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 UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter GRIK3 2899 broad.mit.edu 37 1 37271849 37271849 + Nonsense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr1:37271849C>A uc001caz.2 - 14 2305 c.2170G>T c.(2170-2172)GAG>TAG p.E724* GRIK3_uc001cba.1_Nonsense_Mutation_p.E724* NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 724 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGATGCCCTCCTCGTTGTTC 0.602 10 54 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42049199 42049199 + Nonsense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr1:42049199G>A uc001cgz.3 - 4 2483 c.1270C>T c.(1270-1272)CGA>TGA p.R424* HIVEP3_uc001cha.3_Nonsense_Mutation_p.R424*|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 424 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGTCCTATTCGCCCACACTTG 0.607 6 67 --- --- --- --- PASS CYP4A22 284541 broad.mit.edu 37 1 47614361 47614361 + Silent SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr1:47614361C>T uc001cqv.1 + 12 1503 c.1452C>T c.(1450-1452)CCC>CCT p.P484P NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 484 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 TGCCTGATCCCACCAGGATCC 0.577 12 104 --- --- --- --- PASS SLC5A9 200010 broad.mit.edu 37 1 48705040 48705040 + Missense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr1:48705040G>A uc001cro.2 + 12 1560 c.1508G>A c.(1507-1509)CGT>CAT p.R503H SLC5A9_uc001crn.2_Missense_Mutation_p.R528H|SLC5A9_uc010omt.1_Missense_Mutation_p.R517H|SLC5A9_uc001crp.2_Missense_Mutation_p.R170H|SLC5A9_uc010omu.1_Missense_Mutation_p.R170H|SLC5A9_uc009vyt.1_RNA NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 503 Helical; (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 GGGCTTCTGCGTATGATCCTG 0.597 21 83 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57372362 57372362 + Silent SNP G A A rs147666641 byFrequency TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr1:57372362G>A uc001cyo.2 + 8 1251 c.1119G>A c.(1117-1119)ACG>ACA p.T373T NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 373 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 GAGATATCACGACATGTTTTG 0.393 20 90 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037915 75037915 + Missense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr1:75037915G>A uc001dgg.2 - 14 3698 c.3479C>T c.(3478-3480)ACG>ATG p.T1160M NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1160 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AAATCCAGGCGTTGCTTCAAA 0.473 6 95 --- --- --- --- PASS DNAJB4 11080 broad.mit.edu 37 1 78479055 78479055 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr1:78479055C>T uc001dij.2 + 2 691 c.532C>T c.(532-534)CGG>TGG p.R178W DNAJB4_uc010orn.1_Missense_Mutation_p.R63W NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 178 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding 0 TTGTACCAAACGGATGAAGAT 0.408 4 90 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24928059 24928059 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr2:24928059C>T uc002rfk.2 + 10 1312 c.1054C>T c.(1054-1056)CCA>TCA p.P352S NCOA1_uc010eye.2_Missense_Mutation_p.P352S|NCOA1_uc002rfi.2_Missense_Mutation_p.P201S|NCOA1_uc002rfj.2_Missense_Mutation_p.P352S|NCOA1_uc002rfl.2_Missense_Mutation_p.P352S NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 352 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCTCAAAGTCCAGACATGCA 0.428 T PAX3 alveolar rhadomyosarcoma 5 122 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656545 40656545 + Silent SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr2:40656545G>A uc002rrx.2 - 1 900 c.876C>T c.(874-876)GAC>GAT p.D292D SLC8A1_uc002rry.2_Silent_p.D292D|SLC8A1_uc002rrz.2_Silent_p.D292D|SLC8A1_uc002rsa.2_Silent_p.D292D|SLC8A1_uc002rsd.3_Silent_p.D292D|SLC8A1_uc002rsb.1_Silent_p.D292D|SLC8A1_uc010fan.1_Silent_p.D292D|SLC8A1_uc002rsc.1_Silent_p.D292D NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 292 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCACTTTCCCGTCCATTTCAA 0.443 37 221 --- --- --- --- PASS TUBA3E 112714 broad.mit.edu 37 2 130951985 130951985 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr2:130951985C>T uc002tqv.2 - 4 531 c.430G>A c.(430-432)GGC>AGC p.G144S NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 144 GTP (Potential). microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GAGCCAGTGCCGCCCCCAAAG 0.577 15 45 --- --- --- --- PASS SLC40A1 30061 broad.mit.edu 37 2 190437668 190437668 + Silent SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr2:190437668C>A uc002uqp.3 - 4 642 c.291G>T c.(289-291)GTG>GTT p.V97V SLC40A1_uc002uqq.2_Silent_p.V97V NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 97 Helical; (Potential). anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CATTCTGTACCACCAGCGAGG 0.428 4 92 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238274445 238274445 + Missense_Mutation SNP C T T rs113251155 TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr2:238274445C>T uc002vwl.2 - 12 6019 c.5734G>A c.(5734-5736)GAG>AAG p.E1912K COL6A3_uc002vwo.2_Missense_Mutation_p.E1706K|COL6A3_uc010znj.1_Missense_Mutation_p.E1305K NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1912 VWFA 10.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGGAACTTCTCGAGCATCTCT 0.632 7 69 --- --- --- --- PASS BOK 666 broad.mit.edu 37 2 242511723 242511723 + Silent SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr2:242511723C>T uc002wbq.2 + 5 771 c.525C>T c.(523-525)CTC>CTT p.L175L BOK_uc002wbr.2_5'Flank NM_032515 NP_115904 Q9UMX3 BOK_HUMAN BCL2-related ovarian killer 175 BH2. activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis mitochondrial membrane|nucleus ovary(1) 1 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835) CTGATGTCCTCAAGTGTGTGG 0.652 4 20 --- --- --- --- PASS ZBTB11 27107 broad.mit.edu 37 3 101390091 101390091 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr3:101390091C>T uc003dve.3 - 3 891 c.661G>A c.(661-663)GAA>AAA p.E221K ZBTB11_uc003dvf.2_3'UTR NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 221 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TCTTCTCCTTCAATTAACAAA 0.383 15 103 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23526956 23526956 + Silent SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr5:23526956C>A uc003jgo.2 + 11 1941 c.1759C>A c.(1759-1761)CGG>AGG p.R587R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 587 C2H2-type 4. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGAGTGTGGGCGGGGCTTTAG 0.607 HNSCC(3;0.000094) 7 105 --- --- --- --- PASS MSH3 4437 broad.mit.edu 37 5 79950593 79950593 + Nonsense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr5:79950593C>A uc003kgz.2 + 1 300 c.47C>A c.(46-48)TCA>TAA p.S16* DHFR_uc011ctl.1_5'UTR|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Nonsense_Mutation_p.E55*|DHFR_uc003kgy.1_5'UTR NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 16 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GCCTCCAGCTCAGCCCCTGCG 0.687 MMR 3 26 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140222774 140222774 + Missense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr5:140222774G>A uc003lhs.2 + 1 1868 c.1868G>A c.(1867-1869)CGC>CAC p.R623H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R623H NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 623 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCCGTTCCGCGTGGGGCTG 0.642 9 110 --- --- --- --- PASS UNC5A 90249 broad.mit.edu 37 5 176305332 176305332 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr5:176305332C>T uc003mey.2 + 12 2149 c.1957C>T c.(1957-1959)CGC>TGC p.R653C NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 653 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCACAACCTGCGCCTATCCAT 0.627 10 55 --- --- --- --- PASS TIAM2 26230 broad.mit.edu 37 6 155577880 155577880 + Missense_Mutation SNP G T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr6:155577880G>T uc003qqb.2 + 29 6004 c.4731G>T c.(4729-4731)CAG>CAT p.Q1577H TIAM2_uc003qqe.2_Missense_Mutation_p.Q1577H|TIAM2_uc010kjj.2_Missense_Mutation_p.Q1139H|TIAM2_uc003qqf.2_Missense_Mutation_p.Q953H|TIAM2_uc011efl.1_Missense_Mutation_p.Q921H|TIAM2_uc003qqg.2_Missense_Mutation_p.Q889H|TIAM2_uc003qqh.2_Missense_Mutation_p.Q502H|uc003qqi.1_5'Flank NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1577 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ACCACCGTCAGACTGTGAAGC 0.537 16 49 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129122858 129122858 + Missense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr7:129122858G>A uc011koy.1 + 20 2265 c.2225G>A c.(2224-2226)CGC>CAC p.R742H FAM40B_uc003vow.2_Missense_Mutation_p.R742H|FAM40B_uc011koz.1_Missense_Mutation_p.R234H NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 742 0 GTGCGTCACCGCATGAACGAT 0.448 4 67 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138601663 138601663 + Silent SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr7:138601663G>A uc011kql.1 - 2 2758 c.2709C>T c.(2707-2709)GAC>GAT p.D903D KIAA1549_uc003vuk.3_Silent_p.D853D|KIAA1549_uc011kqj.1_Silent_p.D903D NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 903 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GACTTGCGGCGTCACCCATCA 0.622 O BRAF pilocytic astrocytoma 5 25 --- --- --- --- PASS ATP6V1H 51606 broad.mit.edu 37 8 54682288 54682288 + Nonsense_Mutation SNP G C C rs113474015 TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr8:54682288G>C uc003xrl.2 - 11 1217 c.1065C>G c.(1063-1065)TAC>TAG p.Y355* ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.Y315*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.Y355*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.Y337*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.Y275*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.Y291* NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 355 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) GTTCTGAACTGTATTCATCAA 0.313 11 46 --- --- --- --- PASS HAS2 3037 broad.mit.edu 37 8 122641065 122641065 + Silent SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr8:122641065C>T uc003yph.2 - 2 1054 c.516G>A c.(514-516)ACG>ACA p.T172T NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 172 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AGACCAATTGCGTTACGTGTT 0.458 38 327 --- --- --- --- PASS CYP11B2 1585 broad.mit.edu 37 8 143999120 143999120 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr8:143999120C>T uc003yxk.1 - 1 140 c.137G>A c.(136-138)GGC>GAC p.G46D NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 46 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CCACCTGTTGCCTGGATGCTG 0.647 Familial_Hyperaldosteronism_type_I 11 93 --- --- --- --- PASS KIAA2026 158358 broad.mit.edu 37 9 5988344 5988344 + Splice_Site SNP C G G TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr9:5988344C>G uc003zjq.3 - 2 1010 c.794_splice c.e2+1 p.R265_splice NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TTAACATTTACCTTTTTTCTT 0.353 3 52 --- --- --- --- PASS BNC2 54796 broad.mit.edu 37 9 16419078 16419078 + Missense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr9:16419078C>A uc003zml.2 - 7 3349 c.3209G>T c.(3208-3210)TGC>TTC p.C1070F BNC2_uc011lmw.1_Missense_Mutation_p.C975F|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.C857F NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 1070 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CATCATATTGCAACCTGGGAC 0.433 103 45 --- --- --- --- PASS MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A G G TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr9:20414343A>G uc003zoe.2 - 5 760 c.501T>C c.(499-501)AGT>AGC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.139 T MLL ALL 3 35 --- --- --- --- PASS SYK 6850 broad.mit.edu 37 9 93639979 93639979 + Silent SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr9:93639979C>T uc004aqz.2 + 10 1513 c.1308C>T c.(1306-1308)ATC>ATT p.I436I SYK_uc004ara.2_Silent_p.I413I|SYK_uc004arb.2_Silent_p.I413I|SYK_uc004arc.2_Silent_p.I436I|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 436 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 TGCGGATGATCGGGATATGCG 0.502 T ETV6|ITK MDS|peripheral T-cell lymphoma 14 77 --- --- --- --- PASS HSPA5 3309 broad.mit.edu 37 9 128001281 128001281 + Missense_Mutation SNP A G G TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr9:128001281A>G uc004bpn.2 - 5 1191 c.935T>C c.(934-936)TTC>TCC p.F312S NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 312 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) TCCTTCATAGAAGGACTCAAT 0.458 Prostate(1;0.17) 21 59 --- --- --- --- PASS OBP2A 29991 broad.mit.edu 37 9 138439807 138439807 + Missense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr9:138439807G>A uc004cgb.2 + 4 410 c.368G>A c.(367-369)CGC>CAC p.R123H OBP2A_uc004cgc.2_Missense_Mutation_p.R123H|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Silent_p.A78A NM_014582 NP_055397 Q9NY56 OBP2A_HUMAN odorant binding protein 2A precursor 123 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GGGGGCCTGCGCTACATGGGA 0.617 9 45 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75276561 75276561 + Missense_Mutation SNP A G G TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr10:75276561A>G uc001juo.2 - 18 3640 c.3623T>C c.(3622-3624)CTT>CCT p.L1208P USP54_uc010qkk.1_Missense_Mutation_p.L390P|USP54_uc001juk.2_Missense_Mutation_p.L296P|USP54_uc001jul.2_Missense_Mutation_p.L296P|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1208 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) GTTTAAGGCAAGAGAAGAATG 0.522 25 181 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75286428 75286428 + Missense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr10:75286428C>A uc001juo.2 - 14 2188 c.2171G>T c.(2170-2172)TGG>TTG p.W724L USP54_uc010qkk.1_5'Flank|USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.W724L NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 724 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) ACTCTTTGTCCAGCCACCCAT 0.517 4 116 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106927088 106927088 + Missense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr10:106927088C>A uc001kyi.1 + 13 2109 c.1882C>A c.(1882-1884)CTG>ATG p.L628M NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 628 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACACACACCTCTGCCAGTCAG 0.423 4 89 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1264911 1264911 + Silent SNP T C C TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr11:1264911T>C uc009ycr.1 + 48 8841 c.8715T>C c.(8713-8715)TCT>TCC p.S2905S MUC5B_uc001ltb.2_Silent_p.S2270S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2267 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCCCTTCTCCAGGGACGA 0.677 3 80 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55653687 55653687 + Missense_Mutation SNP G T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr11:55653687G>T uc010rip.1 + 3 592 c.500G>T c.(499-501)TGC>TTC p.C167F SPRYD5_uc010riq.1_Missense_Mutation_p.C24F NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 167 intracellular zinc ion binding 0 all_epithelial(135;0.226) AGAACCAGATGCTGGAAGGTT 0.398 5 59 --- --- --- --- PASS PAK1 5058 broad.mit.edu 37 11 77047173 77047173 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr11:77047173C>T uc001oyh.3 - 13 1904 c.1371G>A c.(1369-1371)ATG>ATA p.M457I PAK1_uc010rso.1_Missense_Mutation_p.M359I|PAK1_uc001oyg.3_Missense_Mutation_p.M457I|PAK1_uc001oyi.1_Missense_Mutation_p.M457I|PAK1_uc010rsn.1_Missense_Mutation_p.M170I NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 457 Protein kinase. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) CCCCTTCAATCATTTCGATGG 0.498 9 100 --- --- --- --- PASS CASP5 838 broad.mit.edu 37 11 104871149 104871149 + Missense_Mutation SNP A G G TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr11:104871149A>G uc010rva.1 - 6 823 c.791T>C c.(790-792)CTC>CCC p.L264P CASP5_uc010ruz.1_Missense_Mutation_p.L277P|CASP5_uc010rvb.1_Missense_Mutation_p.L206P|CASP5_uc010rvc.1_Missense_Mutation_p.L122P|CASP5_uc009yxh.2_Missense_Mutation_p.L46P|CASP5_uc010rvd.1_Missense_Mutation_p.L46P NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 264 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) ATGAGACATGAGTACCAAGAA 0.458 3 106 --- --- --- --- PASS NRIP2 83714 broad.mit.edu 37 12 2939920 2939920 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr12:2939920C>T uc001qlc.2 - 2 521 c.449G>A c.(448-450)AGG>AAG p.R150K NRIP2_uc010sed.1_Missense_Mutation_p.R150K NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 150 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GCTGGTCTTCCTCCTGCTCTC 0.572 11 40 --- --- --- --- PASS ETNK1 55500 broad.mit.edu 37 12 22812066 22812066 + Missense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr12:22812066G>A uc001rft.2 + 3 824 c.802G>A c.(802-804)GCA>ACA p.A268T ETNK1_uc009ziz.2_Missense_Mutation_p.A268T NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A 268 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 CACAGGATTTGCAGATGAAGA 0.328 9 66 --- --- --- --- PASS ETNK1 55500 broad.mit.edu 37 12 22812075 22812075 + Missense_Mutation SNP G C C TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr12:22812075G>C uc001rft.2 + 3 833 c.811G>C c.(811-813)GAC>CAC p.D271H ETNK1_uc009ziz.2_Missense_Mutation_p.D271H NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A 271 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 TGCAGATGAAGACATTAATAA 0.328 10 62 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84455475 84455475 + Silent SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr13:84455475C>T uc001vlk.2 - 1 1054 c.168G>A c.(166-168)CCG>CCA p.P56P NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 56 LRRNT.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACTGGGAAGTCGGGGCAGTGA 0.438 14 89 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23890182 23890182 + Missense_Mutation SNP C G G TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr14:23890182C>G uc001wjx.2 - 26 3427 c.3321G>C c.(3319-3321)AAG>AAC p.K1107N MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1107 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCTCCTTGAGCTTCTTCTGCA 0.582 15 83 --- --- --- --- PASS PLEKHH1 57475 broad.mit.edu 37 14 68050582 68050582 + Missense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr14:68050582C>A uc001xjl.1 + 25 3693 c.3551C>A c.(3550-3552)GCC>GAC p.A1184D PLEKHH1_uc010tsw.1_Missense_Mutation_p.A752D|PLEKHH1_uc001xjn.1_Missense_Mutation_p.A699D|PLEKHH1_uc010tsx.1_Missense_Mutation_p.A49D|PLEKHH1_uc001xjo.1_Missense_Mutation_p.A49D|PLEKHH1_uc001xjp.1_Missense_Mutation_p.A49D NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 1184 FERM. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGACATGGGGCCCCCGCTGAA 0.607 OREG0022749 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 31 --- --- --- --- PASS UBR7 55148 broad.mit.edu 37 14 93677049 93677049 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr14:93677049C>T uc001ybm.3 + 3 576 c.340C>T c.(340-342)CTT>TTT p.L114F UBR7_uc001ybn.3_Missense_Mutation_p.L38F|UBR7_uc010auq.2_5'UTR NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 114 UBR-type. ubiquitin-protein ligase activity|zinc ion binding 0 ATGCAAATTACTTCCTGTAAG 0.289 4 22 --- --- --- --- PASS SERPINA13 388007 broad.mit.edu 37 14 95107688 95107688 + Missense_Mutation SNP G T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr14:95107688G>T uc001ydt.2 + 2 293 c.205G>T c.(205-207)GTG>TTG p.V69L NR_015340 RecName: Full=Serpin A13; Flags: Precursor; lung(1)|skin(1) 2 GCTGGTCACTGTGCTCATGGC 0.587 6 36 --- --- --- --- PASS MYLPF 29895 broad.mit.edu 37 16 30387745 30387745 + Silent SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr16:30387745C>A uc002dxv.1 + 4 230 c.174C>A c.(172-174)GGC>GGA p.G58G NM_013292 NP_037424 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast 58 EF-hand 1. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle 0 Colorectal(24;0.193) CCCCTCCAGGCCGCCTCAATG 0.507 7 70 --- --- --- --- PASS PDP2 57546 broad.mit.edu 37 16 66918200 66918200 + Missense_Mutation SNP G T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr16:66918200G>T uc002eqk.1 + 2 175 c.13G>T c.(13-15)GTG>TTG p.V5L NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 5 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GTCAAGTACTGTGTCCTACTG 0.328 9 148 --- --- --- --- PASS CES8 283848 broad.mit.edu 37 16 67039259 67039259 + Missense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr16:67039259C>A uc002eqv.2 + 10 1240 c.1197C>A c.(1195-1197)TTC>TTA p.F399L CES8_uc010vix.1_Missense_Mutation_p.F426L|CES8_uc002eqw.2_Missense_Mutation_p.F399L|CES8_uc002eqy.2_Missense_Mutation_p.F328L|CES8_uc002eqx.2_Missense_Mutation_p.F232L|CES8_uc010viy.1_Missense_Mutation_p.F332L|CES8_uc010viz.1_Missense_Mutation_p.F328L|CES8_uc002eqz.2_5'Flank NM_173815 NP_776176 Q5XG92 EST4A_HUMAN carboxylesterase 8 (putative) 426 extracellular region carboxylesterase activity 0 ATGCCACTTTCGTGTATGCCA 0.532 4 69 --- --- --- --- PASS LDHD 197257 broad.mit.edu 37 16 75146331 75146331 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr16:75146331C>T uc002fdm.2 - 11 1494 c.1447G>A c.(1447-1449)GTG>ATG p.V483M LDHD_uc002fdn.2_Missense_Mutation_p.V460M NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 483 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 TCCACGCCCACGGCGCCCACC 0.662 4 36 --- --- --- --- PASS MNT 4335 broad.mit.edu 37 17 2298341 2298341 + Missense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr17:2298341C>A uc002fur.2 - 2 733 c.481G>T c.(481-483)GGC>TGC p.G161C NM_020310 NP_064706 Q99583 MNT_HUMAN MAX binding protein 161 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity skin(1) 1 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) TTGGGGCTGCCATTGGGTGGA 0.697 3 16 --- --- --- --- PASS TOP3A 7156 broad.mit.edu 37 17 18210214 18210214 + Silent SNP T A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr17:18210214T>A uc002gsx.1 - 4 610 c.381A>T c.(379-381)GTA>GTT p.V127V TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.V25V|TOP3A_uc010cqa.1_RNA NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 127 Toprim. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 CCTTGATGTCTACAAAATTCT 0.408 6 44 --- --- --- --- PASS KIAA0100 9703 broad.mit.edu 37 17 26964040 26964040 + Silent SNP T C C TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr17:26964040T>C uc002hbu.2 - 15 2019 c.1920A>G c.(1918-1920)CCA>CCG p.P640P NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 640 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GGCTGAGCACTGGGGTAGGGA 0.547 9 98 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29665757 29665757 + Nonsense_Mutation SNP C A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr17:29665757C>A uc002hgg.2 + 46 7188 c.6855C>A c.(6853-6855)TAC>TAA p.Y2285* NF1_uc002hgh.2_Nonsense_Mutation_p.Y2264*|NF1_uc010cso.2_Nonsense_Mutation_p.Y473*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2285 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.Y2285fs*5(4)|p.Y2285*(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTGACACTTACAACAGTCAAG 0.308 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 20 117 --- --- --- --- PASS TMEM106A 113277 broad.mit.edu 37 17 41368482 41368482 + Silent SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr17:41368482C>T uc002idn.1 + 6 681 c.444C>T c.(442-444)ATC>ATT p.I148I TMEM106A_uc010why.1_Silent_p.I100I|TMEM106A_uc010cze.1_Silent_p.I148I|TMEM106A_uc010whz.1_Intron NM_145041 NP_659478 Q96A25 T106A_HUMAN transmembrane protein 106A 148 integral to membrane 0 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) TCTTAAACATCTCCAATGGCA 0.517 50 347 --- --- --- --- PASS CASKIN2 57513 broad.mit.edu 37 17 73497987 73497987 + Missense_Mutation SNP G T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr17:73497987G>T uc002joc.2 - 18 3718 c.3168C>A c.(3166-3168)AGC>AGA p.S1056R CASKIN2_uc010wsc.1_Missense_Mutation_p.S974R NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 1056 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCATGGCGGGGCTGGGAGCAA 0.677 38 121 --- --- --- --- PASS C19orf26 255057 broad.mit.edu 37 19 1231080 1231080 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr19:1231080C>T uc002lrm.2 - 9 1431 c.1156G>A c.(1156-1158)GGT>AGT p.G386S NM_152769 NP_689982 Q8N350 DOS_HUMAN downstream of Stk11 414 integral to membrane 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCTAGCACCTCCATCTACT 0.721 HNSCC(14;0.022) 8 23 --- --- --- --- PASS TSSK6 83983 broad.mit.edu 37 19 19625717 19625717 + Missense_Mutation SNP A C C TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr19:19625717A>C uc002nmr.2 - 1 753 c.520T>G c.(520-522)TCA>GCA p.S174A TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 174 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 TAGGCGGCTGAGCCGCAGTAG 0.662 5 22 --- --- --- --- PASS ZNF473 25888 broad.mit.edu 37 19 50549917 50549917 + Silent SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr19:50549917C>T uc002prn.2 + 5 2454 c.2217C>T c.(2215-2217)TTC>TTT p.F739F ZNF473_uc002prm.2_Silent_p.F739F|ZNF473_uc010ybo.1_Silent_p.F727F NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 739 C2H2-type 16. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GGAAGGCCTTCGGCCTGAGTG 0.512 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 113 --- --- --- --- PASS ACTR5 79913 broad.mit.edu 37 20 37400216 37400216 + Silent SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr20:37400216G>A uc002xjd.2 + 9 1606 c.1581G>A c.(1579-1581)TCG>TCA p.S527S NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 527 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) AACTTGCCTCGAACCCTGTGC 0.507 30 98 --- --- --- --- PASS KRTAP10-10 353333 broad.mit.edu 37 21 46057497 46057497 + Missense_Mutation SNP A G G rs377408 TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr21:46057497A>G uc002zfq.2 + 1 225 c.163A>G c.(163-165)ACG>GCG p.T55A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 55 3.|15 X 5 AA repeats of C-C-X(3). keratin filament 0 CTGCTGCCAGACGGCCTGTGA 0.662 4 79 --- --- --- --- PASS GNB1L 54584 broad.mit.edu 37 22 19799876 19799876 + Missense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr22:19799876G>A uc002zqe.1 - 4 743 c.349C>T c.(349-351)CGG>TGG p.R117W GNB1L_uc002zqd.1_5'UTR|GNB1L_uc002zqf.1_Missense_Mutation_p.R117W NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 117 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) ATGCTGCTCCGGCAGAAGCCC 0.697 10 42 --- --- --- --- PASS KLHL22 84861 broad.mit.edu 37 22 20819559 20819559 + Nonsense_Mutation SNP G T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr22:20819559G>T uc002zsl.1 - 4 807 c.698C>A c.(697-699)TCG>TAG p.S233* KLHL22_uc011ahr.1_Nonsense_Mutation_p.S90*|KLHL22_uc002zsm.1_Nonsense_Mutation_p.S233* NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 233 cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CTCGTGCAGCGAGATCTGGTC 0.602 3 34 --- --- --- --- PASS GNAZ 2781 broad.mit.edu 37 22 23437925 23437925 + Missense_Mutation SNP C T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr22:23437925C>T uc002zwu.1 + 2 580 c.43C>T c.(43-45)CGG>TGG p.R15W RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 15 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) AGCAGCCCGGCGGTCCCGGAG 0.637 8 43 --- --- --- --- PASS SLC5A4 6527 broad.mit.edu 37 22 32614643 32614643 + Missense_Mutation SNP G T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr22:32614643G>T uc003ami.2 - 15 1840 c.1838C>A c.(1837-1839)CCC>CAC p.P613H NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 613 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 GGTTAGCTTGGGTCCCTTCTG 0.483 5 150 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138687052 138687052 + Missense_Mutation SNP G A A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chrX:138687052G>A uc004fau.2 - 14 1943 c.1649C>T c.(1648-1650)GCA>GTA p.A550V MCF2_uc004fav.2_Missense_Mutation_p.A566V|MCF2_uc011mwl.1_Missense_Mutation_p.A527V|MCF2_uc010nsh.1_Missense_Mutation_p.A550V|MCF2_uc011mwm.1_Missense_Mutation_p.A511V|MCF2_uc011mwn.1_Missense_Mutation_p.A695V|MCF2_uc004faw.2_Missense_Mutation_p.A610V|MCF2_uc011mwo.1_Missense_Mutation_p.A626V NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 550 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) ATATATTTCTGCCATGTTTCC 0.308 14 152 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154189424 154189424 + Missense_Mutation SNP G T T TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chrX:154189424G>T uc004fmt.2 - 10 1634 c.1463C>A c.(1462-1464)GCA>GAA p.A488E NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 488 F5/8 type A 2.|Plastocyanin-like 3. A -> G (in HEMA; moderate). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TGGTCTGCTTGCTTGATTCTT 0.363 10 58 --- --- --- --- PASS KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - GCTGCT GCTGCT rs3831942 TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr1:154842199_154842200insGCTGCT uc001ffp.2 - 1 555_556 c.241_242insAGCAGC c.(241-243)CCA>CAGCAGCCA p.80_81insQQ KCNN3_uc009wox.1_In_Frame_Ins_p.80_81insQQ NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 80_86 integral to membrane calmodulin binding lung(1) 1 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) GGGATGCGGTGgctgctgctgc 0.347 5 3 --- --- --- --- KIF26A 26153 broad.mit.edu 37 14 104638211 104638211 + Frame_Shift_Del DEL C - - TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 2ba53bf0-a4e1-4b46-b258-610522aac7ee 4ced20e8-5370-451e-be81-d6a1f6b97a33 g.chr14:104638211delC uc001yos.3 + 6 1265 c.1265delC c.(1264-1266)GCCfs p.A422fs NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 422 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CGGCGAGCCGCCACTGCTGCA 0.682 4 2 --- --- --- ---