Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut HPCAL1 3241 broad.mit.edu 37 2 10559988 10559988 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:10559988C>T ENST00000381765.3 + 4 631 c.105C>T c.(103-105)ctC>ctT p.L35L HPCAL1_ENST00000307845.3_Silent_p.L35L NM_134421.2 NP_602293.1 P37235 HPCL1_HUMAN hippocalcin-like 1 35 EF-hand 1. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) AGGGCTTCCTCAAGGACTGCC 0.612000 12 30 0 0 0.001368 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139487 101139487 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:101139487G>A ENST00000458570.1 - 9 1729 c.399C>T c.(397-399)ttC>ttT p.F133F ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.F304F|ZMAT1_ENST00000372782.3_Silent_p.F304F A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 133 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 GTTCATCTTGGAAAGAGTCAT 0.398000 56 41 0 0 0.003610 0 0 BAD 572 broad.mit.edu 37 11 64037607 64037607 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:64037607G>A ENST00000544785.1 - 2 390 c.390C>T c.(388-390)taC>taT p.Y130Y BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 CCTGAGGGAAGTACTTCCGCC 0.602000 15 11 0 0 0.004007 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862643 10862643 + RNA SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr21:10862643C>T ENST00000559480.1 + 0 22 p.L8L(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TTGGAGGATCCTGTTTTTGGT 0.502000 33 369 0 0 0.002852 0 0 ANO4 121601 broad.mit.edu 37 12 101480466 101480466 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:101480466G>A ENST00000392979.3 + 16 1821 c.1460G>A c.(1459-1461)gGg>gAg p.G487E ANO4_ENST00000392977.3_Missense_Mutation_p.G522E|ANO4_ENST00000550015.1_Missense_Mutation_p.G42E|ANO4_ENST00000299222.9_Missense_Mutation_p.G42E NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 522 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GCCGTGTTCGGGATCGTCATT 0.517000 HNSCC(74;0.22) 83 172 0 0 0.003610 0 0 DIDO1 11083 broad.mit.edu 37 20 61542877 61542877 + Nonsense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:61542877G>A ENST00000266070.4 - 3 413 c.88C>T c.(88-90)Cga>Tga p.R30* DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R30*|DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R30*|DIDO1_ENST00000370366.1_Nonsense_Mutation_p.R30*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R30*|DIDO1_ENST00000266071.5_Nonsense_Mutation_p.R30*|DIDO1_ENST00000370368.1_Nonsense_Mutation_p.R30*|DIDO1_ENST00000370371.4_Nonsense_Mutation_p.R30*|DIDO1_ENST00000354665.4_Nonsense_Mutation_p.R30* NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 30 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GTGGTCCTTCGAAAACCCCAT 0.617000 11 7 0 0 0.001368 0 0 PRSS57 400668 broad.mit.edu 37 19 691996 691996 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:691996G>A ENST00000329267.7 - 3 272 c.243C>T c.(241-243)ctC>ctT p.L81L NM_214710.3 NP_999875.1 Q6UWY2 PRS57_HUMAN protease, serine, 57 81 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 GGCCAGTGCGGAGGTCTCTGC 0.672000 13 5 0 0 0.002450 0 0 SECTM1 6398 broad.mit.edu 37 17 80282647 80282647 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:80282647C>T ENST00000269389.3 - 3 564 c.214G>A c.(214-216)Ggg>Agg p.G72R SECTM1_ENST00000580437.1_Missense_Mutation_p.G72R NM_003004.2 NP_002995.1 Q8WVN6 SCTM1_HUMAN secreted and transmembrane 1 72 immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular space|Golgi apparatus|integral to membrane|plasma membrane cytokine activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1) 4 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) CTCTCCTGCCCGTGGGCACGC 0.602000 9 10 0 0 0.006214 0 0 TRPM7 54822 broad.mit.edu 37 15 50931720 50931720 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:50931720G>A ENST00000313478.7 - 6 842 c.561C>T c.(559-561)gcC>gcT p.A187A TRPM7_ENST00000560955.1_Silent_p.A187A NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 187 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GTTCTTTGAGGGCATCTCCAA 0.388000 14 29 0 0 0.006122 0 0 MCM10 55388 broad.mit.edu 37 10 13224936 13224936 + Missense_Mutation SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:13224936A>G ENST00000378694.1 + 7 1009 c.934A>G c.(934-936)Aaa>Gaa p.K312E MCM10_ENST00000484800.2_Missense_Mutation_p.K313E|MCM10_ENST00000378714.3_Missense_Mutation_p.K312E Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 313 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GTTCCAGGGAAAAACCTTCAG 0.363000 17 7 0 0 0.004990 0 0 ZNFX1 57169 broad.mit.edu 37 20 47881379 47881379 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:47881379G>A ENST00000396105.1 - 5 2271 c.2025C>T c.(2023-2025)acC>acT p.T675T ZNFX1_ENST00000371754.4_Silent_p.T675T|ZNFX1_ENST00000371752.1_Silent_p.T675T NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 675 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCACAATGCTGGTCTTCTGAC 0.527000 84 72 0 0 0.003610 0 0 MDGA1 266727 broad.mit.edu 37 6 37606313 37606313 + Splice_Site SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:37606313C>T ENST00000434837.2 - 15 3845 c.2667_splice c.e15+1 p.Q889_splice MDGA1_ENST00000505425.1_Splice_Site_p.Q889_splice|MDGA1_ENST00000297153.7_Splice_Site_p.Q893_splice NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 889 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACGGACTCACCTGGAAGGGCC 0.607000 12 48 0 0 0.003163 0 0 GUCY2F 2986 broad.mit.edu 37 X 108673535 108673535 + Splice_Site SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:108673535C>T ENST00000218006.2 - 8 2083 c.e8+1 NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ATTTCTCATACCATTTCGAAC 0.378000 83 66 0 0 0.003610 0 0 CFH 3075 broad.mit.edu 37 1 196694339 196694339 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:196694339C>T ENST00000367429.4 + 12 2025 c.1785C>T c.(1783-1785)ttC>ttT p.F595F NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 595 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGTTGAAATTCTCCTGCAAAC 0.393000 30 9 0 0 0.008361 0 0 OR1D4 653166 broad.mit.edu 37 17 3144090 3144090 + RNA SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:3144090G>A ENST00000531680.1 + 0 121 NR_033795.1 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) CACGGTGCTGGGAAATGTGCT 0.527000 23 54 0 0 0.004289 0 0 CHGB 1114 broad.mit.edu 37 20 5897512 5897512 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:5897512C>T ENST00000378961.4 + 3 341 c.137C>T c.(136-138)tCg>tTg p.S46L CHGB_ENST00000488832.1_3'UTR NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 46 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AATGCCTTGTCGAAGTCCAGC 0.557000 40 39 0 0 0.009718 0 0 DMD 1756 broad.mit.edu 37 X 31514964 31514964 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:31514964G>A ENST00000357033.4 - 57 8694 c.8488C>T c.(8488-8490)Cgg>Tgg p.R2830W DMD_ENST00000343523.2_Missense_Mutation_p.R370W|DMD_ENST00000359836.1_Missense_Mutation_p.R370W|DMD_ENST00000474231.1_Missense_Mutation_p.R370W|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000541735.1_Missense_Mutation_p.R370W|DMD_ENST00000378707.3_Missense_Mutation_p.R370W|DMD_ENST00000378677.2_Missense_Mutation_p.R2826W NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2830 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.R2825W(1)|p.R2826W(1)|p.R370W(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGTGCCTGCCGGCTTAATTCA 0.498000 19 15 0 0 0.001882 0 0 MUC17 140453 broad.mit.edu 37 7 100684854 100684854 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:100684854G>A ENST00000306151.4 + 3 10221 c.10157G>A c.(10156-10158)gGt>gAt p.G3386D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3386 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTGCTGAAGGTACCAGCATA 0.507000 47 476 0 0 0.003610 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468240 35468240 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr21:35468240T>C ENST00000381151.3 + 2 1255 c.743T>C c.(742-744)cTg>cCg p.L248P MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 248 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 AAAGAAGCCCTGAAAATGCTG 0.463000 273 284 0 0 0.003610 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214118 140214118 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:140214118G>A ENST00000525929.1 + 1 150 c.150G>A c.(148-150)caG>caA p.Q50Q PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.Q50Q|PCDHA5_ENST00000529619.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCGCGCAGGACCTGGGGC 0.592000 71 22 0 0 0.003610 0 0 SAMD9 54809 broad.mit.edu 37 7 92731696 92731696 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:92731696G>A ENST00000379958.2 - 3 3984 c.3715C>T c.(3715-3717)Cca>Tca p.P1239S NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1239 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GGATCCCCTGGAATATCACTA 0.274000 22 119 0 0 0.002780 0 0 RBP3 5949 broad.mit.edu 37 10 48388676 48388676 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:48388676G>A ENST00000224600.4 - 1 2315 c.2202C>T c.(2200-2202)ttC>ttT p.F734F NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 734 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCTCTGTCTTGAACAGGGCCT 0.637000 27 14 0 0 0.007291 0 0 KL 9365 broad.mit.edu 37 13 33638149 33638149 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr13:33638149C>T ENST00000380099.3 + 5 2873 c.2865C>T c.(2863-2865)ggC>ggT p.G955G KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 955 aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GTTTCCCGGGCCCAGAAACTC 0.443000 33 54 0 0 0.002445 0 0 CHD1 1105 broad.mit.edu 37 5 98223809 98223809 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:98223809G>A ENST00000284049.3 - 16 2628 c.2479C>T c.(2479-2481)Cgt>Tgt p.R827C NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 827 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GGGAATTGACGATATTTCAAA 0.289000 9 27 0 0 0.000978 0 0 PLCL2 23228 broad.mit.edu 37 3 17052710 17052710 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:17052710C>T ENST00000418129.2 + 2 1959 c.1494C>T c.(1492-1494)atC>atT p.I498I PLCL2_ENST00000396755.2_Silent_p.I498I|PLCL2_ENST00000432376.1_Silent_p.I498I NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 624 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGGTCAGCATCTGCAAATCAG 0.433000 10 40 0 0 0.006214 0 0 KRT31 3881 broad.mit.edu 37 17 39551241 39551241 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:39551241G>A ENST00000251645.2 - 6 1008 c.956C>T c.(955-957)aCc>aTc p.T319I NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 319 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) CTCCACGTTGGTGATCAGGCT 0.617000 24 38 0 0 0.002780 0 0 CD80 941 broad.mit.edu 37 3 119256003 119256003 + Missense_Mutation SNP C C G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:119256003C>G ENST00000264246.3 - 4 1043 c.681G>C c.(679-681)caG>caC p.Q227H CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.Q227H|CD80_ENST00000478182.1_Missense_Mutation_p.Q227H NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 227 Ig-like C2-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) AGTTGAAGGTCTGATTCACTC 0.368000 73 41 0 0 0.003610 0 0 MRC2 9902 broad.mit.edu 37 17 60757548 60757548 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:60757548C>T ENST00000303375.5 + 15 2718 c.2316C>T c.(2314-2316)ttC>ttT p.F772F NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 772 C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 ACCACAATTTCGACCGGAGCC 0.647000 41 35 0 0 0.009718 0 0 ADAM18 8749 broad.mit.edu 37 8 39494794 39494794 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:39494794G>A ENST00000265707.5 + 8 645 c.600G>A c.(598-600)atG>atA p.M200I ADAM18_ENST00000379866.1_Intron|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 200 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ATGATTATATGGGATCTGAAA 0.274000 15 24 0 0 0.003163 0 0 MTUS2 23281 broad.mit.edu 37 13 29599853 29599853 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr13:29599853C>T ENST00000431530.3 + 1 1106 c.1048C>T c.(1048-1050)Ctg>Ttg p.L350L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 340 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGAAGAGAATCTGTCAGCCTT 0.562000 20 32 0 0 0.008871 0 0 COL22A1 169044 broad.mit.edu 37 8 139839024 139839024 + Splice_Site SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:139839024C>T ENST00000303045.6 - 6 1292 c.845_splice c.e6-1 p.E282_splice COL22A1_ENST00000435777.1_Splice_Site_p.E282_splice NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 282 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGAACACATCCCTGGAGAAAA 0.522000 HNSCC(7;0.00092) 12 24 0 0 0.001855 0 0 OR11H4 390442 broad.mit.edu 37 14 20711325 20711325 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:20711325G>A ENST00000315409.2 + 1 428 c.375G>A c.(373-375)ctG>ctA p.L125L NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) GTCTCTTTCTGGCAGTAATGG 0.463000 34 49 0 0 0.002096 0 0 LETMD1 25875 broad.mit.edu 37 12 51447632 51447632 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:51447632C>T ENST00000418425.2 + 4 520 c.501C>T c.(499-501)gtC>gtT p.V167V LETMD1_ENST00000262055.4_Silent_p.V154V|LETMD1_ENST00000550929.1_Silent_p.V98V|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000552739.1_Intron NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 154 LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 ACTACCTGGTCTTCTTGCTAA 0.368000 41 123 0 0 0.003610 0 0 KRT78 196374 broad.mit.edu 37 12 53237949 53237949 + Silent SNP C C T rs140207612 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:53237949C>T ENST00000359499.4 - 6 656 c.645G>A c.(643-645)acG>acA p.T215T KRT78_ENST00000304620.4_Silent_p.T325T Q8N1N4 K2C78_HUMAN keratin 78 325 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TCTGGACTTTCGTTTCCTGCA 0.532000 51 104 0 0 0.003610 0 0 FADS6 283985 broad.mit.edu 37 17 72888728 72888728 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:72888728C>T ENST00000310226.6 - 2 293 c.279G>A c.(277-279)aaG>aaA p.K93K NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 99 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GGTGGCTGCCCTTGACAGTGA 0.592000 4 10 0 0 0.009096 0 0 ACAP1 9744 broad.mit.edu 37 17 7245641 7245641 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:7245641C>T ENST00000158762.3 + 4 485 c.279C>T c.(277-279)agC>agT p.S93S ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 93 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 AGCTGGACAGCCATGCGGTAA 0.567000 21 41 0 0 0.003330 0 0 OR6M1 390261 broad.mit.edu 37 11 123676126 123676126 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:123676126C>T ENST00000309154.2 - 1 969 c.932G>A c.(931-933)aGg>aAg p.R311K NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TCAAGTTTTCCTTTGTATCAA 0.378000 11 71 0 0 0.000978 0 0 PTGER3 5733 broad.mit.edu 37 1 71439984 71439984 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:71439984C>T ENST00000306666.5 - 3 1375 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Missense_Mutation_p.E389K|PTGER3_ENST00000351052.5_Missense_Mutation_p.E418K|PTGER3_ENST00000414819.1_Missense_Mutation_p.E389K|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000354608.5_Intron NM_198719.1 NP_942012.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 389 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) tctcacctttccaaatggtcg 0.483000 5 43 0 0 0.003080 0 0 VPS4A 27183 broad.mit.edu 37 16 69354183 69354183 + Nonsense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:69354183C>T ENST00000254950.11 + 7 916 c.760C>T c.(760-762)Cag>Tag p.Q254* VPS4A_ENST00000569775.1_3'UTR|COG8_ENST00000564419.1_5'UTR|RP11-343C2.3_ENST00000570054.2_Nonsense_Mutation_p.Q278* NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 254 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) GTTCTTGGTCCAGATGCAGGG 0.572000 20 51 0 0 0.001882 0 0 OR56B1 387748 broad.mit.edu 37 11 5758272 5758272 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:5758272G>A ENST00000317121.3 + 1 592 c.526G>A c.(526-528)Gat>Aat p.D176N TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) AGCACAGCGTGATTATTGCTC 0.463000 13 53 0 0 0.002450 0 0 LZTFL1 54585 broad.mit.edu 37 3 45872564 45872564 + Splice_Site SNP C C G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:45872564C>G ENST00000296135.6 - 6 697 c.e6+1 LZTFL1_ENST00000539217.1_Splice_Site|LZTFL1_ENST00000536047.1_Splice_Site|LZTFL1_ENST00000490463.1_Splice_Site NM_001276378.1|NM_020347.2 NP_001263307.1|NP_065080.1 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) TTCTCAGTTACCTGTATTTCA 0.299000 12 19 0 0 0.001855 0 0 SCN8A 6334 broad.mit.edu 37 12 52159697 52159697 + Silent SNP C C G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:52159697C>G ENST00000354534.5 + 16 2965 c.2787C>G c.(2785-2787)gtC>gtG p.V929V SCN8A_ENST00000550891.1_Silent_p.V929V|SCN8A_ENST00000545061.1_Silent_p.V929V NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 929 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCCTCATTGTCTTTCGAGTGT 0.488000 99 188 0 0 0.003610 0 0 OR1D5 8386 broad.mit.edu 37 17 2966538 2966538 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:2966538G>A ENST00000575751.1 - 1 363 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_014566.1 NP_055381.1 P58170 OR1D5_HUMAN olfactory receptor, family 1, subfamily D, member 5 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(2) kidney(1)|lung(10) 11 GCCACATAGCGATCATACGCC 0.567000 19 32 0 0 0.001882 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71277230 71277230 + Missense_Mutation SNP G G T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:71277230G>T ENST00000398531.1 + 1 622 c.597G>T c.(595-597)caG>caT p.Q199H KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 199 keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 TGTGCTGCCAGTGTAAGATCT 0.547000 44 27 1.19451e-25 1.26162e-25 0.003610 1 0 OR4C46 119749 broad.mit.edu 37 11 51516171 51516171 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:51516171G>A ENST00000328188.1 + 1 890 c.890G>A c.(889-891)aGg>aAg p.R297K NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 AATGCCATCAGGAAATTGTGT 0.348000 7 23 0 0 0.003080 0 0 NGEF 25791 broad.mit.edu 37 2 233785073 233785073 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:233785073T>C ENST00000264051.3 - 5 1027 c.749A>G c.(748-750)aAc>aGc p.N250S NGEF_ENST00000409079.1_Missense_Mutation_p.N158S|NGEF_ENST00000373552.4_Missense_Mutation_p.N158S NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 250 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) CTGCCAGAGGTTGAACCTTGA 0.617000 41 85 0 0 0.002522 0 0 AFP 174 broad.mit.edu 37 4 74313228 74313228 + Missense_Mutation SNP A A T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:74313228A>T ENST00000395792.2 + 8 993 c.893A>T c.(892-894)aAa>aTa p.K298I AFP_ENST00000226359.2_Missense_Mutation_p.K298I NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 298 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTGTCAAACAAAATAACAGAA 0.323000 Alpha-Fetoprotein, Hereditary Persistence of 17 24 0 0 0.007413 0 0 F8 2157 broad.mit.edu 37 X 154194287 154194287 + Silent SNP G G A rs149756842 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:154194287G>A ENST00000360256.4 - 9 1601 c.1401C>T c.(1399-1401)atC>atT p.I467I F8_ENST00000483822.1_5'UTR NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 467 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGGTCCCAAGATTCCTGATT 0.408000 53 20 0 0 0.003610 0 0 OR52B6 340980 broad.mit.edu 37 11 5602813 5602813 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:5602813C>T ENST00000345043.2 + 1 707 c.707C>T c.(706-708)tCc>tTc p.S236F HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTACTGTTTCCTACATCCAC 0.502000 41 150 0 0 0.009718 0 0 SPEG 10290 broad.mit.edu 37 2 220349085 220349085 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:220349085C>T ENST00000312358.7 + 30 7032 c.6900C>T c.(6898-6900)ccC>ccT p.P2300P AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2300 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCGGGGGTCCCCCGGTGCTAG 0.692000 12 14 0 0 0.001855 0 0 MUC17 140453 broad.mit.edu 37 7 100686896 100686896 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:100686896C>T ENST00000306151.4 + 3 12263 c.12199C>T c.(12199-12201)Cct>Tct p.P4067S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4067 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTACATTTCCTCCTGCTCA 0.547000 114 47 0 0 0.003610 0 0 TRAV18 28665 broad.mit.edu 37 14 22471408 22471408 + RNA SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:22471408G>A ENST00000390446.3 + 0 64 CTTTCGGTTTGGATATCTCTC 0.398000 15 29 0 0 0.003163 0 0 MYH8 4626 broad.mit.edu 37 17 10304076 10304076 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:10304076C>T ENST00000403437.2 - 27 3460 c.3366G>A c.(3364-3366)ggG>ggA p.G1122G CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1122 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGATTTCTTCCCCCAGCTCCT 0.522000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 20 32 0 0 0.008871 0 0 XRN2 22803 broad.mit.edu 37 20 21335488 21335488 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:21335488C>T ENST00000377191.3 + 21 2093 c.1998C>T c.(1996-1998)taC>taT p.Y666Y XRN2_ENST00000539513.1_Silent_p.Y612Y|XRN2_ENST00000430571.2_Silent_p.Y590Y NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 666 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 AAGAGGTATACCCAGACCTCA 0.408000 11 30 0 0 0.000978 0 0 SLC36A2 153201 broad.mit.edu 37 5 150696437 150696437 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:150696437C>T ENST00000335244.4 - 10 1522 c.1393G>A c.(1393-1395)Gag>Aag p.E465K SLC36A2_ENST00000450886.1_Missense_Mutation_p.E189K NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 465 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGAGCAGCTCGTCCAGGGCC 0.572000 38 6 0 0 0.004289 0 0 MGA 23269 broad.mit.edu 37 15 42028814 42028814 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:42028814C>T ENST00000219905.7 + 13 4533 c.4352C>T c.(4351-4353)cCt>cTt p.P1451L MGA_ENST00000566586.1_Missense_Mutation_p.P1451L|MGA_ENST00000570161.1_Missense_Mutation_p.P1451L|MGA_ENST00000545763.1_Missense_Mutation_p.P1451L|MGA_ENST00000389936.4_Missense_Mutation_p.P1451L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1451 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAAGGTCTGCCTTTTTATGCA 0.473000 14 24 0 0 0.001855 0 0 GPR112 139378 broad.mit.edu 37 X 135426739 135426739 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:135426739C>T ENST00000394143.1 + 6 1165 c.874C>T c.(874-876)Cca>Tca p.P292S GPR112_ENST00000370652.1_Missense_Mutation_p.P292S|GPR112_ENST00000287534.4_Missense_Mutation_p.P229S|GPR112_ENST00000412101.1_Missense_Mutation_p.P87S|GPR112_ENST00000394141.1_Missense_Mutation_p.P87S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 292 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TACAACATCTCCACCTCTGGA 0.368000 36 51 0 0 0.005524 0 0 RLF 6018 broad.mit.edu 37 1 40702018 40702018 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:40702018G>A ENST00000372771.4 + 8 1671 c.1644G>A c.(1642-1644)caG>caA p.Q548Q NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 548 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AAAGATATCAGAGGTGGCTTC 0.348000 33 43 0 0 0.003271 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452924 64452924 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:64452924G>A ENST00000394323.2 - 2 981 c.481C>T c.(481-483)Cca>Tca p.P161S NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 161 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 gttgttactggggaatcggtg 0.443000 45 100 0 0 0.008740 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55290103 55290103 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:55290103G>A ENST00000336077.6 + 5 744 c.704G>A c.(703-705)aGc>aAc p.S235N KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S235N NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 235 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) ACTGAACCAAGCTCCAAAACC 0.512000 72 44 0 0 0.003610 0 0 CD80 941 broad.mit.edu 37 3 119256110 119256110 + Missense_Mutation SNP C C A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:119256110C>A ENST00000264246.3 - 4 936 c.574G>T c.(574-576)Gat>Tat p.D192Y CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.D192Y|CD80_ENST00000478182.1_Missense_Mutation_p.D192Y NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 192 Ig-like C2-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) GTTTCAGGATCTTGGGAAACT 0.418000 76 45 3.82405e-32 4.06937e-32 0.003610 1 0 GFI1B 8328 broad.mit.edu 37 9 135865214 135865214 + Missense_Mutation SNP C C G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:135865214C>G ENST00000339463.3 + 10 1553 c.734C>G c.(733-735)aCg>aGg p.T245R GFI1B_ENST00000372124.1_Missense_Mutation_p.T199R|GFI1B_ENST00000372123.1_Missense_Mutation_p.T199R|GFI1B_ENST00000450530.1_Missense_Mutation_p.T245R|GFI1B_ENST00000534944.1_Missense_Mutation_p.T199R|GFI1B_ENST00000372122.1_Missense_Mutation_p.T245R Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 245 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CACTCAGACACGCGGCCCTAC 0.612000 23 10 0 0 0.001882 0 0 DENND5A 23258 broad.mit.edu 37 11 9199768 9199768 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:9199768G>A ENST00000328194.3 - 8 2137 c.1817C>T c.(1816-1818)tCc>tTc p.S606F DENND5A_ENST00000530044.1_Missense_Mutation_p.S606F|DENND5A_ENST00000526523.1_5'UTR NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 606 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTCAACTCGGGAATCAAATAC 0.448000 31 142 0 0 0.002096 0 0 C17orf98 388381 broad.mit.edu 37 17 36991564 36991564 + Missense_Mutation SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:36991564A>G ENST00000398575.4 - 3 408 c.343T>C c.(343-345)Tac>Cac p.Y115H NM_001080465.2 NP_001073934.1 A8MV24 CQ098_HUMAN chromosome 17 open reading frame 98 115 endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3) 14 TCAGCATTGTAGTGGTCATGC 0.577000 36 52 0 0 0.004289 0 0 GDF2 2658 broad.mit.edu 37 10 48414162 48414162 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:48414162C>T ENST00000249598.1 - 2 865 c.706G>A c.(706-708)Ggc>Agc p.G236S NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 236 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GTGTCGCAGCCCTTCCTGTGG 0.577000 21 16 0 0 0.010504 0 0 INADL 10207 broad.mit.edu 37 1 62350026 62350026 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:62350026C>T ENST00000371158.2 + 22 3191 c.3077C>T c.(3076-3078)tCc>tTc p.S1026F INADL_ENST00000316485.6_Missense_Mutation_p.S1026F NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1026 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CGAGTTATTTCCAAGGCCTCA 0.408000 62 77 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55540286 55540286 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:55540286C>T ENST00000220676.1 + 4 3992 c.3844C>T c.(3844-3846)Cct>Tct p.P1282S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1282 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CACTTTTTTTCCTAGTGATGG 0.408000 82 67 0 0 0.003610 0 0 PTK7 5754 broad.mit.edu 37 6 43098071 43098071 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:43098071C>T ENST00000230419.4 + 4 795 c.574C>T c.(574-576)Cct>Tct p.P192S PTK7_ENST00000349241.2_Missense_Mutation_p.P192S|PTK7_ENST00000481273.1_Missense_Mutation_p.P200S|PTK7_ENST00000471863.1_Missense_Mutation_p.P192S|PTK7_ENST00000345201.2_Missense_Mutation_p.P192S|PTK7_ENST00000352931.2_Missense_Mutation_p.P192S NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 192 Ig-like C2-type 2. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GCCAGCTGGTCCTGAGCATAG 0.592000 28 16 0 0 0.006320 0 0 RTP2 344892 broad.mit.edu 37 3 187416342 187416342 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:187416342G>A ENST00000358241.1 - 2 1050 c.622C>T c.(622-624)Ctc>Ttc p.L208F NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 208 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) AGCAGGCAGAGAGAGGCCCAG 0.582000 34 25 0 0 0.003755 0 0 PTPRB 5787 broad.mit.edu 37 12 70949899 70949899 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:70949899G>A ENST00000334414.6 - 19 4788 c.4744C>T c.(4744-4746)Cgg>Tgg p.R1582W PTPRB_ENST00000550857.1_Missense_Mutation_p.R1274W|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1494W|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1274W|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1274W|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1364W NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1364 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTCTGAGGCCGGCAATGCAGG 0.453000 17 20 0 0 0.007413 0 0 RYR1 6261 broad.mit.edu 37 19 38973691 38973691 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:38973691C>T ENST00000355481.4 + 32 4776 c.4645C>T c.(4645-4647)Cct>Tct p.P1549S RYR1_ENST00000360985.3_Missense_Mutation_p.P1549S|RYR1_ENST00000359596.3_Missense_Mutation_p.P1549S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1549 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TAAGCTATTTCCTGCCGTCTT 0.582000 49 18 0 0 0.003610 0 0 RSF1 51773 broad.mit.edu 37 11 77409717 77409717 + Nonsense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:77409717G>A ENST00000308488.6 - 7 2832 c.2530C>T c.(2530-2532)Cga>Tga p.R844* RSF1_ENST00000480887.1_Nonsense_Mutation_p.R592*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.R813* Q96T23 RSF1_HUMAN remodeling and spacing factor 1 844 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding p.R844*(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CCAGTCCATCGAACTTTGCCT 0.368000 16 64 0 0 0.008871 0 0 PKD1L1 168507 broad.mit.edu 37 7 47880163 47880163 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:47880163C>T ENST00000289672.2 - 35 5498 c.5448G>A c.(5446-5448)gtG>gtA p.V1816V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1816 PLAT. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AAACAATGTACACCTCAAAAC 0.507000 20 57 0 0 0.008871 0 0 PTPRB 5787 broad.mit.edu 37 12 70949900 70949900 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:70949900G>A ENST00000334414.6 - 19 4787 c.4743C>T c.(4741-4743)tgC>tgT p.C1581C PTPRB_ENST00000550857.1_Silent_p.C1273C|PTPRB_ENST00000550358.1_Silent_p.C1493C|PTPRB_ENST00000538708.1_Silent_p.C1273C|PTPRB_ENST00000451516.2_Silent_p.C1273C|PTPRB_ENST00000261266.5_Silent_p.C1363C NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1363 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCTGAGGCCGGCAATGCAGGT 0.458000 17 19 0 0 0.007413 0 0 CEP250 11190 broad.mit.edu 37 20 34091962 34091962 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:34091962G>A ENST00000397527.1 + 30 6485 c.5765G>A c.(5764-5766)aGg>aAg p.R1922K CEP250_ENST00000342580.4_Missense_Mutation_p.R1866K NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1922 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GTGGAGACCAGGGCCCTGCAG 0.632000 10 27 0 0 0.000978 0 0 MXRA5 25878 broad.mit.edu 37 X 3240033 3240033 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:3240033C>T ENST00000217939.6 - 5 3847 c.3693G>A c.(3691-3693)cgG>cgA p.R1231R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1231 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTGTTTTCTCCGTGGTGTTC 0.488000 47 29 0 0 0.003610 0 0 TNFRSF8 943 broad.mit.edu 37 1 12183362 12183362 + Missense_Mutation SNP C C T rs148865579 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:12183362C>T ENST00000263932.2 + 9 1190 c.968C>T c.(967-969)aCc>aTc p.T323I TNFRSF8_ENST00000417814.2_Missense_Mutation_p.T212I NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 323 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AAGGACACCACCTTTGAGGCG 0.612000 16 17 0 0 0.006122 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222293 118222293 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:118222293G>A ENST00000402510.2 - 11 2899 c.2900C>T c.(2899-2901)cCa>cTa p.P967L NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 967 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CATGCTCTTTGGAGATGAGGA 0.458000 23 35 0 0 0.002780 0 0 CUX2 23316 broad.mit.edu 37 12 111785777 111785777 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:111785777G>A ENST00000261726.6 + 22 4263 c.4109G>A c.(4108-4110)gGg>gAg p.G1370E NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1370 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGTGAGGCCGGGGAGCGACTT 0.607000 65 51 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179392293 179392293 + Nonsense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:179392293G>A ENST00000589042.1 - 362 107784 c.107560C>T c.(107560-107562)Caa>Taa p.Q35854* TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q33286*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q34213*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q26981*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q26789*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q26914*|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34213 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) GACATGCTTTGGGCAGACATG 0.453000 14 79 0 0 0.002450 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148743682 148743682 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:148743682C>T ENST00000514349.1 + 2 688 c.109C>T c.(109-111)Ctg>Ttg p.L37L PCYOX1L_ENST00000274569.4_Silent_p.L127L Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 127 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACTGGTACCTGCTGAACCT 0.612000 39 15 0 0 0.004878 0 0 COL26A1 136227 broad.mit.edu 37 7 101183258 101183258 + RNA SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:101183258G>A ENST00000313669.7 + 0 724 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 GACCTGGAATGAGGACTTCCT 0.662000 5 46 0 0 0.001168 0 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 4 8 0 0 0.009096 0 0 PSRC1 84722 broad.mit.edu 37 1 109824520 109824520 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:109824520C>T ENST00000438534.2 - 4 378 c.240G>A c.(238-240)gaG>gaA p.E80E PSRC1_ENST00000369903.2_Silent_p.E80E|PSRC1_ENST00000409138.2_Silent_p.E80E|PSRC1_ENST00000369904.3_Silent_p.E80E|PSRC1_ENST00000369909.2_Silent_p.E80E|PSRC1_ENST00000369907.3_Silent_p.E80E|PSRC1_ENST00000409267.1_Silent_p.E80E NM_001005290.3 NP_001005290.1 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 80 cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) GCCGGTTGGCCTCATCGAGGA 0.682000 54 261 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141719032 141719032 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:141719032C>T ENST00000475668.2 + 4 415 c.361C>T c.(361-363)Ccc>Tcc p.P121S MGAM_ENST00000549489.2_Missense_Mutation_p.P121S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 121 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTGCTGGAATCCCCAGGGAGC 0.453000 22 158 0 0 0.001882 0 0 ZNF595 152687 broad.mit.edu 37 4 59415 59415 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:59415G>A ENST00000509152.2 + 2 281 c.96G>A c.(94-96)gtG>gtA p.V32V ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.V32V zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ATAGAGATGTGATGTTGGAGA 0.428000 35 462 0 0 0.004878 0 0 C1orf173 127254 broad.mit.edu 37 1 75072544 75072544 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:75072544C>T ENST00000326665.5 - 10 1448 c.1230G>A c.(1228-1230)ccG>ccA p.P410P C1orf173_ENST00000420661.2_Silent_p.P213P|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 410 p.P410P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCTAGATTTCGGCAAAGACG 0.413000 53 44 0 0 0.003610 0 0 PLB1 151056 broad.mit.edu 37 2 28804976 28804976 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:28804976G>A ENST00000327757.5 + 24 1652 c.1608G>A c.(1606-1608)aaG>aaA p.K536K PLB1_ENST00000329020.6_Silent_p.K224K|PLB1_ENST00000422425.2_Intron NM_153021.4 NP_694566.4 Q6P1J6 PLB1_HUMAN phospholipase B1 536 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ACATTGGAAAGGCCCTGGACA 0.522000 36 47 0 0 0.006230 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175707 143175707 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:143175707C>T ENST00000408916.1 + 1 742 c.742C>T c.(742-744)Ctg>Ttg p.L248L EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 248 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TCTGTCCTTTCTGTCCCTGAT 0.512000 17 116 0 0 0.008871 0 0 NPAT 4863 broad.mit.edu 37 11 108059962 108059962 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:108059962G>A ENST00000278612.8 - 6 532 c.427C>T c.(427-429)Ctt>Ttt p.L143F NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 143 Interaction with MIZF.|Required for activation of histone gene transcription and interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGTCCTGAAAGGTAAGGTAAA 0.468000 52 49 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179610452 179610452 + Missense_Mutation SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:179610452A>G ENST00000360870.5 - 46 16897 c.16675T>C c.(16675-16677)Ttc>Ctc p.F5559L TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9028 Ig-like 36. 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) TCAACAGTGAACCTTCTTCCT 0.418000 23 62 0 0 0.002299 0 0 F8 2157 broad.mit.edu 37 X 154176015 154176015 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:154176015G>A ENST00000360256.4 - 13 2271 c.2071C>T c.(2071-2073)Cca>Tca p.P691S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 691 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CCTGAGAATGGGAATAGGGTG 0.403000 45 23 0 0 0.002522 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713650 70713650 + RNA SNP T T G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:70713650T>G ENST00000530196.1 - 0 868 NR_003951.1 ATACATGGAATCCACTATGTT 0.368000 24 44 0 0 0.003954 0 0 GABRG1 2565 broad.mit.edu 37 4 46043129 46043129 + Missense_Mutation SNP C C T rs75184362 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:46043129C>T ENST00000295452.4 - 9 1441 c.1274G>A c.(1273-1275)gGa>gAa p.G425E NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 425 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCTCCAAGATCCTGTTCTGCA 0.408000 51 60 0 0 0.003610 0 0 OR51A4 401666 broad.mit.edu 37 11 4968129 4968129 + Silent SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:4968129A>G ENST00000380373.2 - 1 227 c.202T>C c.(202-204)Ttg>Ctg p.L68L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GACATAGCCAACATGGAAAGA 0.418000 43 40 0 0 0.009718 0 0 PIGV 55650 broad.mit.edu 37 1 27121193 27121193 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:27121193C>T ENST00000374145.1 + 3 1350 c.668C>T c.(667-669)tCt>tTt p.S223F PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Missense_Mutation_p.S223F NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 223 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) GGCTTTTTCTCTTCTCTAACG 0.507000 48 43 0 0 0.002852 0 0 NEB 4703 broad.mit.edu 37 2 152500514 152500514 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:152500514C>T ENST00000397345.3 - 57 7976 c.7774G>A c.(7774-7776)Gac>Aac p.D2592N NEB_ENST00000409198.1_Missense_Mutation_p.D2592N|NEB_ENST00000172853.10_Missense_Mutation_p.D2592N|NEB_ENST00000604864.1_Missense_Mutation_p.D2592N|NEB_ENST00000603639.1_Missense_Mutation_p.D2592N|NEB_ENST00000427231.2_Missense_Mutation_p.D2592N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2592 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTCAAAGTCCTTCTTGTAC 0.542000 132 352 0 0 0.003610 0 0 BICD2 23299 broad.mit.edu 37 9 95480126 95480126 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:95480126C>T ENST00000356884.6 - 6 2278 c.2211G>A c.(2209-2211)aaG>aaA p.K737K BICD2_ENST00000375512.3_Silent_p.K737K NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 737 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGCGTCCTCCTTGAGGGCCT 0.592000 41 12 0 0 0.006999 0 0 ZNF334 55713 broad.mit.edu 37 20 45130734 45130734 + Missense_Mutation SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:45130734A>G ENST00000457685.2 - 6 2453 c.1130T>C c.(1129-1131)tTt>tCt p.F377S ZNF334_ENST00000593880.1_Missense_Mutation_p.F438S|ZNF334_ENST00000347606.4_Missense_Mutation_p.F415S Q9HCZ1 ZN334_HUMAN zinc finger protein 334 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) AGATTGACAAAAGAAGGTTTT 0.428000 36 68 0 0 0.003271 0 0 PASK 23178 broad.mit.edu 37 2 242077391 242077391 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:242077391G>A ENST00000403638.3 - 6 944 c.853C>T c.(853-855)Cct>Tct p.P285S PASK_ENST00000544142.1_Missense_Mutation_p.P99S|PASK_ENST00000539818.1_Missense_Mutation_p.P69S|PASK_ENST00000234040.4_Missense_Mutation_p.P285S|PASK_ENST00000405260.1_Missense_Mutation_p.P285S|PASK_ENST00000358649.4_Missense_Mutation_p.P285S NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 285 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TGGCCAGAAGGAGGGAGCTGC 0.562000 28 37 0 0 0.006320 0 0 EIF2D 1939 broad.mit.edu 37 1 206770466 206770466 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:206770466C>T ENST00000271764.2 - 12 1580 c.1372G>A c.(1372-1374)Gac>Aac p.D458N EIF2D_ENST00000367114.3_Missense_Mutation_p.D334N|EIF2D_ENST00000472709.2_5'UTR NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 458 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 AGAAGACTGTCCCATGGAAGC 0.428000 15 8 0 0 0.007413 0 0 NXF3 56000 broad.mit.edu 37 X 102338427 102338427 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:102338427G>A ENST00000395065.3 - 5 540 c.439C>T c.(439-441)Cac>Tac p.H147Y NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.H58Y NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 147 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTTTCATAGTGAAACTATAGG 0.468000 25 18 0 0 0.002780 0 0 QPRT 23475 broad.mit.edu 37 16 29708339 29708339 + Missense_Mutation SNP C C G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:29708339C>G ENST00000395384.4 + 3 733 c.572C>G c.(571-573)gCg>gGg p.A191G QPRT_ENST00000219771.7_3'UTR|QPRT_ENST00000562473.1_Missense_Mutation_p.A43G NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 191 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) GCCAGACAGGCGGCTGACTTC 0.687000 12 18 0 0 0.001855 0 0 CCDC66 285331 broad.mit.edu 37 3 56627732 56627732 + Missense_Mutation SNP A A C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:56627732A>C ENST00000394672.3 + 9 1352 c.1282A>C c.(1282-1284)Att>Ctt p.I428L CCDC66_ENST00000436465.2_Missense_Mutation_p.I428L|CCDC66_ENST00000326595.7_Missense_Mutation_p.I394L NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 428 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) AGCAAAACCTATTAAGGATGT 0.413000 55 21 0 0 0.003610 0 0 GUCY2C 2984 broad.mit.edu 37 12 14796584 14796584 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:14796584G>A ENST00000261170.3 - 17 1990 c.1854C>T c.(1852-1854)acC>acT p.T618T NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 618 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CTACGCAGTTGGTAGATTTCA 0.388000 51 57 0 0 0.003610 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997484 19997484 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:19997484C>T ENST00000391403.2 - 1 394 c.291G>A c.(289-291)ttG>ttA p.L97L NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 97 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGGTTGCCTCCAAACTTTGTG 0.368000 73 113 0 0 0.003610 0 0 ENOX2 10495 broad.mit.edu 37 X 129813711 129813711 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:129813711G>A ENST00000338144.3 - 7 769 c.352C>T c.(352-354)Cct>Tct p.P118S ENOX2_ENST00000370927.1_Missense_Mutation_p.P118S|ENOX2_ENST00000370935.1_Missense_Mutation_p.P89S|ENOX2_ENST00000394363.1_Missense_Mutation_p.P89S|ENOX2_ENST00000492263.1_5'UTR NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 118 Pro-rich. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 CGGGTTGCAGGAGGTGGGAGA 0.443000 25 40 0 0 0.005443 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 62 23 0 0 0.003610 0 0 PTBP3 9991 broad.mit.edu 37 9 114989800 114989800 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:114989800G>A ENST00000334318.6 - 13 1534 c.1348C>T c.(1348-1350)Ctg>Ttg p.L450L PTBP3_ENST00000374257.1_Silent_p.L419L|PTBP3_ENST00000458258.1_Silent_p.L453L|PTBP3_ENST00000343327.2_Silent_p.L352L|PTBP3_ENST00000374255.2_Silent_p.L447L NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 447 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding TCCTTAGTCAGACCTTGGTCT 0.453000 50 20 0 0 0.003610 0 0 TTC9 23508 broad.mit.edu 37 14 71134317 71134317 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:71134317G>A ENST00000256367.2 + 2 786 c.443G>A c.(442-444)cGa>cAa p.R148Q NM_015351.1 NP_056166.1 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 148 binding skin(1) 1 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) AACTATGAACGAGTCAAGGAA 0.522000 13 70 0 0 0.001855 0 0 ACSL5 51703 broad.mit.edu 37 10 114164518 114164518 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:114164518C>T ENST00000393081.1 + 5 693 c.386C>T c.(385-387)tCa>tTa p.S129L ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000433418.1_Missense_Mutation_p.S129L|ACSL5_ENST00000354273.4_Missense_Mutation_p.S129L|ACSL5_ENST00000354655.4_Missense_Mutation_p.S129L|ACSL5_ENST00000356116.1_Missense_Mutation_p.S185L NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 129 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GGTTATAAATCATCACCAGAC 0.413000 80 40 0 0 0.003610 0 0 MYOM2 9172 broad.mit.edu 37 8 2037919 2037919 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:2037919G>A ENST00000262113.4 + 15 1874 c.1733G>A c.(1732-1734)gGg>gAg p.G578E MYOM2_ENST00000523438.1_Missense_Mutation_p.G3E NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 578 Fibronectin type-III 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTCATGGAAGGGAAGTCTTAT 0.577000 25 59 0 0 0.003330 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14796356 14796356 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:14796356G>A ENST00000447268.2 + 17 1840 c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K ANKRD30B_ENST00000358984.4_Silent_p.R623R|ANKRD30B_ENST00000579292.1_Intron Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 0 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CCTGTGGAAGGAAAGTTTCTC 0.274000 4 3 0 0 0.009096 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866146 131866146 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:131866146G>A ENST00000359827.3 - 18 4448 c.3486C>T c.(3484-3486)atC>atT p.I1162I PLXNA4_ENST00000321063.4_Silent_p.I1162I Q9HCM2 PLXA4_HUMAN plexin A4 1162 IPT/TIG 4. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCACCTTTAGGATGATGGGCG 0.562000 166 62 0 0 0.003610 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 83 0 0 0.009096 0 0 RHBDF2 79651 broad.mit.edu 37 17 74473796 74473796 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:74473796G>A ENST00000591885.1 - 7 1294 c.744C>T c.(742-744)ttC>ttT p.F248F RHBDF2_ENST00000389760.4_Silent_p.F248F|RHBDF2_ENST00000313080.4_Silent_p.F277F Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 277 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 CCTCCTCCAGGAAGCTCGGGA 0.632000 32 42 0 0 0.002096 0 0 TTN 7273 broad.mit.edu 37 2 179398792 179398792 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:179398792C>T ENST00000589042.1 - 358 102774 c.102550G>A c.(102550-102552)Gaa>Aaa p.E34184K TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31616K|TTN_ENST00000591111.1_Missense_Mutation_p.E32543K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25311K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25119K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25244K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32543 Ser-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E25311K(1)|p.E31614K(1)|p.E25119K(1) 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) TAGGTGATTTCGTATTTCTCA 0.403000 46 72 0 0 0.003610 0 0 GRID1 2894 broad.mit.edu 37 10 87487638 87487638 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:87487638C>T ENST00000327946.7 - 10 1592 c.1507G>A c.(1507-1509)Ggg>Agg p.G503R GRID1_ENST00000536331.1_Missense_Mutation_p.G74R NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 503 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCGATCATCCCGTTCCAGGAG 0.537000 Multiple Myeloma(13;0.14) 33 14 0 0 0.002836 0 0 TCF23 150921 broad.mit.edu 37 2 27375716 27375716 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:27375716C>T ENST00000296096.5 + 3 756 c.626C>T c.(625-627)cCa>cTa p.P209L NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 209 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACTCTCACCAGCTCTTGGT 0.537000 77 91 0 0 0.003610 0 0 EFTUD2 9343 broad.mit.edu 37 17 42964082 42964082 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:42964082G>A ENST00000426333.2 - 3 439 c.142C>T c.(142-144)Cat>Tat p.H48Y EFTUD2_ENST00000402521.3_Missense_Mutation_p.H13Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H48Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H48Y|EFTUD2_ENST00000589211.1_5'UTR NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 48 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) tcatcgtcatgatctcctacg 0.512000 16 25 0 0 0.004007 0 0 IGLV9-49 28773 broad.mit.edu 37 22 22697959 22697959 + RNA SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr22:22697959C>T ENST00000427632.2 + 0 284 GGATGGCATCCCTGATCGCTT 0.557000 OREG0026357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 32 0 0 0.003080 0 0 SLC26A3 1811 broad.mit.edu 37 7 107427286 107427286 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:107427286C>T ENST00000340010.5 - 8 1141 c.957G>A c.(955-957)ggG>ggA p.G319G SLC26A3_ENST00000422236.2_Silent_p.G284G NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 319 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GATTCATGTCCCCAACCACAG 0.468000 90 50 0 0 0.003610 0 0 IMPAD1 54928 broad.mit.edu 37 8 57878821 57878821 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:57878821G>A ENST00000262644.4 - 4 995 c.737C>T c.(736-738)tCa>tTa p.S246L NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 246 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GACCATCCCTGAATGGGAACG 0.498000 41 53 0 0 0.007835 0 0 NUP160 23279 broad.mit.edu 37 11 47843330 47843330 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:47843330G>A ENST00000378460.2 - 9 1269 c.1223C>T c.(1222-1224)gCc>gTc p.A408V NUP160_ENST00000528501.1_5'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.A294V|NUP160_ENST00000530326.1_Missense_Mutation_p.A294V NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 408 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 ATGCCACAGGGCCCAGATATC 0.413000 13 68 0 0 0.003163 0 0 PPFIA1 8500 broad.mit.edu 37 11 70208222 70208222 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:70208222C>T ENST00000253925.7 + 20 2819 c.2604C>T c.(2602-2604)gcC>gcT p.A868A AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.A868A NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 868 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGGAGGAAGCCCGGAGACAAG 0.483000 15 64 0 0 0.004007 0 0 CD80 941 broad.mit.edu 37 3 119256060 119256060 + Missense_Mutation SNP C C G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:119256060C>G ENST00000264246.3 - 4 986 c.624G>C c.(622-624)atG>atC p.M208I CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.M208I|CD80_ENST00000478182.1_Missense_Mutation_p.M208I NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 208 Ig-like C2-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) GGTTGGTTGTCATATTGAAAT 0.403000 80 44 0 0 0.003610 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457223 110457223 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:110457223G>A ENST00000378402.5 + 38 5229 c.5125G>A c.(5125-5127)Gcc>Acc p.A1709T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1709 IPT/TIG 9. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAATTATACGGCCATTGAATG 0.458000 HNSCC(38;0.096) 77 126 0 0 0.003610 0 0 OR6K3 391114 broad.mit.edu 37 1 158687446 158687446 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:158687446G>A ENST00000368146.1 - 1 507 c.508C>T c.(508-510)Ctt>Ttt p.L170F OR6K3_ENST00000368145.1_Missense_Mutation_p.L154F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AGCAGGATAAGGAAACCGAAG 0.512000 55 17 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100684853 100684853 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:100684853G>A ENST00000306151.4 + 3 10220 c.10156G>A c.(10156-10158)Ggt>Agt p.G3386S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3386 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTGCTGAAGGTACCAGCAT 0.512000 47 477 0 0 0.003610 0 0 FRG1B 284802 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T T C rs111331725 by1000genomes TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:29628261T>C ENST00000278882.3 + 6 643 c.263T>C c.(262-264)tTt>tCt p.F88S FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363000 5 61 0 0 0.001984 0 0 KCNQ2 3785 broad.mit.edu 37 20 62065237 62065237 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:62065237G>A ENST00000354587.3 - 8 1219 c.1043C>T c.(1042-1044)gCc>gTc p.A348V KCNQ2_ENST00000344425.5_Missense_Mutation_p.A348V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A348V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A348V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.A348V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.A348V|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A348V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A348V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.A348V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.A348V|KCNQ2_ENST00000359125.2_Missense_Mutation_p.A348V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.A348V O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 348 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GAGGTTGGTGGCGTAGAATCT 0.692000 34 39 0 0 0.003271 0 0 CPEB3 22849 broad.mit.edu 37 10 93851681 93851681 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:93851681G>A ENST00000412050.4 - 8 1639 c.1551C>T c.(1549-1551)aaC>aaT p.N517N CPEB3_ENST00000265997.4_Silent_p.N531N NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 531 RRM 1. nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) TGTCACTTAGGTTCCATGGTC 0.433000 21 12 0 0 0.002780 0 0 CECR2 27443 broad.mit.edu 37 22 18028750 18028750 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr22:18028750C>T ENST00000262608.8 + 16 3710 c.3710C>T c.(3709-3711)tCt>tTt p.S1237F CECR2_ENST00000400585.2_Missense_Mutation_p.S1094F|CECR2_ENST00000400573.4_Missense_Mutation_p.S1236F NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1278 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GCCTTAACTTCTCCAACCCGT 0.547000 126 93 0 0 0.003610 0 0 DOK1 1796 broad.mit.edu 37 2 74782574 74782574 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:74782574C>T ENST00000233668.5 + 2 1023 c.354C>T c.(352-354)gcC>gcT p.A118A DOK1_ENST00000340004.6_Silent_p.A118A|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_5'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 118 PH. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GCCGAAACGCCTTTCCGGTGA 0.682000 14 12 0 0 0.001855 0 0 POLI 11201 broad.mit.edu 37 18 51820122 51820122 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:51820122C>T ENST00000579534.1 + 10 1651 c.1508C>T c.(1507-1509)cCa>cTa p.P503L POLI_ENST00000217800.5_Missense_Mutation_p.P377L|POLI_ENST00000406285.3_Missense_Mutation_p.P424L|POLI_ENST00000579434.1_Missense_Mutation_p.P400L|POLI_ENST00000582366.1_3'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 503 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AGGGAGTCTCCACTAGATACC 0.383000 DNA polymerases (catalytic subunits) 4 11 0 0 0.009096 0 0 COL4A5 1287 broad.mit.edu 37 X 107923941 107923941 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chrX:107923941G>A ENST00000328300.6 + 45 4219 c.3975G>A c.(3973-3975)atG>atA p.M1325I COL4A5_ENST00000361603.2_Missense_Mutation_p.M1319I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1319 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCAATGGAATGAAAGGAGATC 0.443000 Alport syndrome with Diffuse Leiomyomatosis 17 19 0 0 0.007413 0 0 AP3B2 8120 broad.mit.edu 37 15 83346062 83346062 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:83346062G>A ENST00000261722.3 - 13 1659 c.1452C>T c.(1450-1452)atC>atT p.I484I RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.I484I|AP3B2_ENST00000535348.1_Silent_p.I452I NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 484 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) AGTGTTTGATGATCTCTCCAT 0.453000 3 21 0 0 0.004672 0 0 C17orf78 284099 broad.mit.edu 37 17 35743032 35743032 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:35743032G>A ENST00000300618.4 + 4 527 c.477G>A c.(475-477)ggG>ggA p.G159G ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000416895.1_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 159 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) TAACTCCTGGGAATAAAGAAG 0.383000 5 13 0 0 0.000602 0 0 WDFY3 23001 broad.mit.edu 37 4 85617207 85617207 + Silent SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:85617207T>C ENST00000322366.6 - 57 9173 c.8766A>G c.(8764-8766)caA>caG p.Q2922Q WDFY3_ENST00000295888.4_Silent_p.Q2939Q Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2939 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGATATCCACTTGACCCTCAT 0.393000 14 58 0 0 0.001855 0 0 CNGB3 54714 broad.mit.edu 37 8 87683294 87683294 + Missense_Mutation SNP A A T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:87683294A>T ENST00000320005.5 - 4 418 c.371T>A c.(370-372)aTa>aAa p.I124K NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 124 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATACTCATTTATAACAGGAGC 0.418000 95 204 0 0 0.003610 0 0 OPCML 4978 broad.mit.edu 37 11 132812919 132812919 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:132812919G>A ENST00000331898.7 - 1 647 c.69C>T c.(67-69)ttC>ttT p.F23F OPCML_ENST00000524381.1_Intron|OPCML_ENST00000541867.1_Silent_p.F23F|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Intron NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 23 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TGGGTACAAGGAACAGCAGCC 0.632000 15 41 0 0 0.004007 0 0 TENM3 55714 broad.mit.edu 37 4 183696119 183696119 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:183696119T>C ENST00000511685.1 + 24 5240 c.5117T>C c.(5116-5118)aTt>aCt p.I1706T TENM3_ENST00000406950.2_Missense_Mutation_p.I1706T teneurin transmembrane protein 3 TCCCTCAGAATTATCTACGCC 0.443000 10 15 0 0 0.008291 0 0 TENM3 55714 broad.mit.edu 37 4 183713931 183713931 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:183713931G>A ENST00000511685.1 + 26 6229 c.6106G>A c.(6106-6108)Gaa>Aaa p.E2036K TENM3_ENST00000406950.2_Missense_Mutation_p.E2036K teneurin transmembrane protein 3 TGTGATCAATGAAACGCCACT 0.393000 52 110 0 0 0.003610 0 0 GPR85 54329 broad.mit.edu 37 7 112724154 112724154 + Missense_Mutation SNP A A T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:112724154A>T ENST00000501255.2 - 3 1246 c.623T>A c.(622-624)tTc>tAc p.F208Y GPR85_ENST00000449591.1_Missense_Mutation_p.F208Y|GPR85_ENST00000424100.1_Missense_Mutation_p.F208Y|GPR85_ENST00000297146.2_Missense_Mutation_p.F208Y NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 208 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 ATCGTGGACGAAAAATATCAG 0.502000 16 77 0 0 0.003163 0 0 MACROD2 140733 broad.mit.edu 37 20 15967391 15967391 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:15967391G>A ENST00000217246.4 + 14 1400 c.1005G>A c.(1003-1005)acG>acA p.T335T MACROD2_ENST00000402914.1_Silent_p.T100T|MACROD2_ENST00000407045.3_5'UTR|MACROD2_ENST00000310348.4_Silent_p.T335T|MACROD2_ENST00000378058.3_Silent_p.T100T NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 335 Glu-rich. T -> M (in dbSNP:rs41275442). breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) ATGATTCAACGAAGAATGAAA 0.338000 12 13 0 0 0.001368 0 0 SEMA3D 223117 broad.mit.edu 37 7 84647598 84647598 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:84647598G>A ENST00000284136.6 - 13 1558 c.1515C>T c.(1513-1515)atC>atT p.I505I SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 505 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGTTCAAGATGATTGATGAGT 0.284000 6 42 0 0 0.004482 0 0 NEB 4703 broad.mit.edu 37 2 152521954 152521954 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:152521954G>A ENST00000397345.3 - 42 5333 c.5131C>T c.(5131-5133)Ctt>Ttt p.L1711F NEB_ENST00000409198.1_Missense_Mutation_p.L1711F|NEB_ENST00000172853.10_Missense_Mutation_p.L1711F|NEB_ENST00000604864.1_Missense_Mutation_p.L1711F|NEB_ENST00000603639.1_Missense_Mutation_p.L1711F|NEB_ENST00000427231.2_Missense_Mutation_p.L1711F NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1711 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTCACTAAGAATCTCTCCT 0.473000 10 24 0 0 0.008291 0 0 MMP15 4324 broad.mit.edu 37 16 58073843 58073843 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:58073843C>T ENST00000219271.3 + 4 1290 c.505C>T c.(505-507)Cgc>Tgc p.R169C NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 169 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGGGCCTTCCGCGTGTGGGA 0.637000 31 18 0 0 0.002836 0 0 UBN2 254048 broad.mit.edu 37 7 138968702 138968702 + Silent SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:138968702T>C ENST00000288561.8 + 15 3051 c.2802T>C c.(2800-2802)gcT>gcC p.A934A UBN2_ENST00000473989.2_Silent_p.A1017A NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1017 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TAGCCAAGGCTATGGTGTCAC 0.527000 15 107 0 0 0.004007 0 0 ACAP1 9744 broad.mit.edu 37 17 7245642 7245642 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:7245642C>T ENST00000158762.3 + 4 486 c.280C>T c.(280-282)Cat>Tat p.H94Y ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 94 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GCTGGACAGCCATGCGGTAAG 0.562000 21 39 0 0 0.003330 0 0 NPC1 4864 broad.mit.edu 37 18 21141326 21141326 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:21141326G>A ENST00000269228.5 - 5 1183 c.629C>T c.(628-630)tCa>tTa p.S210L NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 210 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATACCTACCTGAAAACACAGG 0.458000 55 91 0 0 0.003610 0 0 MYO15A 51168 broad.mit.edu 37 17 18058014 18058014 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:18058014C>T ENST00000205890.5 + 45 8507 c.8169C>T c.(8167-8169)tcC>tcT p.S2723S MYO15A_ENST00000585180.1_5'UTR|MYO15A_ENST00000418233.3_5'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2723 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ACACGCTCTCCGAGGCCTGCC 0.597000 25 36 0 0 0.004656 0 0 MTUS1 57509 broad.mit.edu 37 8 17611259 17611259 + Missense_Mutation SNP C C A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:17611259C>A ENST00000381869.3 - 2 2531 c.2058G>T c.(2056-2058)atG>atT p.M686I MTUS1_ENST00000519263.1_Missense_Mutation_p.M686I|MTUS1_ENST00000381862.3_Missense_Mutation_p.M686I|MTUS1_ENST00000262102.6_Missense_Mutation_p.M686I NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 686 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) AAGTCTCATTCATAATCTCTT 0.343000 10 26 1.76689e-08 1.84542e-08 0.006214 1 0 MUC5B 727897 broad.mit.edu 37 11 1271266 1271266 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:1271266C>T ENST00000447027.1 + 31 13223 c.13165C>T c.(13165-13167)Ccg>Tcg p.P4389S MUC5B_ENST00000529681.1_Missense_Mutation_p.P4386S Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4386 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCTCCACTCCGGGGACGAC 0.672000 21 64 0 0 0.001882 0 0 EPB41 2035 broad.mit.edu 37 1 29314233 29314233 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:29314233C>T ENST00000343067.4 + 2 411 c.284C>T c.(283-285)tCc>tTc p.S95F EPB41_ENST00000373798.1_Missense_Mutation_p.S95F|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.S95F|EPB41_ENST00000356093.2_Missense_Mutation_p.S95F|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S95F|EPB41_ENST00000398863.2_Missense_Mutation_p.S95F NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 95 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) TCTCAGGTGTCCGAGGAAGAA 0.423000 64 60 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179402438 179402438 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:179402438C>T ENST00000589042.1 - 355 99720 c.99496G>A c.(99496-99498)Gaa>Aaa p.E33166K TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30598K|TTN_ENST00000591111.1_Missense_Mutation_p.E31525K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24293K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24101K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24226K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31525 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) CCTTCATCTTCCTGTTCCTCT 0.438000 15 44 0 0 0.002450 0 0 ANK1 286 broad.mit.edu 37 8 41577290 41577290 + Missense_Mutation SNP G G C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:41577290G>C ENST00000396942.1 - 10 1079 c.996C>G c.(994-996)gaC>gaG p.D332E ANK1_ENST00000352337.4_Missense_Mutation_p.D332E|ANK1_ENST00000347528.4_Missense_Mutation_p.D332E|ANK1_ENST00000396945.1_Missense_Mutation_p.D332E|ANK1_ENST00000379758.2_Missense_Mutation_p.D332E|ANK1_ENST00000289734.7_Missense_Mutation_p.D332E|ANK1_ENST00000265709.8_Missense_Mutation_p.D365E P16157 ANK1_HUMAN ankyrin 1, erythrocytic 332 89 kDa domain. D -> H (in a breast cancer sample; somatic mutation). axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGGTGATGTCGTCTATCTCTG 0.587000 71 119 0 0 0.003610 0 0 SFXN1 94081 broad.mit.edu 37 5 174937146 174937146 + Missense_Mutation SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:174937146A>G ENST00000321442.5 + 4 624 c.370A>G c.(370-372)Aac>Gac p.N124D SFXN1_ENST00000502393.1_Missense_Mutation_p.N124D NM_022754.5 NP_073591.2 Q9H9B4 SFXN1_HUMAN sideroflexin 1 124 iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCAGTGGATTAACCAGTCCTT 0.532000 10 6 0 0 0.000978 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174613 150174613 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:150174613C>T ENST00000307271.3 + 5 2317 c.1743C>T c.(1741-1743)aaC>aaT p.N581N NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 581 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCATGAAGAACTCAGATAACA 0.488000 22 143 0 0 0.001882 0 0 NAAA 27163 broad.mit.edu 37 4 76861192 76861192 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:76861192C>T ENST00000286733.4 - 2 434 c.333G>A c.(331-333)gcG>gcA p.A111A NAAA_ENST00000507956.1_Silent_p.A111A|NAAA_ENST00000507187.2_Silent_p.A111A|NAAA_ENST00000505594.1_Silent_p.A10A|NAAA_ENST00000399497.3_Silent_p.A111A NM_014435.3 NP_055250.2 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase 111 lipid metabolic process lysosome hydrolase activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 GAAGGCAGTCCGCCAGGCTGA 0.642000 29 43 0 0 0.007291 0 0 MTHFD1 4522 broad.mit.edu 37 14 64892780 64892780 + Missense_Mutation SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:64892780A>G ENST00000555709.1 + 11 1384 c.997A>G c.(997-999)Aag>Gag p.K333E MTHFD1_ENST00000216605.7_Missense_Mutation_p.K389E|MTHFD1_ENST00000555252.1_Missense_Mutation_p.K313E|MTHFD1_ENST00000545908.1_Missense_Mutation_p.K389E|CTD-2555O16.2_ENST00000556640.1_RNA NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 333 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GCCCATTGGTAAGCTGGCTCG 0.403000 24 35 0 0 0.003330 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879438 39879438 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:39879438G>A ENST00000530275.1 + 1 3288 c.3093G>A c.(3091-3093)gaG>gaA p.E1031E MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1031 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCACCCCCGAGGAATCTGCCT 0.667000 5 28 0 0 0.001984 0 0 ATRN 8455 broad.mit.edu 37 20 3540071 3540071 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:3540071C>T ENST00000262919.5 + 7 1212 c.1144C>T c.(1144-1146)Cta>Tta p.L382L ATRN_ENST00000446916.2_Silent_p.L382L NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 382 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GTGGCTTCCACTAAACCGTTC 0.368000 26 52 0 0 0.005443 0 0 LINGO2 158038 broad.mit.edu 37 9 27950069 27950069 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:27950069G>A ENST00000379992.2 - 6 1050 c.601C>T c.(601-603)Cgc>Tgc p.R201C LINGO2_ENST00000308675.3_Missense_Mutation_p.R201C NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 201 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) ATGAGGCTGCGGAGGTGGGAG 0.468000 31 9 0 0 0.004289 0 0 CHGB 1114 broad.mit.edu 37 20 5903556 5903556 + Nonsense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:5903556C>T ENST00000378961.4 + 4 970 c.766C>T c.(766-768)Caa>Taa p.Q256* NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 256 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GTCTAAAGGCCAACCCCGAAG 0.587000 11 8 0 0 0.008291 0 0 RNF152 220441 broad.mit.edu 37 18 59483490 59483490 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:59483490G>A ENST00000312828.3 - 2 1306 c.207C>T c.(205-207)ctC>ctT p.L69L NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 69 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GGTCGTCCGGGAGCTGCGACA 0.627000 12 20 0 0 0.000978 0 0 DSCAM 1826 broad.mit.edu 37 21 42080415 42080415 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr21:42080415C>T ENST00000400454.1 - 2 803 c.326G>A c.(325-327)gGg>gAg p.G109E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 109 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCTAATTTTCCCTGAAGGATT 0.448000 18 62 0 0 0.008871 0 0 SETD5 55209 broad.mit.edu 37 3 9517239 9517239 + Missense_Mutation SNP C C A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:9517239C>A ENST00000402466.1 + 24 4267 c.3499C>A c.(3499-3501)Cat>Aat p.H1167N SETD5_ENST00000402198.1_Missense_Mutation_p.H1265N|SETD5_ENST00000406341.1_Missense_Mutation_p.H1265N|SETD5_ENST00000407969.1_Missense_Mutation_p.H1284N|SETD5_ENST00000302463.6_Missense_Mutation_p.H1167N Q9C0A6 SETD5_HUMAN SET domain containing 5 1265 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CTTCAGAGGACATCCTACACA 0.507000 8 63 0.00307968 0.0031929 0.003080 1 0 FSTL5 56884 broad.mit.edu 37 4 162841804 162841804 + Splice_Site SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:162841804C>T ENST00000306100.5 - 4 597 c.160_splice c.e4-1 p.G54_splice FSTL5_ENST00000427802.2_Splice_Site_p.G53_splice|FSTL5_ENST00000536695.1_Splice_Site_p.G53_splice|FSTL5_ENST00000379164.4_Splice_Site_p.G53_splice NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 54 extracellular region calcium ion binding p.G54V(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AATCATAAATCCTGAAGAATT 0.343000 12 22 0 0 0.001855 0 0 KRT35 3886 broad.mit.edu 37 17 39635641 39635641 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:39635641G>A ENST00000246639.2 - 3 711 c.579C>T c.(577-579)tcC>tcT p.S193S KRT35_ENST00000393989.1_Silent_p.S223S Q92764 KRT35_HUMAN keratin 35 223 Coil 1B.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCTCCTTCAGGGACTCCACCT 0.607000 26 43 0 0 0.007291 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274316 103274316 + Missense_Mutation SNP G G A rs61743555 byFrequency TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:103274316G>A ENST00000233969.2 + 2 725 c.583G>A c.(583-585)Gaa>Aaa p.E195K NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 195 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CTGCCAGATCGAAGCATTCGG 0.478000 149 158 0 0 0.003610 0 0 PTPRG 5793 broad.mit.edu 37 3 62253112 62253112 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:62253112C>T ENST00000474889.1 + 18 3061 c.2684C>T c.(2683-2685)cCt>cTt p.P895L PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P866L|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 895 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AAGTTAAGACCTTTACCAGGA 0.323000 12 132 0 0 0.002450 0 0 GRHL2 79977 broad.mit.edu 37 8 102570691 102570691 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:102570691G>A ENST00000251808.3 + 4 667 c.329G>A c.(328-330)gGa>gAa p.G110E GRHL2_ENST00000395927.1_Missense_Mutation_p.G94E NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 110 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TTGAGTGGAGGAGAAAACCGA 0.463000 48 64 0 0 0.003610 0 0 SSH1 54434 broad.mit.edu 37 12 109181953 109181953 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:109181953G>A ENST00000326495.5 - 15 3054 c.2961C>T c.(2959-2961)ttC>ttT p.F987F SSH1_ENST00000360239.3_Silent_p.F675F NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 987 Interaction with YWHAG. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTTCCGTTGAGAAGGTGAGAC 0.602000 123 127 0 0 0.003610 0 0 UBE2I 7329 broad.mit.edu 37 16 1370213 1370213 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:1370213C>T ENST00000355803.4 + 5 813 c.262C>T c.(262-264)Cct>Tct p.P88S LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000566587.1_Missense_Mutation_p.P88S|UBE2I_ENST00000325437.5_Missense_Mutation_p.P88S|UBE2I_ENST00000406620.1_Missense_Mutation_p.P88S|UBE2I_ENST00000397515.2_Missense_Mutation_p.P88S|UBE2I_ENST00000403747.2_Missense_Mutation_p.P88S|UBE2I_ENST00000402301.1_Missense_Mutation_p.P88S|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P88S NM_194260.2 NP_919236.1 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 88 VYPS -> GVPF (in Ref. 6; AAC50603). cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) GAATGTGTACCCTTCGGGGAC 0.552000 14 47 0 0 0.002450 0 0 C7 730 broad.mit.edu 37 5 40945325 40945325 + Missense_Mutation SNP A A C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:40945325A>C ENST00000313164.9 + 7 952 c.593A>C c.(592-594)tAt>tCt p.Y198S NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 198 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GATTTTAATTATGAATTTTAC 0.303000 7 7 0 0 0.001984 0 0 TBX18 9096 broad.mit.edu 37 6 85457732 85457732 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:85457732G>A ENST00000369663.5 - 5 1182 c.845C>T c.(844-846)tCt>tTt p.S282F TBX18_ENST00000606784.1_Missense_Mutation_p.S124F|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 282 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTTGATGGGAGAAAGATCGTC 0.448000 6 20 0 0 0.001168 0 0 DHCR7 1717 broad.mit.edu 37 11 71152330 71152330 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:71152330G>A ENST00000355527.3 - 6 845 c.569C>T c.(568-570)gCc>gTc p.A190V DHCR7_ENST00000407721.2_Missense_Mutation_p.A190V NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 190 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GGTGGAGACGGCATAGCCAAG 0.557000 Smith-Lemli-Opitz syndrome 18 64 0 0 0.001882 0 0 NCOR2 9612 broad.mit.edu 37 12 124870393 124870393 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:124870393C>T ENST00000356219.3 - 18 2072 c.1917G>A c.(1915-1917)cgG>cgA p.R639R NCOR2_ENST00000404621.1_Silent_p.R638R|NCOR2_ENST00000429285.2_Silent_p.R638R|NCOR2_ENST00000405201.1_Silent_p.R639R|NCOR2_ENST00000404121.2_Silent_p.R209R|NCOR2_ENST00000397355.1_Silent_p.R639R NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 639 SANT 2. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) AGCCCACCATCCGGGCGATGG 0.592000 28 68 0 0 0.006320 0 0 C7 730 broad.mit.edu 37 5 40945307 40945307 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:40945307T>C ENST00000313164.9 + 7 934 c.575T>C c.(574-576)aTa>aCa p.I192T NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 192 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TAGGTGAAAATAAATAATGAT 0.303000 4 2 0 0 0.009096 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 4 96 0 0 0.009096 0 0 MAP4K3 8491 broad.mit.edu 37 2 39507459 39507459 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:39507459G>A ENST00000263881.3 - 23 1992 c.1668C>T c.(1666-1668)ccC>ccT p.P556P MAP4K3_ENST00000341681.5_Silent_p.P535P|MAP4K3_ENST00000536018.1_Silent_p.P109P|MAP4K3_ENST00000437545.1_Silent_p.P472P NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 556 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GAATTTTCAAGGGACACCCAT 0.328000 27 26 0 0 0.002096 0 0 OR9A2 135924 broad.mit.edu 37 7 142724187 142724187 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:142724187G>A ENST00000350513.2 - 1 95 c.33C>T c.(31-33)ttC>ttT p.F11F NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) CTAGAAGGTGGAATTCAGTGG 0.428000 46 30 0 0 0.003610 0 0 CDH16 1014 broad.mit.edu 37 16 66949202 66949202 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:66949202C>T ENST00000299752.4 - 6 697 c.504G>A c.(502-504)ctG>ctA p.L168L CDH16_ENST00000394055.3_Silent_p.L168L|CDH16_ENST00000565796.1_Silent_p.L168L|CDH16_ENST00000570262.1_Silent_p.L88L|CDH16_ENST00000568632.1_Intron NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 168 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GAGCCTGGCTCAGGATGTGGA 0.647000 15 48 0 0 0.003163 0 0 CLIP4 79745 broad.mit.edu 37 2 29386787 29386787 + Missense_Mutation SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:29386787A>G ENST00000320081.5 + 13 1880 c.1625A>G c.(1624-1626)tAt>tGt p.Y542C CLIP4_ENST00000401605.1_Missense_Mutation_p.Y542C|CLIP4_ENST00000404424.1_Missense_Mutation_p.Y542C|CLIP4_ENST00000401617.2_Missense_Mutation_p.Y435C NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 542 CAP-Gly 2. endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TCTCCAAGATATGGAATATTT 0.388000 22 48 0 0 0.001882 0 0 PADI6 353238 broad.mit.edu 37 1 17727845 17727845 + RNA SNP T T G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:17727845T>G ENST00000434762.2 + 0 2047 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGACTTTGACTGTTACCTGAC 0.542000 12 40 0 0 0.000978 0 0 NCOA6 23054 broad.mit.edu 37 20 33328797 33328797 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:33328797G>A ENST00000374796.2 - 12 7833 c.5263C>T c.(5263-5265)Cct>Tct p.P1755S NCOA6_ENST00000359003.2_Missense_Mutation_p.P1755S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1755 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GGATGAGAAGGGACAACTGGA 0.527000 31 48 0 0 0.008361 0 0 BAI3 577 broad.mit.edu 37 6 70071078 70071078 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:70071078G>A ENST00000370598.1 + 29 4734 c.3913G>A c.(3913-3915)Gaa>Aaa p.E1305K BAI3_ENST00000546190.1_Missense_Mutation_p.E269K|BAI3_ENST00000238918.8_Missense_Mutation_p.E511K NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1305 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AAGAATGATGGAAAGTGACTA 0.388000 22 24 0 0 0.010504 0 0 CLDN23 137075 broad.mit.edu 37 8 8560416 8560416 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:8560416C>T ENST00000519106.1 + 1 969 c.508C>T c.(508-510)Ctg>Ttg p.L170L NM_194284.2 NP_919260.2 Q96B33 CLD23_HUMAN claudin 23 170 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2) 2 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) CAGCTGCCTCCTGCTGCTGGG 0.741000 9 5 0 0 0.006214 0 0 SAMD4A 23034 broad.mit.edu 37 14 55168907 55168907 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr14:55168907C>T ENST00000251091.5 + 2 629 c.324C>T c.(322-324)atC>atT p.I108I SAMD4A_ENST00000554335.1_Silent_p.I108I|SAMD4A_ENST00000357634.3_Silent_p.I107I|SAMD4A_ENST00000392067.3_Silent_p.I108I|SAMD4A_ENST00000555112.1_3'UTR NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 108 I -> T (in Ref. 3; AAH57838). positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 TGCCCAAAATCCTGGCTCACT 0.473000 21 38 0 0 0.002299 0 0 EPHB6 2051 broad.mit.edu 37 7 142568056 142568056 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:142568056G>A ENST00000392957.2 + 18 3484 c.2697G>A c.(2695-2697)caG>caA p.Q899Q EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Silent_p.Q899Q|EPHB6_ENST00000411471.2_Silent_p.Q622Q NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 899 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) ACACTTGGCAGAAGGACCGTG 0.592000 52 268 0 0 0.003610 0 0 ZNF217 7764 broad.mit.edu 37 20 52198662 52198662 + Missense_Mutation SNP C C A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:52198662C>A ENST00000371471.2 - 2 1129 c.704G>T c.(703-705)cGc>cTc p.R235L ZNF217_ENST00000302342.3_Missense_Mutation_p.R235L O75362 ZN217_HUMAN zinc finger protein 217 235 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GTGCACCTTGCGGTGCTCAAT 0.522000 84 92 1.86864e-30 1.98104e-30 0.003610 1 0 VPS13B 157680 broad.mit.edu 37 8 100115224 100115224 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr8:100115224C>T ENST00000395996.1 + 5 567 c.456C>T c.(454-456)aaC>aaT p.N152N VPS13B_ENST00000441350.2_Silent_p.N152N|VPS13B_ENST00000358544.2_Silent_p.N152N|VPS13B_ENST00000357162.2_Silent_p.N152N|VPS13B_ENST00000355155.1_Silent_p.N152N Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 152 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATAATGTAAACATTGTGATAA 0.289000 11 70 0 0 0.001368 0 0 MED1 5469 broad.mit.edu 37 17 37563941 37563941 + Silent SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:37563941A>G ENST00000300651.6 - 17 4756 c.4533T>C c.(4531-4533)gaT>gaC p.D1511D MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1511 Lys-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ctcggtccctatctttgtctt 0.443000 HNSCC(31;0.082) 15 33 0 0 0.002450 0 0 PDZD2 23037 broad.mit.edu 37 5 31983492 31983492 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:31983492C>T ENST00000438447.1 + 3 1096 c.708C>T c.(706-708)ggC>ggT p.G236G PDZD2_ENST00000282493.3_Silent_p.G236G O15018 PDZD2_HUMAN PDZ domain containing 2 236 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AATCCAAGGGCAGCGCTGGCT 0.572000 23 58 0 0 0.003330 0 0 LAIR1 3903 broad.mit.edu 37 19 54866989 54866989 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:54866989T>C ENST00000391743.3 - 9 978 c.698A>G c.(697-699)tAt>tGt p.Y233C LAIR1_ENST00000474878.1_Missense_Mutation_p.Y233C|LAIR1_ENST00000348231.4_Missense_Mutation_p.Y234C|LAIR1_ENST00000313038.6_Missense_Mutation_p.Y244C|LAIR1_ENST00000391742.2_Missense_Mutation_p.Y251C|LAIR1_ENST00000434277.2_Missense_Mutation_p.Y250C Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 251 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CAGCTGAGCATACGTCACCTC 0.652000 42 10 0 0 0.009718 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135095737 135095737 + Missense_Mutation SNP A A C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:135095737A>C ENST00000368563.2 - 16 2755 c.2399T>G c.(2398-2400)cTc>cGc p.L800R TUBGCP2_ENST00000368562.1_Missense_Mutation_p.L393R|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.L828R|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.L670R|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.L800R NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 800 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CTTCCTGGCGAGCTCCTTCCG 0.682000 8 8 0 0 0.003080 0 0 SDK2 54549 broad.mit.edu 37 17 71415334 71415334 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:71415334C>T ENST00000392650.3 - 16 2157 c.2157G>A c.(2155-2157)caG>caA p.Q719Q SDK2_ENST00000388726.3_Silent_p.Q719Q NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 719 Fibronectin type-III 2. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GAATTCCATTCTGGTGGCTCT 0.617000 17 6 0 0 0.006122 0 0 MGAT5B 146664 broad.mit.edu 37 17 74944062 74944062 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:74944062T>C ENST00000569840.2 + 17 2648 c.2074T>C c.(2074-2076)Tgg>Cgg p.W692R MGAT5B_ENST00000428789.2_Missense_Mutation_p.W701R|MGAT5B_ENST00000301618.4_Missense_Mutation_p.W690R NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 692 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTGCGGGCCTGGCTGGCCGT 0.697000 7 14 0 0 0.001984 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809378 18809378 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:18809378G>A ENST00000400664.1 + 1 1955 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 635 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCGTGCCAAGGAAATCTTCGT 0.711000 10 17 0 0 0.008291 0 0 COMMD4 54939 broad.mit.edu 37 15 75632106 75632106 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:75632106C>T ENST00000267935.8 + 7 645 c.446C>T c.(445-447)tCc>tTc p.S149F COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.S127F|COMMD4_ENST00000338995.6_Intron NM_017828.3 NP_060298.2 Q9H0A8 COMD4_HUMAN COMM domain containing 4 149 COMM. cytoplasm protein binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 CTGCTGCAATCCGTGGAAGAG 0.627000 19 24 0 0 0.008871 0 0 VPS26A 9559 broad.mit.edu 37 10 70928257 70928257 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:70928257C>T ENST00000373382.1 + 9 1393 c.740C>T c.(739-741)cCa>cTa p.P247L VPS26A_ENST00000395098.1_Intron|VPS26A_ENST00000263559.6_Missense_Mutation_p.P247L|VPS26A_ENST00000546041.1_Missense_Mutation_p.P230L|VPS26A_ENST00000541711.1_Missense_Mutation_p.P136L|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_Intron O75436 VP26A_HUMAN vacuolar protein sorting 26 homolog A (S. pombe) 247 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GAATCAATTCCAATAAGGCTA 0.318000 20 22 0 0 0.010504 0 0 ATRN 8455 broad.mit.edu 37 20 3540072 3540072 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr20:3540072T>C ENST00000262919.5 + 7 1213 c.1145T>C c.(1144-1146)cTa>cCa p.L382P ATRN_ENST00000446916.2_Missense_Mutation_p.L382P NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 382 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TGGCTTCCACTAAACCGTTCT 0.363000 26 54 0 0 0.005443 0 0 NUP188 23511 broad.mit.edu 37 9 131765638 131765638 + Missense_Mutation SNP G G C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr9:131765638G>C ENST00000372577.2 + 38 4360 c.4339G>C c.(4339-4341)Gag>Cag p.E1447Q NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1447 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GGCCTGCCTGGAGGAGGCGGA 0.572000 13 84 0 0 0.001855 0 0 HDAC4 9759 broad.mit.edu 37 2 240033331 240033331 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:240033331G>A ENST00000345617.3 - 14 2645 c.1854C>T c.(1852-1854)ccC>ccT p.P618P HDAC4_ENST00000541256.1_Silent_p.P592P|HDAC4_ENST00000543185.1_Silent_p.P202P NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 618 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CGAAGGACACGGGGATGCCGG 0.692000 10 7 0 0 0.000978 0 0 PSRC1 84722 broad.mit.edu 37 1 109824519 109824519 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:109824519C>T ENST00000438534.2 - 4 379 c.241G>A c.(241-243)Gcc>Acc p.A81T PSRC1_ENST00000369903.2_Missense_Mutation_p.A81T|PSRC1_ENST00000409138.2_Missense_Mutation_p.A81T|PSRC1_ENST00000369904.3_Missense_Mutation_p.A81T|PSRC1_ENST00000369909.2_Missense_Mutation_p.A81T|PSRC1_ENST00000369907.3_Missense_Mutation_p.A81T|PSRC1_ENST00000409267.1_Missense_Mutation_p.A81T NM_001005290.3 NP_001005290.1 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 81 cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) AGCCGGTTGGCCTCATCGAGG 0.682000 56 260 0 0 0.003610 0 0 UBE2I 7329 broad.mit.edu 37 16 1370212 1370212 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:1370212C>T ENST00000355803.4 + 5 812 c.261C>T c.(259-261)taC>taT p.Y87Y LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000566587.1_Silent_p.Y87Y|UBE2I_ENST00000325437.5_Silent_p.Y87Y|UBE2I_ENST00000406620.1_Silent_p.Y87Y|UBE2I_ENST00000397515.2_Silent_p.Y87Y|UBE2I_ENST00000403747.2_Silent_p.Y87Y|UBE2I_ENST00000402301.1_Silent_p.Y87Y|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Silent_p.Y87Y NM_194260.2 NP_919236.1 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 87 VYPS -> GVPF (in Ref. 6; AAC50603). cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) CGAATGTGTACCCTTCGGGGA 0.552000 14 47 0 0 0.002450 0 0 DNAH8 1769 broad.mit.edu 37 6 38980260 38980260 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:38980260C>T ENST00000359357.3 + 89 13164 c.12910C>T c.(12910-12912)Cgt>Tgt p.R4304C DNAH8_ENST00000441566.1_Missense_Mutation_p.R4268C dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTATGATGCTCGTATACCTCA 0.408000 16 58 0 0 0.004007 0 0 IRF2 3660 broad.mit.edu 37 4 185329312 185329312 + Splice_Site SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:185329312C>T ENST00000393593.3 - 6 736 c.529_splice c.e6+1 p.V177_splice IRF2_ENST00000512020.1_Intron NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 177 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) AACAGTTTACCTATGATGTTC 0.403000 27 29 0 0 0.006320 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39411753 39411753 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr22:39411753C>T ENST00000361441.3 + 2 451 c.171C>T c.(169-171)aaC>aaT p.N57N APOBEC3D_ENST00000381568.4_Intron NM_014508.2 NP_055323.2 Q9NRW3 ABC3C_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C 57 DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) TCTTCCGAAACCAGGTAGCAC 0.527000 55 26 0 0 0.003610 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239663 1239663 + Silent SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:1239663T>C ENST00000324642.3 + 6 954 c.831T>C c.(829-831)agT>agC p.S277S SLC6A18_ENST00000296821.4_Silent_p.S272S NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 277 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTTTTGCAAGTTACAACTCGC 0.582000 24 51 0 0 0.003330 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136259 40136259 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:40136259G>A ENST00000278198.2 - 2 3547 c.1584C>T c.(1582-1584)atC>atT p.I528I LRRC4C_ENST00000528697.1_Silent_p.I528I|LRRC4C_ENST00000527150.1_Silent_p.I528I|LRRC4C_ENST00000530763.1_Silent_p.I528I Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 528 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ACCCAATGATGATTTTGGTAG 0.478000 48 39 0 0 0.003610 0 0 EIF2D 1939 broad.mit.edu 37 1 206770467 206770467 + Nonsense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:206770467C>T ENST00000271764.2 - 12 1579 c.1371G>A c.(1369-1371)tgG>tgA p.W457* EIF2D_ENST00000367114.3_Nonsense_Mutation_p.W333* NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 457 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GAAGACTGTCCCATGGAAGCT 0.428000 15 8 0 0 0.008871 0 0 BAD 572 broad.mit.edu 37 11 64037608 64037608 + Missense_Mutation SNP T T C TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:64037608T>C ENST00000544785.1 - 2 389 c.389A>G c.(388-390)tAc>tGc p.Y130C BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 CTGAGGGAAGTACTTCCGCCC 0.602000 15 11 0 0 0.004990 0 0 RNF207 388591 broad.mit.edu 37 1 6279316 6279316 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr1:6279316C>T ENST00000377939.4 + 18 1881 c.1754C>T c.(1753-1755)cCg>cTg p.P585L RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_3'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 585 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GGAAGTGTCCCGGAAAAGAGA 0.502000 20 48 0 0 0.001882 0 0 POTEF 728378 broad.mit.edu 37 2 130832617 130832617 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr2:130832617G>A ENST00000357462.5 - 15 2521 c.2428C>T c.(2428-2430)Ctg>Ttg p.L810L POTEF_ENST00000409914.2_Silent_p.L810L A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 810 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TTAGGGTTCAGGGTGGCCTCG 0.587000 58 175 0 0 0.003610 0 0 ARPC1B 10095 broad.mit.edu 37 7 98985735 98985735 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:98985735G>A ENST00000451682.1 + 6 552 c.243G>A c.(241-243)ctG>ctA p.L81L ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.L81L|ARPC1B_ENST00000474880.1_3'UTR O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 81 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TGTGGACGCTGAAGGGCCGCA 0.647000 19 98 0 0 0.010504 0 0 ETS2 2114 broad.mit.edu 37 21 40191596 40191596 + Silent SNP A A G TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr21:40191596A>G ENST00000360214.3 + 9 1441 c.981A>G c.(979-981)ccA>ccG p.P327P ETS2_ENST00000360938.3_Silent_p.P327P NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 327 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TCAATAAGCCAACCATGTCTT 0.532000 9 16 0 0 0.006214 0 0 PCF11 51585 broad.mit.edu 37 11 82877448 82877448 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:82877448C>T ENST00000298281.4 + 5 1961 c.1509C>T c.(1507-1509)ccC>ccT p.P503P NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 503 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GGCGGTCACCCAAACGAAGGC 0.458000 4 64 0 0 0.000602 0 0 SLC38A1 81539 broad.mit.edu 37 12 46623403 46623403 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:46623403C>T ENST00000398637.5 - 4 836 c.142G>A c.(142-144)Gaa>Aaa p.E48K SLC38A1_ENST00000549049.1_Missense_Mutation_p.E48K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E48K|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E48K|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E48K NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 48 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CTTCTACTTTCACGATCAGAA 0.279000 52 63 0 0 0.003610 0 0 FANCE 2178 broad.mit.edu 37 6 35427183 35427183 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:35427183C>T ENST00000229769.2 + 6 1374 c.1189C>T c.(1189-1191)Cct>Tct p.P397S NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 397 DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATATACATACCCTGTCTGCAG 0.567000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 21 51 0 0 0.010504 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54117527 54117527 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:54117527G>A ENST00000548263.1 - 4 348 c.300C>T c.(298-300)ttC>ttT p.F100F CALCOCO1_ENST00000550804.1_Silent_p.F100F|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000262059.4_Silent_p.F100F Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 100 N-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 TCACATATCGGAACTGGTAGA 0.607000 17 21 0 0 0.007413 0 0 DNAH9 1770 broad.mit.edu 37 17 11648187 11648187 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:11648187C>T ENST00000262442.3 + 31 6253 c.6185C>T c.(6184-6186)cCt>cTt p.P2062L DNAH9_ENST00000454412.2_Missense_Mutation_p.P2062L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2062 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAGGAGACCCTGACCGGCCT 0.577000 15 19 0 0 0.004007 0 0 IQCJ 654502 broad.mit.edu 37 3 158983180 158983180 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:158983180C>T ENST00000482126.1 + 4 492 c.387C>T c.(385-387)ctC>ctT p.L129L IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000451172.1_Silent_p.L156L NM_001197100.1 NP_001184029.1 IQ motif containing J cervix(1)|endometrium(2)|large_intestine(2)|lung(10) 15 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) TTGGTTTTCTCACCCTCCAGT 0.478000 40 26 0 0 0.006230 0 0 KRT31 3881 broad.mit.edu 37 17 39551240 39551240 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:39551240G>A ENST00000251645.2 - 6 1009 c.957C>T c.(955-957)acC>acT p.T319T NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 319 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) ACTCCACGTTGGTGATCAGGC 0.617000 24 37 0 0 0.002780 0 0 KRT18 3875 broad.mit.edu 37 12 53344588 53344588 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr12:53344588C>T ENST00000550600.1 + 4 609 c.555C>T c.(553-555)ctC>ctT p.L185L KRT18_ENST00000388837.2_Silent_p.L185L|KRT18_ENST00000388835.3_Silent_p.L185L P05783 K1C18_HUMAN keratin 18 185 Coil 1B.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 TCCATGGGCTCCGCAAGGTCA 0.537000 9 11 0 0 0.008291 0 0 SLC7A10 56301 broad.mit.edu 37 19 33703818 33703818 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:33703818G>A ENST00000253188.3 - 3 593 c.447C>T c.(445-447)ccC>ccT p.P149P NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 149 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) TGGGGAACACGGGCTGCAGCA 0.612000 44 11 0 0 0.008740 0 0 CCKAR 886 broad.mit.edu 37 4 26491812 26491812 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:26491812C>T ENST00000295589.3 - 1 272 c.78G>A c.(76-78)acG>acA p.T26T NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 26 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AGCAGAAAAGCGTCTCATTTT 0.478000 13 31 0 0 0.001855 0 0 WDR49 151790 broad.mit.edu 37 3 167249024 167249024 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:167249024G>A ENST00000308378.3 - 9 1346 c.1041C>T c.(1039-1041)ccC>ccT p.P347P WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.P172P|WDR49_ENST00000453925.2_Silent_p.P411P NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 347 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TGGGGTGGGAGGGTTGGCTTC 0.428000 18 66 0 0 0.007413 0 0 HEXDC 284004 broad.mit.edu 37 17 80377712 80377712 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:80377712C>T ENST00000337014.6 + 2 511 c.37C>T c.(37-39)Cat>Tat p.H13Y HEXDC_ENST00000327949.9_Missense_Mutation_p.H13Y|HEXDC_ENST00000577944.1_Missense_Mutation_p.H13Y NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 13 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GAGATTAGTTCATTTAGACCT 0.433000 15 12 0 0 0.006122 0 0 APBA2 321 broad.mit.edu 37 15 29346463 29346463 + Missense_Mutation SNP G G T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:29346463G>T ENST00000558402.1 + 5 975 c.376G>T c.(376-378)Gca>Tca p.A126S APBA2_ENST00000561069.1_Missense_Mutation_p.A126S|APBA2_ENST00000558259.1_Missense_Mutation_p.A126S|APBA2_ENST00000411764.1_Missense_Mutation_p.A126S|APBA2_ENST00000558330.1_Missense_Mutation_p.A126S Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 126 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGCCCACAGTGCACACCCTGT 0.657000 16 62 9.16793e-09 9.61099e-09 0.004990 1 0 SNAP91 9892 broad.mit.edu 37 6 84375219 84375219 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:84375219C>T ENST00000428679.2 - 3 805 c.212G>A c.(211-213)aGc>aAc p.S71N SNAP91_ENST00000195649.6_Missense_Mutation_p.S71N|SNAP91_ENST00000521743.1_Missense_Mutation_p.S71N|SNAP91_ENST00000437520.1_Missense_Mutation_p.S71N|SNAP91_ENST00000521485.1_Missense_Mutation_p.S71N|SNAP91_ENST00000520302.1_Missense_Mutation_p.S71N|SNAP91_ENST00000369694.2_Missense_Mutation_p.S71N|SNAP91_ENST00000520213.1_Missense_Mutation_p.S71N|SNAP91_ENST00000439399.2_Missense_Mutation_p.S71N O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 71 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AACCACCCAGCTACTGTTTGT 0.403000 33 76 0 0 0.009535 0 0 ZNF682 91120 broad.mit.edu 37 19 20135111 20135111 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr19:20135111C>T ENST00000397165.2 - 2 238 c.78G>A c.(76-78)caG>caA p.Q26Q ZNF682_ENST00000595736.1_Intron|ZNF682_ENST00000358523.5_5'UTR|ZNF682_ENST00000593468.1_Silent_p.Q26Q|ZNF682_ENST00000397162.1_5'UTR|ZNF682_ENST00000597972.1_Silent_p.Q32Q|ZNF682_ENST00000596019.1_Silent_p.Q26Q NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TATACAAACTCTGCTGAGCAG 0.388000 32 8 0 0 0.002445 0 0 MUC3A 4584 broad.mit.edu 37 7 100608884 100608884 + Missense_Mutation SNP G G A rs73163797 by1000genomes TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr7:100608884G>A ENST00000319509.7 + 7 2263 c.2263G>A c.(2263-2265)Gcg>Acg p.A755T RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated p.A755T(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GAGCGGTCCCGCGTGTCGGTA 0.667000 10 26 0 0 0.004990 0 0 PRR11 55771 broad.mit.edu 37 17 57270947 57270947 + Missense_Mutation SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr17:57270947C>T ENST00000262293.4 + 5 809 c.497C>T c.(496-498)cCt>cTt p.P166L NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 166 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CTGATCACCCCTGGAGACTCC 0.542000 23 31 0 0 0.002299 0 0 LMCD1 29995 broad.mit.edu 37 3 8607123 8607123 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:8607123C>T ENST00000157600.3 + 5 961 c.729C>T c.(727-729)tgC>tgT p.C243C LMCD1_ENST00000397386.3_Silent_p.C131C|LMCD1_ENST00000454244.1_Silent_p.C170C|LMCD1-AS1_ENST00000439407.1_RNA NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 243 LIM zinc-binding 1. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) TCCAGGTCTGCGAGCTCTGCA 0.592000 31 165 0 0 0.002836 0 0 C10orf88 80007 broad.mit.edu 37 10 124697643 124697643 + Silent SNP C C G rs145904265 byFrequency TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr10:124697643C>G ENST00000481909.1 - 5 905 c.681G>C c.(679-681)tcG>tcC p.S227S C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 227 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TGCCCAACACCGACTGAAGCT 0.368000 15 12 0 0 0.004990 0 0 GABBR1 2550 broad.mit.edu 37 6 29571439 29571439 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr6:29571439G>A ENST00000377034.4 - 23 3102 c.2767C>T c.(2767-2769)Cgc>Tgc p.R923C GABBR1_ENST00000377012.4_Missense_Mutation_p.R806C|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Missense_Mutation_p.R806C|GABBR1_ENST00000377016.4_Missense_Mutation_p.R861C NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 923 Missing (in Ref. 7; CAA09031). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CGCCGGGAGCGGAGCTGCTGC 0.632000 6 12 0 0 0.003080 0 0 MRE11A 4361 broad.mit.edu 37 11 94192583 94192583 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr11:94192583G>A ENST00000323929.3 - 13 1713 c.1491C>T c.(1489-1491)atC>atT p.I497I MRE11A_ENST00000323977.3_Silent_p.I497I|MRE11A_ENST00000407439.3_Silent_p.I500I|MRE11A_ENST00000393241.4_Silent_p.I497I NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 497 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CCTCCTCATCGATTTTGTCTT 0.353000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 14 48 0 0 0.004007 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14796355 14796355 + Missense_Mutation SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr18:14796355G>A ENST00000358984.4 + 18 2048 c.1868G>A c.(1867-1869)aGg>aAg p.R623K ANKRD30B_ENST00000447268.2_Silent_p.K613K|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 623 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ACCTGTGGAAGGAAAGTTTCT 0.274000 4 3 0 0 0.009096 0 0 WDR17 116966 broad.mit.edu 37 4 177067188 177067188 + Silent SNP T T A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:177067188T>A ENST00000393643.2 + 12 1824 c.1572T>A c.(1570-1572)gtT>gtA p.V524V WDR17_ENST00000507824.2_Silent_p.V531V|WDR17_ENST00000508596.1_Silent_p.V524V|WDR17_ENST00000280190.4_Silent_p.V548V NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 548 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATGTTCGTGTTTATTATGTAG 0.353000 21 28 0 0 0.002780 0 0 EPHA6 285220 broad.mit.edu 37 3 97356761 97356761 + Silent SNP C C T TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr3:97356761C>T ENST00000389672.5 + 14 2657 c.2619C>T c.(2617-2619)ctC>ctT p.L873L EPHA6_ENST00000514100.1_Silent_p.L265L|EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000502694.1_Silent_p.L265L NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 778 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TCGGAATGCTCCGAGGCATTG 0.428000 24 164 0 0 0.007291 0 0 FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 6 13 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 4 1 --- --- --- --- GZMA 3001 broad.mit.edu 37 5 54405901 54405901 + Frame_Shift_Del DEL C C - TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr5:54405901delC ENST00000274306.6 + 5 715 c.680delC c.(679-681)tcfs p.S227fs NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 227 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GGGGTCACTTCCTTTGGCCTT 0.483 45 59 --- --- --- --- LINC00933 100506874 broad.mit.edu 37 15 85115422 85115423 + RNA INS - - T rs60884952 TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr15:85115422_85115423insT ENST00000557887.1 + 0 0_1 NR_038273.1|NR_038274.1 ACATAATGCTCttttttttttt 0.391 2 4 --- --- --- --- SHCBP1 79801 broad.mit.edu 37 16 46615932 46615933 + Frame_Shift_Del DEL CT CT - TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64dd81e1-35fa-4579-8a4c-f7486adbb949 5c001667-5412-4e44-806e-a1040f0f300a g.chr16:46615932_46615933delCT ENST00000303383.3 - 13 1993_1994 c.1727_1728delAG c.(1726-1728)gfs p.E576fs NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 576 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CCACATCTGGCTCTCCACTTGT 0.381 12 122 --- --- --- ---