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 115374049 115374049 + Missense_Mutation SNP A A G TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr10:115374049A>G ENST00000359988.3 - 29 3437 c.3193T>C c.(3193-3195)Tac>Cac p.Y1065H NRAP_ENST00000369360.3_Missense_Mutation_p.Y1038H|NRAP_ENST00000369358.4_Missense_Mutation_p.Y1073H|NRAP_ENST00000360478.3_Missense_Mutation_p.Y1030H 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) GCCTCTTTGTATTTGTACTAA 0.453000 0 SO:0001583 missense ENST00000359988.3 0 1 hg19 CCDS7579.1 . . . . . . . . . . A 22.500000 4.298801 0.810250 . . ENSG00000197893 ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478 D;D;D;D 0.99958 -9.03;-9.03;-9.03;-9.03 5.650000 5.650000 0.869990 . 0.000000 0.85682 D 0.000000 D 0.99955 0.9981 M 0.89601 3.045 0.485710 D 0.999672 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;0.999 D 0.95382 0.8474 10 0.87932 D 0 . 15.876100 0.791620 1.0:0.0:0.0:0.0 . 1065;1030;1065 A0AVL2;Q86VF7-4;Q86VF7 .;.;NRAP_HUMAN H 1073;1038;1065;1030 ENSP00000358365:Y1073H;ENSP00000358367:Y1038H;ENSP00000353078:Y1065H;ENSP00000353666:Y1030H ENSP00000353078:Y1065H Y - 1 0 NRAP 115364039 1 0.714170 1 0.803570 0.999000 0.989320 8.290000 0.899250 2.153000 0.673060 0.528000 0.532280 TAC TCGA-IB-7897-01A-21D-2201-08 NRAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050425.2 0 0 0 12 751 0 113 0 0 0 0 113 2 0 0 0 0 0 2 1 9.990121e-01 12 737 0 114 2 0 0 0 0 113 2 -3.225686 1 1 0 0 1 0 1 1 1.996160 0 0.160000 2 0.155949 0.190000 0.100000 0.330000 0.200000 0.209900 0.190000 0 0.140000 0.260000 TUB 7275 broad.mit.edu 37 11 8123100 8123100 + Silent SNP G G A rs147880022 byFrequency TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr11:8123100G>A ENST00000299506.2 + 12 1604 c.1455G>A c.(1453-1455)ccG>ccA p.P485P TUB_ENST00000305253.4_Silent_p.P540P|TUB_ENST00000534099.1_Silent_p.P491P NM_177972.2 NP_813977.1 P50607 TUB_HUMAN tubby bipartite transcription factor 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) ACAACTACCCGCTGTGTGCAC 0.582000 0 SO:0001819 synonymous_variant ENST00000299506.2 0 1 hg19 CCDS7787.1 TCGA-IB-7897-01A-21D-2201-08 TUB-003 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385823.1 0 0 0 21 725 1 100 0 7.176845e-02 0 15 1 100 2 0 0 0 0 0 2 0 4.178368e-01 20 715 1 100 23 0 0 0 1 100 2 -2.747571 1 1 121412 46 49 1 0 1 1 1.998490 0 0.160000 2 0.156627 0.350000 0.220000 0.510000 0.350000 0.363537 0.350000 0 0.280000 0.440000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f 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 hg19 CCDS8703.1 . . . . . . . . . . C 23.400000 4.409094 0.833400 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.807220 D 1.000000 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 . 18.371900 0.904090 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 0.714170 1 0.803570 0.998000 0.957120 7.743000 0.850200 2.668000 0.907890 0.563000 0.778840 GGT TCGA-IB-7897-01A-21D-2201-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 0 1 173 0 20 1 9.654497e-02 5 37 0 20 2 1 7.486278e-01 8 351 0 255 2 0 0 0 0 0 2 1 9.986617e-01 96 7928 0 20 2 -3.039667 1 1 121404 2 44 1 1 2 3 2.001917 0 0.160000 2 0.163347 0.110000 0.010000 1.000000 0.070000 0.172109 0.110000 0 0.040000 0.250000 AKAP3 10566 broad.mit.edu 37 12 4737445 4737445 + Missense_Mutation SNP C C A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr12:4737445C>A ENST00000545990.2 - 5 1147 c.623G>T c.(622-624)aGt>aTt p.S208I RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S208I NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 51 ATTTGGGGGACTTTGTGATGA 0.488000 0 SO:0001583 missense ENST00000545990.2 0 1 hg19 CCDS8531.1 . . . . . . . . . . C 4.255000 0.046299 0.082430 . . ENSG00000111254 ENST00000228850;ENST00000545990 T;T 0.10668 2.85;2.85 4.610000 -1.240000 0.094350 A-kinase anchor 110kDa, C-terminal (1); 0.765712 0.12130 N 0.496807 T 0.09335 0.0230 L 0.57536 1.79 0.093100 N 1.000000 B 0.12630 0.006 B 0.12837 0.008 T 0.37663 -0.9696 10 0.87932 D 0 . 1.390100 0.022490 0.303:0.3889:0.1314:0.1767 . 208 O75969 AKAP3_HUMAN I 208 ENSP00000228850:S208I;ENSP00000440994:S208I ENSP00000228850:S208I S - 2 0 AKAP3 4607706 0 0.058580 0 0.037020 0.019000 0.099040 -0.674000 0.052330 -0.341000 0.083760 -0.459000 0.054220 AGT TCGA-IB-7897-01A-21D-2201-08 AKAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398911.2 0 0 0 9 613 0 106 0 3.156426e-02 0 17 0 106 2 0 0 0 0 0 2 1 9.937834e-01 9 603 0 106 2 0 0 0 0 106 2 -6.999037 1 0 0 0 1 1 2 3 2.034411 0 0.160000 2 0.170616 0.200000 0.090000 1.000000 0.180000 0.301733 0.200000 0 0.130000 0.330000 LRP1 4035 broad.mit.edu 37 12 57587450 57587450 + Missense_Mutation SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr12:57587450G>A ENST00000243077.3 + 47 8252 c.7786G>A c.(7786-7788)Gac>Aac p.D2596N MIR1228_ENST00000408438.1_RNA NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 184 Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGATGGCTCTGACGAGATCCC 0.622000 0 SO:0001583 missense ENST00000243077.3 1 1 hg19 CCDS8932.1 . . . . . . . . . . G 14.420000 2.529304 0.449690 . . ENSG00000123384 ENST00000243077 D 0.99214 -5.57 5.010000 4.100000 0.479360 Low-density lipoprotein (LDL) receptor class A, conserved site (1); 0.000000 0.64402 D 0.000001 D 0.99594 0.9853 H 0.97214 3.96 0.807220 D 1.000000 D 0.69078 0.997 D 0.83275 0.996 D 0.97659 1.0159 10 0.59425 D 0.04 . 12.951700 0.584050 0.0821:0.0:0.9179:0.0 . 2596 Q07954 LRP1_HUMAN N 2596 ENSP00000243077:D2596N ENSP00000243077:D2596N D + 1 0 LRP1 55873717 1 0.714170 1.000000e-01 0.211370 0.069000 0.166280 7.767000 0.853310 2.606000 0.881270 0.655000 0.942530 GAC TCGA-IB-7897-01A-21D-2201-08 LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412772.2 0 0 0 13 422 0 56 1 9.998884e-01 3 531 0 56 2 0 0 0 0 0 2 1 9.994651e-01 12 413 0 56 2 0 0 0 0 56 2 -12.209560 1 1 0 0 1 1 2 3 2.048807 0 0.160000 2 0.177760 0.420000 0.220000 1.000000 0.370000 0.517308 0.420000 0 0.300000 1.000000 LTBR 4055 broad.mit.edu 37 12 6494502 6494502 + Missense_Mutation SNP G G T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr12:6494502G>T ENST00000228918.4 + 4 755 c.429G>T c.(427-429)gaG>gaT p.E143D LTBR_ENST00000543190.1_Missense_Mutation_p.E36D|LTBR_ENST00000539925.1_Missense_Mutation_p.E124D|LTBR_ENST00000541102.1_Missense_Mutation_p.E36D NM_002342.2 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 15 CACACTGCGAGCTACTTTCTG 0.607000 0 SO:0001583 missense ENST00000228918.4 0 1 hg19 CCDS8544.1 . . . . . . . . . . G 13.660000 2.303124 0.407950 . . ENSG00000111321 ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000543190;ENST00000541102 T;T;T;T;T 0.73047 0.12;0.12;0.12;-0.71;0.12 4.790000 1.890000 0.256350 TNFR/CD27/30/40/95 cysteine-rich region (1); 0.432883 0.23340 N 0.049255 T 0.78227 0.4250 M 0.69358 2.11 0.093100 N 0.999996 D;D;D 0.76494 0.996;0.993;0.999 D;D;D 0.76071 0.986;0.967;0.987 T 0.66913 -0.5803 9 . . . -1.2798 6.562500 0.224930 0.1755:0.0:0.6788:0.1457 . 124;124;143 F5GXE7;B7Z1D2;P36941 .;.;TNR3_HUMAN D 124;143;36;138;36;36 ENSP00000440875:E124D;ENSP00000228918:E143D;ENSP00000437647:E138D;ENSP00000438955:E36D;ENSP00000438605:E36D . E + 3 2 LTBR 6364763 7.490000e-01 0.283050 7.600000e-02 0.202970 0.307000 0.278230 0.698000 0.255710 -0.127000 0.116610 -1.134000 0.019550 GAG TCGA-IB-7897-01A-21D-2201-08 LTBR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399422.1 0 0 1 6 338 0 45 1 9.671553e-01 44 306 0 45 2 0 0 0 0 0 2 1 9.613008e-01 6 326 0 42 2 0 0 0 0 45 2 -6.478423 1 1 0 0 1 1 2 3 2.034411 0 0.160000 2 0.170616 0.250000 0.090000 1.000000 0.220000 0.346511 0.250000 0 0.160000 0.440000 CHD4 1108 broad.mit.edu 37 12 6686950 6686950 + Splice_Site SNP C C T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr12:6686950C>T ENST00000357008.2 - 37 5525 c.e37+1 CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site|CHD4_ENST00000544040.1_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA NM_001273.2 NP_001264.2 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 p.?(3) 2 CAACCGCTCACCTTAAACCTT 0.463000 Colon(32;586 792 4568 16848 45314) 3 Unknown(3) SO:0001630 splice_region_variant ENST00000357008.2 0 1 hg19 CCDS8552.1 . . . . . . . . . . C 25.200000 4.616076 0.873590 . . ENSG00000111642 ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464 . . . 5.510000 5.510000 0.819320 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . . 19.785900 0.964370 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . CHD4 6557211 1 0.714170 1 0.803570 0.922000 0.554780 7.464000 0.808870 2.746000 0.941840 0.655000 0.942530 . TCGA-IB-7897-01A-21D-2201-08 CHD4-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 0 0 0 11 845 0 122 1 4.209928e-03 2 5 0 122 2 1 8.221828e-01 4 241 0 152 2 1 9.981142e-01 11 826 0 122 2 0 0 0 0 122 2 -7.260967 1 0 0 0 1 1 2 3 2.034411 0 0.160000 2 0.170616 0.170000 0.080000 1.000000 0.170000 0.279661 0.170000 0 0.120000 0.280000 CLEC4A 50856 broad.mit.edu 37 12 8276535 8276535 + Missense_Mutation SNP A A G TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr12:8276535A>G ENST00000229332.5 + 1 308 c.61A>G c.(61-63)Atc>Gtc p.I21V CLEC4A_ENST00000345999.3_Missense_Mutation_p.I21V|CLEC4A_ENST00000352620.3_Missense_Mutation_p.I21V|CLEC4A_ENST00000360500.3_Missense_Mutation_p.I21V NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 11 GTCCTCAGGCATCAACACAGC 0.418000 0 SO:0001583 missense ENST00000229332.5 0 1 hg19 CCDS8590.1 . . . . . . . . . . A 5.547000 0.285885 0.105130 . . ENSG00000111729 ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500;ENST00000546339 T;T;T;T;T 0.44083 5.49;5.5;5.33;5.33;0.93 4.070000 -0.299000 0.128080 . . . . . T 0.26882 0.0658 L 0.43152 1.355 0.093100 N 1.000000 B;B;B;P 0.36990 0.32;0.048;0.32;0.577 B;B;B;B 0.31442 0.058;0.024;0.129;0.13 T 0.11842 -1.0571 9 0.27785 T 0.31 . 5.520600 0.169310 0.5456:0.3515:0.1029:0.0 . 21;21;21;21 Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7 .;.;.;CLC4A_HUMAN V 21;21;21;21;10 ENSP00000229332:I21V;ENSP00000344646:I21V;ENSP00000247243:I21V;ENSP00000353690:I21V;ENSP00000443082:I10V ENSP00000229332:I21V I + 1 0 CLEC4A 8167802 0 0.058580 0 0.037020 0.011000 0.076110 -0.061000 0.116930 -0.051000 0.133340 0.528000 0.532280 ATC TCGA-IB-7897-01A-21D-2201-08 CLEC4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400257.1 0 0 0 8 448 0 58 0 2.581110e-01 0 50 0 58 2 0 0 0 0 0 2 1 9.888124e-01 7 442 0 57 2 0 0 0 0 58 2 -7.503095 1 1 121412 2 35 1 1 2 3 2.034411 0 0.160000 2 0.170616 0.240000 0.100000 1.000000 0.220000 0.340927 0.240000 0 0.160000 0.410000 NALCN 259232 broad.mit.edu 37 13 101755619 101755619 + Silent SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr13:101755619G>A ENST00000251127.6 - 26 3042 c.2961C>T c.(2959-2961)gtC>gtT p.V987V NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGCACCGAAGGACCATTAGAA 0.443000 0 SO:0001819 synonymous_variant ENST00000251127.6 1 1 hg19 CCDS9498.1 TCGA-IB-7897-01A-21D-2201-08 NALCN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045663.2 0 0 0 14 614 0 84 0 1.058279e-01 0 23 0 84 2 0 0 0 0 0 2 1 9.997110e-01 14 599 0 82 2 0 0 0 0 84 2 -3.390712 1 1 0 0 1 0 1 1 1.998708 0 0.160000 2 0.156627 0.280000 0.150000 0.440000 0.270000 0.293889 0.280000 0 0.210000 0.370000 KLHDC4 54758 broad.mit.edu 37 16 87790046 87790046 + Nonsense_Mutation SNP C C A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr16:87790046C>A ENST00000270583.5 - 3 287 c.229G>T c.(229-231)Gag>Tag p.E77* KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Nonsense_Mutation_p.E77* NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 21 AGGATTAACTCATCTTTCTCA 0.438000 0 SO:0001587 stop_gained ENST00000270583.5 0 1 hg19 CCDS10963.1 . . . . . . . . . . C 36.000000 5.966446 0.971560 . . ENSG00000104731 ENST00000270583;ENST00000347925 . . . 5.180000 5.180000 0.714440 . 0.000000 0.85682 D 0.000000 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.30078 T 0.28 -15.5645 15.853900 0.789600 0.0:1.0:0.0:0.0 . . . . X 77 . ENSP00000270583:E77X E - 1 0 KLHDC4 86347547 1 0.714170 9.980000e-01 0.565050 0.925000 0.559040 7.019000 0.764120 2.417000 0.820170 0.655000 0.942530 GAG TCGA-IB-7897-01A-21D-2201-08 KLHDC4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000269109.2 0 0 0 7 316 0 48 0 1.721969e-01 0 30 0 48 2 0 0 0 0 0 2 1 9.802506e-01 7 313 0 48 2 0 0 0 0 48 2 -7.256089 1 1 0 0 1 1 2 3 2.009794 0 0.160000 2 0.165342 0.290000 0.120000 1.000000 0.270000 0.349561 0.290000 0 0.190000 0.450000 KRT26 353288 broad.mit.edu 37 17 38928255 38928255 + Silent SNP C C T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr17:38928255C>T ENST00000335552.4 - 1 159 c.111G>A c.(109-111)tcG>tcA p.S37S NM_181539.4 NP_853517.2 keratin 26 16 Breast(137;0.00526) TTCTTGCTCCCGATCCAACAC 0.557000 0 SO:0001819 synonymous_variant ENST00000335552.4 0 1 hg19 CCDS11374.1 TCGA-IB-7897-01A-21D-2201-08 KRT26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257215.1 0 0 0 15 1181 0 166 0 0 0 0 166 2 0 0 0 0 0 2 1 9.998441e-01 16 1155 0 163 2 0 0 0 0 166 2 -1.774740 0 1 121412 3 40 1 0 1 1 1.997116 0 0.160000 2 0.155949 0.150000 0.080000 0.250000 0.160000 0.165394 0.150000 0 0.110000 0.200000 VEZF1 7716 broad.mit.edu 37 17 56060697 56060697 + Missense_Mutation SNP G G T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr17:56060697G>T ENST00000581208.1 - 2 131 c.91C>A c.(91-93)Ctg>Atg p.L31M VEZF1_ENST00000584396.1_Missense_Mutation_p.L22M NM_007146.2 NP_009077.2 Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 10 GCAGAGCTCAGGAGGGGCAGC 0.498000 0 SO:0001583 missense ENST00000581208.1 0 1 hg19 CCDS32687.1 . . . . . . . . . . G 15.130000 2.741196 0.491510 . . ENSG00000136451 ENST00000258963 . . . 5.940000 5.940000 0.961940 . 0.000000 0.85682 D 0.000000 T 0.61751 0.2372 L 0.27053 0.805 0.807220 D 1.000000 D 0.65815 0.995 P 0.61874 0.895 T 0.63102 -0.6712 9 0.59425 D 0.04 -1.2014 13.558900 0.617770 0.0706:0.0:0.9294:0.0 . 31 Q14119 VEZF1_HUMAN M 31 . ENSP00000258963:L31M L - 1 2 VEZF1 53415696 1 0.714170 1 0.803570 0.998000 0.957120 5.455000 0.666580 2.823000 0.971560 0.643000 0.837060 CTG TCGA-IB-7897-01A-21D-2201-08 VEZF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000443321.1 0 0 0 14 944 0 128 1 5.631268e-01 7 117 0 128 2 0 0 0 0 0 2 1 9.996863e-01 14 913 0 129 2 0 0 0 0 128 2 -2.523497 1 1 0 0 1 1 2 3 2.009361 0 0.160000 2 0.165342 0.190000 0.100000 1.000000 0.180000 0.247287 0.190000 0 0.140000 0.260000 RPTOR 57521 broad.mit.edu 37 17 78914377 78914377 + Missense_Mutation SNP C C A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr17:78914377C>A ENST00000306801.3 + 25 3363 c.3001C>A c.(3001-3003)Cag>Aag p.Q1001K CTD-2561B21.4_ENST00000576032.1_RNA|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.Q843K NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 44 TGTCAGGAGGCAGGCCCAGCA 0.632000 0 SO:0001583 missense ENST00000306801.3 0 1 hg19 CCDS11773.1 . . . . . . . . . . C 21.500000 4.165535 0.783390 . . ENSG00000141564 ENST00000306801;ENST00000544334 T;T 0.41758 1.01;0.99 4.800000 4.800000 0.616430 . 0.070570 0.64402 D 0.000019 T 0.56804 0.2010 L 0.50333 1.59 0.807220 D 1.000000 P;B 0.43578 0.811;0.111 P;B 0.57846 0.828;0.026 T 0.55173 -0.8182 10 0.42905 T 0.14 . 17.850400 0.887460 0.0:1.0:0.0:0.0 . 843;1001 F5H7J5;Q8N122 .;RPTOR_HUMAN K 1001;843 ENSP00000307272:Q1001K;ENSP00000442479:Q843K ENSP00000307272:Q1001K Q + 1 0 RPTOR 76528972 1 0.714170 9.620000e-01 0.402830 0.334000 0.286980 6.977000 0.761410 2.209000 0.713650 0.561000 0.740990 CAG TCGA-IB-7897-01A-21D-2201-08 RPTOR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438125.1 0 0 0 4 125 0 17 0 4.948841e-01 0 45 0 17 2 0 0 0 0 0 2 1 8.878568e-01 4 123 0 17 2 0 0 0 0 17 2 -7.273564 1 0 0 0 1 1 2 3 2.009361 0 0.160000 2 0.165342 0.440000 0.150000 1.000000 0.390000 0.494581 0.440000 0 0.260000 0.730000 UQCR11 10975 broad.mit.edu 37 19 1605381 1605381 + Missense_Mutation SNP A A G TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr19:1605381A>G ENST00000591899.3 - 1 99 c.28T>C c.(28-30)Tac>Cac p.Y10H UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000585937.1_Missense_Mutation_p.Y10H|UQCR11_ENST00000585671.1_Missense_Mutation_p.Y10H|UQCR11_ENST00000589880.1_Missense_Mutation_p.Y10H NM_006830.3 NP_006821.1 O14957 QCR10_HUMAN ubiquinol-cytochrome c reductase, complex III subunit XI 5 AGCTCCCGGTAGCGTGGGCCC 0.731000 0 SO:0001583 missense ENST00000591899.3 0 1 hg19 CCDS12073.1 . . . . . . . . . . A 16.300000 3.083359 0.558610 . . ENSG00000127540 ENST00000262946 . . . 4.760000 4.760000 0.606890 . 0.169791 0.39083 N 0.001465 T 0.62539 0.2436 . . . 0.327630 N 0.504898 D 0.59767 0.986 P 0.60541 0.876 T 0.68903 -0.5286 8 0.28530 T 0.3 -13.3155 12.135200 0.539660 1.0:0.0:0.0:0.0 . 10 O14957 QCR10_HUMAN H 10 . ENSP00000262946:Y10H Y - 1 0 UQCR11 1556381 9.900000e-01 0.363640 9.700000e-01 0.415380 0.042000 0.138120 4.876000 0.630790 2.002000 0.586370 0.533000 0.621200 TAC TCGA-IB-7897-01A-21D-2201-08 UQCR11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449668.3 0 0 0 3 71 0 11 0 7.061626e-01 0 55 0 11 2 0 0 0 0 0 2 1 7.945735e-01 2 68 0 11 2 0 0 0 0 11 2 -6.985544 1 0 0 0 1 1 2 3 2.019232 0 0.160000 2 0.167328 0.600000 0.170000 1.000000 1.000000 0.632819 0.600000 0 0.340000 1.000000 MAP1S 55201 broad.mit.edu 37 19 17838243 17838243 + Missense_Mutation SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr19:17838243G>A ENST00000324096.4 + 5 2201 c.2050G>A c.(2050-2052)Gca>Aca p.A684T CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A658T|MAP1S_ENST00000597681.1_3'UTR NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 25 CTCACTACCCGCAGAGGTGGG 0.711000 0 SO:0001583 missense ENST00000324096.4 0 1 hg19 CCDS32954.1 . . . . . . . . . . G 16.430000 3.120183 0.566130 . . ENSG00000130479 ENST00000324096;ENST00000544059 T;T 0.24350 1.86;1.87 4.160000 3.110000 0.358120 . 0.000000 0.49916 D 0.000137 T 0.43344 0.1243 L 0.61218 1.895 0.301450 N 0.803570 D;D 0.89917 1.0;1.0 D;D 0.72338 0.977;0.975 T 0.38779 -0.9645 10 0.46703 T 0.11 -18.582 10.018800 0.420310 0.1039:0.0:0.8961:0.0 . 658;684 B4DH53;Q66K74 .;MAP1S_HUMAN T 684;658 ENSP00000325313:A684T;ENSP00000439243:A658T ENSP00000325313:A684T A + 1 0 MAP1S 17699243 1 0.714170 7.000000e-03 0.137880 0.236000 0.253710 7.147000 0.773820 0.855000 0.353590 0.484000 0.476210 GCA TCGA-IB-7897-01A-21D-2201-08 MAP1S-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466027.1 0 0 0 3 63 0 12 0 2.246807e-01 0 15 0 12 2 0 0 0 0 0 2 1 8.125546e-01 3 63 0 12 2 0 0 0 0 12 2 -6.837779 1 1 0 0 1 1 2 3 2.019232 0 0.160000 2 0.167328 0.670000 0.190000 1.000000 1.000000 0.679057 0.670000 0 0.370000 1.000000 FCGBP 8857 broad.mit.edu 37 19 40398010 40398010 + Silent SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr19:40398010G>A ENST00000221347.6 - 14 6964 c.6957C>T c.(6955-6957)gcC>gcT p.A2319A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGGCCCCAGCGGCCTGACAGG 0.652000 0 SO:0001819 synonymous_variant ENST00000221347.6 0 1 hg19 CCDS12546.1 TCGA-IB-7897-01A-21D-2201-08 FCGBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462507.1 0 0 0 14 304 0 44 0 0 0 0 44 2 0 0 0 0 0 2 1 9.995947e-01 13 280 0 70 2 0 0 0 0 44 2 -15.308550 1 1 111138 3 32 1 1 2 3 2.019232 0 0.160000 2 0.167328 0.580000 0.320000 1.000000 0.550000 0.618611 0.580000 0 0.430000 0.800000 PNMAL2 57469 broad.mit.edu 37 19 46998201 46998201 + Silent SNP G G C TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr19:46998201G>C ENST00000377655.2 - 1 521 c.522C>G c.(520-522)acC>acG p.T174T PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Silent_p.T174T|AC011484.1_ENST00000377652.3_Missense_Mutation_p.W104C Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 8 Ovarian(192;0.00965)|all_neural(266;0.0459) TGCCCTTCTGGGTCAACCTGT 0.647000 0 SO:0001819 synonymous_variant ENST00000377655.2 0 1 hg19 . . . . . . . . . . G 13.410000 2.229867 0.393990 . . ENSG00000204850 ENST00000377652 . . . 2.830000 -0.738000 0.111250 . . . . . T 0.34658 0.0905 . . . 0.525010 D 0.999953 D 0.56968 0.978 B 0.42030 0.373 T 0.29701 -1.0003 7 0.87932 D 0 -1.6491 3.125200 0.064050 0.2934:0.2286:0.478:0.0 . 104 Q6ZVU4 . C 104 . ENSP00000366880:W104C W + 3 0 AC011484.1 51690041 5.760000e-01 0.267000 6.260000e-01 0.292130 0.859000 0.490530 -0.415000 0.071060 -0.071000 0.128860 -0.424000 0.059670 TGG TCGA-IB-7897-01A-21D-2201-08 PNMAL2-201 KNOWN basic protein_coding protein_coding 0 0 0 10 647 0 134 0 2.045703e-02 0 13 0 134 2 0 0 0 0 0 2 1 9.963332e-01 10 625 0 130 2 0 0 0 0 134 2 -2.543759 1 1 0 0 1 1 2 3 2.019232 0 0.160000 2 0.167328 0.200000 0.090000 1.000000 0.190000 0.279209 0.200000 0 0.140000 0.300000 FEM1A 55527 broad.mit.edu 37 19 4793864 4793864 + Silent SNP C C A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr19:4793864C>A ENST00000269856.3 + 1 2137 c.1998C>A c.(1996-1998)atC>atA p.I666I AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 17 Hepatocellular(1079;0.137) AGGCGTTCATCGAACTGCACT 0.592000 0 SO:0001819 synonymous_variant ENST00000269856.3 0 1 hg19 CCDS12135.1 TCGA-IB-7897-01A-21D-2201-08 FEM1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459000.1 0 0 0 3 91 0 17 0 7.911232e-01 0 88 0 17 2 0 0 0 0 0 2 1 8.021710e-01 3 88 0 17 2 0 0 0 0 17 2 -6.428781 1 1 0 0 1 1 2 3 2.019232 0 0.160000 2 0.167328 0.480000 0.130000 1.000000 1.000000 0.537298 0.480000 0 0.270000 0.870000 PUSL1 126789 broad.mit.edu 37 1 1244619 1244619 + Missense_Mutation SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr1:1244619G>A ENST00000379031.5 + 3 366 c.289G>A c.(289-291)Gcc>Acc p.A97T PUSL1_ENST00000470520.1_3'UTR|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|ACAP3_ENST00000353662.3_5'Flank NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) CCTGGCCGAGGCCCTCAACAC 0.746000 0 SO:0001583 missense ENST00000379031.5 0 1 hg19 CCDS20.1 . . . . . . . . . . g 16.090000 3.025366 0.546830 . . ENSG00000169972 ENST00000379031 T 0.56275 0.47 4.630000 2.500000 0.302970 Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1); 0.420768 0.18516 N 0.138901 T 0.73032 0.3535 M 0.90922 3.16 0.329240 D 0.516194 D 0.63880 0.993 P 0.61070 0.883 T 0.82554 -0.0399 10 0.87932 D 0 -24.0168 12.158200 0.540890 0.0:0.2825:0.7175:0.0 . 97 Q8N0Z8 PUSL1_HUMAN T 97 ENSP00000368318:A97T ENSP00000368318:A97T A + 1 0 PUSL1 1234482 9.750000e-01 0.340420 9.710000e-01 0.417170 0.211000 0.244170 2.775000 0.477020 2.141000 0.664460 0.450000 0.298270 GCC TCGA-IB-7897-01A-21D-2201-08 PUSL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000009438.1 0 0 0 3 40 0 10 0 0 0 0 10 2 0 0 0 0 0 2 1 8.051028e-01 2 40 0 10 2 0 0 0 0 10 2 -8.098799 1 0 0 0 1 1 2 3 2.023424 0 0.160000 2 0.167987 0.980000 0.290000 1.000000 1.000000 0.832256 0.980000 1 0.560000 1.000000 ACBD6 84320 broad.mit.edu 37 1 180461444 180461444 + Missense_Mutation SNP A A G TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr1:180461444A>G ENST00000367595.3 - 3 1031 c.344T>C c.(343-345)aTc>aCc p.I115T NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 ACBD6/RRP15(2) 7 AACTACTGCGATATATTCCTG 0.358000 0 SO:0001583 missense ENST00000367595.3 1 1 hg19 CCDS1339.1 . . . . . . . . . . A 18.530000 3.645038 0.673580 . . ENSG00000135847 ENST00000367595 T 0.33654 1.4 5.050000 5.050000 0.679360 FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4); 0.228453 0.45126 D 0.000387 T 0.54159 0.1841 M 0.78223 2.4 0.499150 D 0.999832 B 0.28026 0.198 P 0.45712 0.491 T 0.57533 -0.7795 10 0.51188 T 0.08 -8.125 13.795600 0.631680 1.0:0.0:0.0:0.0 . 115 Q9BR61 ACBD6_HUMAN T 115 ENSP00000356567:I115T ENSP00000356567:I115T I - 2 0 ACBD6 178728067 1 0.714170 9.610000e-01 0.401460 0.726000 0.416060 6.617000 0.742100 1.903000 0.550910 0.528000 0.532280 ATC TCGA-IB-7897-01A-21D-2201-08 ACBD6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084998.1 0 0 0 11 485 0 51 1 8.257995e-01 8 135 0 51 2 0 0 0 0 0 2 1 9.979724e-01 10 467 0 51 2 0 0 0 0 51 2 -9.696806 1 1 0 0 1 1 2 3 2.009767 0 0.160000 2 0.165342 0.290000 0.150000 1.000000 0.280000 0.345086 0.290000 0 0.210000 0.410000 PINK1 65018 broad.mit.edu 37 1 20975596 20975596 + Missense_Mutation SNP T T G TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr1:20975596T>G ENST00000321556.4 + 7 1454 c.1360T>G c.(1360-1362)Tac>Gac p.Y454D PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) CAATCCCTTCTACGGCCAGGG 0.607000 Esophageal Squamous(145;853 1803 8146 34412 35011) 0 SO:0001583 missense ENST00000321556.4 0 1 hg19 CCDS211.1 . . . . . . . . . . T 20.400000 3.986271 0.745890 . . ENSG00000158828 ENST00000321556 T 0.64260 -0.09 6.050000 6.050000 0.981690 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.057544 0.64402 D 0.000001 T 0.72922 0.3521 L 0.45470 1.425 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.87578 0.993;0.998 T 0.74225 -0.3734 10 0.56958 D 0.05 -10.0039 12.991800 0.586220 0.0:0.0:0.0:1.0 . 147;454 Q9BXM7-2;Q9BXM7 .;PINK1_HUMAN D 454 ENSP00000364204:Y454D ENSP00000364204:Y454D Y + 1 0 PINK1 20848183 1 0.714170 9.700000e-01 0.415380 0.633000 0.380330 7.179000 0.776650 2.323000 0.785720 0.533000 0.621200 TAC TCGA-IB-7897-01A-21D-2201-08 PINK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007954.1 0 0 0 5 243 0 43 1 9.518734e-01 8 264 0 43 2 0 0 0 0 0 2 1 9.319124e-01 4 235 0 43 2 0 0 0 0 43 2 -7.034824 1 0 0 0 1 1 2 3 2.013505 0 0.160000 2 0.166005 0.280000 0.100000 1.000000 0.250000 0.347252 0.280000 0 0.170000 0.460000 SLC35F3 148641 broad.mit.edu 37 1 234454518 234454518 + Missense_Mutation SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr1:234454518G>A ENST00000366617.3 + 5 997 c.769G>A c.(769-771)Ggc>Agc p.G257S SLC35F3_ENST00000366618.3_Missense_Mutation_p.G326S Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GCTCCTCCTGGGCAGTGCTAA 0.468000 0 SO:0001583 missense ENST00000366617.3 0 1 hg19 . . . . . . . . . . G 36.000000 5.759291 0.968980 . . ENSG00000183780 ENST00000366618;ENST00000366617 T;T 0.73469 -0.75;-0.75 5.710000 5.710000 0.891250 . 0.000000 0.85682 D 0.000000 D 0.87736 0.6252 M 0.83483 2.645 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.91635 0.998;0.999 D 0.86546 0.1831 10 0.40728 T 0.16 -24.7144 19.855900 0.967580 0.0:0.0:1.0:0.0 . 257;326 Q8IY50;Q8IY50-2 S35F3_HUMAN;. S 326;257 ENSP00000355577:G326S;ENSP00000355576:G257S ENSP00000355576:G257S G + 1 0 SLC35F3 232521141 1 0.714170 1 0.803570 0.999000 0.989320 9.869000 0.998100 2.693000 0.918960 0.655000 0.942530 GGC TCGA-IB-7897-01A-21D-2201-08 SLC35F3-002 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000128322.1 0 0 0 15 1015 0 141 0 1.045027e-01 0 35 0 141 2 0 0 0 0 0 2 1 9.998431e-01 15 991 0 139 2 0 0 0 0 141 2 -2.240007 0 1 0 0 1 1 2 3 2.009767 0 0.160000 2 0.165342 0.180000 0.100000 1.000000 0.180000 0.245936 0.180000 0 0.140000 0.260000 GREM2 64388 broad.mit.edu 37 1 240656720 240656720 + Missense_Mutation SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr1:240656720G>A ENST00000318160.4 - 2 322 c.56C>T c.(55-57)gCg>gTg p.A19V NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CCGGGCTTCCGCCACCTTCAC 0.612000 0 SO:0001583 missense ENST00000318160.4 0 1 hg19 CCDS31070.1 . . . . . . . . . . G 17.330000 3.361699 0.614030 . . ENSG00000180875 ENST00000318160 T 0.32753 1.44 5.150000 3.220000 0.369610 . 0.235752 0.35378 U 0.003251 T 0.22205 0.0535 L 0.38175 1.15 0.405520 D 0.981126 B 0.27971 0.196 B 0.16722 0.016 T 0.04708 -1.0932 10 0.48119 T 0.1 -3.9963 10.411000 0.442940 0.0:0.1461:0.7017:0.1522 . 19 Q9H772 GREM2_HUMAN V 19 ENSP00000318650:A19V ENSP00000318650:A19V A - 2 0 GREM2 238723343 4.110000e-01 0.253840 8.180000e-01 0.326260 0.995000 0.863560 3.465000 0.530640 0.524000 0.285020 0.557000 0.710580 GCG TCGA-IB-7897-01A-21D-2201-08 GREM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096286.1 0 0 0 7 167 0 27 0 4.024150e-02 0 7 0 27 2 0 0 0 0 0 2 1 9.706459e-01 5 148 0 25 2 0 0 0 0 27 2 -9.404836 1 0 121222 22 41 1 1 2 3 2.009767 0 0.160000 2 0.165342 0.540000 0.240000 1.000000 1.000000 0.581787 0.540000 0 0.360000 0.810000 PHACTR4 65979 broad.mit.edu 37 1 28807088 28807088 + Silent SNP C C A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr1:28807088C>A ENST00000373839.3 + 9 1993 c.1732C>A c.(1732-1734)Cgg>Agg p.R578R PHACTR4_ENST00000373836.3_Silent_p.R588R|PHACTR4_ENST00000493669.1_3'UTR|RNU6ATAC27P_ENST00000408289.1_RNA NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) GAATGAAATACGGCACCAGAT 0.428000 0 SO:0001819 synonymous_variant ENST00000373839.3 1 1 hg19 CCDS41293.1 TCGA-IB-7897-01A-21D-2201-08 PHACTR4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000009868.4 0 0 0 29 1319 0 202 1 5.938299e-01 6 85 0 202 2 0 0 0 0 0 2 1 1 28 1287 0 201 2 0 0 0 0 202 2 -2.237376 0 1 0 0 1 1 2 3 2.008535 0 0.160000 2 0.165342 0.270000 0.180000 1.000000 0.270000 0.324927 0.270000 0 0.220000 0.340000 CYB5RL 606495 broad.mit.edu 37 1 54640404 54640404 + Missense_Mutation SNP C C T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr1:54640404C>T ENST00000534324.1 - 6 835 c.836G>A c.(835-837)tGc>tAc p.C279Y RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000419823.2_Missense_Mutation_p.C279Y|CYB5RL_ENST00000401046.3_Missense_Mutation_p.C131Y|CYB5RL_ENST00000542737.1_Missense_Mutation_p.C279Y|AL357673.1_ENST00000536061.1_5'Flank|CYB5RL_ENST00000287899.8_Missense_Mutation_p.C211Y|CYB5RL_ENST00000537208.1_Missense_Mutation_p.C211Y|RP11-446E24.4_ENST00000525949.1_5'Flank Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 8 TCTCCGACAGCAGCTGACCAG 0.552000 0 SO:0001583 missense ENST00000534324.1 1 1 hg19 CCDS44151.1 . . . . . . . . . . C 7.486000 0.649652 0.145160 . . ENSG00000215883 ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208 D;D;D;D;D;D 0.85861 -2.04;-2.04;-2.04;-1.9;-2.04;-1.9 5.140000 3.210000 0.368540 Oxidoreductase FAD/NAD(P)-binding (1); 0.413252 0.17337 U 0.177898 T 0.77356 0.4118 L 0.36672 1.1 0.243540 N 0.994901 B;B 0.22414 0.069;0.001 B;B 0.28553 0.091;0.001 T 0.64219 -0.6459 10 0.32370 T 0.25 -19.4038 7.849600 0.294460 0.0:0.2439:0.6084:0.1477 . 279;131 Q6IPT4;Q6IPT4-3 NB5R5_HUMAN;. Y 279;131;279;211;279;211 ENSP00000409075:C279Y;ENSP00000383825:C131Y;ENSP00000434343:C279Y;ENSP00000287899:C211Y;ENSP00000438151:C279Y;ENSP00000443797:C211Y ENSP00000287899:C211Y C - 2 0 CYB5RL 54412992 9.840000e-01 0.351630 4.650000e-01 0.271550 0.376000 0.300140 2.109000 0.418630 0.696000 0.316960 0.555000 0.697020 TGC TCGA-IB-7897-01A-21D-2201-08 CYB5RL-010 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388318.1 0 0 0 8 234 0 38 0 6.308051e-02 0 11 0 38 2 0 0 0 0 0 2 1 9.871359e-01 7 222 0 37 2 0 0 0 0 38 2 -9.592363 1 1 0 0 1 1 2 3 2.008535 0 0.160000 2 0.165342 0.440000 0.200000 1.000000 0.410000 0.489363 0.440000 0 0.300000 0.650000 TMPRSS3 64699 broad.mit.edu 37 21 43796648 43796648 + Splice_Site SNP A A T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr21:43796648A>T ENST00000291532.3 - 11 2150 c.e11+1 TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 13 GCGGCCCCGTACCTGGCAGCT 0.622000 OREG0031642 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 0 SO:0001630 splice_region_variant ENST00000291532.3 0 1 hg19 CCDS13686.1 . . . . . . . . . . A 22.700000 4.329752 0.816900 . . ENSG00000160183 ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399 . . . 4.940000 4.940000 0.650670 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . . 14.599700 0.684320 1.0:0.0:0.0:0.0 . . . . . -1 . . . - . . TMPRSS3 42669717 1 0.714170 9.450000e-01 0.383650 0.866000 0.496080 8.554000 0.906890 1.840000 0.535000 0.482000 0.462540 . TCGA-IB-7897-01A-21D-2201-08 TMPRSS3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000195347.1 0 0 0 9 451 0 84 0 0 1 0 0 84 2 0 0 0 0 0 2 1 9.934552e-01 9 438 0 83 2 0 0 0 0 84 2 -8.500725 1 1 0 0 1 0 1 1 1.998541 0 0.160000 2 0.156627 0.250000 0.120000 0.440000 0.240000 0.266331 0.250000 0 0.170000 0.340000 C2orf71 388939 broad.mit.edu 37 2 29295748 29295748 + Silent SNP C C T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr2:29295748C>T ENST00000331664.5 - 1 1379 c.1380G>A c.(1378-1380)ggG>ggA p.G460G NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 60 AGACCCCAATCCCAAAGGAAT 0.557000 0 SO:0001819 synonymous_variant ENST00000331664.5 0 1 hg19 CCDS42669.1 TCGA-IB-7897-01A-21D-2201-08 C2orf71-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000324924.3 0 0 0 16 535 0 92 0 0 0 0 92 2 0 0 0 0 0 2 1 9.999178e-01 15 521 0 91 2 0 0 0 0 92 2 -3.452277 1 1 0 0 1 1 2 3 2.012100 0 0.160000 2 0.166005 0.380000 0.220000 1.000000 0.360000 0.428343 0.380000 0 0.290000 0.510000 SCN5A 6331 broad.mit.edu 37 3 38591931 38591931 + Missense_Mutation SNP C C G TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr3:38591931C>G ENST00000333535.4 - 28 6081 c.5932G>C c.(5932-5934)Gac>Cac p.D1978H SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 107 Medulloblastoma(35;0.163) Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909) GTGACACTGTCATAGGAGGGT 0.602000 0 SO:0001583 missense ENST00000333535.4 0 1 hg19 CCDS46796.1 . . . . . . . . . . C 18.180000 3.565807 0.656510 . . ENSG00000183873 ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557 D;D;D;D;D;D;D;D;D;D 0.96856 -4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08 4.950000 4.950000 0.653090 . 0.058474 0.64402 D 0.000003 D 0.95529 0.8547 N 0.08118 0 0.547530 D 0.999986 D;D;P;D;D;D 0.89917 0.959;1.0;0.64;0.999;0.958;1.0 P;D;B;D;P;D 0.85130 0.496;0.997;0.387;0.973;0.693;0.996 D 0.97067 0.9775 10 0.62326 D 0.03 . 18.371400 0.904080 0.0:1.0:0.0:0.0 . 1924;1945;1960;1978;1977;1978 E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2 .;.;.;SCN5A_HUMAN;.;. H 1960;1977;1978;1924;1977;1960;1978;1945;1924;1924 ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H ENSP00000328968:D1978H D - 1 0 SCN5A 38566935 1 0.714170 9.930000e-01 0.491080 0.998000 0.957120 4.781000 0.623890 2.573000 0.868260 0.655000 0.942530 GAC TCGA-IB-7897-01A-21D-2201-08 SCN5A-014 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000377958.1 0 0 0 7 308 0 42 0 7.142432e-04 0 2 0 42 2 0 0 0 0 0 2 1 9.783250e-01 7 297 0 42 2 0 0 0 0 42 2 -2.839138 1 1 120936 5 16 1 0 0 0 1.972815 0 0.160000 2 0.144951 0.280000 0.120000 0.520000 0.270000 0.304120 0.280000 0 0.190000 0.400000 RBM6 10180 broad.mit.edu 37 3 50005374 50005374 + Silent SNP A A T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr3:50005374A>T ENST00000266022.4 + 3 775 c.516A>T c.(514-516)ccA>ccT p.P172P RBM6_ENST00000442092.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_Silent_p.P40P NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 33 ATGCTCCTCCATCTGACTTCA 0.468000 0 SO:0001819 synonymous_variant ENST00000266022.4 0 1 hg19 CCDS2809.1 TCGA-IB-7897-01A-21D-2201-08 RBM6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345528.4 0 0 0 7 441 0 69 0 4.165537e-01 1 81 0 69 2 0 0 0 0 0 2 1 9.793298e-01 7 432 0 69 2 0 0 0 0 69 2 -6.820942 1 1 0 0 1 0 0 0 1.972815 0 0.160000 2 0.144951 0.200000 0.080000 0.370000 0.190000 0.215443 0.200000 0 0.130000 0.290000 FGB 2244 broad.mit.edu 37 4 155487741 155487741 + Missense_Mutation SNP C C A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr4:155487741C>A ENST00000302068.4 + 3 470 c.407C>A c.(406-408)gCt>gAt p.A136D FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AATGTGGAAGCTGTTTCCCAG 0.433000 NSCLC(106;1133 1613 21870 46110 52656) 0 SO:0001583 missense ENST00000302068.4 0 1 hg19 CCDS3786.1 . . . . . . . . . . C 0.023000 -1.403604 0.011650 . . ENSG00000171564 ENST00000302068;ENST00000537843 T 0.80738 -1.41 5.140000 0.887000 0.192000 Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2); 1.797860 0.02358 N 0.076577 T 0.57799 0.2078 N 0.02539 -0.55 0.093100 N 1.000000 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.53739 -0.8396 10 0.07325 T 0.83 . 9.219800 0.373700 0.4197:0.5032:0.0:0.0771 . 119;136 B4E1D3;P02675 .;FIBB_HUMAN D 136;119 ENSP00000306099:A136D ENSP00000306099:A136D A + 2 0 FGB 155707191 0 0.058580 0 0.037020 0.001000 0.015030 -0.058000 0.117500 -0.020000 0.140320 -1.151000 0.018290 GCT TCGA-IB-7897-01A-21D-2201-08 FGB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317595.1 0 0 0 9 594 0 100 0 8.882272e-04 0 3 0 100 2 0 0 0 0 0 2 1 9.937705e-01 9 583 0 100 2 0 0 0 0 100 2 -7.112338 1 1 0 0 1 1 2 3 2.012271 0 0.160000 2 0.166005 0.200000 0.090000 1.000000 0.190000 0.264082 0.200000 0 0.140000 0.300000 HERC6 55008 broad.mit.edu 37 4 89349856 89349856 + Missense_Mutation SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr4:89349856G>A ENST00000264346.7 + 16 2119 c.2060G>A c.(2059-2061)cGt>cAt p.R687H HERC6_ENST00000380265.5_Missense_Mutation_p.R651H NM_017912.3 NP_060382.3 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 11 Hepatocellular(203;0.114) GATGCTCTGCGTCAATTAAGT 0.388000 0 SO:0001583 missense ENST00000264346.7 0 1 hg19 CCDS47098.1 . . . . . . . . . . G 10.400000 1.340412 0.243390 . . ENSG00000138642 ENST00000380265;ENST00000264346 T;T 0.77877 0.88;-1.13 4.250000 4.250000 0.503520 HECT (1); 0.116551 0.34002 N 0.004344 T 0.63129 0.2485 L 0.41710 1.295 0.807220 D 1.000000 B;B 0.31817 0.341;0.231 B;B 0.19148 0.024;0.01 T 0.60078 -0.7333 10 0.10902 T 0.67 . 12.355900 0.551760 0.0:0.0:1.0:0.0 . 651;687 Q8IVU3-2;Q8IVU3 .;HERC6_HUMAN H 651;687 ENSP00000369617:R651H;ENSP00000264346:R687H ENSP00000264346:R687H R + 2 0 HERC6 89568879 4.600000e-02 0.202720 9.970000e-01 0.539660 0.863000 0.493680 0.184000 0.169390 2.356000 0.799430 0.467000 0.429560 CGT TCGA-IB-7897-01A-21D-2201-08 HERC6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000363259.2 0 0 0 3 62 0 16 1 7.034706e-01 4 44 0 16 2 0 0 0 0 0 2 1 8.025600e-01 3 60 0 16 2 0 0 0 0 16 2 -6.781291 1 1 120674 5 36 1 1 2 3 2.012271 0 0.160000 2 0.166005 0.670000 0.190000 1.000000 1.000000 0.678524 0.670000 0 0.380000 1.000000 NIPBL 25836 broad.mit.edu 37 5 37044451 37044451 + Silent SNP G G T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr5:37044451G>T ENST00000282516.8 + 35 6610 c.6111G>T c.(6109-6111)acG>acT p.T2037T NIPBL_ENST00000448238.2_Silent_p.T2037T NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TCTTATAGACGCAAAATGATT 0.358000 0 SO:0001819 synonymous_variant ENST00000282516.8 0 1 hg19 CCDS3920.1 TCGA-IB-7897-01A-21D-2201-08 NIPBL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207582.1 0 0 0 4 175 0 24 0 5.566914e-01 0 73 0 24 2 0 0 0 0 0 2 1 8.886388e-01 5 172 0 24 2 0 0 0 0 24 2 -3.275064 1 1 0 0 1 1 2 3 2.010679 0 0.160000 2 0.165342 0.320000 0.100000 1.000000 0.280000 0.380321 0.320000 0 0.190000 0.530000 VARS2 57176 broad.mit.edu 37 6 30892256 30892256 + Silent SNP C C G TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr6:30892256C>G ENST00000321897.5 + 25 3224 c.2592C>G c.(2590-2592)ctC>ctG p.L864L VARS2_ENST00000416670.2_Silent_p.L864L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Silent_p.L724L|VARS2_ENST00000541562.1_Silent_p.L894L Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 46 CTGAAGAGCTCTGGCAGAGGC 0.706000 0 SO:0001819 synonymous_variant ENST00000321897.5 1 1 hg19 CCDS34387.1 TCGA-IB-7897-01A-21D-2201-08 VARS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076566.2 0 0 0 7 334 0 48 0 2.354994e-02 0 10 0 48 2 0 0 0 0 0 2 1 9.752468e-01 5 312 0 48 2 0 0 0 0 48 2 -7.410055 1 1 0 0 1 0 0 0 1.978661 0 0.160000 2 0.147727 0.260000 0.110000 0.490000 0.250000 0.282500 0.260000 0 0.180000 0.370000 HLA-DMA 3108 broad.mit.edu 37 6 32917503 32917503 + Silent SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr6:32917503G>A ENST00000374843.4 - 3 622 c.537C>T c.(535-537)gtC>gtT p.V179V HLA-DMA_ENST00000395305.3_Silent_p.V84V|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Silent_p.V145V|HLA-DMA_ENST00000464392.1_5'UTR NM_006120.3 NP_006111.2 P28067 DMA_HUMAN major histocompatibility complex, class II, DM alpha 11 TGAGTCCATCGACAGCTGAGA 0.473000 0 SO:0001819 synonymous_variant ENST00000374843.4 0 1 hg19 CCDS4761.1 TCGA-IB-7897-01A-21D-2201-08 HLA-DMA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076325.2 0 0 0 7 388 0 65 1 9.967484e-01 14 595 0 65 2 0 0 0 0 0 2 1 9.795516e-01 6 382 0 65 2 0 0 0 0 65 2 -6.572624 1 0 0 0 1 0 1 1 1.971995 0 0.160000 2 0.147727 0.220000 0.100000 0.420000 0.220000 0.244645 0.220000 0 0.150000 0.320000 DAAM2 23500 broad.mit.edu 37 6 39847105 39847105 + Missense_Mutation SNP C C T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr6:39847105C>T ENST00000398904.2 + 14 1879 c.1697C>T c.(1696-1698)cCg>cTg p.P566L DAAM2_ENST00000274867.4_Missense_Mutation_p.P566L|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.P566L Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 49 Ovarian(28;0.0355)|Colorectal(47;0.196) GGGGGACCCCCGACTCCCCCA 0.672000 0 SO:0001583 missense ENST00000398904.2 0 1 hg19 CCDS56426.1 . . . . . . . . . . C 12.370000 1.918426 0.339080 . . ENSG00000146122 ENST00000274867;ENST00000398904;ENST00000538976 D;D;D 0.92446 -3.04;-3.04;-3.04 4.630000 4.630000 0.577260 Actin-binding FH2 (1); 0.000000 0.85682 D 0.000000 D 0.90143 0.6920 L 0.47716 1.5 0.807220 D 1.000000 D;D 0.61080 0.989;0.982 P;P 0.51170 0.661;0.459 D 0.89794 0.3970 10 0.42905 T 0.14 . 17.262900 0.870750 0.0:1.0:0.0:0.0 . 566;566 G5EA45;Q86T65 .;DAAM2_HUMAN L 566 ENSP00000274867:P566L;ENSP00000381876:P566L;ENSP00000437808:P566L ENSP00000274867:P566L P + 2 0 DAAM2 39955083 9.990000e-01 0.422020 9.780000e-01 0.431390 0.008000 0.064300 4.374000 0.595430 2.383000 0.812150 0.650000 0.862430 CCG TCGA-IB-7897-01A-21D-2201-08 DAAM2-003 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000280648.1 0 0 0 4 138 0 33 0 3.325286e-02 0 8 0 33 2 0 0 0 0 0 2 1 8.773031e-01 4 130 0 31 2 0 0 0 0 33 2 -6.605908 1 1 0 0 1 1 2 3 2.011705 0 0.160000 2 0.166005 0.400000 0.130000 1.000000 0.340000 0.463179 0.400000 0 0.240000 0.680000 FOXP2 93986 broad.mit.edu 37 7 114298280 114298280 + Nonsense_Mutation SNP C C T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr7:114298280C>T ENST00000393494.2 + 11 1705 c.1426C>T c.(1426-1428)Cga>Tga p.R476* FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R455*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R476*|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R493*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.R501*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R384* O15409 FOXP2_HUMAN forkhead box P2 52 GGGAGCCATACGAAGGCGACA 0.507000 0 SO:0001587 stop_gained ENST00000393494.2 0 1 hg19 CCDS5760.1 . . . . . . . . . . C 39.000000 7.583133 0.983710 . . ENSG00000128573 ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489 . . . 5.710000 5.710000 0.891250 . 0.113270 0.64402 D 0.000007 . . . . . . 0.807220 D 1.000000 . . . . . . . . . . 0.02654 T 1 . 20.224500 0.983370 0.0:1.0:0.0:0.0 . . . . X 476;501;493;476;453;384 . ENSP00000265436:R476X R + 1 2 FOXP2 114085516 1 0.714170 1 0.803570 0.999000 0.989320 3.664000 0.545250 2.861000 0.982270 0.650000 0.862430 CGA TCGA-IB-7897-01A-21D-2201-08 FOXP2-014 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317366.1 0 0 0 15 444 0 74 0 1.187377e-01 0 17 0 74 2 0 0 0 0 0 2 1 9.998203e-01 15 422 0 73 2 0 0 0 0 74 2 -13.937700 1 1 0 0 1 1 2 3 2.011317 0 0.160000 2 0.165342 0.420000 0.240000 1.000000 0.410000 0.468378 0.420000 0 0.320000 0.570000 LRP12 29967 broad.mit.edu 37 8 105502937 105502937 + Silent SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr8:105502937G>A ENST00000276654.5 - 7 2652 c.2544C>T c.(2542-2544)aaC>aaT p.N848N LRP12_ENST00000424843.2_Silent_p.N829N|LRP12_ENST00000518375.1_5'UTR NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CACTCGTTTCGTTTTTCAGTG 0.418000 0 SO:0001819 synonymous_variant ENST00000276654.5 0 1 hg19 CCDS6303.1 TCGA-IB-7897-01A-21D-2201-08 LRP12-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380821.1 0 0 0 13 622 0 81 0 4.874092e-01 1 75 0 81 2 0 0 0 0 0 2 1 9.994466e-01 13 606 0 81 2 0 0 0 0 81 2 -2.786688 1 1 121410 8 41 1 1 2 3 2.011482 0 0.160000 2 0.165342 0.260000 0.140000 1.000000 0.260000 0.320979 0.260000 0 0.200000 0.370000 PLEC 5339 broad.mit.edu 37 8 145006714 145006714 + Missense_Mutation SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr8:145006714G>A ENST00000322810.4 - 16 2411 c.2242C>T c.(2242-2244)Cgc>Tgc p.R748C PLEC_ENST00000436759.2_Missense_Mutation_p.R638C|PLEC_ENST00000354589.3_Missense_Mutation_p.R611C|PLEC_ENST00000527096.1_Missense_Mutation_p.R634C|PLEC_ENST00000357649.2_Missense_Mutation_p.R615C|PLEC_ENST00000354958.2_Missense_Mutation_p.R589C|PLEC_ENST00000345136.3_Missense_Mutation_p.R611C|PLEC_ENST00000356346.3_Missense_Mutation_p.R597C|PLEC_ENST00000398774.2_Missense_Mutation_p.R579C NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin p.R611C(1)|p.R748C(1)|p.R638C(1) 137 GACCTGAGGCGGGCCTTGGAG 0.657000 3 Substitution - Missense(3) SO:0001583 missense ENST00000322810.4 0 1 hg19 CCDS43772.1 . . . . . . . . . . G 12.410000 1.930956 0.340960 . . ENSG00000178209 ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025 T;T;T;T;T;T;T;T;T;D 0.96334 -0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-3.98 4.600000 3.710000 0.425840 . 0.000000 0.64402 U 0.000005 D 0.97838 0.9290 M 0.84773 2.715 0.807220 D 1.000000 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 D;D;D;D;D;D;D;D 0.85130 0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997 D 0.97902 1.0303 10 0.87932 D 0 . 11.350300 0.495830 0.0925:0.0:0.9075:0.0 . 638;597;589;748;579;611;615;611 Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4 .;.;.;PLEC_HUMAN;.;.;.;. C 611;615;611;579;748;589;597;638;634;655 ENSP00000344848:R611C;ENSP00000350277:R615C;ENSP00000346602:R611C;ENSP00000381756:R579C;ENSP00000323856:R748C;ENSP00000347044:R589C;ENSP00000348702:R597C;ENSP00000388180:R638C;ENSP00000434583:R634C;ENSP00000437303:R655C ENSP00000323856:R748C R - 1 0 PLEC 145078702 1 0.714170 1 0.803570 0.558000 0.355540 6.203000 0.721370 2.271000 0.756650 0.453000 0.300090 CGC TCGA-IB-7897-01A-21D-2201-08 PLEC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383281.1 0 0 0 11 648 0 110 1 7.092220e-01 13 132 0 110 2 0 0 0 0 0 2 1 9.979377e-01 11 623 0 106 2 0 0 0 0 110 2 -2.968742 1 1 120706 2 33 1 1 2 3 2.011482 0 0.160000 2 0.165342 0.220000 0.110000 1.000000 0.210000 0.276392 0.220000 0 0.150000 0.310000 PTGS1 5742 broad.mit.edu 37 9 125148756 125148756 + Silent SNP C C T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr9:125148756C>T ENST00000362012.2 + 9 1046 c.1041C>T c.(1039-1041)taC>taT p.Y347Y PTGS1_ENST00000223423.4_Silent_p.Y347Y|PTGS1_ENST00000540753.1_Silent_p.Y322Y|PTGS1_ENST00000373698.5_Silent_p.Y238Y|AL162424.1_ENST00000600713.1_Intron NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2 NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 8 Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198) TCGAGGAGTACGTGCAGCAGC 0.527000 0 SO:0001819 synonymous_variant ENST00000362012.2 1 1 hg19 CCDS6842.1 TCGA-IB-7897-01A-21D-2201-08 PTGS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053933.1 0 0 0 22 1054 0 137 1 2.107155e-01 2 38 0 137 2 0 0 0 0 0 2 1 9.999983e-01 22 1035 0 136 2 0 0 0 0 137 2 -2.856811 1 1 121412 2 39 1 0 0 0 1.960649 0 0.160000 2 0.139344 0.240000 0.150000 0.360000 0.250000 0.258803 0.240000 0 0.200000 0.310000 ROR2 4920 broad.mit.edu 37 9 94486741 94486741 + Missense_Mutation SNP C C T TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chr9:94486741C>T ENST00000375708.3 - 9 2233 c.2035G>A c.(2035-2037)Ggt>Agt p.G679S ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G539S NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 71 AGGACCACACCGTAGGACCAG 0.607000 0 SO:0001583 missense ENST00000375708.3 0 1 hg19 CCDS6691.1 . . . . . . . . . . C 17.590000 3.427881 0.627330 . . ENSG00000169071 ENST00000375715;ENST00000375708 D;D 0.99150 -5.49;-5.49 4.860000 4.860000 0.630820 Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.42420 D 0.000712 D 0.99471 0.9812 M 0.93638 3.44 0.807220 D 1.000000 D;D 0.76494 0.995;0.999 P;D 0.75020 0.797;0.985 D 0.98372 1.0554 10 0.87932 D 0 . 18.208700 0.898630 0.0:1.0:0.0:0.0 . 679;539 Q01974;B1APY4 ROR2_HUMAN;. S 539;679 ENSP00000364867:G539S;ENSP00000364860:G679S ENSP00000364860:G679S G - 1 0 ROR2 93526562 1 0.714170 1 0.803570 0.446000 0.321370 5.842000 0.694170 2.526000 0.851670 0.561000 0.740990 GGT TCGA-IB-7897-01A-21D-2201-08 ROR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053040.1 0 0 0 6 244 0 47 0 2.740425e-01 0 37 0 47 2 0 0 0 0 0 2 1 9.613594e-01 5 236 0 44 2 0 0 0 0 47 2 -7.143834 1 1 0 0 1 0 0 0 1.962861 0 0.160000 2 0.140753 0.310000 0.120000 0.590000 0.280000 0.331185 0.310000 0 0.200000 0.450000 MAGEA3 4102 broad.mit.edu 37 X 151935609 151935609 + Silent SNP G G A TCGA-IB-7897-01A-21D-2201-08 TCGA-IB-7897-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c284154-c3c3-4cd9-be15-7299b375fc83 e9687af7-9276-4f39-9f3d-5a96e305026f g.chrX:151935609G>A ENST00000393902.3 - 3 1125 c.558C>T c.(556-558)taC>taT p.Y186Y MAGEA3_ENST00000370278.3_Silent_p.Y186Y P43357 MAGA3_HUMAN melanoma antigen family A, 3 15 Acute lymphoblastic leukemia(192;6.56e-05) GCAGGCCATCGTAGGAGAGGC 0.572000 0 SO:0001819 synonymous_variant ENST00000393902.3 1 1 hg19 CCDS14715.1 TCGA-IB-7897-01A-21D-2201-08 MAGEA3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058744.1 0 0 0 27 1152 0 223 0 0 0 0 223 2 0 0 0 0 0 2 1 9.999999e-01 27 1125 0 223 2 0 0 0 0 223 2 -2.813178 1 1 121180 12 43 1 0 1 1 0.160000 2 0.160000 0.280000 0.190000 0.400000 0.280000 0.295026 0.280000 0 0.230000 0.350000