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 NBPF10 100132406 broad.mit.edu 37 1 145324371 145324371 + Missense_Mutation SNP T T C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr1:145324371T>C uc021oul.1 + 27 3601 c.3566T>C c.(3565-3567)gTa>gCa p.V1189A NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 1189 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTGCTGGAGGTAGTAGCGCCT 0.498 USH2A 7399 broad.mit.edu 37 1 215820917 215820917 + Missense_Mutation SNP T T C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr1:215820917T>C uc001hku.1 - 66 15125 c.14738A>G c.(14737-14739)aAc>aGc p.N4913S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4913 Fibronectin type-III 34. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCCCACCTCGTTGTGTGCCAC 0.532 HNSCC(13;0.011) TAF1A 9015 broad.mit.edu 37 1 222761835 222761835 + Missense_Mutation SNP C C G TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr1:222761835C>G uc009xdz.2 - 1 280 c.71G>C c.(70-72)aGt>aCt p.S24T TAF1A_uc001hni.2_5'UTR|TAF1A_uc001hnj.3_Missense_Mutation_p.S24T|TAF1A_uc010pur.2_Missense_Mutation_p.S24T NM_001201536 NP_001188465 Q15573 TAF1A_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA. 24 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) TCCTGCACCACTGAGCACAGA 0.373 OR2L1P 26247 broad.mit.edu 37 1 248154337 248154337 + Nonsense_Mutation SNP T T A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr1:248154337T>A uc001idv.1 + 0 769 c.525T>A c.(523-525)taT>taA p.Y175* OR2L13_uc001ids.3_Intron Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA. lung(11) 11 CCTTTGCTTATACCTATCTAC 0.512 LGALS12 85329 broad.mit.edu 37 11 63273794 63273794 + Translation_Start_Site SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr11:63273794C>T uc001nxc.2 + 0 LGALS12_uc001nxa.2_5'UTR|LGALS12_uc001nxb.2_5'UTR|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank NM_001142535 NP_001136007 Q96DT0 LEG12_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 AGCATTAAAACGCTGCAGGTC 0.637 ARCN1 372 broad.mit.edu 37 11 118461139 118461139 + Missense_Mutation SNP T T A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr11:118461139T>A uc009zag.3 + 6 1227 c.1025T>A c.(1024-1026)aTc>aAc p.I342N ARCN1_uc001ptq.3_Missense_Mutation_p.I301N|ARCN1_uc010ryg.2_Missense_Mutation_p.I213N NM_001142281 NP_001135753 P48444 COPD_HUMAN Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA. 301 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CATGGCATGATCATGCTTAGG 0.393 KIF21A 55605 broad.mit.edu 37 12 39716483 39716483 + Missense_Mutation SNP T T C rs147620197 TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr12:39716483T>C uc001rly.3 - 26 4078 c.3658A>G c.(3658-3660)Aag>Gag p.K1220E KIF21A_uc001rlv.3_Missense_Mutation_p.K225E|KIF21A_uc001rlw.3_Missense_Mutation_p.K537E|KIF21A_uc001rlx.3_Missense_Mutation_p.K1207E|KIF21A_uc001rlz.3_Missense_Mutation_p.K1184E|KIF21A_uc010skl.2_Missense_Mutation_p.K1200E NM_001173464 NP_001166935 Q7Z4S6 KI21A_HUMAN Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA. 1220 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CTGCCTATCTTAGAAGGTAAG 0.398 F10 2159 broad.mit.edu 37 13 113803697 113803697 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr13:113803697C>T uc001vsx.3 + 7 1390 c.1333C>T c.(1333-1335)Cgt>Tgt p.R445C F10_uc001vsy.3_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 445 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGCTGTGCCCGTAAGGGGAA 0.627 CFL2 1073 broad.mit.edu 37 14 35182132 35182132 + Missense_Mutation SNP G G A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr14:35182132G>A uc001wsh.3 - 3 723 c.440C>T c.(439-441)tCg>tTg p.S147L CFL2_uc001wsg.3_Missense_Mutation_p.S147L|CFL2_uc010tpn.1_Missense_Mutation_p.S130L|CFL2_uc001wsi.3_Non-coding_Transcript|CFL2_uc001wsj.3_Non-coding_Transcript NM_138638 NP_001230574 Q9Y281 COF2_HUMAN Homo sapiens cofilin 2 (muscle) (CFL2), transcript variant 2, mRNA. 147 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding p.R146C(1) breast(3)|endometrium(2)|lung(3) 8 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) TCCAAGTGTCGAACGGTCCTT 0.338 NF1 4763 broad.mit.edu 37 17 29663349 29663349 + Splice_Site SNP A A G TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr17:29663349A>G uc002hgg.3 + 41 6390 c.6007_splice c.e41-2 p.I2003_splice NF1_uc002hgh.3_Splice_Site_p.I1982_splice|NF1_uc010cso.3_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 2003 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.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 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) TTCTTCAACTAGATTACAGAT 0.323 """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) MYOM1 8736 broad.mit.edu 37 18 3188890 3188890 + Silent SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr18:3188890C>T uc002klp.3 - 3 961 c.627G>A c.(625-627)acG>acA p.T209T MYOM1_uc002klq.3_Silent_p.T209T NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 209 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T209T(2) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCCTGGATGCCGTGGACTGCT 0.522 MUC16 94025 broad.mit.edu 37 19 9075072 9075072 + Missense_Mutation SNP G G A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr19:9075072G>A uc002mkp.3 - 2 12578 c.12374C>T c.(12373-12375)aCg>aTg p.T4125M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4127 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCTGAGTCGTAGCCAGTGG 0.502 YJEFN3 51079 broad.mit.edu 37 19 19645858 19645858 + Missense_Mutation SNP G G A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr19:19645858G>A uc002nmt.2 + 3 406 c.334G>A c.(334-336)Gct>Act p.A112T YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Missense_Mutation_p.A111T|YJEFN3_uc010ecf.2_Missense_Mutation_p.A62T|YJEFN3_uc002nmu.2_Non-coding_Transcript NM_198537 NP_940939 A6XGL0 YJEN3_HUMAN Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 112 YjeF N-terminal. NS(1)|breast(1)|lung(3) 5 CCCGTTGCCCGCTCTCTCCCG 0.647 RPSA 388524 broad.mit.edu 37 19 24010412 24010412 + Missense_Mutation SNP C C A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr19:24010412C>A uc002nrn.3 + 3 872 c.449C>A c.(448-450)aCa>aAa p.T150K NM_002295 NP_002286 P08865 RSSA_HUMAN Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA. 150 cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) CTGTGTAACACAGATTCTCCT 0.542 NLRP4 147945 broad.mit.edu 37 19 56379119 56379119 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr19:56379119C>T uc002qmd.4 + 5 2653 c.2231C>T c.(2230-2232)gCt>gTt p.A744V NLRP4_uc002qmf.3_Missense_Mutation_p.A669V|NLRP4_uc010etf.3_Intron NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 744 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAGTCCTTGCTGGCCTTCTA 0.483 TTN 7273 broad.mit.edu 37 2 179640164 179640164 + Missense_Mutation SNP C C G TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr2:179640164C>G uc021vsy.1 - 27 6652 c.6427G>C c.(6427-6429)Gct>Cct p.A2143P TTN_uc021vsz.1_Missense_Mutation_p.A2097P|TTN_uc021vta.1_Missense_Mutation_p.A2097P|TTN_uc021vtb.1_Missense_Mutation_p.A2097P|TTN_uc002unb.2_Missense_Mutation_p.A2143P|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2143 Ig-like 10. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGTCCTCAGCAGTCACATCT 0.443 PCNT 5116 broad.mit.edu 37 21 47845820 47845820 + Missense_Mutation SNP G G A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr21:47845820G>A uc002zji.4 + 32 7362 c.7255G>A c.(7255-7257)Gag>Aag p.E2419K PCNT_uc002zjj.3_Missense_Mutation_p.E2301K NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 2419 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCCAAGCGGCGAGCCACACCC 0.577 BCL6 604 broad.mit.edu 37 3 187447774 187447774 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr3:187447774C>T uc003frp.3 - 4 876 c.419G>A c.(418-420)cGt>cAt p.R140H LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R140H|BCL6_uc010hza.2_Missense_Mutation_p.R38H|BCL6_uc003frq.2_Missense_Mutation_p.R140H NM_001130845 NP_001697 P41182 BCL6_HUMAN Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA. 140 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) GAACTCTTCACGAGGAGGCTT 0.522 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" REST 5978 broad.mit.edu 37 4 57777086 57777086 + Silent SNP A A G TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr4:57777086A>G uc003hch.3 + 1 629 c.282A>G c.(280-282)gaA>gaG p.E94E REST_uc003hci.3_Silent_p.E94E|REST_uc003hcj.1_Silent_p.E94E|REST_uc010ihf.3_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA. 94 Interaction with SIN3A. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) AAGGACTTGAAGAGTCTGCTG 0.458 SPARCL1 8404 broad.mit.edu 37 4 88415064 88415064 + Silent SNP T T C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr4:88415064T>C uc010ikm.3 - 4 1460 c.888A>G c.(886-888)caA>caG p.Q296Q SPARCL1_uc011cdc.2_Silent_p.Q171Q|SPARCL1_uc003hqs.4_Silent_p.Q296Q|SPARCL1_uc011cdd.2_Silent_p.Q171Q NM_001128310 NP_004675 Q14515 SPRL1_HUMAN Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA. 296 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TTTTACCCTCTTGACTCTGCC 0.418 FAT4 79633 broad.mit.edu 37 4 126337603 126337603 + Missense_Mutation SNP G G A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr4:126337603G>A uc003ifj.4 + 6 6844 c.6844_splice c.e6-1 p.V2282_splice FAT4_uc011cgp.2_Splice_Site_p.V580_splice NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2282 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGTTCTACAGGTGGTGGCAAG 0.368 NHLRC1 378884 broad.mit.edu 37 6 18122155 18122155 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr6:18122155C>T uc003ncl.1 - 0 697 c.683G>A c.(682-684)gGg>gAg p.G228E NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA. 228 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) TACCACAATCCCATTCTGAGG 0.532 OR9A4 130075 broad.mit.edu 37 7 141619469 141619469 + Missense_Mutation SNP C C T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr7:141619469C>T uc003vwu.1 + 0 794 c.794C>T c.(793-795)aCg>aTg p.T265M NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CCCAAGCAAACGCAGGCAGCT 0.478 ZNF782 158431 broad.mit.edu 37 9 99581330 99581330 + Silent SNP G G C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr9:99581330G>C uc004awp.1 - 5 1256 c.975C>G c.(973-975)ctC>ctG p.L325L ZNF782_uc011lup.1_Silent_p.L193L NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN Homo sapiens zinc finger protein 782 (ZNF782), mRNA. 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) GATGCACTGGGAGGGTTGAAT 0.398