68 2.57 0.30868 . 0.090508 0.64402 D 0.000001 T 0.23926 0.0579 M 0.73598 2.24 0.54753 D 0.999987 D 0.76494 0.999 D 0.70227 0.968 T 0.00722 -1.1594 10 0.87932 D 0 -9.4893 9.1095 0.36718 0.0764:0.0:0.5305:0.3931 . 468 Q14566 MCM6_HUMAN W 468 ENSP00000264156:R468W ENSP00000264156:R468W R - 1 2 MCM6 136332005 1.000000 0.71417 0.975000 0.42487 0.965000 0.64279 2.518000 0.45537 0.738000 0.32606 0.561000 0.74099 CGG TCGA-US-A774-01A-21D-A32N-08 MCM6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254658.1 0 0 0 6 734 0 122 0 1.491005e-01 0 70 0 122 2 0 0 0 0 0 2 1 0.963408 6 724 0 118 2 0 0 0 0 122 2 -1.905136 0 1 121412 1 38 1 1 2 3 2.015746 0 0.100000 2 0.108911 0.190000 0.070000 1.000000 0.160000 0.311491 0.190000 0 1.200000e-01 3.900000e-01 TPO 7173 broad.mit.edu 37 2 1480921 1480921 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:1480921G>A ENST00000345913.4 + 8 974 c.883G>A c.(883-885)Gcc>Acc p.A295T TPO_ENST00000382198.1_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A295T|TPO_ENST00000382201.3_Missense_Mutation_p.A295T|TPO_ENST00000337415.3_Missense_Mutation_p.A295T|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A295T NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTCTTCGGCCGCCTGCGGCAC 0.706000 0 SO:0001583 missense ENST00000345913.4 1 1 hg19 CCDS1643.1 . . . . . . . . . . G 14.39 2.521755 0.44866 . . ENSG00000115705 ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464 T;T;T;T;T;T 0.69685 -0.42;-0.42;-0.42;-0.42;-0.42;-0.42 4.99 4.11 0.48088 . 0.223965 0.45606 D 0.000357 T 0.68696 0.3029 M 0.62154 1.92 0.80722 D 1 P;P;P 0.52692 0.955;0.885;0.906 P;B;P 0.47891 0.543;0.311;0.56 T 0.70174 -0.4944 10 0.45353 T 0.12 -20.3944 13.6977 0.62589 0.0756:0.0:0.9244:0.0 . 295;295;295 P07202-4;P07202-2;P07202 .;.;PERT_HUMAN T 295;295;295;295;295;224 ENSP00000337263:A295T;ENSP00000318820:A295T;ENSP00000263886:A295T;ENSP00000329869:A295T;ENSP00000371636:A295T;ENSP00000405788:A224T ENSP00000329869:A295T A + 1 0 TPO 1459928 0.326000 0.24669 0.607000 0.28956 0.013000 0.08279 3.117000 0.50407 1.089000 0.41292 0.460000 0.39030 GCC TCGA-US-A774-01A-21D-A32N-08 TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206594.2 1 0 0 10 106 0 34 0 0 0 0 34 2 0 0 0 0 0 2 1 0.996763 10 102 0 34 2 0 0 0 0 34 2 -15.499060 1 1 120874 1 26 1 1 2 3 2.027266 0 0.100000 2 0.111550 0.990000 0.910000 1.000000 1.000000 0.994513 0.990000 1 9.900000e-01 1 ACVR2A 92 broad.mit.edu 37 2 148657443 148657443 + Nonsense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 C A C C Valid Somatic Phase_I WXS targeted Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:148657443C>A ENST00000241416.7 + 4 1140 c.504C>A c.(502-504)taC>taA p.Y168* ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y168*|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y60* 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 AGATGGCCTACCCTCCTGTAC 0.388000 0 SO:0001587 stop_gained ENST00000241416.7 0 1 hg19 CCDS33301.1 . . . . . . . . . . C 39 7.653516 0.98412 . . ENSG00000121989 ENST00000241416;ENST00000535787;ENST00000404590 . . . 5.22 0.915 0.19366 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 8.6266 0.33892 0.0:0.4945:0.0:0.5055 . . . . X 168;60;168 . ENSP00000241416:Y168X Y + 3 2 ACVR2A 148373913 0.989000 0.36119 1.000000 0.80357 0.991000 0.79684 0.268000 0.18571 0.174000 0.19809 0.585000 0.79938 TAC TCGA-US-A774-01A-21D-A32N-08 ACVR2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319051.1 0 0 0 20 526 0 119 1 4.246537e-01 2 36 0 119 2 1 9.996427e-01 20 535 1 757 5 1 0.999995 20 521 0 118 2 0 0 0 0 119 2 -3.561369 1 0 0 0 1 1 2 3 2.015746 0 0.100000 2 0.108911 0.780000 0.470000 1.000000 1.000000 0.792233 0.780000 0 6.100000e-01 1 ACVR2A 92 broad.mit.edu 37 2 148657447 148657447 + Missense_Mutation SNP C C G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 C G C C Valid Somatic Phase_I WXS targeted Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:148657447C>G ENST00000241416.7 + 4 1144 c.508C>G c.(508-510)Cct>Gct p.P170A ACVR2A_ENST00000404590.1_Missense_Mutation_p.P170A|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.P62A 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 GGCCTACCCTCCTGTACTTGT 0.383000 0 SO:0001583 missense ENST00000241416.7 1 1 hg19 CCDS33301.1 . . . . . . . . . . C 9.819 1.185208 0.21870 . . ENSG00000121989 ENST00000241416;ENST00000535787;ENST00000404590 D;D;D 0.83506 -1.73;-1.64;-1.73 5.22 5.22 0.72569 Protein kinase-like domain (1); 0.047266 0.85682 D 0.000000 T 0.73877 0.3643 L 0.31294 0.92 0.58432 D 0.999993 B 0.02656 0.0 B 0.04013 0.001 T 0.67960 -0.5535 10 0.11182 T 0.66 . 17.333 0.87271 0.0:1.0:0.0:0.0 . 170 P27037 AVR2A_HUMAN A 170;62;170 ENSP00000241416:P170A;ENSP00000439988:P62A;ENSP00000384338:P170A ENSP00000241416:P170A P + 1 0 ACVR2A 148373917 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 4.550000 0.60733 2.608000 0.88229 0.585000 0.79938 CCT TCGA-US-A774-01A-21D-A32N-08 ACVR2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319051.1 0 0 0 19 512 0 113 1 3.897117e-01 2 34 0 113 2 1 9.999932e-01 20 527 0 742 2 1 0.999990 19 508 0 112 2 0 0 0 0 113 2 -3.382659 1 0 0 0 1 1 2 3 2.015746 0 0.100000 2 0.108911 0.760000 0.460000 1.000000 1.000000 0.779410 0.760000 0 5.900000e-01 1 DPP4 1803 broad.mit.edu 37 2 162875264 162875264 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:162875264C>T ENST00000360534.3 - 16 1955 c.1395G>A c.(1393-1395)gcG>gcA p.A465A DPP4_ENST00000491591.1_5'Flank NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 p.A465A(2) 48 Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876) GATAATACTTCGCCTCTTTAC 0.473000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000360534.3 1 1 hg19 CCDS2216.1 TCGA-US-A774-01A-21D-A32N-08 DPP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255079.2 1 0 1 15 338 0 67 1 5.297326e-01 8 32 0 67 2 0 0 0 0 0 2 1 0.999880 15 338 0 67 2 0 0 0 0 67 2 -3.089797 1 1 0 0 1 1 2 3 2.015746 0 0.100000 2 0.108911 0.910000 0.520000 1.000000 1.000000 0.868360 0.910000 1 6.900000e-01 1 ITGA4 3676 broad.mit.edu 37 2 182358062 182358062 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:182358062C>T ENST00000397033.2 + 11 1594 c.1164C>T c.(1162-1164)atC>atT p.I388I NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108)|Tinzaparin(DB06822) ATGTTGCTATCGGAGCTCCAC 0.353000 0 SO:0001819 synonymous_variant ENST00000397033.2 1 1 hg19 CCDS42788.1 TCGA-US-A774-01A-21D-A32N-08 ITGA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334427.1 0 0 0 8 356 0 64 0 9.747562e-02 0 21 0 64 2 0 0 0 0 0 2 1 0.988567 7 349 0 63 2 0 0 0 0 64 2 -2.732104 1 1 120802 3 36 1 1 2 3 2.015746 0 0.100000 2 0.108911 0.500000 0.220000 1.000000 0.440000 0.563271 0.500000 0 3.300000e-01 9.300000e-01 CEBPZ 10153 broad.mit.edu 37 2 37456107 37456107 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:37456107C>T ENST00000234170.5 - 2 374 c.229G>A c.(229-231)Gat>Aat p.D77N NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 28 all_hematologic(82;0.21) TGAAGGTCATCGATTGCTCCT 0.358000 0 SO:0001583 missense ENST00000234170.5 0 1 hg19 CCDS1787.1 . . . . . . . . . . C 18.28 3.588983 0.66105 . . ENSG00000115816 ENST00000234170;ENST00000545744;ENST00000446769 T;T 0.02369 4.32;4.32 5.65 5.65 0.86999 . 0.000000 0.85682 D 0.000000 T 0.11024 0.0269 L 0.36672 1.1 0.58432 D 0.999999 D 0.89917 1.0 D 0.76575 0.988 T 0.01988 -1.1234 10 0.87932 D 0 . 19.7248 0.96160 0.0:1.0:0.0:0.0 . 77 Q03701 CEBPZ_HUMAN N 77;77;28 ENSP00000234170:D77N;ENSP00000391881:D28N ENSP00000234170:D77N D - 1 0 CEBPZ 37309611 1.000000 0.71417 0.987000 0.45799 0.218000 0.24690 7.273000 0.78527 2.642000 0.89623 0.655000 0.94253 GAT TCGA-US-A774-01A-21D-A32N-08 CEBPZ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000218569.2 1 0 1 8 169 0 20 1 6.351920e-01 9 36 0 20 2 0 0 0 0 0 2 1 0.988060 8 162 0 20 2 0 0 0 0 20 2 -3.690909 1 1 0 0 1 1 2 3 2.015746 0 0.100000 2 0.108911 0.990000 0.460000 1.000000 1.000000 0.880696 0.990000 1 6.800000e-01 1 PCGF1 84759 broad.mit.edu 37 2 74733907 74733907 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:74733907G>A ENST00000233630.6 - 3 1215 c.304C>T c.(304-306)Cgg>Tgg p.R102W PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA NM_032673.2 NP_116062.2 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 12 TGCATGACCCGGTCCAGTTTG 0.502000 0 SO:0001583 missense ENST00000233630.6 0 1 hg19 CCDS1946.2 . . . . . . . . . . G 22.8 4.337545 0.81911 0.0 1.16E-4 ENSG00000115289 ENST00000233630 T 0.18502 2.21 5.69 4.82 0.62117 Zinc finger, RING/FYVE/PHD-type (1); 0.144062 0.47455 D 0.000222 T 0.43100 0.1232 M 0.82823 2.61 0.49483 D 0.999795 D 0.89917 1.0 D 0.83275 0.996 T 0.43956 -0.9359 10 0.87932 D 0 -14.6772 10.3893 0.44158 0.0894:0.0:0.9106:0.0 . 102 Q9BSM1 PCGF1_HUMAN W 102 ENSP00000233630:R102W ENSP00000233630:R102W R - 1 2 PCGF1 74587415 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 3.207000 0.51106 1.413000 0.46997 0.655000 0.94253 CGG TCGA-US-A774-01A-21D-A32N-08 PCGF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252216.1 0 0 0 6 458 0 74 0 4.041833e-01 0 95 0 74 2 0 0 0 0 0 2 1 0.963764 6 452 0 74 2 0 0 0 0 74 2 -2.540384 1 1 0 0 1 1 2 3 2.015746 0 0.100000 2 0.108911 0.300000 0.110000 1.000000 0.260000 0.404502 0.300000 0 1.900000e-01 6.200000e-01 CCDC80 151887 broad.mit.edu 37 3 112357638 112357638 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:112357638G>A ENST00000206423.3 - 2 2068 c.1115C>T c.(1114-1116)gCt>gTt p.A372V CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.A372V NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 51 AGGTCTTGCAGCAACTGTTAC 0.642000 0 SO:0001583 missense ENST00000206423.3 0 1 hg19 CCDS2968.1 . . . . . . . . . . G 19.37 3.814389 0.70912 . . ENSG00000091986 ENST00000206423;ENST00000439685 T;T 0.49139 0.79;0.79 4.89 4.89 0.63831 . 0.110597 0.64402 D 0.000007 T 0.36936 0.0985 L 0.27053 0.805 0.80722 D 1 B;P;B 0.41393 0.419;0.748;0.295 B;B;B 0.37650 0.187;0.255;0.091 T 0.16100 -1.0414 10 0.30078 T 0.28 -7.3048 18.2349 0.89946 0.0:0.0:1.0:0.0 . 383;372;372 Q76M96-2;A3KC71;Q76M96 .;.;CCD80_HUMAN V 372 ENSP00000206423:A372V;ENSP00000411814:A372V ENSP00000206423:A372V A - 2 0 CCDC80 113840328 0.994000 0.37717 0.108000 0.21378 0.034000 0.12701 5.501000 0.66950 2.535000 0.85469 0.555000 0.69702 GCT TCGA-US-A774-01A-21D-A32N-08 CCDC80-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354219.1 0 0 0 5 423 1 73 0 2.291097e-03 0 415 1 73 19 0 0 0 0 0 2 0 0.002046 5 404 1 72 19 0 0 0 1 73 2 -3.306992 1 1 0 0 1 0 0 0 1.974767 0 0.100000 2 0.082569 0.240000 0.090000 0.490000 0.220000 0.266677 0.240000 0 1.500000e-01 3.700000e-01 B3GNT5 84002 broad.mit.edu 37 3 182988349 182988349 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:182988349G>A ENST00000326505.3 + 2 1293 c.763G>A c.(763-765)Gga>Aga p.G255R MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.G255R|B3GNT5_ENST00000465010.1_Missense_Mutation_p.G255R NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CTACACAGCCGGAGCTGCCTA 0.473000 0 SO:0001583 missense ENST00000326505.3 0 1 hg19 CCDS3244.1 . . . . . . . . . . G 15.21 2.767063 0.49574 . . ENSG00000176597 ENST00000326505;ENST00000460419;ENST00000465010 T;T;T 0.68181 -0.31;-0.31;-0.31 5.91 5.04 0.67666 . 0.000000 0.85682 D 0.000000 D 0.86871 0.6037 H 0.95151 3.63 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.90542 0.4503 10 0.62326 D 0.03 . 15.1217 0.72450 0.0677:0.0:0.9323:0.0 . 255 Q9BYG0 B3GN5_HUMAN R 255 ENSP00000316173:G255R;ENSP00000420778:G255R;ENSP00000417868:G255R ENSP00000316173:G255R G + 1 0 B3GNT5 184471043 1.000000 0.71417 0.075000 0.20258 0.107000 0.19398 9.869000 0.99810 1.514000 0.48869 -0.145000 0.13849 GGA TCGA-US-A774-01A-21D-A32N-08 B3GNT5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351009.1 0 0 0 4 263 0 54 0 1.375242e-01 0 34 0 54 2 0 0 0 0 0 2 1 0.887506 4 259 0 54 2 0 0 0 0 54 2 -3.671909 1 1 121412 2 35 1 1 2 3 2.109877 1 0.100000 2 0.130855 0.390000 0.120000 1.000000 0.300000 0.498858 0.390000 0 2.200000e-01 1 LPP 4026 broad.mit.edu 37 3 188592235 188592235 + Missense_Mutation SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:188592235G>T ENST00000312675.4 + 11 2053 c.1807G>T c.(1807-1809)Gtg>Ttg p.V603L LPP_ENST00000543006.1_Missense_Mutation_p.V603L NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma HMGA2/LPP(161) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) CCGCATCAGGGTGTTGACCGC 0.512000 T HMGA2, MLL, C12orf9 lipoma, leukemia Dom yes 3 3q28 4026 LIM domain containing preferred translocation partner in lipoma L, M 0 SO:0001583 missense ENST00000312675.4 1 1 hg19 CCDS3291.1 . . . . . . . . . . G 17.42 3.384829 0.61956 . . ENSG00000145012 ENST00000312675;ENST00000543006 T;T 0.54675 0.56;0.56 5.79 4.92 0.64577 Zinc finger, LIM-type (1); 0.173178 0.51477 D 0.000096 T 0.41971 0.1182 L 0.29908 0.895 0.33682 D 0.612234 B;B 0.25955 0.003;0.138 B;B 0.25987 0.003;0.065 T 0.53012 -0.8498 10 0.37606 T 0.19 . 13.6926 0.62556 0.0737:0.0:0.9263:0.0 . 456;603 B7Z8W0;Q93052 .;LPP_HUMAN L 603 ENSP00000318089:V603L;ENSP00000438891:V603L ENSP00000318089:V603L V + 1 0 LPP 190074929 1.000000 0.71417 0.995000 0.50966 0.998000 0.95712 8.025000 0.88777 1.444000 0.47605 0.655000 0.94253 GTG TCGA-US-A774-01A-21D-A32N-08 LPP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344030.1 1 0 0 18 418 0 59 0 3.111652e-01 1 25 0 59 2 0 0 0 0 0 2 1 0.999981 18 414 0 59 2 0 0 0 0 59 2 -4.369263 1 1 0 0 1 1 2 3 2.109877 1 0.100000 2 0.130855 0.920000 0.540000 1.000000 1.000000 0.877981 0.920000 1 7.000000e-01 1 SCN11A 11280 broad.mit.edu 37 3 38913712 38913712 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:38913712C>T ENST00000302328.3 - 20 3665 c.3467G>A c.(3466-3468)cGt>cAt p.R1156H SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1156H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156H NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 119 Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909) GGACAGCGCACGAAGAGGCCT 0.463000 0 SO:0001583 missense ENST00000302328.3 0 1 hg19 CCDS33737.1 . . . . . . . . . . C 18.75 3.691614 0.68271 0.0 1.16E-4 ENSG00000168356 ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237 D;D;D;D 0.98455 -4.94;-4.94;-4.94;-4.94 5.54 5.54 0.83059 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.99369 0.9778 H 0.96833 3.89 0.40458 D 0.980215 D 0.89917 1.0 D 0.97110 1.0 D 0.98977 1.0803 10 0.87932 D 0 . 18.0499 0.89344 0.0:1.0:0.0:0.0 . 1156 Q9UI33 SCNBA_HUMAN H 1156;1156;1118;1156 ENSP00000307599:R1156H;ENSP00000400945:R1156H;ENSP00000416757:R1118H;ENSP00000408028:R1156H ENSP00000307599:R1156H R - 2 0 SCN11A 38888716 0.860000 0.29831 0.044000 0.18714 0.102000 0.19082 7.729000 0.84864 2.596000 0.87737 0.561000 0.74099 CGT TCGA-US-A774-01A-21D-A32N-08 SCN11A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109746.4 0 0 0 8 704 0 109 0 0 0 1 0 109 2 0 0 0 0 0 2 1 0.988911 8 696 0 107 2 0 0 0 0 109 2 -2.642222 1 1 121412 6 41 1 0 0 0 1.974767 0 0.100000 2 0.082569 0.220000 0.100000 0.410000 0.220000 0.243457 0.220000 0 1.500000e-01 3.200000e-01 RBM6 10180 broad.mit.edu 37 3 50095912 50095912 + Missense_Mutation SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:50095912A>G ENST00000266022.4 + 10 2306 c.2047A>G c.(2047-2049)Act>Gct p.T683A RBM6_ENST00000442092.1_Missense_Mutation_p.T161A|RBM6_ENST00000539992.1_Missense_Mutation_p.T25A|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.T161A|RBM6_ENST00000443081.1_Missense_Mutation_p.T551A NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 33 TGTCCGCCTTACTACTGCCAA 0.498000 0 SO:0001583 missense ENST00000266022.4 1 1 hg19 CCDS2809.1 . . . . . . . . . . A 14.05 2.420772 0.42918 . . ENSG00000004534 ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955 T;T;T;T;T 0.40476 1.27;1.27;1.27;1.03;1.27 5.71 4.51 0.55191 Nucleotide-binding, alpha-beta plait (1); 0.465551 0.23487 N 0.047660 T 0.16938 0.0407 N 0.03608 -0.345 0.22199 N 0.9993 B;B 0.26935 0.139;0.164 B;B 0.28465 0.042;0.09 T 0.12889 -1.0530 9 . . . -3.4384 4.6373 0.12530 0.625:0.0:0.0942:0.2808 . 551;683 E9PGM9;P78332 .;RBM6_HUMAN A 161;683;551;25;161 ENSP00000393530:T161A;ENSP00000266022:T683A;ENSP00000396466:T551A;ENSP00000443165:T25A;ENSP00000392939:T161A . T + 1 0 RBM6 50070916 0.920000 0.31207 0.993000 0.49108 0.997000 0.91878 2.437000 0.44828 2.189000 0.69895 0.529000 0.55759 ACT TCGA-US-A774-01A-21D-A32N-08 RBM6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345528.4 1 0 1 48 611 0 136 1 9.917471e-01 21 74 0 136 2 0 0 0 0 0 2 1 1.000000 48 612 0 134 2 0 0 0 0 136 2 -20.000000 1 1 0 0 1 0 0 0 1.974767 0 0.100000 2 0.082569 0.990000 0.990000 1.000000 1.000000 0.999511 0.990000 1 9.900000e-01 1 STAB1 23166 broad.mit.edu 37 3 52548769 52548769 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:52548769G>A ENST00000321725.6 + 35 3807 c.3731G>A c.(3730-3732)cGc>cAc p.R1244H NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 76 GCCCCTGGCCGCTCGCTGATT 0.662000 0 SO:0001583 missense ENST00000321725.6 0 1 hg19 CCDS33768.1 . . . . . . . . . . G 14.49 2.551298 0.45383 . . ENSG00000010327 ENST00000321725 D 0.84944 -1.92 5.72 3.94 0.45596 FAS1 domain (3); 0.314687 0.33631 N 0.004717 T 0.69043 0.3067 N 0.22421 0.69 0.09310 N 1 P 0.45634 0.863 B 0.31016 0.123 T 0.62358 -0.6871 10 0.48119 T 0.1 -9.0658 8.7596 0.34667 0.162:0.0:0.838:0.0 . 1244 Q9NY15 STAB1_HUMAN H 1244 ENSP00000312946:R1244H ENSP00000312946:R1244H R + 2 0 STAB1 52523809 0.560000 0.26570 0.393000 0.26258 0.829000 0.46940 1.856000 0.39389 0.780000 0.33566 0.561000 0.74099 CGC TCGA-US-A774-01A-21D-A32N-08 STAB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351380.2 0 0 0 6 491 0 89 0 8.291077e-02 0 33 0 89 2 0 0 0 0 0 2 1 0.963606 6 484 0 87 2 0 0 0 0 89 2 -3.066380 1 1 121406 1 33 1 0 0 0 1.974767 0 0.100000 2 0.082569 0.250000 0.100000 0.480000 0.230000 0.269090 0.250000 0 1.600000e-01 3.600000e-01 BDH2 56898 broad.mit.edu 37 4 104000881 104000881 + Missense_Mutation SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:104000881A>G ENST00000296424.4 - 10 836 c.716T>C c.(715-717)aTt>aCt p.I239T SLC9B2_ENST00000339611.4_5'Flank|SLC9B2_ENST00000503230.1_5'Flank|SLC9B2_ENST00000394785.3_5'Flank NM_020139.3 NP_064524.3 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 10 Hepatocellular(203;0.217) GCCTCCATCAATGATGACAGG 0.438000 0 SO:0001583 missense ENST00000296424.4 0 1 hg19 CCDS3663.1 . . . . . . . . . . A 23.2 4.392016 0.83011 . . ENSG00000164039 ENST00000296424 T 0.25414 1.8 5.31 5.31 0.75309 NAD(P)-binding domain (1); 0.232522 0.43579 D 0.000549 T 0.48333 0.1494 M 0.72624 2.21 0.80722 D 1 D 0.61697 0.99 D 0.67900 0.954 T 0.51100 -0.8748 10 0.87932 D 0 . 13.0737 0.59075 1.0:0.0:0.0:0.0 . 239 Q9BUT1 BDH2_HUMAN T 239 ENSP00000296424:I239T ENSP00000296424:I239T I - 2 0 BDH2 104220330 1.000000 0.71417 0.998000 0.56505 0.995000 0.86356 7.861000 0.87004 2.130000 0.65690 0.477000 0.44152 ATT TCGA-US-A774-01A-21D-A32N-08 BDH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157159.2 0 0 0 4 263 0 31 1 9.010234e-01 14 265 0 31 2 0 0 0 0 0 2 1 0.890188 4 262 0 31 2 0 0 0 0 31 2 -5.554130 1 1 0 0 1 1 2 3 2.026388 0 0.100000 2 0.111550 0.380000 0.120000 1.000000 0.290000 0.482223 0.380000 0 2.200000e-01 1 RRH 10692 broad.mit.edu 37 4 110756591 110756591 + Nonsense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:110756591C>T ENST00000317735.4 + 3 401 c.367C>T c.(367-369)Cga>Tga p.R123* NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 12 Hepatocellular(203;0.217) GGCTGTGGACCGATACCTGAC 0.393000 0 SO:0001587 stop_gained ENST00000317735.4 0 1 hg19 CCDS3687.1 . . . . . . . . . . C 34 5.341306 0.95783 . . ENSG00000180245 ENST00000317735 . . . 5.88 5.02 0.67125 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 16.1711 0.81817 0.1343:0.8657:0.0:0.0 . . . . X 123 . ENSP00000314992:R123X R + 1 2 RRH 110976040 0.947000 0.32204 0.992000 0.48379 0.597000 0.36814 1.539000 0.36104 1.419000 0.47118 0.655000 0.94253 CGA TCGA-US-A774-01A-21D-A32N-08 RRH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255066.1 1 0 0 26 309 0 71 0 0 0 0 71 2 0 0 0 0 0 2 1 1.000000 26 303 0 69 2 0 0 0 0 71 2 -2.619821 1 1 121412 6 40 1 1 2 3 2.026388 0 0.100000 2 0.111550 0.990000 0.990000 1.000000 1.000000 0.999255 0.990000 1 9.900000e-01 1 QDPR 5860 broad.mit.edu 37 4 17493886 17493886 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:17493886G>A ENST00000281243.5 - 5 693 c.514C>T c.(514-516)Ccg>Tcg p.P172S QDPR_ENST00000428702.2_Missense_Mutation_p.P141S|QDPR_ENST00000513615.1_Intron|QDPR_ENST00000508623.1_Intron NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 13 GCCCCGGGCGGCATGCCGCTG 0.642000 0 SO:0001583 missense ENST00000281243.5 0 1 hg19 CCDS3421.1 . . . . . . . . . . G 21.5 4.156614 0.78114 . . ENSG00000151552 ENST00000281243;ENST00000428702 D;D 0.94457 -3.43;-3.43 5.26 5.26 0.73747 NAD(P)-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.97707 0.9248 M 0.89968 3.075 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.76071 0.987;0.975 D 0.98210 1.0472 10 0.56958 D 0.05 -8.7527 17.6482 0.88154 0.0:0.0:1.0:0.0 . 141;172 B3KW71;P09417 .;DHPR_HUMAN S 172;141 ENSP00000281243:P172S;ENSP00000390944:P141S ENSP00000281243:P172S P - 1 0 QDPR 17102984 1.000000 0.71417 0.997000 0.53966 0.399000 0.30720 8.814000 0.91968 2.448000 0.82819 0.557000 0.71058 CCG TCGA-US-A774-01A-21D-A32N-08 QDPR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250372.1 0 0 0 5 340 0 66 0 4.005050e-01 0 82 0 66 2 0 0 0 0 0 2 1 0.935062 5 334 0 59 2 0 0 0 0 66 2 -3.055119 1 1 0 0 1 0 0 0 1.913273 0 0.100000 2 0.052632 0.280000 0.110000 0.570000 0.260000 0.311395 0.280000 0 1.800000e-01 4.300000e-01 UGT2B28 54490 broad.mit.edu 37 4 70146857 70146857 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:70146857C>T ENST00000335568.5 + 1 641 c.639C>T c.(637-639)aaC>aaT p.N213N UGT2B28_ENST00000511240.1_Silent_p.N213N NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 31 GGGTAAAAAACATGATCTATG 0.348000 0 SO:0001819 synonymous_variant ENST00000335568.5 0 1 hg19 CCDS3528.1 TCGA-US-A774-01A-21D-A32N-08 UGT2B28-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251557.2 0 0 0 7 297 1 49 0 0 0 1 49 2 0 0 0 0 0 2 0 0.011208 7 292 1 49 19 0 0 0 1 49 2 -3.536422 1 1 117472 45 45 1 1 2 3 2.026388 0 0.100000 2 0.111550 0.540000 0.220000 1.000000 0.470000 0.604138 0.540000 0 3.500000e-01 1 UGT2B28 54490 broad.mit.edu 37 4 70146870 70146870 + Missense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:70146870C>A ENST00000335568.5 + 1 654 c.652C>A c.(652-654)Ctt>Att p.L218I UGT2B28_ENST00000511240.1_Missense_Mutation_p.L218I NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 31 GATCTATGTGCTTTATTTTGA 0.348000 0 SO:0001583 missense ENST00000335568.5 0 1 hg19 CCDS3528.1 . . . . . . . . . . - 5.407 0.260353 0.10239 . . ENSG00000135226 ENST00000335568;ENST00000511240 T;T 0.72505 -0.66;-0.66 2.18 0.143 0.14820 . 0.335796 0.24254 U 0.040145 T 0.62332 0.2419 L 0.56769 1.78 0.09310 N 1 B;B 0.24368 0.102;0.031 B;B 0.32724 0.113;0.151 T 0.52946 -0.8507 10 0.36615 T 0.2 . 5.4611 0.16617 0.0:0.5448:0.0:0.4552 . 218;218 Q9BY64-2;Q9BY64 .;UDB28_HUMAN I 218 ENSP00000334276:L218I;ENSP00000427399:L218I ENSP00000334276:L218I L + 1 0 UGT2B28 70181459 0.000000 0.05858 0.029000 0.17559 0.094000 0.18550 -1.487000 0.02310 -0.148000 0.11234 0.184000 0.17185 CTT TCGA-US-A774-01A-21D-A32N-08 UGT2B28-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251557.2 0 0 0 5 303 1 50 0 0 0 1 50 2 0 0 0 0 0 2 0 0.002303 3 298 1 50 19 0 0 0 1 50 2 -4.316248 1 0 117424 3 31 1 1 2 3 2.026388 0 0.100000 2 0.111550 0.400000 0.140000 1.000000 0.310000 0.495836 0.400000 0 2.400000e-01 1 TADA2B 93624 broad.mit.edu 37 4 7056454 7056454 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:7056454G>A ENST00000310074.7 + 2 1125 c.936G>A c.(934-936)cgG>cgA p.R312R TADA2B_ENST00000515646.1_Silent_p.R220R|TADA2B_ENST00000512388.1_Silent_p.R237R NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B p.R312R(1) 18 AGGCAGCGCGGCATAAACGGG 0.557000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000310074.7 0 1 hg19 CCDS47007.1 TCGA-US-A774-01A-21D-A32N-08 TADA2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358687.2 0 0 0 5 318 0 49 0 3.130629e-01 0 62 0 49 2 0 0 0 0 0 2 1 0.935951 5 314 0 49 2 0 0 0 0 49 2 -2.822129 1 1 0 0 1 0 0 0 1.913273 0 0.100000 2 0.052632 0.300000 0.110000 0.610000 0.280000 0.331177 0.300000 0 1.900000e-01 4.500000e-01 PCDHGB4 8641 broad.mit.edu 37 5 140768992 140768992 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:140768992C>T ENST00000519479.1 + 1 1541 c.1541C>T c.(1540-1542)gCg>gTg p.A514V PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGTGTTCGCGCAGCGCGCC 0.667000 0 SO:0001583 missense ENST00000519479.1 0 1 hg19 CCDS54928.1 . . . . . . . . . . . 35 5.443208 0.96187 . . ENSG00000253953 ENST00000519479 T 0.43294 0.95 4.95 4.95 0.65309 Cadherin (5);Cadherin-like (1); . . . . T 0.54498 0.1862 L 0.31578 0.945 0.38208 D 0.940379 D;D 0.89917 0.994;1.0 P;D 0.79108 0.89;0.992 T 0.62364 -0.6870 9 0.87932 D 0 . 18.196 0.89822 0.0:1.0:0.0:0.0 . 514;514 Q9UN71-2;Q9UN71 .;PCDGG_HUMAN V 514 ENSP00000428288:A514V ENSP00000428288:A514V A + 2 0 PCDHGB4 140749176 0.314000 0.24563 1.000000 0.80357 0.974000 0.67602 1.731000 0.38135 2.446000 0.82766 0.563000 0.77884 GCG TCGA-US-A774-01A-21D-A32N-08 PCDHGB4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374745.1 0 0 0 13 491 0 102 0 6.567694e-02 0 15 0 102 2 0 0 0 0 0 2 1 0.999485 13 482 0 102 2 0 0 0 0 102 2 -11.397640 1 1 0 0 1 0 1 1 1.998511 0 0.100000 2 0.094112 0.520000 0.290000 0.820000 0.510000 0.539071 0.520000 0 3.900000e-01 6.700000e-01 PCDHGA10 56106 broad.mit.edu 37 5 140792948 140792948 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:140792948G>A ENST00000398610.2 + 1 206 c.206G>A c.(205-207)cGc>cAc p.R69H PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGAGTCCGCATAGTCTCC 0.607000 0 SO:0001583 missense ENST00000398610.2 0 1 hg19 CCDS47292.1 . . . . . . . . . . g 17.12 3.308170 0.60305 . . ENSG00000253846 ENST00000398610 T 0.38240 1.15 5.62 5.62 0.85841 Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1); . . . . T 0.54271 0.1848 M 0.93106 3.38 0.27629 N 0.9481 P;P 0.50710 0.923;0.938 B;P 0.47981 0.427;0.563 T 0.62048 -0.6936 9 0.48119 T 0.1 . 9.8976 0.41329 0.1519:0.0:0.8481:0.0 . 69;69 Q9Y5H3-2;Q9Y5H3 .;PCDGA_HUMAN H 69 ENSP00000381611:R69H ENSP00000381611:R69H R + 2 0 PCDHGA10 140773132 1.000000 0.71417 1.000000 0.80357 0.865000 0.49528 5.477000 0.66799 2.639000 0.89480 0.557000 0.71058 CGC TCGA-US-A774-01A-21D-A32N-08 PCDHGA10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374747.1 0 0 0 6 731 0 147 0 1.487040e-03 0 6 0 147 2 0 0 0 0 0 2 1 0.964470 6 727 0 145 2 0 0 0 0 147 2 -2.107876 0 1 0 0 1 0 1 1 1.998511 0 0.100000 2 0.094112 0.170000 0.060000 0.330000 0.160000 0.185758 0.170000 0 1.100000e-01 2.500000e-01 SPEF2 79925 broad.mit.edu 37 5 35793392 35793392 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:35793392G>A ENST00000356031.3 + 32 4840 c.4686G>A c.(4684-4686)aaG>aaA p.K1562K SPEF2_ENST00000303129.4_Silent_p.K359K|SPEF2_ENST00000440995.2_Silent_p.K1557K|CTD-2113L7.1_ENST00000510433.1_RNA NM_024867.3 NP_079143.3 Q9C093 SPEF2_HUMAN sperm flagellar 2 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAAGTTCAAGGCTGTGGATA 0.507000 0 SO:0001819 synonymous_variant ENST00000356031.3 0 1 hg19 CCDS43309.1 TCGA-US-A774-01A-21D-A32N-08 SPEF2-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367199.1 0 0 0 8 316 0 56 0 8.442618e-04 0 2 0 56 2 0 0 0 0 0 2 1 0.989191 8 313 0 55 2 0 0 0 0 56 2 -3.247183 1 1 0 0 1 0 1 1 1.986159 0 0.100000 2 0.091368 0.500000 0.230000 0.880000 0.480000 0.529154 0.500000 0 3.500000e-01 6.900000e-01 ZCCHC9 84240 broad.mit.edu 37 5 80607084 80607084 + Missense_Mutation SNP A A C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:80607084A>C ENST00000254037.2 + 4 3838 c.683A>C c.(682-684)gAa>gCa p.E228A ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E228A|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E228A|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E228A Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) GATTGCCCTGAAAGTCAGAAT 0.413000 0 SO:0001583 missense ENST00000254037.2 0 1 hg19 CCDS4054.1 . . . . . . . . . . A 20.6 4.016841 0.75161 . . ENSG00000131732 ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268 T;T;T;T 0.48836 0.8;0.8;0.8;0.8 5.32 5.32 0.75619 Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2); 0.149315 0.64402 D 0.000016 T 0.57636 0.2067 M 0.76838 2.35 0.58432 D 0.99999 B 0.34103 0.437 B 0.41666 0.363 T 0.62129 -0.6919 10 0.56958 D 0.05 -18.5656 15.2491 0.73529 1.0:0.0:0.0:0.0 . 228 Q8N567 ZCHC9_HUMAN A 228 ENSP00000254037:E228A;ENSP00000385047:E228A;ENSP00000369546:E228A;ENSP00000412637:E228A ENSP00000254037:E228A E + 2 0 ZCCHC9 80642840 1.000000 0.71417 0.020000 0.16555 0.983000 0.72400 5.943000 0.70211 2.153000 0.67306 0.528000 0.53228 GAA TCGA-US-A774-01A-21D-A32N-08 ZCCHC9-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239213.1 0 0 0 6 1039 0 155 0 8.495965e-02 0 70 0 155 2 0 0 0 0 0 2 1 0.964475 6 1034 0 152 2 0 0 0 0 155 2 -4.196290 1 0 0 0 1 0 1 1 1.998511 0 0.100000 2 0.094112 0.120000 0.040000 0.240000 0.110000 0.131621 0.120000 0 7.000000e-02 1.800000e-01 NR2F1 7025 broad.mit.edu 37 5 92929289 92929289 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:92929289C>T ENST00000327111.3 + 3 2700 c.1013C>T c.(1012-1014)gCg>gTg p.A338V NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) CTGTCGGATGCGGCCCACATC 0.592000 0 SO:0001583 missense ENST00000327111.3 0 1 hg19 CCDS4068.1 . . . . . . . . . . C 8.028 0.761144 0.15914 . . ENSG00000175745 ENST00000327111 D 0.96365 -3.99 6.17 6.17 0.99709 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.360994 0.30219 N 0.010135 D 0.90013 0.6882 N 0.02842 -0.48 0.80722 D 1 B 0.11235 0.004 B 0.10450 0.005 D 0.84686 0.0720 10 0.16420 T 0.52 . 20.4898 0.99202 0.0:1.0:0.0:0.0 . 338 P10589 COT1_HUMAN V 338 ENSP00000325819:A338V ENSP00000325819:A338V A + 2 0 NR2F1 92955045 0.951000 0.32395 1.000000 0.80357 0.986000 0.74619 2.198000 0.42705 2.941000 0.99782 0.655000 0.94253 GCG TCGA-US-A774-01A-21D-A32N-08 NR2F1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239293.2 0 0 0 6 683 1 106 0 3.761570e-03 0 54 1 106 4 0 0 0 0 0 2 0 0.002372 6 672 1 104 21 0 0 0 1 106 2 -2.123779 0 1 0 0 1 0 1 1 1.998511 0 0.100000 2 0.094112 0.180000 0.070000 0.350000 0.170000 0.198479 0.180000 0 1.200000e-01 2.700000e-01 HIST1H3I 8354 broad.mit.edu 37 6 27839741 27839741 + Missense_Mutation SNP A A C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:27839741A>C ENST00000328488.2 - 1 358 c.353T>G c.(352-354)gTc>gGc p.V118G NM_003533.2 NP_003524.1 P68431 H31_HUMAN histone cluster 1, H3i 11 CATAATAGTGACGCGTTTGGC 0.567000 0 SO:0001583 missense ENST00000328488.2 1 1 hg19 CCDS4636.1 . . . . . . . . . . A 15.14 2.744292 0.49151 . . ENSG00000182572 ENST00000328488 T 0.50277 0.75 4.12 4.12 0.48240 . . . . . T 0.52885 0.1762 . . . 0.80722 D 1 . . . . . . T 0.59910 -0.7365 6 0.87932 D 0 . 13.3331 0.60500 1.0:0.0:0.0:0.0 . . . . G 118 ENSP00000329554:V118G ENSP00000329554:V118G V - 2 0 HIST1H3I 27947720 1.000000 0.71417 1.000000 0.80357 0.350000 0.29205 8.793000 0.91862 2.086000 0.62901 0.528000 0.53228 GTC TCGA-US-A774-01A-21D-A32N-08 HIST1H3I-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043452.1 1 0 0 47 790 0 178 0 0 0 0 178 2 0 0 0 0 0 2 1 1.000000 47 781 0 177 2 0 0 0 0 178 2 -20.000000 1 1 0 0 1 1 2 3 2.014510 0 0.100000 2 0.108911 0.990000 0.850000 1.000000 1.000000 0.987875 0.990000 1 9.900000e-01 1 TAP1 6890 broad.mit.edu 37 6 32820252 32820252 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:32820252C>T ENST00000354258.4 - 2 967 c.806G>A c.(805-807)gGc>gAc p.G269D PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.G8D NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 21 Lapatinib(DB01259) AGTGAGGCGGCCCGTAAAGAA 0.507000 0 SO:0001583 missense ENST00000354258.4 0 1 hg19 CCDS4758.1 . . . . . . . . . . C 21.8 4.195941 0.78902 . . ENSG00000168394 ENST00000354258;ENST00000425148 D;D 0.91407 -2.84;-2.84 4.78 4.78 0.61160 ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1); 0.870577 0.09721 N 0.764435 D 0.95592 0.8567 M 0.87097 2.86 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.94207 0.7455 10 0.87932 D 0 -17.1129 15.3702 0.74557 0.0:1.0:0.0:0.0 . 269 Q03518 TAP1_HUMAN D 269;8 ENSP00000346206:G269D;ENSP00000401919:G8D ENSP00000346206:G269D G - 2 0 TAP1 32928230 1.000000 0.71417 0.830000 0.32933 0.412000 0.31113 6.583000 0.74053 2.470000 0.83445 0.551000 0.68910 GGC TCGA-US-A774-01A-21D-A32N-08 TAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076087.2 0 0 0 6 329 0 56 0 9.672154e-01 0 341 0 56 2 0 0 0 0 0 2 1 0.962637 6 321 0 56 2 0 0 0 0 56 2 -6.106004 1 0 0 0 1 1 5 6 1.993923 0 0.100000 2 0.250000 0.460000 0.190000 0.880000 0.430000 0.492787 0.460000 0 3.000000e-01 6.700000e-01 MUC17 140453 broad.mit.edu 37 7 100683951 100683951 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:100683951C>T ENST00000306151.4 + 3 9318 c.9254C>T c.(9253-9255)tCa>tTa p.S3085L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated p.S3085*(1) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGTCAGTTCATCTCCTACA 0.522000 1 Substitution - Nonsense(1) SO:0001583 missense ENST00000306151.4 1 1 hg19 CCDS34711.1 . . . . . . . . . . c 8.482 0.859960 0.17178 . . ENSG00000169876 ENST00000306151 T 0.02301 4.35 1.18 1.18 0.20946 . . . . . T 0.02848 0.0085 L 0.29908 0.895 0.09310 N 1 P 0.48350 0.909 P 0.48704 0.587 T 0.51973 -0.8637 9 0.25106 T 0.35 . 8.4028 0.32597 0.0:1.0:0.0:0.0 . 3085 Q685J3 MUC17_HUMAN L 3085 ENSP00000302716:S3085L ENSP00000302716:S3085L S + 2 0 MUC17 100470671 0.000000 0.05858 0.001000 0.08648 0.005000 0.04900 0.146000 0.16180 0.986000 0.38683 0.121000 0.15741 TCA TCGA-US-A774-01A-21D-A32N-08 MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347161.1 1 0 1 70 1296 0 268 1 3.928003e-01 14 12 0 268 2 0 0 0 0 0 2 1 1.000000 69 1281 0 266 2 0 0 0 0 268 2 -7.734039 1 1 121404 6 43 1 1 2 3 2.041249 0 0.100000 2 0.114609 0.990000 0.820000 1.000000 1.000000 0.978708 0.990000 1 9.400000e-01 1 RELN 5649 broad.mit.edu 37 7 103629780 103629780 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:103629780C>T ENST00000428762.1 - 1 183 c.24G>A c.(22-24)cgG>cgA p.R8R RELN_ENST00000343529.5_Silent_p.R8R|RELN_ENST00000424685.2_Silent_p.R8R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 227 GGAAAGTCTGCCGGGCCCAGC 0.716000 NSCLC(146;835 1944 15585 22231 52158) 0 SO:0001819 synonymous_variant ENST00000428762.1 0 1 hg19 CCDS47680.1 TCGA-US-A774-01A-21D-A32N-08 RELN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000348148.1 0 0 0 4 114 0 35 0 0 0 0 35 2 0 0 0 0 1 2 1 0.883367 4 110 0 33 2 0 0 0 0 35 2 -7.441180 1 1 0 0 1 1 2 3 2.041249 0 0.100000 2 0.114609 0.860000 0.270000 1.000000 1.000000 0.786009 0.860000 1 4.900000e-01 1 ZNF277 11179 broad.mit.edu 37 7 111926929 111926929 + Splice_Site SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:111926929C>T ENST00000361822.3 + 2 222 c.93C>T c.(91-93)gaC>gaT p.D31D RN7SKP187_ENST00000365536.1_RNA|ZNF277_ENST00000450657.1_Splice_Site_p.D31D|ZNF277_ENST00000421043.1_Splice_Site_p.D31D NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 15 CTATTCCAGACAGTAAGGATT 0.408000 0 SO:0001630 splice_region_variant ENST00000361822.3 0 1 hg19 CCDS5755.2 TCGA-US-A774-01A-21D-A32N-08 ZNF277-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316843.2 0 0 0 4 109 0 28 0 5.310108e-01 0 44 0 28 2 0 0 0 0 0 2 0 0.871241 0 105 0 27 2 0 0 0 0 28 2 -7.115757 1 0 0 0 1 1 2 3 2.041249 0 0.100000 2 0.114609 0.890000 0.280000 1.000000 1.000000 0.801062 0.890000 1 5.100000e-01 1 EGR3 1960 broad.mit.edu 37 8 22548167 22548167 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:22548167G>A ENST00000317216.2 - 2 1340 c.983C>T c.(982-984)aCg>aTg p.T328M EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.T290M|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA NM_001199881.1|NM_004430.2 NP_001186810.1|NP_004421.2 Q06889 EGR3_HUMAN early growth response 3 10 Prostate(55;0.0421)|Breast(100;0.102) CTTCTCGCCCGTATGAGTGCG 0.632000 0 SO:0001583 missense ENST00000317216.2 0 1 hg19 CCDS6033.1 . . . . . . . . . . G 21.1 4.098407 0.76870 . . ENSG00000179388 ENST00000317216;ENST00000522910;ENST00000435199 T;T 0.26373 1.74;1.74 5.62 5.62 0.85841 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.54191 0.1843 M 0.77313 2.365 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.57242 -0.7845 10 0.87932 D 0 -20.0694 17.1549 0.86788 0.0:0.0:1.0:0.0 . 290;328 E7EW38;Q06889 .;EGR3_HUMAN M 328;290;169 ENSP00000318057:T328M;ENSP00000430310:T290M ENSP00000318057:T328M T - 2 0 EGR3 22604112 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 9.863000 0.99569 2.643000 0.89663 0.655000 0.94253 ACG TCGA-US-A774-01A-21D-A32N-08 EGR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000215098.1 0 0 0 6 655 0 115 0 5.326939e-03 0 10 0 115 2 0 0 0 0 0 2 1 0.964427 7 650 0 115 2 0 0 0 0 115 2 -2.632552 1 1 0 0 1 1 2 3 2.031014 0 0.100000 2 0.112426 0.220000 0.080000 1.000000 0.180000 0.364217 0.220000 0 1.300000e-01 1 ST18 9705 broad.mit.edu 37 8 53028835 53028835 + Splice_Site SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:53028835C>A ENST00000276480.7 - 25 3686 c.3003G>T c.(3001-3003)atG>atT p.M1001I NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18, zinc finger 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTGAACTTACCATCTGTGGAA 0.478000 0 SO:0001630 splice_region_variant ENST00000276480.7 0 1 hg19 CCDS6149.1 . . . . . . . . . . C 34 5.363299 0.95877 . . ENSG00000147488 ENST00000276480 T 0.49139 0.79 5.81 5.81 0.92471 . 0.000000 0.85682 D 0.000000 T 0.69033 0.3066 M 0.68317 2.08 0.80722 D 1 D 0.64830 0.994 D 0.72338 0.977 T 0.67995 -0.5526 10 0.54805 T 0.06 -22.9673 20.0735 0.97734 0.0:1.0:0.0:0.0 . 1001 O60284 ST18_HUMAN I 1001 ENSP00000276480:M1001I ENSP00000276480:M1001I M - 3 0 ST18 53191388 1.000000 0.71417 1.000000 0.80357 0.898000 0.52572 7.764000 0.85297 2.745000 0.94114 0.655000 0.94253 ATG TCGA-US-A774-01A-21D-A32N-08 ST18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377867.1 0 0 0 13 398 0 75 0 1.222280e-03 0 2 0 75 2 0 0 0 0 0 2 1 0.999535 12 397 0 74 2 0 0 0 0 75 2 -2.591336 1 1 0 0 1 1 2 3 2.031014 0 0.100000 2 0.112426 0.700000 0.370000 1.000000 1.000000 0.733840 0.700000 0 5.100000e-01 1 PTGES2 80142 broad.mit.edu 37 9 130885345 130885345 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:130885345C>T ENST00000338961.6 - 5 1499 c.755G>A c.(754-756)cGc>cAc p.R252H PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_Missense_Mutation_p.R61H NM_001256335.1|NM_025072.6 NP_001243264.1|NP_079348.1 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 4 GGTGGGCGTGCGGTACACATT 0.657000 0 SO:0001583 missense ENST00000338961.6 0 1 hg19 CCDS6891.1 . . . . . . . . . . C 27.5 4.837248 0.91117 0.0 1.16E-4 ENSG00000148334 ENST00000338961;ENST00000277462;ENST00000449878 T;T;T 0.44482 0.92;0.92;0.92 5.42 3.52 0.40303 Glutathione S-transferase, C-terminal-like (1); 0.000000 0.85682 D 0.000000 T 0.65260 0.2674 M 0.88906 2.99 0.80722 D 1 D 0.89917 1.0 D 0.69654 0.965 T 0.69877 -0.5026 10 0.62326 D 0.03 -7.5349 9.8637 0.41129 0.1372:0.789:0.0:0.0738 . 252 Q9H7Z7 PGES2_HUMAN H 252;61;217 ENSP00000345341:R252H;ENSP00000277462:R61H;ENSP00000411378:R217H ENSP00000277462:R61H R - 2 0 PTGES2 129925166 1.000000 0.71417 0.999000 0.59377 0.860000 0.49131 5.787000 0.69013 1.262000 0.44165 0.561000 0.74099 CGC TCGA-US-A774-01A-21D-A32N-08 PTGES2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054339.1 0 0 0 5 354 0 72 0 8.398398e-01 0 239 0 72 2 0 0 0 0 0 2 1 0.935172 5 350 0 72 2 0 0 0 0 72 2 -4.475698 1 1 121408 2 32 1 1 2 3 2.017367 0 0.100000 2 0.109352 0.330000 0.120000 1.000000 0.280000 0.434120 0.330000 0 2.000000e-01 8.100000e-01 TAF1L 138474 broad.mit.edu 37 9 32632378 32632378 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:32632378G>A ENST00000242310.4 - 1 3289 c.3200C>T c.(3199-3201)gCc>gTc p.A1067V RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like p.A1067V(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) TGATCCACGGGCAAATTTACT 0.468000 1 Substitution - Missense(1) SO:0001583 missense ENST00000242310.4 0 1 hg19 CCDS35003.1 . . . . . . . . . . G 26.6 4.750747 0.89753 . . ENSG00000122728 ENST00000242310 T 0.18810 2.19 0.479 0.479 0.16796 . 0.097880 0.64402 D 0.000001 T 0.41858 0.1177 M 0.82823 2.61 0.58432 D 0.999997 D 0.76494 0.999 D 0.76071 0.987 T 0.32241 -0.9914 10 0.72032 D 0.01 . 6.6915 0.23174 2.0E-4:0.0:0.9998:0.0 . 1067 Q8IZX4 TAF1L_HUMAN V 1067 ENSP00000418379:A1067V ENSP00000418379:A1067V A - 2 0 TAF1L 32622378 1.000000 0.71417 0.997000 0.53966 0.891000 0.51852 5.867000 0.69597 0.507000 0.28148 0.195000 0.17529 GCC TCGA-US-A774-01A-21D-A32N-08 TAF1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052012.2 0 0 0 8 735 0 147 0 0 0 0 147 2 0 0 0 0 0 2 1 0.987691 8 709 0 146 2 0 0 0 0 147 2 -1.947784 0 1 0 0 1 1 2 3 2.014929 0 0.100000 2 0.108911 0.240000 0.100000 1.000000 0.220000 0.356355 0.240000 0 1.600000e-01 4.700000e-01 GPRASP2 114928 broad.mit.edu 37 X 101972217 101972217 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:101972217C>T ENST00000535209.1 + 4 3251 c.2420C>T c.(2419-2421)cCg>cTg p.P807L GPRASP2_ENST00000332262.5_Missense_Mutation_p.P807L|GPRASP2_ENST00000543253.1_Missense_Mutation_p.P807L Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting protein 2 30 AGTCTTGAGCCGCTTATTTCT 0.318000 0 SO:0001583 missense ENST00000535209.1 1 1 hg19 CCDS14501.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 C 9.349 1.065104 0.20067 . . ENSG00000158301 ENST00000543253;ENST00000535209;ENST00000332262 T;T;T 0.28255 1.62;1.62;1.62 4.04 3.16 0.36331 Armadillo-type fold (1); 0.000000 0.41712 D 0.000830 T 0.48677 0.1513 M 0.65975 2.015 0.18873 N 0.999986 D 0.89917 1.0 D 0.83275 0.996 T 0.27054 -1.0085 10 0.72032 D 0.01 -5.9426 8.0819 0.30750 0.2402:0.7598:0.0:0.0 . 807 Q96D09 GASP2_HUMAN L 807 ENSP00000437872:P807L;ENSP00000437394:P807L;ENSP00000339057:P807L ENSP00000339057:P807L P + 2 0 GPRASP2 101858873 0.860000 0.29831 0.078000 0.20375 0.454000 0.32378 2.912000 0.48782 1.042000 0.40150 0.513000 0.50165 CCG TCGA-US-A774-01A-21D-A32N-08 GPRASP2-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057626.2 0 0 0 23 818 0 135 0 8.468919e-02 0 17 0 135 2 0 0 0 0 0 2 1 0.999999 23 806 0 135 2 0 0 0 0 135 2 -2.479206 0 1 115108 8 42 1 0 1 1 0.100000 2 0.100000 0.540000 0.350000 0.790000 0.540000 0.563274 0.540000 0 4.400000e-01 6.700000e-01 FAM127B 26071 broad.mit.edu 37 X 134186027 134186027 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:134186027C>T ENST00000370775.2 - 1 178 c.112G>A c.(112-114)Gac>Aac p.D38N FAM127B_ENST00000520964.1_5'UTR NM_001078172.1 NP_001071640.1 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 14 Acute lymphoblastic leukemia(192;0.000127) GGGAGTCGGTCGGTATCTCCG 0.637000 0 SO:0001583 missense ENST00000370775.2 0 1 hg19 CCDS43998.1 . . . . . . . . . . C 13.22 2.171400 0.38315 . . ENSG00000203950 ENST00000370775 T 0.31247 1.5 2.38 2.38 0.29361 . 0.509400 0.14388 U 0.322689 T 0.41305 0.1153 L 0.50333 1.59 0.27449 N 0.953491 D;D 0.76494 0.999;0.993 D;P 0.74023 0.982;0.619 T 0.18461 -1.0336 10 0.17369 T 0.5 . 7.511 0.27573 0.0:1.0:0.0:0.0 . 36;38 Q6IPB9;Q9BWD3 .;F127B_HUMAN N 38 ENSP00000375267:D38N ENSP00000375267:D38N D - 1 0 FAM127B 134013693 1.000000 0.71417 0.995000 0.50966 0.112000 0.19704 2.055000 0.41345 1.470000 0.48102 0.292000 0.19580 GAC TCGA-US-A774-01A-21D-A32N-08 FAM127B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058393.2 0 0 0 15 725 0 126 0 8.836530e-01 0 185 0 126 2 0 0 0 0 0 2 1 0.999851 15 711 0 125 2 0 0 0 0 126 2 -2.872008 1 1 121104 3 38 1 0 1 1 0.100000 2 0.100000 0.410000 0.230000 0.640000 0.400000 0.426017 0.410000 0 3.100000e-01 5.300000e-01 L1CAM 3897 broad.mit.edu 37 X 153134383 153134383 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:153134383G>A ENST00000370060.1 - 12 1481 c.1292C>T c.(1291-1293)gCg>gTg p.A431V L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V 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) CTGATTGTCCGCAGTCAGGAT 0.617000 0 SO:0001583 missense ENST00000370060.1 0 1 hg19 CCDS14733.1 . . . . . . . . . . G 7.720 0.696948 0.15106 . . ENSG00000198910 ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699 T;T;T;T;T;T;T 0.60424 0.19;0.2;0.19;0.21;0.23;0.23;0.19 5.53 0.212 0.15240 Immunoglobulin-like (1); 1.465370 0.04158 N 0.322492 T 0.44540 0.1298 L 0.29908 0.895 0.09310 N 1 B;B;B 0.20164 0.034;0.017;0.042 B;B;B 0.16722 0.009;0.006;0.016 T 0.34477 -0.9827 10 0.62326 D 0.03 . 4.1815 0.10378 0.0831:0.2626:0.4422:0.212 . 426;431;431 G3XAF4;P32004-2;P32004 .;.;L1CAM_HUMAN V 431;433;431;433;426;426;431 ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V ENSP00000355380:A431V A - 2 0 L1CAM 152787577 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 0.054000 0.14205 -0.087000 0.12528 -0.347000 0.07816 GCG TCGA-US-A774-01A-21D-A32N-08 L1CAM-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000061094.2 0 0 0 6 494 0 97 0 3.171730e-03 0 6 0 97 2 0 5.411525e-01 0 373 1 450 5 1 0.964067 6 489 0 96 2 0 0 0 0 97 2 -2.239909 0 1 121410 2 34 1 0 1 1 0.100000 2 0.100000 0.250000 0.100000 0.490000 0.240000 0.273860 0.250000 0 1.600000e-01 3.700000e-01