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 ASAP3 55616 broad.mit.edu 37 1 23763702 23763702 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr1:23763702C>T uc001bha.2 - 14 1387 c.1263G>A c.(1261-1263)CCG>CCA p.P421P ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_5'Flank|ASAP3_uc010odz.1_Silent_p.P290P|ASAP3_uc010oea.1_Silent_p.P412P|ASAP3_uc001bhb.2_5'UTR NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 421 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 TGAGGTCGTGCGGCTCCCCAT 0.701000 COL9A2 1298 broad.mit.edu 37 1 40775783 40775783 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr1:40775783C>T uc001cfh.1 - 15 862 c.792G>A c.(790-792)CCG>CCA p.P264P COL9A2_uc001cfi.1_Silent_p.P83P NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 264 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) AGAGGCTTACCGGTGGCCCAG 0.612000 SMG5 23381 broad.mit.edu 37 1 156235937 156235937 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr1:156235937G>A uc001foc.3 - 12 1639 c.1490C>T c.(1489-1491)TCT>TTT p.S497F SMG5_uc009wrv.2_5'UTR NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 497 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) ACTCTTGTCAGAGCCACTGTC 0.532000 SPTA1 6708 broad.mit.edu 37 1 158651377 158651377 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr1:158651377G>A uc001fst.1 - 4 670 c.471C>T c.(469-471)GCC>GCT p.A157A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 157 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGAACTTCAGGGCCCGCAGCA 0.527000 OBSCN 84033 broad.mit.edu 37 1 228479801 228479801 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr1:228479801C>T uc009xez.1 + 39 10586 c.10542C>T c.(10540-10542)GAC>GAT p.D3514D OBSCN_uc001hsn.2_Silent_p.D3514D|OBSCN_uc001hsq.1_Silent_p.D770D NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3514 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCATGGCGGACGCCGGGGAGT 0.622000 PGR 5241 broad.mit.edu 37 11 100999115 100999115 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr11:100999115G>A uc001pgh.2 - 1 1430 c.687C>T c.(685-687)TCC>TCT p.S229S PGR_uc001pgi.2_Silent_p.S229S|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 229 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CAGACTCCTCGGACTCAGAGC 0.721000 HOXC11 3227 broad.mit.edu 37 12 54367430 54367430 + Silent SNP C C T rs139414813 TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr12:54367430C>T uc001sem.2 + 1 521 c.405C>T c.(403-405)GCC>GCT p.A135A NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 135 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CAACCCCCGCCGGCTTCTACT 0.657000 T NUP98 AML GTSF1 121355 broad.mit.edu 37 12 54858935 54858935 + Silent SNP A A G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr12:54858935A>G uc001sgb.2 - 3 119 c.33T>C c.(31-33)CCT>CCC p.P11P NM_144594 NP_653195 Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 11 metal ion binding 0 Myeloproliferative disorder(1001;0.00452) ATAGCTTCTCAGGGTCCAGGG 0.428000 ATP2A2 488 broad.mit.edu 37 12 110783130 110783130 + Missense_Mutation SNP C C A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr12:110783130C>A uc001tqk.3 + 18 3247 c.2684C>A c.(2683-2685)CCG>CAG p.P895Q ATP2A2_uc001tql.3_Missense_Mutation_p.P895Q|ATP2A2_uc010sxy.1_Missense_Mutation_p.P868Q|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 895 Lumenal (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 TCCCCATACCCGATGACAATG 0.473000 DDX54 79039 broad.mit.edu 37 12 113603453 113603453 + Missense_Mutation SNP C C T rs58401684 byFrequency TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr12:113603453C>T uc001tup.2 - 14 1743 c.1715G>A c.(1714-1716)CGG>CAG p.R572Q DDX54_uc001tuq.3_Missense_Mutation_p.R572Q NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 572 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 ACTCACCGCCCGGGAGCGGTA 0.468000 FBXL3 26224 broad.mit.edu 37 13 77595766 77595766 + Missense_Mutation SNP C C A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr13:77595766C>A uc001vkd.2 - 2 601 c.230G>T c.(229-231)AGA>ATA p.R77I NM_012158 NP_036290 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 77 F-box. regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCAAAACATCTCCACAAGTC 0.393000 CEBPE 1053 broad.mit.edu 37 14 23587828 23587828 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr14:23587828G>A uc001wiv.1 - 1 647 c.473C>T c.(472-474)ACT>ATT p.T158I NM_001805 NP_001796 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein epsilon 158 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TGCTGCCAGAGTTGGGGGCAG 0.682000 FOXG1 2290 broad.mit.edu 37 14 29237757 29237757 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr14:29237757G>A uc001wqe.2 + 1 1471 c.1272G>A c.(1270-1272)CCG>CCA p.P424P NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 424 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCCCGCACCCGTCAATGACTT 0.657000 SIPA1L1 26037 broad.mit.edu 37 14 72055091 72055091 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr14:72055091C>T uc001xms.2 + 2 850 c.502C>T c.(502-504)CGC>TGC p.R168C SIPA1L1_uc001xmt.2_Missense_Mutation_p.R168C|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R168C|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R168C NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 168 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AAAAGCTCTTCGCAGAATACG 0.468000 DUOX1 53905 broad.mit.edu 37 15 45433241 45433241 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr15:45433241G>A uc001zus.1 + 14 1884 c.1538G>A c.(1537-1539)CGC>CAC p.R513H DUOX1_uc001zut.1_Missense_Mutation_p.R513H|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 513 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GATGGTGACCGCTACTGGTTT 0.617000 ATP8B4 79895 broad.mit.edu 37 15 50189583 50189583 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr15:50189583C>T uc001zxu.2 - 23 2745 c.2603G>A c.(2602-2604)CGA>CAA p.R868Q ATP8B4_uc010ber.2_Missense_Mutation_p.R741Q|ATP8B4_uc010ufd.1_Missense_Mutation_p.R678Q|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.R166Q NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 868 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTTGCACATTCGGAAATAAGA 0.403000 VPS13C 54832 broad.mit.edu 37 15 62237921 62237921 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr15:62237921G>A uc002agz.2 - 45 5215 c.5141C>T c.(5140-5142)TCT>TTT p.S1714F VPS13C_uc002aha.2_Missense_Mutation_p.S1671F|VPS13C_uc002ahb.1_Missense_Mutation_p.S1714F|VPS13C_uc002ahc.1_Missense_Mutation_p.S1671F NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1714 protein localization ovary(2) 2 TACCAAAAGAGACATGAAGAA 0.323000 IGDCC3 9543 broad.mit.edu 37 15 65621886 65621886 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr15:65621886G>A uc002aos.2 - 13 2299 c.2047C>T c.(2047-2049)CCC>TCC p.P683S IGDCC3_uc002aor.1_5'UTR NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 683 Cytoplasmic (Potential). ovary(3) 3 TGGCTCCGGGGACCCTGTGGA 0.597000 ISLR2 57611 broad.mit.edu 37 15 74425927 74425927 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr15:74425927G>A uc002axd.2 + 4 1601 c.832G>A c.(832-834)GGT>AGT p.G278S ISLR2_uc002axe.2_Missense_Mutation_p.G278S|ISLR2_uc010bjg.2_Missense_Mutation_p.G278S|ISLR2_uc010bjf.2_Missense_Mutation_p.G278S NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 278 Ig-like.|Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 TCAGATCCCCGGTGGCACCGT 0.468000 DNAJA2 10294 broad.mit.edu 37 16 47005450 47005450 + Nonsense_Mutation SNP G G C TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr16:47005450G>C uc002eeo.2 - 3 315 c.173C>G c.(172-174)TCA>TGA p.S58* DNAJA2_uc002eep.2_Translation_Start_Site NM_005880 NP_005871 O60884 DNJA2_HUMAN DnaJ subfamily A member 2 58 J. positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding lung(1) 1 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) CTCAGGATTTGATAGTACTTC 0.383000 SPG7 6687 broad.mit.edu 37 16 89611154 89611154 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr16:89611154G>A uc002fnj.2 + 10 1444 c.1423G>A c.(1423-1425)GTC>ATC p.V475I SPG7_uc002fnk.1_RNA NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 475 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GGACCGGCACGTCTTCATTGA 0.627000 PELP1 27043 broad.mit.edu 37 17 4576196 4576196 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr17:4576196G>A uc002fyi.3 - 16 2316 c.2090C>T c.(2089-2091)TCG>TTG p.S697L PELP1_uc010vsf.1_Missense_Mutation_p.S550L NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 697 Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 AGGGCGTGCCGAGGGCACAGG 0.677000 TRIM16 10626 broad.mit.edu 37 17 15539380 15539380 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr17:15539380C>T uc002gox.2 - 6 1376 c.819G>A c.(817-819)GCG>GCA p.A273A TRIM16_uc002gor.1_Silent_p.A273A|TRIM16_uc002gow.2_Silent_p.A57A|TRIM16_uc002goy.2_Silent_p.A143A NM_006470 NP_006461 O95361 TRI16_HUMAN tripartite motif-containing 16 273 Potential. histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) TGCTGATGGCCGCCATCCTCT 0.607000 DNAH17 8632 broad.mit.edu 37 17 76457765 76457765 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr17:76457765G>A uc010dhp.1 - 3 422 c.200C>T c.(199-201)GCG>GTG p.A67V DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTCCTGAATCGCCAACTTGGC 0.577000 LAMA1 284217 broad.mit.edu 37 18 6974963 6974963 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr18:6974963G>A uc002knm.2 - 46 6656 c.6562C>T c.(6562-6564)CGC>TGC p.R2188C LAMA1_uc010wzj.1_Missense_Mutation_p.R1664C NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2188 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACTCCAAGCGTGTGGACCCG 0.532000 FBN3 84467 broad.mit.edu 37 19 8156417 8156417 + Missense_Mutation SNP C C G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr19:8156417C>G uc002mjf.2 - 47 5984 c.5963G>C c.(5962-5964)AGC>ACC p.S1988T FBN3_uc002mje.2_5'Flank NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1988 EGF-like 32; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCTCCCAGGGCTGTTGGTACA 0.592000 C19orf57 79173 broad.mit.edu 37 19 14000238 14000238 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr19:14000238C>T uc002mxl.1 - 6 1490 c.1431G>A c.(1429-1431)CCG>CCA p.P477P C19orf57_uc002mxk.1_Silent_p.P359P|C19orf57_uc002mxm.1_Intron NM_024323 NP_077299 Q0VDD7 CS057_HUMAN hypothetical protein LOC79173 477 multicellular organismal development protein binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CAGAGGCTTGCGGGGACACAC 0.597000 PTPRH 5794 broad.mit.edu 37 19 55697282 55697282 + Missense_Mutation SNP A A G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr19:55697282A>G uc002qjq.2 - 17 2922 c.2849T>C c.(2848-2850)GTA>GCA p.V950A PTPRH_uc010esv.2_Missense_Mutation_p.V772A NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 950 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TTCCTCACCTACCAGGGTTAC 0.627000 FIZ1 84922 broad.mit.edu 37 19 56108964 56108964 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr19:56108964C>T uc002qli.3 - 2 358 c.268G>A c.(268-270)GAC>AAC p.D90N FIZ1_uc002qlj.3_Missense_Mutation_p.D90N|ZNF524_uc002qlk.1_5'Flank NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 90 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CCGGTGGAGTCGCGGAACCCC 0.682000 ZNF470 388566 broad.mit.edu 37 19 57088681 57088681 + Missense_Mutation SNP A A G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr19:57088681A>G uc002qnl.3 + 6 1560 c.884A>G c.(883-885)CAG>CGG p.Q295R ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 295 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) GCCTTCAGCCAGAATGCTCAT 0.448000 LRP1B 53353 broad.mit.edu 37 2 141299517 141299517 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr2:141299517C>T uc002tvj.1 - 44 8190 c.7218G>A c.(7216-7218)GGG>GGA p.G2406G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2406 Extracellular (Potential).|LDL-receptor class B 26. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAGGAAAGTCCCTGGCCCAG 0.363000 TSP Lung(27;0.18) NEB 4703 broad.mit.edu 37 2 152486101 152486101 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr2:152486101G>A uc010fnx.2 - 64 9245 c.9054C>T c.(9052-9054)GAC>GAT p.D3018D NEB_uc002txu.2_Silent_p.D365D NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3018 Nebulin 82. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGGGGATGGCGTCACTTCGCA 0.458000 NR4A2 4929 broad.mit.edu 37 2 157186116 157186116 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr2:157186116C>T uc002tyz.3 - 3 1005 c.583G>A c.(583-585)GAC>AAC p.D195N NR4A2_uc002tyx.3_Missense_Mutation_p.D132N|NR4A2_uc010zcf.1_Missense_Mutation_p.D195N|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 195 Pro-rich. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 AGGGGCCCGTCGAAGCGCATC 0.657000 SERINC3 10955 broad.mit.edu 37 20 43135528 43135528 + Missense_Mutation SNP G G C TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr20:43135528G>C uc002xme.2 - 6 857 c.723C>G c.(721-723)ATC>ATG p.I241M SERINC3_uc002xmf.1_Missense_Mutation_p.I241M|SERINC3_uc010ggs.1_Missense_Mutation_p.I234M|SERINC3_uc010zwp.1_Missense_Mutation_p.I186M NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 241 Helical; (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GGTTAATACTGATGAAGAACT 0.393000 BCAS1 8537 broad.mit.edu 37 20 52645436 52645436 + Missense_Mutation SNP G G T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr20:52645436G>T uc002xws.2 - 4 556 c.218C>A c.(217-219)GCG>GAG p.A73E BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.A73E|BCAS1_uc010gil.1_Missense_Mutation_p.A73E|BCAS1_uc010zzc.1_5'UTR NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 73 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GTTGGCATCCGCAACAGCACT 0.493000 ZNF831 128611 broad.mit.edu 37 20 57767259 57767259 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr20:57767259C>T uc002yan.2 + 1 1185 c.1185C>T c.(1183-1185)GCC>GCT p.A395A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 395 Potential. intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) cgcgAGAAGCCGGCCTGGAGC 0.502000 TRIOBP 11078 broad.mit.edu 37 22 38130723 38130723 + Nonsense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr22:38130723G>A uc003atr.2 + 9 4651 c.4380G>A c.(4378-4380)TGG>TGA p.W1460* TRIOBP_uc003atu.2_Nonsense_Mutation_p.W1288* NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1460 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GGGGCTGGTGGGGATGTGGAG 0.687000 XRCC6 2547 broad.mit.edu 37 22 42033616 42033616 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr22:42033616C>T uc003bao.1 + 6 664 c.594C>T c.(592-594)ATC>ATT p.I198I XRCC6_uc003bap.1_Silent_p.I157I|XRCC6_uc011apc.1_Silent_p.I148I|XRCC6_uc003baq.1_Silent_p.I198I|XRCC6_uc003bar.1_Silent_p.I198I|XRCC6_uc003bas.1_Silent_p.I148I NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 198 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 CAACAGGCATCTTCCTTGACT 0.418000 Direct_reversal_of_damage|NHEJ TRANK1 9881 broad.mit.edu 37 3 36869827 36869827 + Missense_Mutation SNP T T A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr3:36869827T>A uc003cgj.2 - 14 7369 c.7067A>T c.(7066-7068)GAC>GTC p.D2356V NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2906 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CTCACCAAAGTCTTCAACTTC 0.313000 SCN10A 6336 broad.mit.edu 37 3 38739967 38739967 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr3:38739967G>A uc003ciq.2 - 27 4744 c.4744C>T c.(4744-4746)CGC>TGC p.R1582C NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1582 IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTGAGGATGCGGCCAATTCGG 0.517000 KIAA1524 57650 broad.mit.edu 37 3 108273290 108273290 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr3:108273290C>T uc003dxb.3 - 18 2526 c.2257G>A c.(2257-2259)GAT>AAT p.D753N NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 753 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 TTCAGAGAATCACATGTGATC 0.303000 C4orf44 345222 broad.mit.edu 37 4 3251150 3251150 + Missense_Mutation SNP G G C TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr4:3251150G>C uc003ggs.2 + 1 384 c.201G>C c.(199-201)CAG>CAC p.Q67H C4orf44_uc003ggt.2_Missense_Mutation_p.Q67H NM_001042690 NP_001036155 Q6ZTZ1 CD044_HUMAN hypothetical protein LOC345222 isoform a 67 0 AGCTCAAGCAGACCAAGCGCA 0.632000 ADCY2 108 broad.mit.edu 37 5 7695884 7695884 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr5:7695884G>A uc003jdz.1 + 6 956 c.889G>A c.(889-891)GTT>ATT p.V297I ADCY2_uc011cmo.1_Missense_Mutation_p.V117I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 297 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CGCTGACATCGTTGGCTTTAC 0.408000 CDC5L 988 broad.mit.edu 37 6 44392169 44392169 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr6:44392169G>A uc003oxl.2 + 11 1677 c.1418G>A c.(1417-1419)CGA>CAA p.R473Q NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 473 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGAGAATCCCGAGAACATCTC 0.378000 LANCL2 55915 broad.mit.edu 37 7 55492979 55492979 + Silent SNP C C G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr7:55492979C>G uc003tqp.2 + 7 1619 c.1041C>G c.(1039-1041)GCC>GCG p.A347A NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 347 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) TGAAAGAGGCCATGGAGTGTA 0.468000 AKAP9 10142 broad.mit.edu 37 7 91682266 91682266 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr7:91682266C>T uc003ulg.2 + 22 5820 c.5595C>T c.(5593-5595)AGC>AGT p.S1865S AKAP9_uc003ulf.2_Silent_p.S1865S|AKAP9_uc003uli.2_Silent_p.S1488S NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1877 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTGAAACTAGCAGTCAGGTAA 0.368000 T BRAF papillary thyroid C7orf33 202865 broad.mit.edu 37 7 148311189 148311189 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr7:148311189C>T uc003wew.2 + 2 621 c.260C>T c.(259-261)TCA>TTA p.S87L NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 87 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GCTCCTGTATCAGCTCCCACC 0.493000 GPR124 25960 broad.mit.edu 37 8 37691340 37691340 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr8:37691340C>T uc003xkj.2 + 10 1794 c.1431C>T c.(1429-1431)GTC>GTT p.V477V GPR124_uc010lvy.2_Silent_p.V477V NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 477 Extracellular (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGGGTTATGTCGACCAGATCA 0.527000 NBN 4683 broad.mit.edu 37 8 90965531 90965531 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr8:90965531C>T uc003yej.1 - 11 1896 c.1786G>A c.(1786-1788)GAT>AAT p.D596N NBN_uc003yei.1_Missense_Mutation_p.D514N|NBN_uc011lgb.1_Missense_Mutation_p.D596N NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 596 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) GTTTCTATATCCATCCTTGGC 0.338000 Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome TLN1 7094 broad.mit.edu 37 9 35714789 35714789 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr9:35714789C>T uc003zxt.2 - 22 3193 c.2839G>A c.(2839-2841)GGC>AGC p.G947S NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 947 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGCTGGGGGCCGGCAGAGGCC 0.587000 ZNF658 26149 broad.mit.edu 37 9 40772474 40772474 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr9:40772474C>T uc004abs.2 - 5 2953 c.2801G>A c.(2800-2802)GGG>GAG p.G934E ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G934E NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGGTTTCTCCCCCGTATGAAC 0.438000 ZBTB43 23099 broad.mit.edu 37 9 129594921 129594921 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr9:129594921C>T uc004bql.2 + 3 406 c.133C>T c.(133-135)CGG>TGG p.R45W ZBTB43_uc010mxf.2_Missense_Mutation_p.R45W NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 45 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCACATTTTCCGGGCACACAA 0.473000 HCFC1 3054 broad.mit.edu 37 X 153225353 153225353 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chrX:153225353C>T uc004fjp.2 - 8 1872 c.1344G>A c.(1342-1344)CTG>CTA p.L448L NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 448 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGCCTGGGGCAGGAGCGTGA 0.672000 MUC6 4588 broad.mit.edu 37 11 1016198 1016200 + In_Frame_Del DEL AGA AGA - TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr11:1016198_1016200delAGA uc001lsw.2 - 31 6652_6654 c.6601_6603delTCT c.(6601-6603)TCTdel p.S2201del NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2201 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGCAGCTGGAGAAGAAGGAAAA 0.557 GRID2 2895 broad.mit.edu 37 4 94344114 94344114 + Frame_Shift_Del DEL T T - TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr4:94344114delT uc011cdt.1 + 10 1798 c.1540delT c.(1540-1542)TTTfs p.F514fs GRID2_uc011cdu.1_Frame_Shift_Del_p.F419fs NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 514 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGAACTTGTCTTTAAGGTAAG 0.373 ADH1C 126 broad.mit.edu 37 4 100268233 100268236 + Frame_Shift_Del DEL AGGA AGGA - TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr4:100268233_100268236delAGGA uc003huu.2 - 3 271_274 c.186_189delTCCT c.(184-189)CTTCCTfs p.L62fs NM_000669 NP_000660 P00326 ADH1G_HUMAN class I alcohol dehydrogenase, gamma subunit 62_63 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CTAAAATCACAGGAAGGGGGGTCA 0.485 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of BCL9L 283149 broad.mit.edu 37 11 118770652 118770653 + Frame_Shift_Ins INS - - G rs139987150 TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr11:118770651_118770652T>TG uc001pug.3 - 6 4345_4346 c.3380_3381A>CA c.(3379-3381)ccafs p.P1127fs BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 1127 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCGGTGGTGGTGGGGGGGGCAG 0.703 MBD6 114785 broad.mit.edu 37 12 57921732 57921733 + Frame_Shift_Ins INS - - G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d g.chr12:57921731_57921732T>TG uc001soj.1 + 8 2561_2562 c.2337_2338T>TG c.(2335-2340)cctgggfs p.P779fs MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 779 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 AGCTCCTCCCTGGGGGGGGAGC 0.629