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 CELA2A 63036 broad.mit.edu 37 1 15789290 15789290 + Missense_Mutation SNP C C T rs146502483 TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr1:15789290C>T uc001awk.2 + 4 316 c.290C>T c.(289-291)TCG>TTG p.S97L NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 97 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GAGTCCGGCTCGCTGGCAGTC 0.612000 C1orf123 54987 broad.mit.edu 37 1 53684566 53684566 + Silent SNP C C T rs148279601 TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr1:53684566C>T uc001cvd.2 - 3 162 c.120G>A c.(118-120)TCG>TCA p.S40S C1orf123_uc001cvc.2_5'Flank|C1orf123_uc001cve.2_Intron NM_017887 NP_060357 Q9NWV4 CA123_HUMAN hypothetical protein LOC54987 40 pancreas(2) 2 GCCACTTGTCCGAAATCTCAC 0.493000 C8B 732 broad.mit.edu 37 1 57399077 57399077 + Nonsense_Mutation SNP C C A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr1:57399077C>A uc001cyp.2 - 10 1550 c.1483G>T c.(1483-1485)GAG>TAG p.E495* C8B_uc010oon.1_Nonsense_Mutation_p.E433*|C8B_uc010ooo.1_Nonsense_Mutation_p.E443* NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 495 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 TTCTGGAACTCCTCCAGTGCC 0.527000 DENND2D 79961 broad.mit.edu 37 1 111737247 111737247 + Silent SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr1:111737247G>A uc001eak.1 - 7 947 c.747C>T c.(745-747)GCC>GCT p.A249A DENND2D_uc001eal.1_Silent_p.A246A NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 249 DENN. ovary(1) 1 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) GCACGGCAGAGGCAAAGATCT 0.527000 TFB2M 64216 broad.mit.edu 37 1 246729331 246729331 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr1:246729331G>A uc001ibn.2 - 1 235 c.110C>T c.(109-111)CCG>CTG p.P37L CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA NM_022366 NP_071761 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 37 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity ovary(1) 1 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) GTTCCTCGCCGGCAAATGCTT 0.627000 OR2T4 127074 broad.mit.edu 37 1 248524923 248524923 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr1:248524923C>T uc001ieh.1 + 1 41 c.41C>T c.(40-42)TCG>TTG p.S14L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACTGGATGGTCGGATTTCATC 0.488000 ITIH5 80760 broad.mit.edu 37 10 7684001 7684001 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr10:7684001C>T uc001ijq.2 - 3 267 c.188G>A c.(187-189)CGT>CAT p.R63H ITIH5_uc001ijr.1_Missense_Mutation_p.R63H NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 63 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GAAGGCATAACGGGAAATGAT 0.438000 NEBL 10529 broad.mit.edu 37 10 21097582 21097582 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr10:21097582G>A uc001iqi.2 - 26 3015 c.2618C>T c.(2617-2619)GCG>GTG p.A873V NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 873 Linker. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 ATAGTGACTCGCCTTTTCTAT 0.403000 C10orf71 118461 broad.mit.edu 37 10 50530877 50530877 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr10:50530877C>T uc010qgp.1 + 3 626 c.287C>T c.(286-288)GCG>GTG p.A96V NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 96 0 TCGGGCTGGGCGGCCACCTTC 0.577000 C10orf71 118461 broad.mit.edu 37 10 50531976 50531976 + Missense_Mutation SNP C C A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr10:50531976C>A uc010qgp.1 + 3 1725 c.1386C>A c.(1384-1386)AGC>AGA p.S462R NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 462 0 CAGCAGACAGCCAGCCAGCAG 0.537000 RGR 5995 broad.mit.edu 37 10 86008690 86008690 + Silent SNP C C T rs149839596 byFrequency TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr10:86008690C>T uc001kdc.1 + 3 287 c.249C>T c.(247-249)TAC>TAT p.Y83Y RGR_uc001kdb.1_Missense_Mutation_p.R71W|RGR_uc001kdd.1_Silent_p.Y87Y|RGR_uc001kde.1_Silent_p.Y83Y NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 83 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 GCTGGCCCTACGGCTCGGACG 0.622000 TCTN3 26123 broad.mit.edu 37 10 97444352 97444352 + Silent SNP A A T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr10:97444352A>T uc001klb.3 - 9 1243 c.999T>A c.(997-999)ACT>ACA p.T333T TCTN3_uc001kla.3_Silent_p.T182T|TCTN3_uc010qoi.1_Intron|TCTN3_uc001kld.2_Silent_p.T351T|TCTN3_uc009xux.1_Silent_p.T155T|TCTN3_uc009xuy.1_RNA NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 333 Extracellular (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) GGATTCCAAAAGTCCCATTGG 0.408000 FAM175B 23172 broad.mit.edu 37 10 126517346 126517346 + Silent SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr10:126517346C>T uc001lib.3 + 6 525 c.480C>T c.(478-480)CTC>CTT p.L160L NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 160 BRISC complex polyubiquitin binding 0 GGATATCACTCGCTATTCCCA 0.358000 ANO2 57101 broad.mit.edu 37 12 5672628 5672628 + Missense_Mutation SNP A A C TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr12:5672628A>C uc001qnm.2 - 26 2906 c.2834T>G c.(2833-2835)TTC>TGC p.F945C NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 950 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CTCTTTCAGGAAGAAATCCAC 0.552000 CPNE8 144402 broad.mit.edu 37 12 39154659 39154659 + Nonsense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr12:39154659G>A uc001rls.1 - 10 796 c.712C>T c.(712-714)CGA>TGA p.R238* NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 238 C2 2. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CTTCCATCTCGGTCCCAGTCA 0.323000 C12orf51 283450 broad.mit.edu 37 12 112711519 112711519 + Missense_Mutation SNP G G C TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr12:112711519G>C uc009zwc.2 - 4 604 c.586C>G c.(586-588)CAA>GAA p.Q196E C12orf51_uc010syk.1_Missense_Mutation_p.Q19E|C12orf51_uc001tts.2_Missense_Mutation_p.Q19E|C12orf51_uc001ttt.3_Missense_Mutation_p.Q19E NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TGGAAGGCTTGATTCCCAGGG 0.458000 WASF3 10810 broad.mit.edu 37 13 27256755 27256755 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr13:27256755C>T uc001uqv.2 + 9 1220 c.995C>T c.(994-996)GCG>GTG p.A332V WASF3_uc001uqw.2_Missense_Mutation_p.A329V NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 332 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) ATGCTCCCAGCGCAGATAATT 0.552000 DCLK1 9201 broad.mit.edu 37 13 36410272 36410272 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr13:36410272G>A uc001uvf.2 - 8 1360 c.1127C>T c.(1126-1128)TCG>TTG p.S376L DCLK1_uc001uve.3_Missense_Mutation_p.S69L|DCLK1_uc010teh.1_Missense_Mutation_p.S69L|DCLK1_uc010abk.2_Intron NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 376 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GCCTTCCTCCGACACTTCTGA 0.353000 DZIP1 22873 broad.mit.edu 37 13 96237021 96237021 + Silent SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr13:96237021G>A uc001vmk.2 - 22 3345 c.2493C>T c.(2491-2493)GGC>GGT p.G831G DZIP1_uc001vmi.2_Silent_p.G79G|DZIP1_uc001vmj.2_Silent_p.G307G|DZIP1_uc001vml.2_Silent_p.G812G|DZIP1_uc001vmm.2_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 831 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GATTAAATGCGCCCCAGGCAT 0.408000 SIX4 51804 broad.mit.edu 37 14 61186876 61186876 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr14:61186876C>T uc001xfc.2 - 2 1151 c.1151G>A c.(1150-1152)GGA>GAA p.G384E SIX4_uc010app.1_Missense_Mutation_p.G376E NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 384 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CTGTGTATTTCCCACATTTAA 0.423000 PRKCH 5583 broad.mit.edu 37 14 61997205 61997205 + Silent SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr14:61997205C>T uc001xfn.2 + 12 1958 c.1653C>T c.(1651-1653)CAC>CAT p.H551H PRKCH_uc010tsa.1_Silent_p.H390H|PRKCH_uc010tsb.1_Silent_p.H119H NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 551 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TCTGTGGTCACGCGCCTTTTG 0.552000 C15orf26 161502 broad.mit.edu 37 15 81428869 81428869 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr15:81428869G>A uc002bgb.2 + 3 199 c.172G>A c.(172-174)GTA>ATA p.V58I C15orf26_uc010blp.1_Missense_Mutation_p.V33I NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 58 0 GCAACTTTCCGTAACTGAAGA 0.408000 LUC7L 55692 broad.mit.edu 37 16 240114 240114 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr16:240114C>T uc002cgc.1 - 9 938 c.827G>A c.(826-828)CGT>CAT p.R276H LUC7L_uc002cga.1_Missense_Mutation_p.R276H|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.R276H|LUC7L_uc002cgb.1_Missense_Mutation_p.R190H NM_201412 NP_958815 Q9NQ29 LUC7L_HUMAN LUC7-like isoform b 276 Arg/Ser-rich. metal ion binding central_nervous_system(1) 1 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CCGCCTCCGACGCCGATCCCG 0.622000 AXIN1 8312 broad.mit.edu 37 16 347940 347940 + Silent SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr16:347940C>T uc002cgp.1 - 6 1743 c.1566G>A c.(1564-1566)GCG>GCA p.A522A AXIN1_uc002cgq.1_Silent_p.A522A NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 522 Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CGTCCAGCTTCGCCCCTGACT 0.716000 PRR25 388199 broad.mit.edu 37 16 855739 855739 + Silent SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr16:855739G>A uc010uut.1 + 1 297 c.297G>A c.(295-297)CCG>CCA p.P99P NM_001013638 NP_001013660 Q96S07 PRR25_HUMAN proline rich 25 99 large_intestine(1) 1 CAGCGCAGCCGCTCGCAAATG 0.647000 SNX29 92017 broad.mit.edu 37 16 12293530 12293530 + Silent SNP A A G rs142571390 by1000genomes TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr16:12293530A>G uc002dby.3 + 7 569 c.513A>G c.(511-513)CAA>CAG p.Q171Q SNX29_uc010uyx.1_Silent_p.Q198Q NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 171 cell communication phosphatidylinositol binding ovary(1) 1 GAGAAGGTCAAACAGCTGAAG 0.493000 SALL1 6299 broad.mit.edu 37 16 51174418 51174418 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr16:51174418G>A uc010vgs.1 - 2 1746 c.1715C>T c.(1714-1716)ACG>ATG p.T572M SALL1_uc010vgr.1_Missense_Mutation_p.T475M|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 572 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGCTCTTCCGTCTTGATGAA 0.602000 TRADD 8717 broad.mit.edu 37 16 67189149 67189149 + Nonsense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr16:67189149G>A uc002eri.1 - 4 558 c.478C>T c.(478-480)CGA>TGA p.R160* TRADD_uc002erh.1_Nonsense_Mutation_p.R100* NM_003789 NP_003780 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 160 activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity lung(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) TTCAGATTTCGCAGCGCATCC 0.701000 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr17:7577022G>A uc002gim.2 - 8 1110 c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTACCTCGCTTAGTGCTC 0.562000 R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYST2 11143 broad.mit.edu 37 17 47903390 47903390 + Missense_Mutation SNP A A C TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr17:47903390A>C uc002ipm.2 + 13 1635 c.1509A>C c.(1507-1509)AAA>AAC p.K503N MYST2_uc010wma.1_Missense_Mutation_p.K364N|MYST2_uc010wmb.1_Missense_Mutation_p.K393N|MYST2_uc010wmc.1_Missense_Mutation_p.K334N|MYST2_uc010wmd.1_Missense_Mutation_p.K347N|MYST2_uc010wme.1_Missense_Mutation_p.K317N|MYST2_uc010wmf.1_Missense_Mutation_p.K168N|MYST2_uc010wmg.1_Missense_Mutation_p.K58N NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 503 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TCGAAGAAAAAGTTGGCTCCC 0.428000 INSR 3643 broad.mit.edu 37 19 7132311 7132311 + Silent SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr19:7132311G>A uc002mgd.1 - 14 2809 c.2700C>T c.(2698-2700)GTC>GTT p.V900V INSR_uc002mge.1_Silent_p.V888V NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 900 Fibronectin type-III 3.|Extracellular (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTTGCGGGAGACGCAGAGAT 0.652000 OR1M1 125963 broad.mit.edu 37 19 9204290 9204290 + Missense_Mutation SNP G G A rs148262558 by1000genomes TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr19:9204290G>A uc010xkj.1 + 1 370 c.370G>A c.(370-372)GTG>ATG p.V124M NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 TGACCGGTTCGTGGCCATCTG 0.552000 SLC5A5 6528 broad.mit.edu 37 19 17994560 17994560 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr19:17994560C>T uc002nhr.3 + 11 1660 c.1313C>T c.(1312-1314)CCG>CTG p.P438L NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 438 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 ATGTTCCTGCCGGCCTGCAAC 0.562000 KIAA1683 80726 broad.mit.edu 37 19 18378091 18378091 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr19:18378091C>T uc002nin.2 - 3 475 c.259G>A c.(259-261)GAG>AAG p.E87K KIAA1683_uc010ebn.2_Missense_Mutation_p.E87K|KIAA1683_uc010xqe.1_Missense_Mutation_p.E41K NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 87 mitochondrion ovary(2) 2 GCCTGGCTCTCGACCACAGCC 0.647000 ZNF536 9745 broad.mit.edu 37 19 31040026 31040026 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr19:31040026C>T uc002nsu.1 + 4 3638 c.3500C>T c.(3499-3501)TCA>TTA p.S1167L ZNF536_uc010edd.1_Missense_Mutation_p.S1167L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) ATTGCCTCCTCAGAGGACATG 0.527000 GGN 199720 broad.mit.edu 37 19 38876902 38876902 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr19:38876902G>A uc002oij.1 - 3 1135 c.1000C>T c.(1000-1002)CGG>TGG p.R334W GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R251W NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 334 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGTAGGGCCCGGGCTTGGGAC 0.667000 NLRC4 58484 broad.mit.edu 37 2 32475567 32475567 + Missense_Mutation SNP T T C TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr2:32475567T>C uc002roi.2 - 4 1612 c.1366A>G c.(1366-1368)AGC>GGC p.S456G NLRC4_uc002roj.1_Missense_Mutation_p.S456G|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 456 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AATAAACTGCTGAGTCTTCGT 0.438000 NRXN1 9378 broad.mit.edu 37 2 50733718 50733718 + Silent SNP G G C TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr2:50733718G>C uc010fbq.2 - 13 4009 c.2532C>G c.(2530-2532)CTC>CTG p.L844L NRXN1_uc002rxb.3_Silent_p.L476L|NRXN1_uc002rxe.3_Silent_p.L804L|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGTTATCATTGAGGTTATAGC 0.448000 BMP10 27302 broad.mit.edu 37 2 69093087 69093087 + Silent SNP G G A rs113361577 TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr2:69093087G>A uc002sez.1 - 2 1110 c.951C>T c.(949-951)AAC>AAT p.N317N NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 317 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 TTCCTTTGGCGTTCCTTCTGA 0.517000 SCTR 6344 broad.mit.edu 37 2 120236430 120236430 + Silent SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr2:120236430C>T uc002tma.2 - 3 484 c.258G>A c.(256-258)GAG>GAA p.E86E SCTR_uc002tlz.2_5'UTR NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 86 Extracellular (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) GGCATTCCACCTCCACCATCC 0.612000 CASP10 843 broad.mit.edu 37 2 202050848 202050848 + Splice_Site SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr2:202050848G>A uc002uxl.1 + 2 765 c.347_splice c.e2+1 p.R116_splice CASP10_uc002uxi.1_Splice_Site_p.R116_splice|CASP10_uc010zhn.1_Splice_Site|CASP10_uc002uxj.1_Splice_Site_p.R116_splice|CASP10_uc002uxk.1_Splice_Site_p.R116_splice|CASP10_uc010fta.1_Splice_Site_p.R116_splice|CASP10_uc002uxm.1_Splice_Site_p.R116_splice|CASP10_uc010ftb.1_Splice_Site NM_032974 NP_116756 Q92851 CASPA_HUMAN caspase 10 isoform b preproprotein apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding skin(3)|ovary(1)|pancreas(1)|breast(1) 6 CTCTGTTTAGGTGAGGACGGG 0.498000 PAK7 57144 broad.mit.edu 37 20 9561532 9561532 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr20:9561532C>T uc002wnl.2 - 5 795 c.250G>A c.(250-252)GGC>AGC p.G84S PAK7_uc002wnk.2_Missense_Mutation_p.G84S|PAK7_uc002wnj.2_Missense_Mutation_p.G84S|PAK7_uc010gby.1_Missense_Mutation_p.G84S NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 84 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) TCTAGCAGGCCGTTGATGGAG 0.463000 XKR7 343702 broad.mit.edu 37 20 30584454 30584454 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr20:30584454G>A uc002wxe.2 + 3 1108 c.934G>A c.(934-936)GCC>ACC p.A312T NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 312 integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CAGCATTGCCGCCCGCGGCCT 0.632000 MYL9 10398 broad.mit.edu 37 20 35176528 35176528 + Missense_Mutation SNP A A C TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr20:35176528A>C uc002xfl.1 + 3 372 c.278A>C c.(277-279)AAG>ACG p.K93T uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron NM_006097 NP_006088 P24844 MYL9_HUMAN myosin regulatory light chain 9 isoform a 93 axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle 0 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TTTGGGGAGAAGCTGAACGGC 0.612000 ZHX3 23051 broad.mit.edu 37 20 39832810 39832810 + Missense_Mutation SNP G G T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr20:39832810G>T uc002xjs.1 - 3 1125 c.747C>A c.(745-747)AAC>AAA p.N249K ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 249 Required for homodimerization and interaction with NFYA. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) CGGCATGGGGGTTTTTTGCAG 0.587000 NCOA3 8202 broad.mit.edu 37 20 46266482 46266482 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr20:46266482C>T uc002xtk.2 + 13 2672 c.2467C>T c.(2467-2469)CAT>TAT p.H823Y NCOA3_uc010ght.1_Missense_Mutation_p.H833Y|NCOA3_uc002xtl.2_Missense_Mutation_p.H823Y|NCOA3_uc002xtm.2_Missense_Mutation_p.H823Y|NCOA3_uc002xtn.2_Missense_Mutation_p.H823Y|NCOA3_uc010zyc.1_Missense_Mutation_p.H618Y NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 823 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 AAATGGTAGTCATCTGGGGAC 0.358000 TMPRSS3 64699 broad.mit.edu 37 21 43805630 43805630 + Missense_Mutation SNP C C A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr21:43805630C>A uc002zbb.2 - 6 661 c.460G>T c.(460-462)GAT>TAT p.D154Y TMPRSS3_uc002zay.2_5'Flank|TMPRSS3_uc002zaz.2_Missense_Mutation_p.D27Y|TMPRSS3_uc002zba.2_Missense_Mutation_p.D27Y|TMPRSS3_uc002zbc.2_Missense_Mutation_p.D154Y|TMPRSS3_uc002zbd.2_Missense_Mutation_p.D154Y NM_024022 NP_076927 P57727 TMPS3_HUMAN transmembrane protease, serine 3 isoform 1 154 SRCR.|Extracellular (Potential). cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity ovary(2)|breast(1) 3 CTGAGGTTATCTGAACTCACA 0.498000 PRAME 23532 broad.mit.edu 37 22 22890846 22890846 + Silent SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr22:22890846C>T uc002zwf.2 - 5 1329 c.1173G>A c.(1171-1173)ACG>ACA p.T391T LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.T375T|PRAME_uc010gtr.2_Silent_p.T391T|PRAME_uc002zwg.2_Silent_p.T391T|PRAME_uc002zwh.2_Silent_p.T391T|PRAME_uc002zwi.2_Silent_p.T391T|PRAME_uc002zwj.2_Silent_p.T391T|PRAME_uc002zwk.2_Silent_p.T391T NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 391 LRR 3. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GCTGATCATCCGTGATCCCAC 0.567000 WNT7A 7476 broad.mit.edu 37 3 13916592 13916592 + Silent SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr3:13916592C>T uc003bye.1 - 2 455 c.150G>A c.(148-150)GCG>GCA p.A50A NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 50 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 TCTGGCAGATCGCCCGCTGTC 0.592000 CELSR3 1951 broad.mit.edu 37 3 48664446 48664446 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr3:48664446C>T uc003cuf.1 - 53 12094 c.12094G>A c.(12094-12096)GGT>AGT p.G4032S SLC26A6_uc003cug.2_Missense_Mutation_p.G625S|SLC26A6_uc003cuh.2_Missense_Mutation_p.G646S|SLC26A6_uc010hke.2_Missense_Mutation_p.G478S|SLC26A6_uc003cuk.2_Missense_Mutation_p.G538S|SLC26A6_uc003cui.2_Missense_Mutation_p.G645S|SLC26A6_uc003cuj.2_Missense_Mutation_p.G627S|SLC26A6_uc011bbp.1_Missense_Mutation_p.G610S NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTTCTTGACCATTGGCTGTT 0.607000 ROBO1 6091 broad.mit.edu 37 3 78763664 78763664 + Nonsense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr3:78763664G>A uc003dqe.2 - 8 1136 c.928C>T c.(928-930)CGA>TGA p.R310* ROBO1_uc003dqb.2_Nonsense_Mutation_p.R271*|ROBO1_uc003dqc.2_Nonsense_Mutation_p.R271*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.R271*|ROBO1_uc003dqf.1_5'UTR NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 310 Extracellular (Potential).|Ig-like C2-type 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGATCATCTCGGATTTCATAT 0.378000 PLCXD2 257068 broad.mit.edu 37 3 111432963 111432963 + Missense_Mutation SNP C C T rs139070081 byFrequency TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr3:111432963C>T uc003dya.2 + 3 1440 c.854C>T c.(853-855)ACG>ATG p.T285M PLCXD2_uc003dyb.2_Missense_Mutation_p.T285M|PLCXD2_uc003dxz.2_Missense_Mutation_p.T285M NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 285 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 CTCAAGAACACGCTGGTTCAT 0.493000 PLCH1 23007 broad.mit.edu 37 3 155198891 155198891 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr3:155198891G>A uc011bok.1 - 23 5225 c.4948C>T c.(4948-4950)CGG>TGG p.R1650W PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.R1612W NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1650 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGGATGCCCCGGCCTTCAAGG 0.557000 KLF3 51274 broad.mit.edu 37 4 38690545 38690545 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr4:38690545C>T uc003gth.3 + 3 729 c.397C>T c.(397-399)CGG>TGG p.R133W KLF3_uc003gtg.2_Missense_Mutation_p.R133W NM_016531 NP_057615 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 133 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 TGCCCTCTCGCGGCATGGAAT 0.617000 TMEM150C 441027 broad.mit.edu 37 4 83406787 83406787 + Silent SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr4:83406787G>A uc003hmy.1 - 8 705 c.627C>T c.(625-627)GGC>GGT p.G209G TMEM150C_uc011ccj.1_Silent_p.G239G NM_001080506 NP_001073975 B9EJG8 T150C_HUMAN transmembrane protein 150C 209 Helical; (Potential). integral to membrane ovary(1) 1 CGGCAAAGGTGCCAAAATAAG 0.512000 IRF1 3659 broad.mit.edu 37 5 131822699 131822699 + Nonsense_Mutation SNP G G T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr5:131822699G>T uc003kxa.2 - 4 545 c.311C>A c.(310-312)TCA>TAA p.S104* IRF1_uc003kxd.2_RNA|IRF1_uc003kxb.2_Nonsense_Mutation_p.S104*|IRF1_uc010jdt.1_Nonsense_Mutation_p.S104* NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 104 IRF tryptophan pentad repeat. blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TCGCACAGCTGAGCTGCCCTT 0.567000 FSTL4 23105 broad.mit.edu 37 5 132545910 132545910 + Silent SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr5:132545910G>A uc003kyn.1 - 14 1907 c.1689C>T c.(1687-1689)GAC>GAT p.D563D FSTL4_uc003kym.1_Silent_p.D212D NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 563 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACTTGTGCACGTCCCCCCAGC 0.498000 GRIA1 2890 broad.mit.edu 37 5 153085359 153085359 + Nonsense_Mutation SNP A A T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr5:153085359A>T uc003lva.3 + 11 1920 c.1555A>T c.(1555-1557)AAA>TAA p.K519* GRIA1_uc003luy.3_Nonsense_Mutation_p.K519*|GRIA1_uc003luz.3_Nonsense_Mutation_p.K424*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.K439*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.K450*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.K529*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.K529*|GRIA1_uc010jia.1_Nonsense_Mutation_p.K499* NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 519 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATCATGATTAAAAAACCACA 0.428000 CFB 629 broad.mit.edu 37 6 31901495 31901495 + Missense_Mutation SNP C C T rs138034438 by1000genomes TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:31901495C>T uc011dor.1 + 3 629 c.365C>T c.(364-366)ACG>ATG p.T122M C2_uc003nyc.2_Missense_Mutation_p.R16W|C2_uc011doo.1_Missense_Mutation_p.R16W|C2_uc011dop.1_Missense_Mutation_p.T61M|C2_uc003nye.3_Missense_Mutation_p.T184M|C2_uc003nyf.2_Missense_Mutation_p.T184M|C2_uc010jtk.2_Missense_Mutation_p.T52M|C2_uc011doq.1_Missense_Mutation_p.T155M|C2_uc003nyg.2_Missense_Mutation_p.T52M NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 CTTGTGCTCACGGGGTCTTCG 0.642000 TNXB 7148 broad.mit.edu 37 6 32017048 32017048 + Silent SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:32017048C>T uc003nzl.2 - 28 9952 c.9750G>A c.(9748-9750)ACG>ACA p.T3250T TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3297 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CCCACTCACCCGTGATGCCCA 0.637000 NCR2 9436 broad.mit.edu 37 6 41309565 41309565 + Missense_Mutation SNP G G A rs142832518 byFrequency TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:41309565G>A uc003oqh.2 + 3 515 c.428G>A c.(427-429)CGC>CAC p.R143H NCR2_uc003oqi.2_Missense_Mutation_p.R143H|NCR2_uc003oqj.2_Missense_Mutation_p.R143H NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 143 Extracellular (Potential). cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) TGGACTCCCCGCGACCTGGTC 0.617000 RFPL4B 442247 broad.mit.edu 37 6 112671190 112671190 + Missense_Mutation SNP C C T rs142366862 byFrequency TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:112671190C>T uc003pvx.1 + 3 592 c.280C>T c.(280-282)CGG>TGG p.R94W NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 94 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) CCGGCATTTTCGGGAGGATGT 0.522000 HEY2 23493 broad.mit.edu 37 6 126080849 126080849 + Silent SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:126080849G>A uc003qad.2 + 5 1106 c.915G>A c.(913-915)CCG>CCA p.P305P HEY2_uc011ebr.1_Silent_p.P259P NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 305 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CCATCAGCCCGCCCTTGTCAG 0.597000 MOXD1 26002 broad.mit.edu 37 6 132649655 132649655 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:132649655C>T uc003qdf.2 - 5 841 c.742G>A c.(742-744)GAC>AAC p.D248N MOXD1_uc003qde.2_Missense_Mutation_p.D180N NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 248 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) AGAACGCTGTCGTTAAAGTTG 0.512000 PHACTR2 9749 broad.mit.edu 37 6 144086652 144086652 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:144086652G>A uc003qjq.3 + 6 1046 c.916G>A c.(916-918)GAA>AAA p.E306K PHACTR2_uc010khh.2_Missense_Mutation_p.E226K|PHACTR2_uc010khi.2_Missense_Mutation_p.E317K|PHACTR2_uc003qjr.3_Missense_Mutation_p.E237K NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 306 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TTTCAAACTCGAACAGACTGT 0.562000 ABCA13 154664 broad.mit.edu 37 7 48431656 48431656 + Silent SNP C C T rs147058958 by1000genomes TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr7:48431656C>T uc003toq.2 + 38 11818 c.11793C>T c.(11791-11793)ACC>ACT p.T3931T ABCA13_uc010kys.1_Silent_p.T1005T|ABCA13_uc003tos.1_Silent_p.T757T|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3931 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACAACCTCACCGTCCGGGAAC 0.507000 FIGNL1 63979 broad.mit.edu 37 7 50514267 50514267 + Missense_Mutation SNP A A T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr7:50514267A>T uc003tpc.2 - 4 1096 c.719T>A c.(718-720)GTG>GAG p.V240E FIGNL1_uc003tpb.2_Missense_Mutation_p.V129E|FIGNL1_uc003tpd.2_Missense_Mutation_p.V240E|FIGNL1_uc003tpe.2_Missense_Mutation_p.V240E|FIGNL1_uc010kyy.2_Missense_Mutation_p.V240E NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 240 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) AGATAAGAACACATTAAGTCC 0.393000 LMTK2 22853 broad.mit.edu 37 7 97823365 97823365 + Silent SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr7:97823365C>T uc003upd.1 + 11 3881 c.3588C>T c.(3586-3588)GAC>GAT p.D1196D NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 1196 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCACGGAAGACGAGGCCAGCA 0.597000 CAV1 857 broad.mit.edu 37 7 116199088 116199088 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr7:116199088C>T uc003vif.1 + 3 562 c.284C>T c.(283-285)ACG>ATG p.T95M CAV1_uc010lkd.1_Missense_Mutation_p.T64M|CAV1_uc010lke.1_Missense_Mutation_p.T64M|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Missense_Mutation_p.T64M|CAV1_uc010lkf.1_Missense_Mutation_p.T64M NM_001753 NP_001744 Q03135 CAV1_HUMAN caveolin 1 95 Cytoplasmic (Potential). blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding 0 all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609) STAD - Stomach adenocarcinoma(10;0.00878) TTCACTGTGACGAAATACTGG 0.483000 TRPA1 8989 broad.mit.edu 37 8 72970030 72970030 + Missense_Mutation SNP C C T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr8:72970030C>T uc003xza.2 - 9 1190 c.1015G>A c.(1015-1017)GAT>AAT p.D339N NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 339 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CCTTCAGAATCGATCTTATTA 0.338000 RALYL 138046 broad.mit.edu 37 8 85774574 85774574 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr8:85774574G>A uc003ycq.3 + 7 873 c.457G>A c.(457-459)GTA>ATA p.V153I RALYL_uc003ycr.3_Missense_Mutation_p.V153I|RALYL_uc003ycs.3_Missense_Mutation_p.V153I|RALYL_uc010lzy.2_Missense_Mutation_p.V142I|RALYL_uc003yct.3_Missense_Mutation_p.V166I|RALYL_uc003ycu.3_Missense_Mutation_p.V80I|RALYL_uc003ycv.3_Missense_Mutation_p.V65I NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 153 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 TCCCCGTGCAGTAATTCCGCT 0.512000 FOXE1 2304 broad.mit.edu 37 9 100616580 100616580 + Silent SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr9:100616580G>A uc004axu.2 + 1 1044 c.384G>A c.(382-384)GCG>GCA p.A128A NM_004473 NP_004464 O00358 FOXE1_HUMAN forkhead box E1 128 Fork-head. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 0 Acute lymphoblastic leukemia(62;0.158) ACTACTGGGCGCTTGACCCCA 0.637000 OLFM1 10439 broad.mit.edu 37 9 138011806 138011806 + Missense_Mutation SNP G G A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr9:138011806G>A uc010nar.2 + 6 1556 c.1240G>A c.(1240-1242)GTC>ATC p.V414I OLFM1_uc004cfl.3_Missense_Mutation_p.V396I|OLFM1_uc004cfn.3_Missense_Mutation_p.V165I NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 414 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) CACGCTGTACGTCACCAACGG 0.577000 KIAA1210 57481 broad.mit.edu 37 X 118219449 118219449 + Missense_Mutation SNP G G T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chrX:118219449G>T uc004era.3 - 12 4745 c.4745C>A c.(4744-4746)GCA>GAA p.A1582E NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1582 ovary(4)|skin(1) 5 CTTCTGCTTTGCCATAGTTAT 0.448000 MAP3K7 6885 broad.mit.edu 37 6 91271380 91271392 + Splice_Site DEL GACACACCTAAAG GACACACCTAAAG - TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:91271379_91271391AGACACACCTAAAG>A uc003pnz.1 - 4 603 c.298_splice c.e4-1 p.V100_splice MAP3K7_uc003pob.1_Splice_Site_p.V100_splice|MAP3K7_uc003poa.1_Splice_Site_p.V100_splice|MAP3K7_uc003poc.1_Splice_Site_p.V100_splice NM_145331 NP_663304 O43318 M3K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA. 100 Protein kinase. I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTCCATCACAAGACACACCTAAAGGAAACATAT 0.319 SF1 7536 broad.mit.edu 37 11 64533312 64533312 + Frame_Shift_Del DEL G G - TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr11:64533312delG uc001obb.1 - 13 2275 c.1898delC c.(1897-1899)CCAfs p.P633fs SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Frame_Shift_Del_p.P607fs|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Intron|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 633 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 TGGAGGCGGTGGGGGAGCTGG 0.517 SEL1L3 23231 broad.mit.edu 37 4 25780725 25780725 + Frame_Shift_Del DEL A A - TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr4:25780724_25780724GA>G uc003gru.4 - 15 2711 c.2559_2559TC>C c.(2557-2559)ttcfs p.F853fs SEL1L3_uc003grv.3_Frame_Shift_Del_p.F260fs NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 853 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GATCTCTAGGGAATGTCTCCA 0.443 MAP3K7 6885 broad.mit.edu 37 6 91271380 91271392 + Splice_Site DEL GACACACCTAAAG GACACACCTAAAG - TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr6:91271379_91271391AGACACACCTAAAG>A uc003pnz.1 - 4 603 c.298_splice c.e4-1 p.V100_splice MAP3K7_uc003pob.1_Splice_Site_p.V100_splice|MAP3K7_uc003poa.1_Splice_Site_p.V100_splice|MAP3K7_uc003poc.1_Splice_Site_p.V100_splice NM_145331 NP_663304 O43318 M3K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA. 100 Protein kinase. I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTCCATCACAAGACACACCTAAAGGAAACATAT 0.319 PHKB 5257 broad.mit.edu 37 16 47694578 47694579 + Frame_Shift_Ins INS - - T TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr16:47694577_47694578A>AT uc002eev.4 + 21 2095_2096 c.2043_2044A>AT c.(2041-2046)gaatttfs p.E681fs PHKB_uc002eeu.4_Frame_Shift_Ins_p.E674fs NM_000293 NP_000284 Q93100 KPBB_HUMAN Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. 681 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) GGCTTCCAGAATTTAAGAGTTT 0.381 KRTAP4-12 83755 broad.mit.edu 37 17 39280351 39280352 + Frame_Shift_Del DEL AG AG - TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr17:39280350_39280351CAG>C uc002hwa.3 - 0 69_70 c.24_25CTG>G c.(22-27)tctgtgfs p.S8fs NM_031854 NP_114060 Q9BQ66 KR412_HUMAN Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA. 8 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TCAGAGCACACAGAGCCACAAC 0.599 UNK 85451 broad.mit.edu 37 17 73819366 73819367 + Frame_Shift_Del DEL AG AG - TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr17:73819365_73819366AAG>A uc002jpm.3 + 15 2267_2268 c.2267_2268AAG>A c.(2266-2268)aaafs p.K756fs UNK_uc021udd.1_Frame_Shift_Del_p.K680fs NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA. 680 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCTGGAAGAAAGAGGCGGAGG 0.653 ZNF569 148266 broad.mit.edu 37 19 37905171 37905172 + Frame_Shift_Ins INS - - A TCGA-BR-8682-01A-11D-2394-08 TCGA-BR-8682-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea2055d1-7b8b-4aaf-9a70-8802f4deef9b e959d24d-aab8-4a7e-a29c-5e2370ddcad8 g.chr19:37905170_37905171G>GA uc002ogj.3 - 8 1393_1394 c.461_462C>TC c.(460-462)ttcfs p.F154fs ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Frame_Shift_Ins_p.F130fs NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN Homo sapiens zinc finger protein 569 (ZNF569), mRNA. 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTCTGGAAGGGAAAAAATCAGA 0.327