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 DOCK10 55619 broad.mit.edu 37 2 225639746 225639746 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:225639746G>T ENST00000409592.3 - 52 5984 c.5871C>A c.(5869-5871)gaC>gaA p.D1957E DOCK10_ENST00000258390.7_Missense_Mutation_p.D1963E Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1963 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTGTCTTCCGGTCTTCGATTT 0.507000 7 14 8.12818e-05 0.000136171 0.001984 1 0 SLC17A6 57084 broad.mit.edu 37 11 22364872 22364872 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:22364872T>G ENST00000263160.3 + 3 856 c.419T>G c.(418-420)aTt>aGt p.I140S NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 140 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 ATCACTCAGATTCCGGGAGGC 0.577000 28 65 0 0 0.005443 0 0 KRT34 3885 broad.mit.edu 37 17 39535393 39535393 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:39535393C>A ENST00000394001.1 - 6 1068 c.1038G>T c.(1036-1038)gaG>gaT p.E346D NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 346 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TGTAGTGGGCCTCGCTCTCCG 0.577000 39 65 3.66082e-28 9.12703e-28 0.005524 1 0 SLC35F5 80255 broad.mit.edu 37 2 114503857 114503857 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:114503857A>T ENST00000245680.2 - 5 890 c.477T>A c.(475-477)tcT>tcA p.S159S SLC35F5_ENST00000409342.1_Silent_p.S153S NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 159 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 CACTTACCAAAGAACTATTCA 0.378000 16 39 0 0 0.003163 0 0 MDM2 4193 broad.mit.edu 37 12 69203025 69203025 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:69203025G>C ENST00000462284.1 + 2 354 c.52G>C c.(52-54)Ggt>Cgt p.G18R MDM2_ENST00000540827.1_Missense_Mutation_p.G12R|MDM2_ENST00000356290.4_Missense_Mutation_p.G12R|MDM2_ENST00000393413.3_Missense_Mutation_p.G12R|MDM2_ENST00000393410.1_Missense_Mutation_p.G12R|MDM2_ENST00000258148.7_Missense_Mutation_p.G18R|MDM2_ENST00000478070.1_Missense_Mutation_p.G7R|MDM2_ENST00000517852.1_Missense_Mutation_p.G12R|MDM2_ENST00000428863.2_Missense_Mutation_p.G12R|MDM2_ENST00000348801.2_Missense_Mutation_p.G7R|MDM2_ENST00000544561.1_Missense_Mutation_p.G12R|MDM2_ENST00000299252.4_Missense_Mutation_p.G12R|MDM2_ENST00000350057.5_Missense_Mutation_p.G12R|MDM2_ENST00000545204.1_Missense_Mutation_p.G12R|MDM2_ENST00000258149.5_Missense_Mutation_p.G12R|MDM2_ENST00000393412.3_Missense_Mutation_p.G12R|MDM2_ENST00000360430.2_Missense_Mutation_p.G12R NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 12 Necessary for interaction with USP2. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ACCTACTGATGGTGCTGTAAC 0.368000 A """sarcoma, glioma, colorectal, other""" 134 285 0 0 0.003610 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159583964 159583964 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:159583964G>A ENST00000337808.6 + 3 1349 c.772G>A c.(772-774)Gag>Aag p.E258K IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.E26K|SCHIP1_ENST00000445224.2_Missense_Mutation_p.E15K|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.E245K|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E307K|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.E218K|SCHIP1_ENST00000482804.1_Missense_Mutation_p.E31K|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.E334K NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 258 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 ACAGAAAAATGAGAGAGAGTC 0.403000 27 141 0 0 0.003954 0 0 ADCY8 114 broad.mit.edu 37 8 131861992 131861992 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:131861992G>C ENST00000286355.5 - 10 4360 c.2268C>G c.(2266-2268)gtC>gtG p.V756V ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 756 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGGTGATGAGGACCAGAGCCG 0.473000 HNSCC(32;0.087) 3 11 0 0 0.004672 0 0 CCDC129 223075 broad.mit.edu 37 7 31682573 31682573 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:31682573G>A ENST00000319386.3 + 11 2138 c.1145G>A c.(1144-1146)aGg>aAg p.R382K CCDC129_ENST00000409210.1_Missense_Mutation_p.R438K|CCDC129_ENST00000451887.2_Missense_Mutation_p.R556K|CCDC129_ENST00000407970.3_Missense_Mutation_p.R530K Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 530 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACCACCACGAGGGGAGAATGC 0.547000 56 125 0 0 0.003610 0 0 GRIA2 2891 broad.mit.edu 37 4 158256999 158256999 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:158256999G>T ENST00000296526.7 + 10 1768 c.1443G>T c.(1441-1443)tgG>tgT p.W481C GRIA2_ENST00000449365.1_Missense_Mutation_p.W434C|GRIA2_ENST00000507898.1_Missense_Mutation_p.W434C|GRIA2_ENST00000264426.9_Missense_Mutation_p.W481C|GRIA2_ENST00000393815.2_Missense_Mutation_p.W434C NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 481 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CGAAAATTTGGAATGGGATGG 0.433000 5 11 1.024e-07 1.8803e-07 0.000602 1 0 OR14A16 284532 broad.mit.edu 37 1 247978277 247978277 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247978277C>T ENST00000357627.1 - 1 754 c.755G>A c.(754-756)gGa>gAa p.G252E NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AGCAATGAATCCAGTGGAAAG 0.433000 18 22 0 0 0.000958 0 0 TTN 7273 broad.mit.edu 37 2 179392225 179392225 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:179392225A>G ENST00000589042.1 - 362 107852 c.107628T>C c.(107626-107628)aaT>aaC p.N35876N TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Silent_p.N27003N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.N26936N|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Silent_p.N34235N|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.N26811N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.N33308N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34235 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) GTTGTGTCATATTAGATATTC 0.403000 38 56 0 0 0.005524 0 0 IL13 3596 broad.mit.edu 37 5 131993925 131993925 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:131993925C>A ENST00000304506.3 + 1 61 c.47C>A c.(46-48)gCg>gAg p.A16E AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_Intron NM_002188.2 NP_002179.2 P35225 IL13_HUMAN interleukin 13 16 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1)|ovary(1)|skin(3) 6 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGCCTCATGGCGCTTTTGTTG 0.592000 OREG0003464 type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 51 5.03518e-11 9.98578e-11 0.000958 1 0 ADAM17 6868 broad.mit.edu 37 2 9666299 9666299 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:9666299C>G ENST00000310823.3 - 6 876 c.694G>C c.(694-696)Gat>Cat p.D232H ADAM17_ENST00000497134.1_Missense_Mutation_p.D232H NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 232 Peptidase M12B. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) AAGCGATGATCTGCTACCACC 0.358000 35 92 0 0 0.003755 0 0 FPGT 8790 broad.mit.edu 37 1 74670412 74670412 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:74670412C>G ENST00000370898.2 + 4 718 c.681C>G c.(679-681)ttC>ttG p.F227L FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GCCATCGTTTCCTTCATAAGC 0.403000 15 47 0 0 0.003163 0 0 SNX14 57231 broad.mit.edu 37 6 86223949 86223949 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:86223949C>A ENST00000314673.3 - 25 2572 c.2396G>T c.(2395-2397)cGg>cTg p.R799L SNX14_ENST00000346348.3_Missense_Mutation_p.R746L|SNX14_ENST00000369627.2_Missense_Mutation_p.R790L|SNX14_ENST00000505648.1_Missense_Mutation_p.R747L|SNX14_ENST00000513865.1_Missense_Mutation_p.R518L|SNX14_ENST00000508980.1_5'UTR NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 799 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) GAAAACTACCCGTCCTGAGAA 0.378000 24 50 3.5997e-14 7.62893e-14 0.002299 1 0 CYP2B6 1555 broad.mit.edu 37 19 41516003 41516003 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:41516003C>T ENST00000324071.4 + 6 934 c.927C>T c.(925-927)taC>taT p.Y309Y CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 309 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CTCTCCGCTACGGCTTCCTGC 0.562000 14 68 0 0 0.003163 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058512 95058512 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95058512G>T ENST00000329597.7 + 6 1367 c.1157G>T c.(1156-1158)aGg>aTg p.R386M SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R386M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R386M|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R386M NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 386 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GTGTTCAACAGGCCCTTTCTG 0.557000 135 323 8.32301e-65 2.16097e-64 0.003610 1 0 CSMD2 114784 broad.mit.edu 37 1 34180246 34180246 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:34180246C>A ENST00000373381.4 - 21 3523 c.3347G>T c.(3346-3348)cGc>cTc p.R1116L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1076 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCACGTGATGCGGGCGGTGCC 0.627000 158 105 2.63717e-51 6.80307e-51 0.003610 1 0 PLCL1 5334 broad.mit.edu 37 2 198950550 198950550 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:198950550A>T ENST00000428675.1 + 2 2707 c.2309A>T c.(2308-2310)cAg>cTg p.Q770L PLCL1_ENST00000437704.2_Missense_Mutation_p.Q672L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 770 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AAAACTGTACAGCAAAACAGT 0.408000 20 37 0 0 0.001216 0 0 YME1L1 10730 broad.mit.edu 37 10 27403474 27403474 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:27403474T>C ENST00000326799.3 - 19 2302 c.2154A>G c.(2152-2154)gaA>gaG p.E718E YME1L1_ENST00000376016.3_Silent_p.E661E|YME1L1_ENST00000375972.3_Silent_p.E628E NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 718 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TTATTTCTTGTTCGATGGCAG 0.328000 12 43 0 0 0.000978 0 0 SMEK1 55671 broad.mit.edu 37 14 91948115 91948115 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:91948115T>A ENST00000554684.1 - 4 1216 c.720A>T c.(718-720)ctA>ctT p.L240L SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Silent_p.L240L|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Silent_p.L240L Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 240 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) CTGTTTTTGTTAGAAATTCCC 0.338000 20 54 0 0 0.001523 0 0 URB2 9816 broad.mit.edu 37 1 229794961 229794961 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:229794961A>G ENST00000258243.2 + 10 4628 c.4492A>G c.(4492-4494)Aga>Gga p.R1498G NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1498 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GCCGGGAATGAGAGACATCTT 0.507000 43 140 0 0 0.002852 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988898 103988898 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:103988898A>G ENST00000370005.3 + 4 923 c.702A>G c.(700-702)gaA>gaG p.E234E NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 234 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CCACGATGGAACACTTATTCT 0.498000 15 37 0 0 0.002450 0 0 CDH17 1015 broad.mit.edu 37 8 95161033 95161033 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:95161033C>T ENST00000027335.3 - 14 1990 c.1866G>A c.(1864-1866)gtG>gtA p.V622V CDH17_ENST00000450165.2_Silent_p.V622V|CDH17_ENST00000441892.2_Silent_p.V408V NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 622 Cadherin 6. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CCAATGGAGCCACACTAAAGA 0.418000 8 19 0 0 0.003080 0 0 ZNF704 619279 broad.mit.edu 37 8 81599465 81599465 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:81599465C>G ENST00000327835.3 - 4 785 c.554G>C c.(553-555)aGa>aCa p.R185T ZNF704_ENST00000520336.1_5'UTR NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 185 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) ACCAACCTTTCTTTTCCTGGG 0.597000 OREG0018841 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 60 0 0 0.001216 0 0 MFSD9 84804 broad.mit.edu 37 2 103353142 103353142 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:103353142C>G ENST00000258436.5 - 1 171 c.128G>C c.(127-129)cGc>cCc p.R43P NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 43 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CAGGAAGCGGCGGGCTCCGAC 0.672000 14 42 0 0 0.002450 0 0 RYR2 6262 broad.mit.edu 37 1 237947191 237947191 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:237947191A>C ENST00000366574.2 + 90 12496 c.12179A>C c.(12178-12180)cAg>cCg p.Q4060P RYR2_ENST00000360064.6_Missense_Mutation_p.Q4066P|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4044P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4060 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CACTACACGCAGTCAGAAACG 0.483000 12 14 0 0 0.000978 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145969694 145969694 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:145969694T>A ENST00000394413.3 - 9 1718 c.1148A>T c.(1147-1149)aAg>aTg p.K383M PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K372M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K372M|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K449M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K383M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K386M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K441M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K383M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K389M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K383M Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 383 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCCCGGGGCTTGCTGTTTTC 0.507000 38 82 0 0 0.005524 0 0 IL12B 3593 broad.mit.edu 37 5 158753716 158753716 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:158753716T>G ENST00000231228.2 - 2 530 c.75A>C c.(73-75)gaA>gaC p.E25D NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 25 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTCTTCAGTTCCCATATGG 0.502000 33 77 0 0 0.003271 0 0 FBLN7 129804 broad.mit.edu 37 2 112945094 112945094 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:112945094G>A ENST00000409903.1 + 8 1308 c.1078G>A c.(1078-1080)Ggg>Agg p.G360R FBLN7_ENST00000331203.2_3'UTR|FBLN7_ENST00000409450.3_3'UTR|FBLN7_ENST00000409667.3_3'UTR Q53RD9 FBLN7_HUMAN fibulin 7 0 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGGTACACAGGGGCACTGGGG 0.607000 39 111 0 0 0.002522 0 0 OTOP1 133060 broad.mit.edu 37 4 4199579 4199579 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:4199579C>T ENST00000296358.4 - 5 1006 c.982G>A c.(982-984)Gtg>Atg p.V328M NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 328 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACCACCACAGCAATGGTG 0.547000 24 52 0 0 0.002299 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200826433 200826433 + Splice_Site SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:200826433G>C ENST00000358823.2 + 16 4282 c.e16-1 CAMSAP2_ENST00000236925.4_Splice_Site|CAMSAP2_ENST00000413307.2_Splice_Site NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 cytoplasm|microtubule protein binding CCCTACCATAGGACCAAAGCT 0.323000 10 25 0 0 0.000673 0 0 PNRC1 10957 broad.mit.edu 37 6 89790894 89790894 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:89790894C>G ENST00000336032.3 + 1 398 c.281C>G c.(280-282)cCg>cGg p.P94R PNRC1_ENST00000369472.1_Intron NM_006813.2 NP_006804.1 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) CGGGCAGCGCCGAAGAAGCGG 0.721000 Multiple Myeloma(7;0.094) 6 14 0 0 0.001168 0 0 CPNE4 131034 broad.mit.edu 37 3 131624228 131624228 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:131624228G>T ENST00000512055.1 - 6 2186 c.60C>A c.(58-60)agC>agA p.S20R CPNE4_ENST00000429747.1_Missense_Mutation_p.S20R|CPNE4_ENST00000502818.1_Missense_Mutation_p.S38R|CPNE4_ENST00000511604.1_Missense_Mutation_p.S20R|CPNE4_ENST00000512332.1_Missense_Mutation_p.S38R Q96A23 CPNE4_HUMAN copine IV 20 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TCAGGCAGGGGCTGTTAAAGA 0.458000 18 57 1.67942e-08 3.13543e-08 0.006122 1 0 SLCO4C1 353189 broad.mit.edu 37 5 101606491 101606491 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:101606491C>T ENST00000310954.6 - 3 925 c.639G>A c.(637-639)agG>agA p.R213R NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 213 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGGTGCTATTCCTTGTTGTTA 0.333000 9 35 0 0 0.004482 0 0 TRAT1 50852 broad.mit.edu 37 3 108549617 108549617 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:108549617G>T ENST00000295756.6 + 2 338 c.108G>T c.(106-108)aaG>aaT p.K36N TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 36 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ATGTGGAAAAGCAACGACAAG 0.418000 36 178 6.02846e-25 1.48821e-24 0.003271 1 0 TRIML2 205860 broad.mit.edu 37 4 189018271 189018271 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:189018271G>T ENST00000512729.1 - 6 913 c.539C>A c.(538-540)aCa>aAa p.T180K TRIML2_ENST00000326754.3_Missense_Mutation_p.T205K NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 180 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ACTCAGGTCTGTGATATGAGC 0.498000 31 95 4.74835e-14 1.0021e-13 0.002096 1 0 ATP8A2 51761 broad.mit.edu 37 13 26343303 26343303 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:26343303G>T ENST00000381655.2 + 26 2646 c.2504G>T c.(2503-2505)gGt>gTt p.G835V ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.G795V NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 795 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GCCCACGTGGGTGTGGGAATC 0.592000 20 52 3.5997e-14 7.62893e-14 0.002299 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604444 140604444 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140604444A>G ENST00000239449.4 + 1 1367 c.1367A>G c.(1366-1368)tAc>tGc p.Y456C PCDHB14_ENST00000515856.2_Missense_Mutation_p.Y303C NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 456 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAACCTCCTACACCCTGTTC 0.592000 58 184 0 0 0.003610 0 0 KCTD8 386617 broad.mit.edu 37 4 44450416 44450416 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:44450416A>T ENST00000360029.3 - 1 408 c.125T>A c.(124-126)tTc>tAc p.F42Y NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 42 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TACTTCAGGGAAGGGCGAGGG 0.667000 HNSCC(17;0.042) 5 24 0 0 0.000602 0 0 GDF10 2662 broad.mit.edu 37 10 48438504 48438504 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:48438504G>A ENST00000224605.2 - 1 472 c.207C>T c.(205-207)ccC>ccT p.P69P NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 69 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CCTGGGCGCTGGGGCCCAACG 0.741000 8 14 0 0 0.004482 0 0 LRRC66 339977 broad.mit.edu 37 4 52860966 52860966 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:52860966C>A ENST00000343457.3 - 4 2228 c.2222G>T c.(2221-2223)gGg>gTg p.G741V NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 741 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CTTGCTTGCCCCTGAGCTCTC 0.493000 37 96 9.62906e-15 2.07133e-14 0.001287 1 0 CHEK2 11200 broad.mit.edu 37 22 29083962 29083962 + Missense_Mutation SNP G G C rs138839489 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:29083962G>C ENST00000544772.1 - 16 2328 c.892C>G c.(892-894)Cga>Gga p.R298G CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.R490G|CHEK2_ENST00000382565.1_Missense_Mutation_p.R139G|CHEK2_ENST00000404276.1_Missense_Mutation_p.R519G|CHEK2_ENST00000405598.1_Missense_Mutation_p.R519G|CHEK2_ENST00000403642.1_Missense_Mutation_p.R428G|CHEK2_ENST00000348295.3_Missense_Mutation_p.R490G|CHEK2_ENST00000382580.2_Missense_Mutation_p.R562G|CHEK2_ENST00000328354.6_Missense_Mutation_p.R519G|CHEK2_ENST00000382578.1_Missense_Mutation_p.R428G NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 519 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.R519G(1) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 GGCCGCTTTCGACTAGTAGAA 0.463000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 31 0 0 0.004672 0 0 OR2M3 127062 broad.mit.edu 37 1 248366631 248366631 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248366631G>T ENST00000456743.1 + 1 300 c.262G>T c.(262-264)Ggc>Tgc p.G88C NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTACCTGTCTGGCAGCAAGTC 0.502000 135 417 1.41203e-78 3.67567e-78 0.003610 1 0 OR8K3 219473 broad.mit.edu 37 11 56085963 56085963 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56085963T>C ENST00000312711.1 + 1 181 c.181T>C c.(181-183)Ttt>Ctt p.F61L NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) CCCTATGTACTTTTTTCTCAG 0.383000 9 180 0 0 0.000443 0 0 USP42 84132 broad.mit.edu 37 7 6189425 6189425 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:6189425G>T ENST00000306177.5 + 13 1756 c.1598G>T c.(1597-1599)cGc>cTc p.R533L NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 533 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R661L(1)|p.R533L(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TTGCCTGTTCGCCAGTGTCAG 0.428000 21 49 8.34094e-07 1.48407e-06 0.001216 1 0 ZNF716 441234 broad.mit.edu 37 7 57529257 57529257 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:57529257T>C ENST00000420713.1 + 4 1202 c.1090T>C c.(1090-1092)Tcc>Ccc p.S364P NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 CTTTACCTTCTCCTCAACTCT 0.403000 8 22 0 0 0.003080 0 0 TAF5L 27097 broad.mit.edu 37 1 229730582 229730582 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:229730582C>A ENST00000258281.2 - 5 1397 c.1232G>T c.(1231-1233)tGg>tTg p.W411L TAF5L_ENST00000366676.1_Missense_Mutation_p.W411L NM_014409.3 NP_055224.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 411 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) ATCAAATGACCACAGCCTGGC 0.547000 21 92 7.41877e-09 1.39415e-08 0.001882 1 0 CYP2C19 1557 broad.mit.edu 37 10 96535277 96535277 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:96535277G>C ENST00000371321.3 + 3 544 c.462G>C c.(460-462)gaG>gaC p.E154D CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 154 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GCCTTGTGGAGGAGTTGAGAA 0.517000 39 121 0 0 0.003610 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855120 79855120 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:79855120G>T ENST00000338682.3 - 5 1391 c.719C>A c.(718-720)cCc>cAc p.P240H NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 240 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) GGGGAGCTTGGGCCCCTTAGG 0.527000 16 48 1.3612e-06 2.40699e-06 0.003163 1 0 NR1H4 9971 broad.mit.edu 37 12 100928694 100928694 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:100928694T>C ENST00000548884.1 + 6 1154 c.613T>C c.(613-615)Tct>Cct p.S205P NR1H4_ENST00000551379.1_Missense_Mutation_p.S219P|NR1H4_ENST00000392986.3_Missense_Mutation_p.S209P|NR1H4_ENST00000549996.1_Missense_Mutation_p.S158P|NR1H4_ENST00000188403.7_Missense_Mutation_p.S215P NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 219 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TCAGTGTAAATCTAAGCGACT 0.413000 16 21 0 0 0.004007 0 0 C10orf99 387695 broad.mit.edu 37 10 85944465 85944465 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:85944465C>A ENST00000372126.3 + 3 303 c.189C>A c.(187-189)tgC>tgA p.C63* C10orf99_ENST00000472542.1_Intron NM_207373.2 NP_997256.1 Q6UWK7 CJ099_HUMAN chromosome 10 open reading frame 99 63 extracellular region endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 GTAAACCATGCAAGCTTGAGC 0.577000 24 58 1.77063e-15 3.87531e-15 0.005443 1 0 KDM4C 23081 broad.mit.edu 37 9 6984211 6984211 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:6984211G>T ENST00000381309.3 + 10 1726 c.1161G>T c.(1159-1161)gaG>gaT p.E387D KDM4C_ENST00000428870.2_Missense_Mutation_p.E74D|KDM4C_ENST00000543771.1_Missense_Mutation_p.E387D|KDM4C_ENST00000535193.1_Missense_Mutation_p.E409D|KDM4C_ENST00000442236.2_Missense_Mutation_p.E206D|KDM4C_ENST00000536108.1_Missense_Mutation_p.E206D|KDM4C_ENST00000381306.3_Missense_Mutation_p.E387D NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 387 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 AGGCTGATGAGGAAGAGGAAG 0.498000 21 51 2.37509e-13 4.91931e-13 0.001523 1 0 RELN 5649 broad.mit.edu 37 7 103292197 103292197 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:103292197C>G ENST00000424685.2 - 15 1962 c.1803G>C c.(1801-1803)tgG>tgC p.W601C RELN_ENST00000428762.1_Missense_Mutation_p.W601C|RELN_ENST00000343529.5_Missense_Mutation_p.W601C P78509 RELN_HUMAN reelin 601 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAGGAGGGACCAGGAGCGCC 0.478000 14 32 0 0 0.001855 0 0 APPL2 55198 broad.mit.edu 37 12 105600962 105600962 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:105600962C>G ENST00000258530.3 - 8 723 c.498G>C c.(496-498)gaG>gaC p.E166D APPL2_ENST00000551662.1_Missense_Mutation_p.E172D|APPL2_ENST00000539978.2_Missense_Mutation_p.E123D|APPL2_ENST00000549573.1_5'UTR NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 166 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CCGCGGCCACCTCTTTTCCGA 0.512000 14 35 0 0 0.002450 0 0 PCNX 22990 broad.mit.edu 37 14 71555910 71555910 + Splice_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:71555910A>T ENST00000304743.2 + 30 5886 c.5438_splice c.e30-1 p.N1814_splice PCNX_ENST00000238570.5_Splice_Site_p.N1742_splice|PCNX_ENST00000439984.3_Splice_Site_p.N1703_splice NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1814 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCTTAACAGTAATTTAGAGTC 0.383000 14 53 0 0 0.002450 0 0 SYNE1 23345 broad.mit.edu 37 6 152831418 152831418 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:152831418G>A ENST00000367255.5 - 8 1092 c.491C>T c.(490-492)cCc>cTc p.P164L SYNE1_ENST00000448038.1_Missense_Mutation_p.P171L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P164L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P164L|SYNE1_ENST00000367253.4_Missense_Mutation_p.P164L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P171L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P171L|SYNE1_ENST00000413186.2_Missense_Mutation_p.P164L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P164L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 164 Actin-binding. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGTGGGCTGGGAGTCTCAGA 0.493000 HNSCC(10;0.0054) 25 66 0 0 0.004656 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237321 140237321 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140237321C>G ENST00000307360.5 + 1 1688 c.1688C>G c.(1687-1689)gCg>gGg p.A563G PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGCTCCCGCGCTGCTGGCG 0.687000 25 20 0 0 0.003954 0 0 GALNTL6 442117 broad.mit.edu 37 4 173873316 173873316 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:173873316G>T ENST00000506823.1 + 10 1935 c.1278G>T c.(1276-1278)aaG>aaT p.K426N GALNTL6_ENST00000508122.1_Missense_Mutation_p.K409N NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 426 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 AGCAGCTCAAGTGCAAGGACT 0.597000 15 37 2.31682e-05 3.9439e-05 0.003163 1 0 PTPDC1 138639 broad.mit.edu 37 9 96859788 96859788 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:96859788G>T ENST00000375360.3 + 7 1118 c.778G>T c.(778-780)Gct>Tct p.A260S PTPDC1_ENST00000288976.3_Missense_Mutation_p.A312S NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 260 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 CAAAGCACATGCTGTCACCTT 0.438000 129 76 1.6185e-62 4.1968e-62 0.003610 1 0 GYPA 2993 broad.mit.edu 37 4 145035886 145035886 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:145035886G>T ENST00000360771.4 - 6 507 c.392C>A c.(391-393)cCt>cAt p.P131H GYPA_ENST00000324022.10_Missense_Mutation_p.P98H|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Missense_Mutation_p.P118H|GYPA_ENST00000504786.1_Missense_Mutation_p.P99H|GYPA_ENST00000503627.1_Missense_Mutation_p.P86H|GYPA_ENST00000512789.1_Missense_Mutation_p.P66H|GYPA_ENST00000535709.1_Missense_Mutation_p.P105H|GYPB_ENST00000283126.7_Intron NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 131 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) GTCTGTGTCAGGTGAGGGGAG 0.328000 13 31 7.93312e-07 1.41401e-06 0.002450 1 0 GCC1 79571 broad.mit.edu 37 7 127223058 127223058 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:127223058C>T ENST00000321407.2 - 2 1762 c.1338G>A c.(1336-1338)gcG>gcA p.A446A GCC1_ENST00000497650.1_5'UTR NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 446 Golgi membrane|plasma membrane protein binding p.A446A(1) breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTTTCCTGGCCGCAACCTGCA 0.557000 45 132 0 0 0.003214 0 0 CCR8 1237 broad.mit.edu 37 3 39374449 39374449 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:39374449C>T ENST00000326306.4 + 2 765 c.627C>T c.(625-627)atC>atT p.I209I CCR8_ENST00000545843.1_Silent_p.I126I|CCR8_ENST00000414803.1_3'UTR NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 209 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) GCTTGTTGATCCCATTCACCA 0.398000 25 34 0 0 0.003330 0 0 ARAP2 116984 broad.mit.edu 37 4 36230489 36230489 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:36230489C>G ENST00000303965.4 - 2 1109 c.620G>C c.(619-621)aGt>aCt p.S207T NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 207 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 AGGGAGCTTACTGAGATTTTC 0.338000 25 84 0 0 0.005443 0 0 OR2A5 393046 broad.mit.edu 37 7 143747689 143747689 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:143747689G>T ENST00000408906.2 + 1 229 c.195G>T c.(193-195)ctG>ctT p.L65L NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCTCACACCTGGCCATCATTG 0.488000 18 77 3.52763e-06 6.16184e-06 0.004990 1 0 OR13G1 441933 broad.mit.edu 37 1 247835616 247835616 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247835616G>T ENST00000359688.2 - 1 749 c.728C>A c.(727-729)aCa>aAa p.T243K RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGTCACCACTGTGAGATGAGA 0.448000 44 42 1.41504e-22 3.44239e-22 0.002852 1 0 C9 735 broad.mit.edu 37 5 39342218 39342218 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:39342218T>A ENST00000263408.4 - 2 253 c.158A>T c.(157-159)cAa>cTa p.Q53L C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 53 TSP type-1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) AGGATCGCATTGTGACCATTC 0.463000 15 66 0 0 0.003163 0 0 RANBP3L 202151 broad.mit.edu 37 5 36260950 36260950 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:36260950C>T ENST00000296604.3 - 8 1086 c.601G>A c.(601-603)Gat>Aat p.D201N RANBP3L_ENST00000502994.1_Missense_Mutation_p.D226N|RANBP3L_ENST00000515759.1_Missense_Mutation_p.D201N NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 201 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) GAACATTTATCTTCATTTGGT 0.249000 3 10 0 0 0.000248 0 0 RIMKLB 57494 broad.mit.edu 37 12 8866600 8866600 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:8866600G>T ENST00000357529.3 + 3 1400 c.138G>T c.(136-138)atG>atT p.M46I RIMKLB_ENST00000538135.1_Missense_Mutation_p.M46I|RIMKLB_ENST00000535829.1_Missense_Mutation_p.M46I|RIMKLB_ENST00000299673.5_3'UTR NM_020734.2 NP_065785.2 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B 46 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CTGTGGTGATGGATGAGGTGG 0.428000 17 26 5.01169e-05 8.4525e-05 0.004990 1 0 PCDHB16 57717 broad.mit.edu 37 5 140562178 140562178 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140562178T>C ENST00000361016.2 + 1 1199 c.44T>C c.(43-45)cTt>cCt p.L15P NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 15 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCAAGTCCTTGTTTTCTTT 0.473000 39 101 0 0 0.001287 0 0 DENND2A 27147 broad.mit.edu 37 7 140244499 140244499 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:140244499G>C ENST00000275884.6 - 13 2663 c.2246C>G c.(2245-2247)tCc>tGc p.S749C DENND2A_ENST00000492720.1_Missense_Mutation_p.S749C|DENND2A_ENST00000496613.1_Missense_Mutation_p.S749C|DENND2A_ENST00000537639.1_Missense_Mutation_p.S749C Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 749 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GACGCTGAGGGAGGAGAAGAG 0.602000 8 25 0 0 0.003080 0 0 PLCG2 5336 broad.mit.edu 37 16 81979842 81979842 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:81979842G>C ENST00000359376.3 + 31 3758 c.3544G>C c.(3544-3546)Gtt>Ctt p.V1182L NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 1182 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TTCCCTCCTGGTTTTCTGTGA 0.527000 24 44 0 0 0.003330 0 0 TINAG 27283 broad.mit.edu 37 6 54214631 54214631 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:54214631C>T ENST00000259782.4 + 7 1113 c.1017C>T c.(1015-1017)ccC>ccT p.P339P NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 339 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) AGCCATGTCCCAACAACGTAG 0.443000 96 60 0 0 0.003610 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20075667 20075667 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:20075667G>A ENST00000276390.2 + 13 1310 c.1270G>A c.(1270-1272)Gcg>Acg p.A424T NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 424 AC -> RA (in Ref. 7; AAA35610). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) TCTTTAGTATGCGTGCTATGC 0.438000 36 84 0 0 0.004289 0 0 ACTN2 88 broad.mit.edu 37 1 236912520 236912520 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:236912520G>C ENST00000366578.4 + 14 1778 c.1612G>C c.(1612-1614)Gat>Cat p.D538H ACTN2_ENST00000542672.1_Missense_Mutation_p.D538H|ACTN2_ENST00000546208.1_Missense_Mutation_p.D32H NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 538 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGCTATGGAGGATCTGCAAGA 0.443000 17 65 0 0 0.006122 0 0 CETN1 1068 broad.mit.edu 37 18 580859 580859 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:580859C>T ENST00000327228.3 + 1 493 c.451C>T c.(451-453)Cgg>Tgg p.R151W NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 151 EF-hand 4. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 CGAAGCTGATCGGGATGGGGA 0.547000 46 173 0 0 0.002852 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318738 21318738 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:21318738C>T ENST00000583088.1 + 3 979 c.84C>T c.(82-84)gcC>gcT p.A28A KCNJ12_ENST00000331718.5_Silent_p.A28A NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TGTCGGGCGCCAACGGCTTCG 0.657000 Prostate(3;0.18) 5 43 0 0 0.001168 0 0 SCN3A 6328 broad.mit.edu 37 2 166019263 166019263 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:166019263C>A ENST00000360093.3 - 8 1261 c.770G>T c.(769-771)tGt>tTt p.C257F SCN3A_ENST00000283254.7_Missense_Mutation_p.C257F|SCN3A_ENST00000409101.3_Missense_Mutation_p.C257F NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 257 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CACGCTCAGACAGAACACAGT 0.478000 37 36 1.90571e-15 4.1664e-15 0.004289 1 0 TUBA3C 7278 broad.mit.edu 37 13 19753636 19753636 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:19753636T>A ENST00000400113.3 - 2 175 c.71A>T c.(70-72)tAc>tTc p.Y24F NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 24 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TTCCAGGCAGTACAGTTCCCA 0.512000 50 45 0 0 0.003610 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144853 11144853 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:11144853G>T ENST00000358026.2 + 28 4212 c.3928G>T c.(3928-3930)Gag>Tag p.E1310* SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E1310*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1310*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1277* NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1310 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.E1310*(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGCCCGGCACGAGGAGGAGTT 0.597000 """F, N, Mis""" NSCLC 24 44 2.21704e-12 4.48096e-12 0.002780 1 0 ZFHX4 79776 broad.mit.edu 37 8 77765155 77765155 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:77765155C>A ENST00000521891.2 + 10 6446 c.5998C>A c.(5998-6000)Cca>Aca p.P2000T ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1955T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1974T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1955T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1955 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCATCTTCTCCAGAAACGcc 0.507000 HNSCC(33;0.089) 8 18 0.000157383 0.000261914 0.003080 1 0 ERCC6 2074 broad.mit.edu 37 10 50667067 50667067 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:50667067C>G ENST00000355832.5 - 21 4354 c.4276G>C c.(4276-4278)Gac>Cac p.D1426H ERCC6_ENST00000542458.1_Missense_Mutation_p.D796H|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1426 Ubiquitin-binding domain (UBD). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 ACCAGAAGGTCATCGTGTTCT 0.527000 Direct reversal of damage;Nucleotide excision repair (NER) 25 70 0 0 0.003330 0 0 EEF1DP3 196549 broad.mit.edu 37 13 32527088 32527088 + RNA SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:32527088C>G ENST00000428783.1 + 0 788 GAGCCCCCGGCCAAGAAGCTA 0.607000 12 15 0 0 0.001855 0 0 PXDN 7837 broad.mit.edu 37 2 1658260 1658260 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1658260C>A ENST00000252804.4 - 15 1908 c.1858G>T c.(1858-1860)Gga>Tga p.G620* NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 620 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AACGGATCTCCATTTCGACTG 0.428000 15 32 7.93312e-07 1.41401e-06 0.002450 1 0 BHMT2 23743 broad.mit.edu 37 5 78378765 78378765 + Missense_Mutation SNP G G A rs147230129 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:78378765G>A ENST00000255192.3 + 5 650 c.584G>A c.(583-585)aGg>aAg p.R195K BHMT2_ENST00000521567.1_Missense_Mutation_p.R131K|DMGDH_ENST00000520388.1_Intron NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 195 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) TGTGCTGTGAGGCTGGTGAAG 0.463000 50 114 0 0 0.003610 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033445 95033445 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95033445G>A ENST00000557004.1 + 3 1209 c.788G>A c.(787-789)tGc>tAc p.C263Y SERPINA4_ENST00000555095.1_Missense_Mutation_p.C263Y|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.C263Y P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 263 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) TACTTGCCCTGCTCGGTGCTA 0.493000 15 44 0 0 0.004990 0 0 USP29 57663 broad.mit.edu 37 19 57641686 57641686 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:57641686C>T ENST00000254181.4 + 4 2097 c.1643C>T c.(1642-1644)cCt>cTt p.P548L USP29_ENST00000598197.1_Missense_Mutation_p.P548L NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 548 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACCAAACCACCTCTTCCCTTG 0.418000 52 143 0 0 0.003610 0 0 EWSR1 2130 broad.mit.edu 37 22 29684679 29684679 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:29684679G>C ENST00000397938.2 + 8 1197 c.878G>C c.(877-879)aGc>aCc p.S293T EWSR1_ENST00000331029.7_Missense_Mutation_p.S293T|EWSR1_ENST00000333395.6_Missense_Mutation_p.S293T|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.S293T|EWSR1_ENST00000414183.2_Missense_Mutation_p.S299T|EWSR1_ENST00000332035.6_Missense_Mutation_p.S237T NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAGAACCGGAGCATGAGTGGC 0.592000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 18 25 0 0 0.004990 0 0 XIRP2 129446 broad.mit.edu 37 2 168105477 168105477 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:168105477A>T ENST00000409195.1 + 9 7664 c.7575A>T c.(7573-7575)ccA>ccT p.P2525P XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.P2525P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2303P|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2350 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATTCATTTCCAGAGAGTTCAG 0.348000 32 51 0 0 0.002836 0 0 POU4F3 5459 broad.mit.edu 37 5 145719828 145719828 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:145719828T>A ENST00000230732.4 + 2 927 c.838T>A c.(838-840)Tcc>Acc p.S280T CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 280 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAACGCACGTCCATCGCGGC 0.612000 21 45 0 0 0.001216 0 0 RGS8 85397 broad.mit.edu 37 1 182640845 182640845 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:182640845G>A ENST00000258302.4 - 2 116 c.27C>T c.(25-27)ctC>ctT p.L9L RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_5'UTR|RGS8_ENST00000367556.1_5'UTR|RGS8_ENST00000483095.2_5'UTR NM_033345.2 NP_203131.1 P57771 RGS8_HUMAN regulator of G-protein signaling 8 0 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 GATGGTCAGAGAGGCTTCGGG 0.498000 23 73 0 0 0.001882 0 0 MUC17 140453 broad.mit.edu 37 7 100676773 100676773 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:100676773T>C ENST00000306151.4 + 3 2140 c.2076T>C c.(2074-2076)agT>agC p.S692S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 692 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) CATTAACAAGTATGCCTGTCA 0.493000 213 468 0 0 0.003610 0 0 LLGL2 3993 broad.mit.edu 37 17 73569302 73569302 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:73569302A>G ENST00000392550.3 + 20 2785 c.2668A>G c.(2668-2670)Atc>Gtc p.I890V LLGL2_ENST00000577200.1_Missense_Mutation_p.I890V|LLGL2_ENST00000167462.5_Missense_Mutation_p.I890V NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 890 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CTACAGCTGCATCCGCCGGGA 0.662000 28 59 0 0 0.001512 0 0 MYH2 4620 broad.mit.edu 37 17 10433044 10433044 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10433044G>T ENST00000245503.5 - 24 3338 c.2954C>A c.(2953-2955)aCa>aAa p.T985K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.T985K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 985 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CATCTCTTCTGTGAGGTTTTT 0.478000 73 152 4.81439e-37 1.22932e-36 0.003610 1 0 SFRP4 6424 broad.mit.edu 37 7 37951858 37951858 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:37951858C>G ENST00000436072.2 - 4 1031 c.654G>C c.(652-654)gtG>gtC p.V218V EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 218 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CTTTTACATCCACCACCGTTG 0.433000 18 46 0 0 0.006122 0 0 OR11G2 390439 broad.mit.edu 37 14 20666322 20666322 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20666322C>T ENST00000357366.3 + 1 828 c.828C>T c.(826-828)ttC>ttT p.F276F NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) GAAAGGCTTTCTCCACCTGTG 0.517000 57 145 0 0 0.003610 0 0 NPEPL1 79716 broad.mit.edu 37 20 57268861 57268861 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:57268861C>T ENST00000356091.6 + 2 507 c.219C>T c.(217-219)taC>taT p.Y73Y NPEPL1_ENST00000525967.1_Silent_p.Y45Y|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.Y25Y NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 73 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) ACCTGAACTACGCCACCGTGG 0.672000 29 34 0 0 0.002445 0 0 GRHL2 79977 broad.mit.edu 37 8 102656368 102656368 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:102656368C>G ENST00000251808.3 + 13 1865 c.1527C>G c.(1525-1527)gtC>gtG p.V509V GRHL2_ENST00000395927.1_Silent_p.V493V|GRHL2_ENST00000517674.1_3'UTR NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 509 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) GTGGCAGTGTCCTTGTTAAAC 0.463000 8 25 0 0 0.004482 0 0 KCNK18 338567 broad.mit.edu 37 10 118957144 118957144 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:118957144G>T ENST00000334549.1 + 1 145 c.145G>T c.(145-147)Gtc>Ttc p.V49F NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 49 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) GGACGGCCAGGTCCTGGTGGC 0.572000 16 49 3.45872e-05 5.87777e-05 0.004007 1 0 RIMS2 9699 broad.mit.edu 37 8 105027684 105027684 + Splice_Site SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:105027684G>A ENST00000436393.2 + 18 2828 c.2587_splice c.e18+1 p.E863_splice RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 323 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACCTTATGAAGGTCTGTACAT 0.363000 HNSCC(12;0.0054) 4 5 0 0 0.000248 0 0 SULF1 23213 broad.mit.edu 37 8 70476335 70476335 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:70476335G>C ENST00000260128.4 + 5 842 c.125G>C c.(124-126)cGa>cCa p.R42P SULF1_ENST00000458141.2_Missense_Mutation_p.R42P|SULF1_ENST00000419716.3_Missense_Mutation_p.R42P|SULF1_ENST00000402687.4_Missense_Mutation_p.R42P NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 42 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AAAAACATCCGACCCAACATT 0.483000 28 70 0 0 0.004656 0 0 CMYA5 202333 broad.mit.edu 37 5 79034639 79034639 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:79034639C>A ENST00000446378.2 + 2 10082 c.10051C>A c.(10051-10053)Cgt>Agt p.R3351S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3351 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGTTCTGGAGCGTGCAGATGA 0.488000 21 46 4.35082e-09 8.22231e-09 0.001523 1 0 LEPR 3953 broad.mit.edu 37 1 66036415 66036415 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:66036415C>A ENST00000349533.6 + 4 485 c.300C>A c.(298-300)tcC>tcA p.S100S LEPR_ENST00000371059.3_Silent_p.S100S|LEPR_ENST00000371060.3_Silent_p.S100S|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000344610.8_Silent_p.S100S|LEPR_ENST00000371058.1_Silent_p.S100S|LEPR_ENST00000462765.1_3'UTR NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 100 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GAAACTGCTCCTTATGTGCAG 0.333000 36 23 1.96642e-18 4.5104e-18 0.001485 1 0 BRINP3 339479 broad.mit.edu 37 1 190067933 190067933 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:190067933T>A ENST00000367462.3 - 8 1747 c.1516A>T c.(1516-1518)Aga>Tga p.R506* FAM5C_ENST00000534846.1_Nonsense_Mutation_p.R404*|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 506 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TCTATTCGTCTGTCCGTTTTC 0.488000 53 127 0 0 0.003610 0 0 ALOX12B 242 broad.mit.edu 37 17 7977057 7977057 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:7977057C>G ENST00000319144.4 - 13 1933 c.1673G>C c.(1672-1674)cGa>cCa p.R558P ALOX12B_ENST00000577351.1_Intron NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 558 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 AGGCACGGTTCGCAAGCACCT 0.627000 Multiple Myeloma(8;0.094) OREG0024152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 29 0 0 0.004482 0 0 NECAB1 64168 broad.mit.edu 37 8 91929810 91929810 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:91929810C>A ENST00000417640.2 + 6 785 c.448C>A c.(448-450)Ctg>Atg p.L150M NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 150 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) CCAGAATTCCCTGGAATGTGC 0.403000 19 33 0.00152264 0.00249261 0.001523 1 0 FGD5 152273 broad.mit.edu 37 3 14939485 14939485 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:14939485G>A ENST00000285046.5 + 6 3059 c.2949G>A c.(2947-2949)cgG>cgA p.R983R FGD5_ENST00000543601.1_Silent_p.R742R|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 983 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCCTGGCCCGGGAGCAGGGGT 0.592000 24 38 0 0 0.003954 0 0 SLC6A5 9152 broad.mit.edu 37 11 20623176 20623176 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:20623176G>T ENST00000525748.1 + 2 778 c.505G>T c.(505-507)Gtg>Ttg p.V169L NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 169 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.V169M(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AATCACGTCCGTGCTCCCGGG 0.652000 12 31 6.40141e-05 0.000107782 0.000978 1 0 CEACAM18 729767 broad.mit.edu 37 19 51984682 51984682 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:51984682A>G ENST00000396477.4 + 3 457 c.436A>G c.(436-438)Agc>Ggc p.S146G CEACAM18_ENST00000451626.1_Missense_Mutation_p.S207G NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 207 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CGTCAATGCCAGCTCCCTGGT 0.502000 13 35 0 0 0.001855 0 0 PTCRA 171558 broad.mit.edu 37 6 42890971 42890971 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:42890971T>G ENST00000304672.1 + 2 346 c.265T>G c.(265-267)Ttg>Gtg p.L89V PTCRA_ENST00000441198.1_Missense_Mutation_p.L64V|PTCRA_ENST00000446507.1_Intron NM_001243168.1|NM_138296.2 NP_001230097.1|NP_612153.2 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha 89 integral to membrane receptor activity large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTGGACCAACTTGGCCCATCT 0.622000 29 156 0 0 0.005443 0 0 GLYATL1 92292 broad.mit.edu 37 11 58714591 58714591 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:58714591C>A ENST00000317391.4 + 4 371 c.31C>A c.(31-33)Ctg>Atg p.L11M RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Intron NM_001220494.1 NP_001207423.1 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 11 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CCATAAGCTGCTGGCCCTATA 0.478000 14 28 1.5842e-08 2.96042e-08 0.001855 1 0 MYH15 22989 broad.mit.edu 37 3 108211406 108211406 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:108211406G>A ENST00000273353.3 - 10 928 c.872C>T c.(871-873)gCt>gTt p.A291V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 291 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCTCTCTCCAGCCTGCTGGAA 0.368000 14 44 0 0 0.004007 0 0 C1QB 713 broad.mit.edu 37 1 22987522 22987522 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:22987522C>A ENST00000509305.1 + 3 745 c.399C>A c.(397-399)cgC>cgA p.R133R C1QB_ENST00000314933.6_Silent_p.R135R P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 135 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCCCCCTGCGCCGGGACCAGA 0.592000 63 50 5.10652e-33 1.29241e-32 0.003610 1 0 UROC1 131669 broad.mit.edu 37 3 126218903 126218903 + Missense_Mutation SNP C C A rs142723755 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:126218903C>A ENST00000290868.2 - 12 1293 c.1240G>T c.(1240-1242)Gca>Tca p.A414S UROC1_ENST00000383579.3_Missense_Mutation_p.A474S NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 414 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) ctcctACCTGCTCTCTGGGCC 0.632000 15 64 2.23348e-06 3.92179e-06 0.004007 1 0 EEFSEC 60678 broad.mit.edu 37 3 128060074 128060074 + Splice_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:128060074A>T ENST00000254730.6 + 5 840 c.e5-1 EEFSEC_ENST00000483569.1_Splice_Site|EEFSEC_ENST00000483457.1_Splice_Site NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 ACTCCCCATCAGGTGGTGAAG 0.562000 26 100 0 0 0.001786 0 0 OR2M5 127059 broad.mit.edu 37 1 248309365 248309365 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248309365G>T ENST00000366476.1 + 1 916 c.916G>T c.(916-918)Gga>Tga p.G306* NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GAAAGTGTTAGGAAAGGGCAA 0.443000 38 52 1.57351e-24 3.8749e-24 0.003755 1 0 OR4K13 390433 broad.mit.edu 37 14 20502160 20502160 + Missense_Mutation SNP G G T rs150686832 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20502160G>T ENST00000315693.2 - 1 759 c.758C>A c.(757-759)cCg>cAg p.P253Q NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAAGACACACGGAGCAAAGAA 0.413000 22 46 2.89027e-11 5.74333e-11 0.002299 1 0 MYH4 4622 broad.mit.edu 37 17 10354160 10354160 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10354160G>T ENST00000255381.2 - 29 4028 c.3918C>A c.(3916-3918)tcC>tcA p.S1306S CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1306 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTTTGCCTCGGGATAGCTGAG 0.393000 31 57 1.55811e-20 3.71393e-20 0.001512 1 0 PXDNL 137902 broad.mit.edu 37 8 52384809 52384809 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:52384809G>T ENST00000356297.4 - 8 850 c.750C>A c.(748-750)acC>acA p.T250T PXDNL_ENST00000543296.1_Silent_p.T250T NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 250 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGAAGTAGACGGTATTTCCTG 0.428000 35 93 1.67305e-13 3.4832e-13 0.001287 1 0 DDI1 414301 broad.mit.edu 37 11 103908508 103908508 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:103908508A>G ENST00000302259.3 + 1 1201 c.958A>G c.(958-960)Ata>Gta p.I320V PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 320 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CTCTTTCTCCATACTTGAGGA 0.453000 32 60 0 0 0.002836 0 0 FTMT 94033 broad.mit.edu 37 5 121187730 121187730 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:121187730C>T ENST00000321339.1 + 1 81 c.72C>T c.(70-72)tgC>tgT p.C24C NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 24 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CGGTGCGCTGCTGCTTCGCGC 0.731000 4 34 0 0 0.000248 0 0 TNIK 23043 broad.mit.edu 37 3 170781743 170781743 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:170781743G>T ENST00000436636.2 - 33 4354 c.4010C>A c.(4009-4011)gCa>gAa p.A1337E TNIK_ENST00000357327.5_Missense_Mutation_p.A1308E|TNIK_ENST00000341852.6_Missense_Mutation_p.A1253E|TNIK_ENST00000284483.8_Missense_Mutation_p.A1329E|TNIK_ENST00000464785.1_5'UTR|TNIK_ENST00000538048.1_Missense_Mutation_p.A1289E|TNIK_ENST00000369326.5_Missense_Mutation_p.A1315E|TNIK_ENST00000460047.1_Missense_Mutation_p.A1274E|TNIK_ENST00000488470.1_Missense_Mutation_p.A1282E|TNIK_ENST00000470834.1_Missense_Mutation_p.A1300E|TNIK_ENST00000475336.1_Missense_Mutation_p.A1245E NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1337 actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCGCACGGATGCAAAAAATAC 0.403000 52 40 6.81593e-30 1.70995e-29 0.003610 1 0 OR4M1 441670 broad.mit.edu 37 14 20248502 20248502 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20248502C>A ENST00000315957.4 + 1 102 c.21C>A c.(19-21)acC>acA p.T7T NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAAATTACACCAAGGTGACAG 0.338000 26 178 7.16444e-05 0.000120528 0.003954 1 0 PCDH15 65217 broad.mit.edu 37 10 55569197 55569197 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:55569197G>T ENST00000395445.1 - 36 5007 c.4613C>A c.(4612-4614)aCa>aAa p.T1538K PCDH15_ENST00000395440.1_Missense_Mutation_p.T472K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.T403K|PCDH15_ENST00000395446.1_Missense_Mutation_p.T734K NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTTCCATGTTGTGTATGTAGG 0.398000 HNSCC(58;0.16) 52 151 1.35964e-18 3.14377e-18 0.003610 1 0 CENPQ 55166 broad.mit.edu 37 6 49456174 49456174 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:49456174G>T ENST00000335783.3 + 7 681 c.587G>T c.(586-588)aGa>aTa p.R196I NM_018132.3 NP_060602.2 Q7L2Z9 CENPQ_HUMAN centromere protein Q 196 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1) 11 Lung NSC(77;0.0128) GAAGAGGAGAGAGTAAAACAG 0.313000 36 35 3.93418e-24 9.67635e-24 0.004289 1 0 HTR3E 285242 broad.mit.edu 37 3 183823166 183823166 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:183823166C>A ENST00000415389.2 + 6 1137 c.671C>A c.(670-672)aCc>aAc p.T224N HTR3E_ENST00000436361.2_Missense_Mutation_p.T224N|HTR3E_ENST00000425359.2_Missense_Mutation_p.T209N|HTR3E_ENST00000335304.2_Missense_Mutation_p.T239N|HTR3E_ENST00000440596.2_Missense_Mutation_p.T250N NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 224 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGCAAGGCCACCGCAAAGTTG 0.527000 17 70 1.15088e-07 2.09412e-07 0.004007 1 0 FOXB2 442425 broad.mit.edu 37 9 79635323 79635323 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:79635323G>T ENST00000376708.1 + 1 753 c.753G>T c.(751-753)tcG>tcT p.S251S NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 251 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 GGCTGGGCTCGgccgccgccg 0.746000 7 17 2.7689e-08 5.15508e-08 0.001984 1 0 GSC 145258 broad.mit.edu 37 14 95234860 95234860 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95234860C>A ENST00000238558.3 - 3 951 c.742G>T c.(742-744)Gaa>Taa p.E248* NM_173849.2 NP_776248.1 P56915 GSC_HUMAN goosecoid homeobox 248 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) CTTTTACCTTCCTCTTCCCTC 0.562000 40 104 8.16277e-20 1.9161e-19 0.001485 1 0 TARS 6897 broad.mit.edu 37 5 33457373 33457373 + Silent SNP G G A rs113811412 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:33457373G>A ENST00000265112.3 + 9 1160 c.849G>A c.(847-849)acG>acA p.T283T TARS_ENST00000455217.2_Silent_p.T316T|TARS_ENST00000541634.1_Silent_p.T179T|TARS_ENST00000414361.2_Silent_p.T162T|TARS_ENST00000502553.1_Silent_p.T283T NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 283 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity p.T283T(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) ATTCCTCCACGTACTGGGAAG 0.388000 11 38 0 0 0.001855 0 0 DDR2 4921 broad.mit.edu 37 1 162724444 162724444 + Nonsense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:162724444G>A ENST00000367922.2 + 6 654 c.216G>A c.(214-216)tgG>tgA p.W72* DDR2_ENST00000367921.3_Nonsense_Mutation_p.W72* NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 72 F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ATGGAGCCTGGTGCCCTGAGA 0.557000 38 74 0 0 0.001287 0 0 UNC5D 137970 broad.mit.edu 37 8 35406972 35406972 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:35406972G>T ENST00000287272.2 + 2 286 c.266G>T c.(265-267)gGc>gTc p.G89V UNC5D_ENST00000420357.1_Missense_Mutation_p.G89V|UNC5D_ENST00000416672.1_Missense_Mutation_p.G89V|UNC5D_ENST00000404895.2_Missense_Mutation_p.G89V|UNC5D_ENST00000453357.2_Missense_Mutation_p.G84V Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 89 Ig-like. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAATGCAACGGCGAGTGGGTC 0.507000 17 29 5.01169e-05 8.4525e-05 0.004990 1 0 OR2J3 442186 broad.mit.edu 37 6 29080330 29080330 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:29080330T>A ENST00000377169.1 + 1 663 c.663T>A c.(661-663)taT>taA p.Y221* NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TCACTTCTTATGGTGCCATCG 0.448000 16 137 0 0 0.003163 0 0 DMBT1 1755 broad.mit.edu 37 10 124339216 124339216 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:124339216G>A ENST00000368909.3 + 10 908 c.802G>A c.(802-804)Gcc>Acc p.A268T DMBT1_ENST00000368955.3_Missense_Mutation_p.A268T|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268T|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268T|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268T|DMBT1_ENST00000338354.3_Missense_Mutation_p.A268T NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 268 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CACCAATGATGCCAATGTGGT 0.607000 139 346 0 0 0.003610 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481907 140481907 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140481907G>C ENST00000231130.2 + 1 1674 c.1674G>C c.(1672-1674)tcG>tcC p.S558S NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 558 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGACAACTCGCCCTTCGTGC 0.711000 30 76 0 0 0.003755 0 0 PCNT 5116 broad.mit.edu 37 21 47851899 47851899 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:47851899G>T ENST00000359568.5 + 38 8628 c.8521G>T c.(8521-8523)Gcc>Tcc p.A2841S PCNT_ENST00000480896.1_Intron NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2841 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGAGGTAAGTGCCACACTGAA 0.567000 17 39 1.78486e-19 4.18484e-19 0.000958 1 0 MACF1 23499 broad.mit.edu 37 1 39763349 39763349 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:39763349A>T ENST00000564288.1 + 21 3190 c.2413A>T c.(2413-2415)Aaa>Taa p.K805* MACF1_ENST00000539005.1_Nonsense_Mutation_p.K810*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.K810*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.K842*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.K810*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.K810*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.K810* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 810 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) 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) AGATTCCATTAAACGAAAATA 0.463000 46 26 0 0 0.003214 0 0 COL12A1 1303 broad.mit.edu 37 6 75893061 75893061 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:75893061C>T ENST00000322507.8 - 10 1905 c.1596G>A c.(1594-1596)gtG>gtA p.V532V COL12A1_ENST00000483888.2_Silent_p.V532V|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.V532V NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 532 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCTTGCTAGGCACAAATATTT 0.393000 41 105 0 0 0.002522 0 0 KIAA1432 57589 broad.mit.edu 37 9 5757415 5757415 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:5757415T>C ENST00000414202.2 + 17 2147 c.1956T>C c.(1954-1956)agT>agC p.S652S KIAA1432_ENST00000251879.6_Silent_p.S652S|KIAA1432_ENST00000418622.3_Silent_p.S573S|KIAA1432_ENST00000381532.2_Silent_p.S573S|KIAA1432_ENST00000449720.2_Silent_p.S536S NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 652 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CATCAGTGAGTACAGAGAATG 0.413000 36 102 0 0 0.004878 0 0 PTCD3 55037 broad.mit.edu 37 2 86350830 86350830 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:86350830G>T ENST00000254630.7 + 9 727 c.661G>T c.(661-663)Gaa>Taa p.E221* PTCD3_ENST00000409277.3_Missense_Mutation_p.R179S NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 221 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 TCAGGAAGAGGAAAATGATGA 0.383000 14 36 3.27435e-08 6.06798e-08 0.002450 1 0 NEMF 9147 broad.mit.edu 37 14 50312932 50312932 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:50312932C>A ENST00000298310.5 - 4 732 c.283G>T c.(283-285)Gtg>Ttg p.V95L NEMF_ENST00000545773.1_Intron|NEMF_ENST00000546046.1_Missense_Mutation_p.V95L|NEMF_ENST00000556672.1_Missense_Mutation_p.V95L O60524 NEMF_HUMAN nuclear export mediator factor 95 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 ATTCTATCCACACCAAGCTGT 0.358000 13 32 2.32078e-09 4.44448e-09 0.003163 1 0 TGFBR2 7048 broad.mit.edu 37 3 30691784 30691784 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:30691784A>G ENST00000295754.5 + 3 668 c.286A>G c.(286-288)Aca>Gca p.T96A TGFBR2_ENST00000359013.4_Missense_Mutation_p.T121A NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 96 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CGAGAACATAACACTAGAGAC 0.428000 27 34 0 0 0.001061 0 0 PTPRR 5801 broad.mit.edu 37 12 71078504 71078504 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:71078504T>C ENST00000283228.2 - 9 1791 c.1339A>G c.(1339-1341)Att>Gtt p.I447V PTPRR_ENST00000342084.4_Missense_Mutation_p.I335V|PTPRR_ENST00000549308.1_Missense_Mutation_p.I202V|PTPRR_ENST00000440835.2_Missense_Mutation_p.I202V|PTPRR_ENST00000378778.1_Missense_Mutation_p.I241V NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 447 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTAGCATTAATGTAGGTGCTC 0.299000 24 59 0 0 0.004656 0 0 ATP2C1 27032 broad.mit.edu 37 3 130683850 130683850 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:130683850T>A ENST00000510168.1 + 14 1633 c.1083T>A c.(1081-1083)acT>acA p.T361T ATP2C1_ENST00000505330.1_Silent_p.T345T|ATP2C1_ENST00000513801.1_Silent_p.T345T|ATP2C1_ENST00000533801.2_Silent_p.T356T|ATP2C1_ENST00000359644.3_Silent_p.T361T|ATP2C1_ENST00000393221.4_Silent_p.T395T|ATP2C1_ENST00000422190.2_Silent_p.T361T|ATP2C1_ENST00000508532.1_Silent_p.T361T|ATP2C1_ENST00000428331.2_Silent_p.T361T|ATP2C1_ENST00000507488.2_Silent_p.T345T|ATP2C1_ENST00000328560.8_Silent_p.T361T|ATP2C1_ENST00000504948.1_Silent_p.T345T|ATP2C1_ENST00000504381.1_Silent_p.T306T P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 361 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) ATGAAATGACTGTTACTCACA 0.333000 Hailey-Hailey disease 55 43 0 0 0.003610 0 0 HELZ 9931 broad.mit.edu 37 17 65119097 65119097 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:65119097C>T ENST00000358691.5 - 26 3785 c.3619G>A c.(3619-3621)Gtg>Atg p.V1207M HELZ_ENST00000580168.1_Missense_Mutation_p.V1208M NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GGTAAAGGCACCGACATAACT 0.378000 11 47 0 0 0.001368 0 0 DGKI 9162 broad.mit.edu 37 7 137271843 137271843 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:137271843C>A ENST00000453654.1 - 13 1064 c.525_splice c.e13+1 p.G175_splice DGKI_ENST00000446122.1_Splice_Site_p.G475_splice|DGKI_ENST00000288490.5_Splice_Site_p.G475_splice|DGKI_ENST00000424189.2_Splice_Site_p.G475_splice O75912 DGKI_HUMAN diacylglycerol kinase, iota 475 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CAGTTCTTACCCCTCCCCAGT 0.552000 18 54 5.3912e-06 9.37621e-06 0.006122 1 0 SULT1C3 442038 broad.mit.edu 37 2 108863754 108863754 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:108863754G>T ENST00000329106.2 + 1 104 c.104G>T c.(103-105)tGg>tTg p.W35L SULT1C3_ENST00000376700.1_Missense_Mutation_p.W35L NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 35 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 TCAAAAGAATGGTGGGAAAAA 0.378000 18 53 3.99206e-14 8.45154e-14 0.000958 1 0 NCR1 9437 broad.mit.edu 37 19 55417664 55417664 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:55417664T>A ENST00000594765.1 + 2 67 c.42T>A c.(40-42)tgT>tgA p.C14* NCR1_ENST00000338835.5_Nonsense_Mutation_p.C14*|NCR1_ENST00000350790.5_Nonsense_Mutation_p.C14*|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000447255.1_Nonsense_Mutation_p.C14*|NCR1_ENST00000291890.4_Nonsense_Mutation_p.C14*|NCR1_ENST00000357397.5_Intron O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 14 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CAGGGCTGTGTCTGAGTCAGA 0.612000 14 56 0 0 0.001855 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76171514 76171514 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:76171514T>G ENST00000267938.4 + 8 1192 c.810T>G c.(808-810)ctT>ctG p.L270L UBE2Q2_ENST00000561851.1_Silent_p.L254L|UBE2Q2_ENST00000338677.4_Silent_p.L270L|UBE2Q2_ENST00000569423.1_Silent_p.L235L NM_173469.2 NP_775740.1 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q family member 2 270 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 12 ATATTTTGCTTAACTTCTCTT 0.343000 12 20 0 0 0.000978 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281445 49281445 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:49281445C>A ENST00000282018.3 + 1 495 c.492C>A c.(490-492)atC>atA p.I164I NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 164 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TCATATGGATCCTTATCATGG 0.493000 53 65 5.13769e-22 1.24233e-21 0.003610 1 0 TMEM252 169693 broad.mit.edu 37 9 71152371 71152371 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:71152371T>A ENST00000377311.3 - 2 369 c.317A>T c.(316-318)gAg>gTg p.E106V NM_153237.1 NP_694969.1 transmembrane protein 252 CTTTTCCACCTCAAGGCTCTC 0.498000 16 40 0 0 0.004007 0 0 CUBN 8029 broad.mit.edu 37 10 17168764 17168764 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:17168764T>A ENST00000377833.4 - 4 448 c.383A>T c.(382-384)cAg>cTg p.Q128L CUBN_ENST00000377823.1_Missense_Mutation_p.Q128L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 128 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCTACCTGCTGCAAGCCTTG 0.393000 20 30 0 0 0.001882 0 0 IGHV3-66 28412 broad.mit.edu 37 14 107131154 107131154 + RNA SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:107131154G>A ENST00000390632.2 - 0 305 TGCGTAGTATGTGCTACCACA 0.537000 77 120 0 0 0.003610 0 0 ITGA11 22801 broad.mit.edu 37 15 68650827 68650827 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:68650827T>C ENST00000423218.2 - 6 664 c.569A>G c.(568-570)aAa>aGa p.K190R ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.K190R Q9UKX5 ITA11_HUMAN integrin, alpha 11 190 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GTAAAACTTTTTCAGGATGTT 0.542000 6 13 0 0 0.001984 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075769 145075769 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:145075769G>C ENST00000369359.4 - 1 132 c.94C>G c.(94-96)Cgg>Ggg p.R32G PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R32G|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R32G|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R32G Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCCCGGACCGGTAAGGCGTG 0.716000 T PDGFRB MPD 11 70 0 0 0.000673 0 0 CDH23 64072 broad.mit.edu 37 10 73550138 73550138 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:73550138A>G ENST00000224721.6 + 45 6037 c.6032A>G c.(6031-6033)cAg>cGg p.Q2011R NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2006 Cadherin 19. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTGGGTGCCCAGAGTGGCCTC 0.632000 11 36 0 0 0.000673 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68919756 68919756 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:68919756A>T ENST00000356291.2 - 10 1247 c.1188T>A c.(1186-1188)gaT>gaA p.D396E RP11-453E17.1_ENST00000500538.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 396 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TGTCATGATTATCATAAACCA 0.368000 16 45 0 0 0.004007 0 0 PARD3 56288 broad.mit.edu 37 10 34666965 34666965 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:34666965A>T ENST00000374789.3 - 10 1794 c.1469T>A c.(1468-1470)gTg>gAg p.V490E PARD3_ENST00000340077.5_Missense_Mutation_p.V490E|PARD3_ENST00000374773.1_Missense_Mutation_p.V490E|PARD3_ENST00000374788.3_Missense_Mutation_p.V490E|PARD3_ENST00000545260.1_Missense_Mutation_p.V446E|PARD3_ENST00000374776.1_Missense_Mutation_p.V490E|PARD3_ENST00000374794.3_Missense_Mutation_p.V446E|PARD3_ENST00000544292.1_Missense_Mutation_p.V220E|PARD3_ENST00000346874.4_Missense_Mutation_p.V490E|PARD3_ENST00000545693.1_Missense_Mutation_p.V490E|PARD3_ENST00000374790.3_Missense_Mutation_p.V446E|PARD3_ENST00000350537.4_Missense_Mutation_p.V490E NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 490 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AATGTTTTTCACATAGATTGG 0.478000 30 86 0 0 0.001271 0 0 ACSS1 84532 broad.mit.edu 37 20 24995843 24995843 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:24995843C>A ENST00000537502.1 - 6 2552 c.1021G>T c.(1021-1023)Gcc>Tcc p.A341S ACSS1_ENST00000432802.2_Missense_Mutation_p.A424S|ACSS1_ENST00000542618.1_Missense_Mutation_p.A303S|ACSS1_ENST00000323482.4_Missense_Mutation_p.A424S Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 424 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CACTCCCAGGCCTCACAGTTG 0.532000 20 39 7.41877e-09 1.39415e-08 0.001882 1 0 YEATS2 55689 broad.mit.edu 37 3 183508669 183508669 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:183508669G>A ENST00000305135.5 + 21 3193 c.2998G>A c.(2998-3000)Gcc>Acc p.A1000T NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1000 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGTGAGCCAGGCCACCGTGGG 0.597000 32 140 0 0 0.001786 0 0 EPHA5 2044 broad.mit.edu 37 4 66356139 66356139 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:66356139C>G ENST00000273854.3 - 5 1958 c.1358G>C c.(1357-1359)gGa>gCa p.G453A EPHA5_ENST00000511294.1_Missense_Mutation_p.G453A|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.G453A NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 453 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CTGCCGGGCTCCTGGGCTCAA 0.468000 TSP Lung(17;0.13) 21 58 0 0 0.001523 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291747 141291747 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:141291747G>A ENST00000247452.3 - 3 374 c.27C>T c.(25-27)ttC>ttT p.F9F NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 9 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CAACGTTGCGGAATGGAACGC 0.537000 HNSCC(46;0.14) 49 32 0 0 0.003610 0 0 KBTBD3 143879 broad.mit.edu 37 11 105925058 105925058 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:105925058C>A ENST00000526793.1 - 3 517 c.358G>T c.(358-360)Gat>Tat p.D120Y KBTBD3_ENST00000534815.1_Missense_Mutation_p.D41Y|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D120Y NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 116 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TCCACATTATCATCTGTTATT 0.328000 8 25 0.00307968 0.0049967 0.003080 1 0 LAMA1 284217 broad.mit.edu 37 18 7024446 7024446 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:7024446G>A ENST00000389658.3 - 18 2515 c.2422C>T c.(2422-2424)Ctc>Ttc p.L808F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 808 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCATCATTGAGGTGGCAGGTG 0.438000 8 73 0 0 0.003080 0 0 AMER3 205147 broad.mit.edu 37 2 131520349 131520349 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:131520349G>A ENST00000423981.1 + 2 814 c.704G>A c.(703-705)tGt>tAt p.C235Y AMER3_ENST00000321420.4_Missense_Mutation_p.C235Y NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AGGGCCCTGTGTGAGGACGTG 0.662000 26 130 0 0 0.001786 0 0 PCSK6 5046 broad.mit.edu 37 15 101872152 101872152 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:101872152C>T ENST00000348070.1 - 15 1939 c.1940G>A c.(1939-1941)cGg>cAg p.R647Q PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R647Q NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 648 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTCCAGCATCCGCGAGCGGGA 0.567000 12 19 0 0 0.001368 0 0 BNC2 54796 broad.mit.edu 37 9 16437135 16437135 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:16437135G>A ENST00000380672.4 - 6 1114 c.1057C>T c.(1057-1059)Cgg>Tgg p.R353W BNC2_ENST00000380666.2_Missense_Mutation_p.R353W|BNC2_ENST00000380667.2_Missense_Mutation_p.R286W|BNC2_ENST00000545497.1_Missense_Mutation_p.R258W NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding p.R353W(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CTGGGTTCCCGCAGCCTCAAC 0.468000 30 101 0 0 0.001271 0 0 TBX22 50945 broad.mit.edu 37 X 79286337 79286337 + Missense_Mutation SNP T T G rs144871606 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:79286337T>G ENST00000442340.1 + 9 1420 c.930T>G c.(928-930)agT>agG p.S310R TBX22_ENST00000373294.5_Missense_Mutation_p.S430R|TBX22_ENST00000373291.1_Missense_Mutation_p.S310R|TBX22_ENST00000373296.3_Missense_Mutation_p.S430R NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 430 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AAGACTCCAGTGATCAGTATC 0.433000 41 36 0 0 0.001485 0 0 OR2T12 127064 broad.mit.edu 37 1 248458876 248458876 + Missense_Mutation SNP T T A rs11339452 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248458876T>A ENST00000317996.1 - 1 4 c.5A>T c.(4-6)gAg>gTg p.E2V NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E2fs*2(1)|p.E2G(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTTCTCATCTCCATAATTTC 0.428000 45 60 0 0 0.003610 0 0 EDA2R 60401 broad.mit.edu 37 X 65835806 65835806 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:65835806T>G ENST00000374719.3 - 2 113 c.57A>C c.(55-57)caA>caC p.Q19H EDA2R_ENST00000456230.2_Missense_Mutation_p.Q19H|EDA2R_ENST00000396050.1_Missense_Mutation_p.Q19H|EDA2R_ENST00000253392.5_Missense_Mutation_p.Q19H|EDA2R_ENST00000450752.1_Missense_Mutation_p.Q19H|EDA2R_ENST00000451436.2_Missense_Mutation_p.N14T NM_021783.3 NP_068555.1 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 19 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 GACCACACCGTTGGCAGGTGA 0.502000 8 4 0 0 0.004482 0 0 ZNF479 90827 broad.mit.edu 37 7 57188157 57188157 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:57188157T>G ENST00000331162.4 - 5 1235 c.965A>C c.(964-966)gAg>gCg p.E322A NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GCAGGGTTTCTCTCCAGTATG 0.443000 15 37 0 0 0.004990 0 0 CACNA1E 777 broad.mit.edu 37 1 181759621 181759621 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:181759621C>T ENST00000526775.1 + 43 5935 c.5770C>T c.(5770-5772)Ccc>Tcc p.P1924S CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1894S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1875S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1943S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1924S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1943S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1550S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1943 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCCACTCTCTCCCCAGGATAT 0.498000 9 35 0 0 0.000443 0 0 RIN3 79890 broad.mit.edu 37 14 93118666 93118666 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:93118666C>G ENST00000216487.7 + 6 1431 c.1272C>G c.(1270-1272)gaC>gaG p.D424E RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 424 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GCCCTGAGGACACGCCCCGGG 0.642000 22 50 0 0 0.001523 0 0 KRT12 3859 broad.mit.edu 37 17 39019473 39019473 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:39019473C>A ENST00000251643.4 - 6 1241 c.1218G>T c.(1216-1218)gaG>gaT p.E406D RP5-1110E20.1_ENST00000579136.1_RNA NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 406 Coil 2.|Rod. visual perception intermediate filament structural molecule activity p.E406D(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) CGTTCTGGCGCTCTGCGTCCG 0.672000 18 26 3.32936e-07 6.00901e-07 0.006122 1 0 IGKV1-5 28299 broad.mit.edu 37 2 89247251 89247251 + RNA SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:89247251A>G ENST00000496168.1 - 0 224 TGGGAGCCAGAGCAGCAGGAG 0.517000 50 137 0 0 0.003610 0 0 OR2A12 346525 broad.mit.edu 37 7 143793100 143793100 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:143793100A>G ENST00000408949.2 + 1 960 c.900A>G c.(898-900)ctA>ctG p.L300L NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) AAGGGGCTCTAAAGAGAGTCC 0.453000 68 186 0 0 0.003610 0 0 RFTN1 23180 broad.mit.edu 37 3 16475401 16475401 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:16475401G>T ENST00000334133.4 - 3 561 c.289C>A c.(289-291)Ctg>Atg p.L97M RFTN1_ENST00000432519.1_Missense_Mutation_p.L61M NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 97 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 ATGTGCTCCAGGGGCGTCTTC 0.597000 50 103 2.55665e-31 6.44622e-31 0.003610 1 0 POMT1 10585 broad.mit.edu 37 9 134394277 134394277 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:134394277G>A ENST00000423007.1 + 15 1861 c.1419G>A c.(1417-1419)ggG>ggA p.G473G POMT1_ENST00000541219.1_Silent_p.G251G|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000341012.7_Silent_p.G419G|POMT1_ENST00000372228.3_Silent_p.G495G|POMT1_ENST00000402686.3_Silent_p.G473G|POMT1_ENST00000419118.2_Silent_p.G321G|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000404875.2_Silent_p.G356G|POMT1_ENST00000354713.4_Silent_p.G443G NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 495 MIR 3. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) AGATCGTCGGGGAGAAGCTGT 0.677000 22 47 0 0 0.002299 0 0 ZNF10 7556 broad.mit.edu 37 12 133733348 133733348 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133733348A>T ENST00000248211.6 + 5 1738 c.1516A>T c.(1516-1518)Aag>Tag p.K506* ZNF10_ENST00000426665.2_Nonsense_Mutation_p.K506*|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Nonsense_Mutation_p.K372*|CTD-2140B24.4_ENST00000540096.2_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TGACCTCATTAAGCACCAGAG 0.413000 13 42 0 0 0.001368 0 0 PTPN22 26191 broad.mit.edu 37 1 114376998 114376998 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:114376998G>T ENST00000359785.5 - 15 2093 c.1958C>A c.(1957-1959)tCa>tAa p.S653* PTPN22_ENST00000528414.1_Nonsense_Mutation_p.S598*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.S653*|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Nonsense_Mutation_p.S409*|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.S526* NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 653 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCATTCCAGTGATGTTCCAAT 0.363000 26 71 1.1804e-14 2.53646e-14 0.003954 1 0 TRANK1 9881 broad.mit.edu 37 3 36899135 36899135 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:36899135G>T ENST00000429976.2 - 12 2193 c.1946C>A c.(1945-1947)aCt>aAt p.T649N TRANK1_ENST00000301807.6_Missense_Mutation_p.T99N|TRANK1_ENST00000428977.2_Missense_Mutation_p.T99N O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 649 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TGTTCTGGCAGTGGCACCACA 0.597000 35 34 1.26612e-14 2.71775e-14 0.003271 1 0 ZNF540 163255 broad.mit.edu 37 19 38103945 38103945 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:38103945T>A ENST00000592533.1 + 5 2096 c.1764T>A c.(1762-1764)ttT>ttA p.F588L ZNF540_ENST00000589117.1_Missense_Mutation_p.F556L|ZNF540_ENST00000316433.4_Missense_Mutation_p.F588L|ZNF540_ENST00000343599.5_Missense_Mutation_p.F588L NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAAGGCCTTTAGTCGTAGTG 0.408000 18 51 0 0 0.004990 0 0 XRCC1 7515 broad.mit.edu 37 19 44051050 44051050 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:44051050T>A ENST00000262887.5 - 11 1826 c.1279A>T c.(1279-1281)Aag>Tag p.K427* XRCC1_ENST00000543982.1_Nonsense_Mutation_p.K396* P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 427 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) TGAGGAAGCTTGGGGGCTTCA 0.617000 Other BER factors 18 64 0 0 0.006122 0 0 OBSCN 84033 broad.mit.edu 37 1 228492877 228492877 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:228492877G>C ENST00000570156.2 + 54 14394 c.14320G>C c.(14320-14322)Gcc>Ccc p.A4774P OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1451P|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3817 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACAGAAGGGGCCACGGCTAT 0.567000 22 58 0 0 0.002299 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169141 32169141 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:32169141C>T ENST00000375023.3 - 22 4030 c.3892G>A c.(3892-3894)Gcc>Acc p.A1298T NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1298 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACCAGCAGGGCCAGGGAGGGC 0.637000 45 25 0 0 0.002852 0 0 AP4B1 10717 broad.mit.edu 37 1 114442738 114442738 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:114442738C>T ENST00000369569.1 - 5 1182 c.902G>A c.(901-903)cGc>cAc p.R301H AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R208H|AP4B1_ENST00000369567.1_Missense_Mutation_p.R133H|AP4B1_ENST00000256658.4_Missense_Mutation_p.R301H NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 301 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAGATCTGGCGTACATGACA 0.473000 41 92 0 0 0.005524 0 0 ADAM11 4185 broad.mit.edu 37 17 42854579 42854579 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:42854579C>T ENST00000200557.6 + 21 1896 c.1727C>T c.(1726-1728)aCg>aTg p.T576M ADAM11_ENST00000535346.1_Missense_Mutation_p.T376M NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 576 Cys-rich. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GTGGAGGGGACGGAGCGTGGG 0.647000 9 35 0 0 0.000443 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587866 111587866 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:111587866G>T ENST00000368847.4 + 4 1454 c.1101G>T c.(1099-1101)atG>atT p.M367I NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 367 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) TGGGAGAAATGGCTATTCCTG 0.423000 34 97 1.30988e-24 3.22964e-24 0.002096 1 0 AHCTF1 25909 broad.mit.edu 37 1 247013403 247013403 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247013403C>A ENST00000366508.1 - 33 6146 c.6010G>T c.(6010-6012)Gcc>Tcc p.A2004S AHCTF1_ENST00000391829.2_Missense_Mutation_p.A1969S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.A1978S|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1969 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTAGGTATGGCAGACATATCA 0.428000 32 126 8.16721e-17 1.82738e-16 0.002096 1 0 GALNTL5 168391 broad.mit.edu 37 7 151711783 151711783 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:151711783A>G ENST00000392800.2 + 8 1335 c.1081A>G c.(1081-1083)Atc>Gtc p.I361V GALNTL5_ENST00000431418.2_Missense_Mutation_p.I361V NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 361 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) AGTAGGACATATCAGTAAGAA 0.408000 22 57 0 0 0.001882 0 0 OR6S1 341799 broad.mit.edu 37 14 21109748 21109748 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:21109748G>T ENST00000320704.3 - 1 102 c.103C>A c.(103-105)Ctt>Att p.L35I NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) AGATAGACAAGAAGAAACACA 0.478000 37 93 2.47316e-13 5.11714e-13 0.003271 1 0 NBAS 51594 broad.mit.edu 37 2 15470842 15470842 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:15470842C>A ENST00000281513.5 - 36 4252 c.4227G>T c.(4225-4227)tgG>tgT p.W1409C NBAS_ENST00000441750.1_Missense_Mutation_p.W1289C NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1409 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TAGCAGTGGTCCAGCGCAATA 0.468000 19 57 2.4624e-09 4.69775e-09 0.001216 1 0 FLRT2 23768 broad.mit.edu 37 14 86087868 86087868 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:86087868C>T ENST00000330753.4 + 2 777 c.10C>T c.(10-12)Cag>Tag p.Q4* FLRT2_ENST00000554746.1_Nonsense_Mutation_p.Q4* NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 4 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) AATGGGCCTACAGACCACAAA 0.443000 24 73 0 0 0.003330 0 0 LILRA6 79168 broad.mit.edu 37 19 54742904 54742904 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54742904G>T ENST00000396365.2 - 8 1410 c.1371C>A c.(1369-1371)gtC>gtA p.V457V LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.V440V|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron NM_024318.2 NP_077294.2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGAACACCAGGACCAAGCCTG 0.577000 19 55 1.33834e-09 2.57284e-09 0.000958 1 0 TCEB3B 51224 broad.mit.edu 37 18 44560992 44560992 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:44560992G>T ENST00000332567.4 - 1 996 c.644C>A c.(643-645)cCc>cAc p.P215H KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 215 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTTCCCCTGGGGTTGGCCCTG 0.662000 22 9 2.00529e-23 4.92007e-23 0.003330 1 0 CDH20 28316 broad.mit.edu 37 18 59203814 59203814 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:59203814C>T ENST00000262717.4 + 8 1758 c.1360C>T c.(1360-1362)Cgg>Tgg p.R454W CDH20_ENST00000538374.1_Missense_Mutation_p.R454W|CDH20_ENST00000536675.2_Missense_Mutation_p.R454W Q9HBT6 CAD20_HUMAN cadherin 20, type 2 454 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) ACCCCTAGACCGGGAAGAATT 0.408000 52 55 0 0 0.003610 0 0 DUSP9 1852 broad.mit.edu 37 X 152915660 152915660 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:152915660A>C ENST00000342782.3 + 4 1320 c.1055A>C c.(1054-1056)cAg>cCg p.Q352P DUSP9_ENST00000370167.4_Missense_Mutation_p.Q352P Q99956 DUS9_HUMAN dual specificity phosphatase 9 352 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCCACTCGCAGGAGCAGGGC 0.632000 40 36 0 0 0.001287 0 0 CACHD1 57685 broad.mit.edu 37 1 65138857 65138857 + Missense_Mutation SNP G G T rs148780022 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:65138857G>T ENST00000371073.2 + 18 2527 c.2527G>T c.(2527-2529)Gac>Tac p.D843Y CACHD1_ENST00000290039.5_Missense_Mutation_p.D792Y|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 843 Cache 2. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CATAATGGAGGACAGGGGTTA 0.453000 99 79 2.65435e-51 6.83861e-51 0.003610 1 0 COL25A1 84570 broad.mit.edu 37 4 109745314 109745314 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:109745314G>T ENST00000399126.1 - 35 2391 c.1861C>A c.(1861-1863)Cag>Aag p.Q621K COL25A1_ENST00000399132.1_Intron|COL25A1_ENST00000399127.1_Missense_Mutation_p.Q624K NM_032518.2 NP_115907.2 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 411 Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGTACATGCTGGGATGGAGAG 0.453000 27 59 2.44723e-14 5.21401e-14 0.004656 1 0 GJA5 2702 broad.mit.edu 37 1 147231343 147231343 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:147231343C>A ENST00000271348.2 - 2 165 c.4G>T c.(4-6)Ggc>Tgc p.G2C GJA5_ENST00000369237.1_Missense_Mutation_p.G2C NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 2 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CTCCAATCGCCCATCTTGGCA 0.493000 16 69 1.99824e-07 3.62609e-07 0.004990 1 0 KRT78 196374 broad.mit.edu 37 12 53233651 53233651 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:53233651G>T ENST00000359499.4 - 7 846 c.835C>A c.(835-837)Ctg>Atg p.L279M KRT78_ENST00000304620.4_Missense_Mutation_p.L389M Q8N1N4 K2C78_HUMAN keratin 78 389 Linker 12.|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 AGCCGGGCCAGGTTCTGCTTG 0.637000 20 50 7.21436e-19 1.67778e-18 0.001216 1 0 TIE1 7075 broad.mit.edu 37 1 43770797 43770797 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:43770797C>A ENST00000372476.3 + 2 413 c.334C>A c.(334-336)Cgg>Agg p.R112R TIE1_ENST00000441333.2_Silent_p.R112R|TIE1_ENST00000538015.1_Silent_p.R112R NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 112 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCTGGGGCGCGGCGCACGCG 0.701000 12 16 4.3838e-07 7.88377e-07 0.001855 1 0 FOXA2 3170 broad.mit.edu 37 20 22563227 22563227 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:22563227G>A ENST00000419308.2 - 2 837 c.635C>T c.(634-636)tCc>tTc p.S212F FOXA2_ENST00000377115.4_Missense_Mutation_p.S212F|FOXA2_ENST00000319993.4_Missense_Mutation_p.S218F NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 212 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) GTCGTTGAAGGAGAGCGAGTG 0.607000 15 37 0 0 0.000958 0 0 ZNF385D 79750 broad.mit.edu 37 3 21465512 21465512 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:21465512G>T ENST00000281523.2 - 7 1415 c.897C>A c.(895-897)ccC>ccA p.P299P NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 299 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TAGGTTTCGGGGGCTTCCCAG 0.418000 34 40 2.54651e-27 6.30968e-27 0.001485 1 0 WBSCR28 135886 broad.mit.edu 37 7 73279506 73279506 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:73279506G>T ENST00000320531.2 + 2 292 c.256G>T c.(256-258)Gtc>Ttc p.V86F NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 86 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TCTGATACAGGTCCCCGTATG 0.692000 34 75 4.02929e-09 7.62185e-09 0.002096 1 0 CD36 948 broad.mit.edu 37 7 80285972 80285972 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:80285972C>T ENST00000435819.1 + 7 921 c.237C>T c.(235-237)aaC>aaT p.N79N CD36_ENST00000534394.1_Silent_p.N3N|CD36_ENST00000432207.1_Silent_p.N79N|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000538969.1_Silent_p.N79N|CD36_ENST00000309881.7_Silent_p.N79N|CD36_ENST00000394788.3_Silent_p.N79N|CD36_ENST00000544133.1_Silent_p.N79N|CD36_ENST00000447544.2_Silent_p.N79N|CD36_ENST00000433696.2_Silent_p.N79N P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 79 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TGATGATGAACAGCAGCAACA 0.388000 12 53 0 0 0.001368 0 0 C12orf29 91298 broad.mit.edu 37 12 88433979 88433979 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:88433979A>T ENST00000356891.3 + 2 348 c.145A>T c.(145-147)Ata>Tta p.I49L C12orf29_ENST00000548757.2_3'UTR NM_001009894.2 NP_001009894.2 Q8N999 CL029_HUMAN chromosome 12 open reading frame 29 49 large_intestine(3)|lung(1)|ovary(1) 5 AGATGCAGATATATACAGTGC 0.308000 23 42 0 0 0.003330 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278538 7278538 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:7278538T>A ENST00000436587.2 + 3 1096 c.873T>A c.(871-873)taT>taA p.Y291* C1GALT1_ENST00000223122.2_Nonsense_Mutation_p.Y291*|C1GALT1_ENST00000402468.3_Nonsense_Mutation_p.Y291* NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 291 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) ATTACAACTATTATCCTCCTG 0.313000 10 26 0 0 0.000978 0 0 C18orf56 494514 broad.mit.edu 37 18 657969 657969 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:657969G>C ENST00000323813.3 - 1 371 c.279C>G c.(277-279)tcC>tcG p.S93S TYMS_ENST00000323274.10_Intron|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323224.7_Intron|C18orf56_ENST00000585033.1_Silent_p.S93S NM_001012716.2 NP_001012734.2 Q8TAI1 CR056_HUMAN chromosome 18 open reading frame 56 93 protein binding GGCCCCTGCGGGACGGGTGGC 0.716000 3 14 0 0 0.004672 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74911282 74911282 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:74911282A>G ENST00000289575.5 + 11 2008 c.1613A>G c.(1612-1614)aAc>aGc p.N538S SLCO2B1_ENST00000428359.2_Missense_Mutation_p.N516S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.N311S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.N394S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.N311S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.N422S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.N283S NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 538 Kazal-like. sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) TTCTACACCAACTGCAGCTGC 0.622000 19 87 0 0 0.006122 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 64 0 0 0.004672 0 0 MYH4 4622 broad.mit.edu 37 17 10348361 10348361 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10348361G>A ENST00000255381.2 - 37 5508 c.5398C>T c.(5398-5400)Cgt>Tgt p.R1800C CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1800 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCATCCAGACGGAGCTGCAGA 0.562000 60 111 0 0 0.003610 0 0 CCDC142 84865 broad.mit.edu 37 2 74709692 74709692 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:74709692G>A ENST00000393965.3 - 1 669 c.273C>T c.(271-273)ctC>ctT p.L91L CCDC142_ENST00000290418.4_Silent_p.L91L|CCDC142_ENST00000471713.1_Intron NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 91 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 ACACCGCCCGGAGACGCTGCA 0.716000 7 8 0 0 0.001984 0 0 RINT1 60561 broad.mit.edu 37 7 105204334 105204334 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:105204334G>A ENST00000257700.2 + 12 2057 c.1826G>A c.(1825-1827)cGt>cAt p.R609H NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 609 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ATGTTGACCCGTCAAGTAGAC 0.388000 12 43 0 0 0.000978 0 0 DHRS7 51635 broad.mit.edu 37 14 60622799 60622799 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:60622799G>T ENST00000216500.5 - 3 660 c.205C>A c.(205-207)Cag>Aag p.Q69K PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.Q69K|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.Q19K Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 69 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) TTAGACAACTGGTAAGCCAGC 0.478000 23 67 2.89027e-11 5.74333e-11 0.002299 1 0 SBSN 374897 broad.mit.edu 37 19 36018649 36018649 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:36018649C>T ENST00000452271.2 - 1 563 c.535G>A c.(535-537)Ggg>Agg p.G179R SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 178 Ala/Gly/His-rich. extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCGGCCTGCCCTGCAGCATGG 0.637000 8 23 0 0 0.003080 0 0 MECOM 2122 broad.mit.edu 37 3 168806817 168806817 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:168806817G>T ENST00000464456.1 - 14 4165 c.2965C>A c.(2965-2967)Cag>Aag p.Q989K MECOM_ENST00000392736.3_Missense_Mutation_p.Q998K|MECOM_ENST00000264674.3_Missense_Mutation_p.Q1063K|MECOM_ENST00000472280.1_Missense_Mutation_p.Q999K|MECOM_ENST00000468789.1_Missense_Mutation_p.Q998K|MECOM_ENST00000460814.1_Missense_Mutation_p.Q989K|MECOM_ENST00000433243.2_Missense_Mutation_p.Q999K|MECOM_ENST00000494292.1_Missense_Mutation_p.Q1177K NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGTAACGGCTGCTTAAGTTCC 0.393000 21 82 4.4004e-07 7.90654e-07 0.003330 1 0 STEAP3 55240 broad.mit.edu 37 2 120003239 120003239 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:120003239T>A ENST00000354888.5 + 3 671 c.167T>A c.(166-168)gTg>gAg p.V56E STEAP3_ENST00000450943.2_Missense_Mutation_p.V56E|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Missense_Mutation_p.V56E|STEAP3_ENST00000409811.1_Missense_Mutation_p.V56E|STEAP3_ENST00000393110.2_Missense_Mutation_p.V66E|STEAP3_ENST00000425223.2_Missense_Mutation_p.V56E|STEAP3_ENST00000393106.2_Missense_Mutation_p.V56E|STEAP3_ENST00000393108.2_Missense_Mutation_p.V56E NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 56 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 AAAGTGGTGGTGGGGAGCCGC 0.637000 11 31 0 0 0.000673 0 0 PTPRC 5788 broad.mit.edu 37 1 198721748 198721748 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:198721748A>T ENST00000367376.2 + 31 3521 c.3350A>T c.(3349-3351)cAg>cTg p.Q1117L PTPRC_ENST00000594404.1_Missense_Mutation_p.Q956L|PTPRC_ENST00000348564.6_Missense_Mutation_p.Q958L|PTPRC_ENST00000442510.2_Missense_Mutation_p.Q1119L|PTPRC_ENST00000352140.3_Missense_Mutation_p.Q1069L NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1117 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 ACTGTGTACCAGTACCAATAT 0.378000 10 39 0 0 0.001368 0 0 UGT2B11 10720 broad.mit.edu 37 4 70080161 70080161 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:70080161C>A ENST00000446444.1 - 1 288 c.280G>T c.(280-282)Gtt>Ttt p.V94F RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 94 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 CATCTCTTAACCTGTTGCATG 0.313000 48 118 4.64027e-19 1.08417e-18 0.003610 1 0 A1CF 29974 broad.mit.edu 37 10 52575947 52575947 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:52575947G>A ENST00000395489.2 - 11 1335 c.939C>T c.(937-939)ggC>ggT p.G313G ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.G320G|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Silent_p.G328G|A1CF_ENST00000373997.3_Silent_p.G320G|A1CF_ENST00000373993.1_Silent_p.G320G|A1CF_ENST00000395495.1_Silent_p.G265G|A1CF_ENST00000282641.2_Silent_p.G320G NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 320 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GCAGCATGGTGCCCCTTCCAC 0.517000 12 53 0 0 0.000978 0 0 CNKSR3 154043 broad.mit.edu 37 6 154762449 154762449 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:154762449C>G ENST00000607772.1 - 4 1028 c.484G>C c.(484-486)Gac>Cac p.D162H CNKSR3_ENST00000479339.1_Missense_Mutation_p.D82H NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 162 CRIC. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) GTGGTCAGGTCCAAGCAAAGC 0.373000 35 76 0 0 0.003755 0 0 GP9 2815 broad.mit.edu 37 3 128780893 128780893 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:128780893C>G ENST00000307395.4 + 3 533 c.311C>G c.(310-312)aCg>aGg p.T104R NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) 104 LRRCT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) GAGGACCGCACGCCCGAGGCC 0.692000 15 64 0 0 0.004007 0 0 IGSF9B 22997 broad.mit.edu 37 11 133794770 133794770 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:133794770G>T ENST00000321016.8 - 15 2294 c.2064C>A c.(2062-2064)gcC>gcA p.A688A IGSF9B_ENST00000533871.2_Silent_p.A688A Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 688 Fibronectin type-III 2. integral to membrane|plasma membrane p.A688A(1)|p.A144A(1) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCTGCATGACGGCCAGAACCC 0.577000 37 134 3.09479e-21 7.40314e-21 0.001485 1 0 TTN 7273 broad.mit.edu 37 2 179482516 179482516 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:179482516A>T ENST00000589042.1 - 253 47786 c.47562T>A c.(47560-47562)gcT>gcA p.A15854A TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.A6981A|TTN_ENST00000359218.5_Silent_p.A6914A|TTN_ENST00000591111.1_Silent_p.A14213A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.A6789A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.A13286A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14213 Fibronectin type-III 15. 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) CAATTGGATCAGCAACTTTGA 0.388000 17 35 0 0 0.006122 0 0 ESR1 2099 broad.mit.edu 37 6 152382208 152382208 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:152382208C>T ENST00000440973.1 + 8 1688 c.1318C>T c.(1318-1320)Ctg>Ttg p.L440L ESR1_ENST00000406599.1_Silent_p.L179L|ESR1_ENST00000456483.2_Silent_p.L328L|ESR1_ENST00000443427.1_Silent_p.L440L|ESR1_ENST00000544394.1_Silent_p.L267L|ESR1_ENST00000338799.5_Silent_p.L440L|ESR1_ENST00000206249.3_Silent_p.L440L NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 440 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CATGATGAATCTGCAGGGAGA 0.413000 13 15 0 0 0.003163 0 0 TLE3 7090 broad.mit.edu 37 15 70351092 70351092 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:70351092G>A ENST00000558939.1 - 11 2205 c.828C>T c.(826-828)gcC>gcT p.A276A TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Silent_p.A286A|TLE3_ENST00000539550.1_Silent_p.A220A|TLE3_ENST00000451782.2_Silent_p.A276A|TLE3_ENST00000560589.1_Silent_p.A220A|TLE3_ENST00000317509.8_Silent_p.A276A|TLE3_ENST00000557907.1_Silent_p.A276A|TLE3_ENST00000560939.1_Silent_p.A281A|TLE3_ENST00000440567.3_Silent_p.A269A|TLE3_ENST00000557997.1_Silent_p.A276A|TLE3_ENST00000442299.2_Silent_p.A276A|TLE3_ENST00000558379.1_Silent_p.A276A|TLE3_ENST00000559048.1_Silent_p.A281A|TLE3_ENST00000558201.1_Silent_p.A282A Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 276 Pro/Ser-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding p.A276A(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TCAGGCTACGGGCCTTGTCCA 0.582000 5 2 0 0 0.000602 0 0 RYR2 6262 broad.mit.edu 37 1 237608772 237608772 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:237608772C>A ENST00000366574.2 + 14 1559 c.1242C>A c.(1240-1242)cgC>cgA p.R414R RYR2_ENST00000360064.6_Silent_p.R412R|RYR2_ENST00000542537.1_Silent_p.R398R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 414 R -> L (in CPVT1). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGAATCACGCACAGCCCGAG 0.393000 25 109 2.21704e-12 4.48096e-12 0.002780 1 0 PTH2R 5746 broad.mit.edu 37 2 209308084 209308084 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:209308084G>A ENST00000272847.2 + 6 734 c.521G>A c.(520-522)tGc>tAc p.C174Y PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 174 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CGATTGCATTGCACTAGGAAC 0.418000 17 20 0 0 0.006122 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182502 140182502 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140182502G>A ENST00000522353.2 + 1 1720 c.1720G>A c.(1720-1722)Ggt>Agt p.G574S PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G574S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGGCATCGGTGGCGCAGT 0.682000 44 86 0 0 0.002222 0 0 CRELD2 79174 broad.mit.edu 37 22 50315316 50315316 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:50315316C>A ENST00000404488.3 + 5 634 c.499C>A c.(499-501)Cgg>Agg p.R167R CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000403427.3_Silent_p.R167R|CRELD2_ENST00000328268.4_Silent_p.R167R|CRELD2_ENST00000407217.3_Silent_p.R167R NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 167 EGF-like 1. endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) CGGGTCCTGCCGGTGCCACAT 0.647000 29 102 1.75199e-13 3.64377e-13 0.001271 1 0 STK10 6793 broad.mit.edu 37 5 171523476 171523476 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:171523476T>A ENST00000176763.5 - 8 1302 c.959A>T c.(958-960)gAc>gTc p.D320V NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 320 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCCCGGCCGTCTTCGATCTC 0.642000 32 81 0 0 0.001786 0 0 TGFBI 7045 broad.mit.edu 37 5 135394834 135394834 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:135394834G>T ENST00000442011.2 + 13 1895 c.1734G>T c.(1732-1734)ctG>ctT p.L578L TGFBI_ENST00000508076.1_5'UTR|TGFBI_ENST00000305126.8_Silent_p.L578L NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 578 FAS1 4. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATGAAATCCTGGTTAGCGGAG 0.502000 10 18 5.16669e-11 1.02365e-10 0.000978 1 0 ZNF92 168374 broad.mit.edu 37 7 64863788 64863788 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:64863788A>G ENST00000328747.7 + 4 960 c.761A>G c.(760-762)gAg>gGg p.E254G ZNF92_ENST00000450302.2_Missense_Mutation_p.E185G|ZNF92_ENST00000431504.1_Missense_Mutation_p.E178G|ZNF92_ENST00000357512.2_Missense_Mutation_p.E222G NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) CATACTGGAGAGAAACCCTAC 0.348000 27 36 0 0 0.001271 0 0 RORB 6096 broad.mit.edu 37 9 77282809 77282809 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:77282809T>A ENST00000376896.2 + 8 1715 c.1103T>A c.(1102-1104)aTa>aAa p.I368K RORB_ENST00000396204.2_Missense_Mutation_p.I379K NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 379 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GCTGTTCTGATATCTCCAGGT 0.413000 12 56 0 0 0.000978 0 0 PALM 5064 broad.mit.edu 37 19 746513 746513 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:746513C>A ENST00000264560.7 + 8 925 c.731C>A c.(730-732)cCg>cAg p.P244Q PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.P288Q NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 288 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) TCCGGCCCGCCGGGGATCCAG 0.697000 10 40 3.86212e-05 6.52464e-05 0.000673 1 0 WWC2 80014 broad.mit.edu 37 4 184186193 184186193 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:184186193G>T ENST00000403733.3 + 12 2171 c.1972G>T c.(1972-1974)Gtg>Ttg p.V658L WWC2_ENST00000378925.3_Missense_Mutation_p.V560L|WWC2_ENST00000448232.2_Missense_Mutation_p.V658L|WWC2_ENST00000513834.1_Missense_Mutation_p.V609L|WWC2_ENST00000504005.1_Missense_Mutation_p.V340L NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 658 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) AACCACTTGTGTGTCGGCTGC 0.483000 15 24 1.52009e-12 3.09414e-12 0.003163 1 0 PCDHB15 56121 broad.mit.edu 37 5 140625859 140625859 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140625859A>T ENST00000231173.3 + 1 713 c.713A>T c.(712-714)aAt>aTt p.N238I NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 238 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCAATGACAATGCCCCGGAG 0.577000 8 23 0 0 0.004482 0 0 LYZL2 119180 broad.mit.edu 37 10 30915774 30915774 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:30915774C>G ENST00000375318.2 - 2 265 c.209G>C c.(208-210)cGt>cCt p.R70P NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 24 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) CAGTTTGCAACGAGTGTAGAT 0.522000 27 49 0 0 0.001271 0 0 SEC16A 9919 broad.mit.edu 37 9 139353630 139353630 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:139353630C>G ENST00000313050.7 - 15 5438 c.5365G>C c.(5365-5367)Gcc>Ccc p.A1789P SEC16A_ENST00000371706.3_Missense_Mutation_p.A1611P|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1611P|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1611P NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1611 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) AGGGACTGGGCGTACTCATAG 0.522000 60 65 0 0 0.003610 0 0 NRXN1 9378 broad.mit.edu 37 2 51254722 51254722 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:51254722G>T ENST00000404971.1 - 2 2029 c.690C>A c.(688-690)aaC>aaA p.N230K NRXN1_ENST00000405472.3_Missense_Mutation_p.N230K|NRXN1_ENST00000402717.3_Missense_Mutation_p.N230K|NRXN1_ENST00000401669.2_Missense_Mutation_p.N230K|NRXN1_ENST00000405581.1_Missense_Mutation_p.N230K|NRXN1_ENST00000406316.2_Missense_Mutation_p.N230K|NRXN1_ENST00000406859.3_Missense_Mutation_p.N230K NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 230 EGF-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACACACCTCCGTTGAGGCACA 0.711000 11 15 4.68919e-08 8.65e-08 0.000673 1 0 ACAN 176 broad.mit.edu 37 15 89401765 89401765 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:89401765C>A ENST00000439576.2 + 12 6323 c.5949C>A c.(5947-5949)gaC>gaA p.D1983E ACAN_ENST00000352105.7_Missense_Mutation_p.D1983E|ACAN_ENST00000561243.1_Missense_Mutation_p.D1983E|ACAN_ENST00000559004.1_Missense_Mutation_p.D1983E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1983 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GATTTCTGGACCTAAGTGGGC 0.542000 29 37 1.16021e-09 2.23683e-09 0.001271 1 0 SYTL2 54843 broad.mit.edu 37 11 85420476 85420476 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:85420476T>A ENST00000359152.5 - 6 4435 c.4436A>T c.(4435-4437)cAg>cTg p.Q1479L SYTL2_ENST00000389960.4_Missense_Mutation_p.Q609L|SYTL2_ENST00000533892.1_Missense_Mutation_p.Q35L|SYTL2_ENST00000529581.1_Missense_Mutation_p.Q75L|SYTL2_ENST00000525423.1_Missense_Mutation_p.Q955L|SYTL2_ENST00000528231.1_Missense_Mutation_p.Q633L|SYTL2_ENST00000527523.1_Missense_Mutation_p.Q601L|SYTL2_ENST00000524452.1_Missense_Mutation_p.Q609L|SYTL2_ENST00000354566.3_Missense_Mutation_p.Q971L|SYTL2_ENST00000525702.1_Missense_Mutation_p.Q75L|SYTL2_ENST00000316356.4_Missense_Mutation_p.Q634L|SYTL2_ENST00000389958.3_Missense_Mutation_p.Q64L NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 633 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) AATTGCAAACTGAATATTTCC 0.413000 25 65 0 0 0.002780 0 0 PXDN 7837 broad.mit.edu 37 2 1680770 1680770 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1680770C>T ENST00000252804.4 - 8 827 c.777G>A c.(775-777)tcG>tcA p.S259S NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 259 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGGTGTTCCCCGAGGTCACAT 0.532000 6 14 0 0 0.001984 0 0 VWA3A 146177 broad.mit.edu 37 16 22126703 22126703 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:22126703A>G ENST00000389398.5 + 9 821 c.725A>G c.(724-726)cAg>cGg p.Q242R VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 242 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) AAGACGCTGCAGCCTGATGGA 0.463000 3 17 0 0 0.004672 0 0 KMT2D 8085 broad.mit.edu 37 12 49438025 49438025 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:49438025C>A ENST00000301067.7 - 21 5145 c.5146G>T c.(5146-5148)Gca>Tca p.A1716S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCCGCCTGTGCAGCAGGCCCC 0.617000 OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 24 7.48243e-07 1.33843e-06 0.000443 1 0 HAVCR1 26762 broad.mit.edu 37 5 156479381 156479381 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:156479381G>T ENST00000339252.3 - 3 1196 c.664C>A c.(664-666)Cat>Aat p.H222N HAVCR1_ENST00000544197.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000522693.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000523175.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.H222N NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 217 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGGTTCATGGTTCTGCCTG 0.488000 50 138 4.18559e-23 1.02445e-22 0.003610 1 0 CACNB2 783 broad.mit.edu 37 10 18690910 18690910 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:18690910G>T ENST00000396576.2 + 2 607 c.106G>T c.(106-108)Gac>Tac p.D36Y CACNB2_ENST00000377328.1_Missense_Mutation_p.D91Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.D37Y|CACNB2_ENST00000377331.2_Missense_Mutation_p.D63Y|CACNB2_ENST00000352115.6_Missense_Mutation_p.D91Y|CACNB2_ENST00000324631.7_Missense_Mutation_p.D91Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.D43Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.D36Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.D63Y NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 91 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTGGAGGAGGACCGGGAGGC 0.507000 11 56 2.80697e-09 5.32476e-09 0.000978 1 0 PEX1 5189 broad.mit.edu 37 7 92134134 92134134 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:92134134C>A ENST00000248633.4 - 12 2078 c.1983G>T c.(1981-1983)ctG>ctT p.L661L PEX1_ENST00000438045.1_Silent_p.L339L|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Silent_p.L78L NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 661 Missing (in NALD). microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CAAGGTCATCCAGCAGGACAA 0.502000 30 84 3.57733e-08 6.62334e-08 0.001786 1 0 LRRK2 120892 broad.mit.edu 37 12 40651127 40651127 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:40651127C>A ENST00000298910.7 + 12 1424 c.1366C>A c.(1366-1368)Cct>Act p.P456T LRRK2_ENST00000343742.2_Missense_Mutation_p.P456T NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 456 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TATACATTCTCCTGAAGTGGC 0.313000 30 59 3.73148e-12 7.51161e-12 0.001271 1 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 60 0 0 0.000602 0 0 BTBD11 121551 broad.mit.edu 37 12 108029160 108029160 + Silent SNP G G C rs149726114 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:108029160G>C ENST00000280758.5 + 12 3258 c.2730G>C c.(2728-2730)tcG>tcC p.S910S BTBD11_ENST00000420571.2_Silent_p.S791S|BTBD11_ENST00000357167.4_Silent_p.S447S|BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000490090.2_Silent_p.S910S NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 910 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AACAGACCTCGCGCTTGGGTG 0.552000 22 49 0 0 0.002299 0 0 SART3 9733 broad.mit.edu 37 12 108930562 108930562 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:108930562C>A ENST00000228284.3 - 10 1544 c.e10-1 SART3_ENST00000431469.2_Splice_Site NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 TTACTGGAGTCTAACGGAAAG 0.483000 Porokeratosis 12 22 2.80697e-09 5.32476e-09 0.000978 1 0 UBR4 23352 broad.mit.edu 37 1 19428082 19428082 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:19428082G>T ENST00000375267.2 - 88 12958 c.12955C>A c.(12955-12957)Cgc>Agc p.R4319S UBR4_ENST00000375254.3_Missense_Mutation_p.R4319S|UBR4_ENST00000375226.2_Missense_Mutation_p.R4295S|UBR4_ENST00000375217.2_Missense_Mutation_p.R4312S|UBR4_ENST00000375224.1_Missense_Mutation_p.R26S|UBR4_ENST00000543981.1_Missense_Mutation_p.R10S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4319 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGATTGTAGCGCTTGGCTGTC 0.527000 37 79 2.87052e-16 6.37999e-16 0.005524 1 0 LAMP3 27074 broad.mit.edu 37 3 182841971 182841971 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:182841971C>A ENST00000265598.3 - 6 1404 c.1149G>T c.(1147-1149)gtG>gtT p.V383V LAMP3_ENST00000466939.1_Silent_p.V359V NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 383 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TCACAGGAAGCACAATTGTGT 0.463000 25 100 1.66031e-10 3.25096e-10 0.003954 1 0 SPG11 80208 broad.mit.edu 37 15 44888469 44888469 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:44888469A>G ENST00000261866.7 - 25 4262 c.4246T>C c.(4246-4248)Tcc>Ccc p.S1416P SPG11_ENST00000427534.2_Missense_Mutation_p.S1416P|SPG11_ENST00000558319.1_Missense_Mutation_p.S1416P|SPG11_ENST00000535302.2_Missense_Mutation_p.S1416P NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1416 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCCATTTTGGAGGTGGGCACT 0.463000 3 93 0 0 0.000248 0 0 NME8 51314 broad.mit.edu 37 7 37934211 37934211 + Splice_Site SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:37934211G>C ENST00000199447.4 + 16 1915 c.1544_splice c.e16+1 p.V515_splice NME8_ENST00000440017.1_Splice_Site_p.V515_splice|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 515 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity AATGTTATCTGTGTAAGTTTC 0.254000 5 13 0 0 0.000602 0 0 RINT1 60561 broad.mit.edu 37 7 105204333 105204333 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:105204333C>T ENST00000257700.2 + 12 2056 c.1825C>T c.(1825-1827)Cgt>Tgt p.R609C NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 609 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TATGTTGACCCGTCAAGTAGA 0.383000 12 43 0 0 0.000978 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136847 80136847 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:80136847G>T ENST00000466387.1 + 11 1704 c.980G>T c.(979-981)cGg>cTg p.R327L CTNNA2_ENST00000402739.4_Missense_Mutation_p.R327L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R327L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R327L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R361L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R327L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 327 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CGAGACGACCGGCGCGAGAGG 0.637000 33 74 5.8336e-16 1.29228e-15 0.003271 1 0 NGF 4803 broad.mit.edu 37 1 115828838 115828838 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:115828838G>A ENST00000369512.2 - 3 747 c.579C>T c.(577-579)gaC>gaT p.D193D RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 193 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) AGTGCTTTGAGTCAATGCCCC 0.507000 23 50 0 0 0.001882 0 0 MUC16 94025 broad.mit.edu 37 19 9075894 9075894 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9075894T>A ENST00000397910.4 - 3 11755 c.11552A>T c.(11551-11553)cAg>cTg p.Q3851L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3852 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCCTTGTCTCTGAAAAGTTGC 0.502000 34 67 0 0 0.002096 0 0 ABCD4 5826 broad.mit.edu 37 14 74759551 74759551 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:74759551T>C ENST00000356924.4 - 9 979 c.836A>G c.(835-837)tAt>tGt p.Y279C AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.Y175C|ABCD4_ENST00000557588.1_3'UTR|ABCD4_ENST00000557554.1_Intron NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 279 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) GCTGCCCAGATAGTCAAAGGT 0.537000 22 47 0 0 0.003330 0 0 RBMY2EP 159125 broad.mit.edu 37 Y 23557115 23557115 + RNA SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:23557115G>T ENST00000444169.1 - 0 452 NR_001574.2 TTATAATCAGGGTGGCTGCTT 0.453000 22 7 1.10923e-09 2.1406e-09 0.002780 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184929 130184929 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:130184929G>T ENST00000422113.2 - 2 720 c.394C>A c.(394-396)Cac>Aac p.H132N NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 132 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CGCAGGATGTGGGCTTTTAGT 0.527000 14 30 1.3612e-06 2.40699e-06 0.003163 1 0 SERAC1 84947 broad.mit.edu 37 6 158569896 158569896 + Splice_Site SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:158569896C>G ENST00000367102.2 - 5 497 c.e5+1 SERAC1_ENST00000607000.1_Splice_Site|SERAC1_ENST00000367104.3_Splice_Site|SERAC1_ENST00000367101.1_Splice_Site Q96JX3 SRAC1_HUMAN serine active site containing 1 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) TGGATATTTACCAGCAAATGG 0.338000 9 29 0 0 0.000443 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167951 140167951 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140167951G>A ENST00000504120.2 + 1 2076 c.2076G>A c.(2074-2076)gcG>gcA p.A692A PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.A692A NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAGGCGGCGCTGGTGGATG 0.662000 24 67 0 0 0.003330 0 0 WNK2 65268 broad.mit.edu 37 9 96025977 96025977 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:96025977G>T ENST00000297954.4 + 14 3540 c.3540G>T c.(3538-3540)cgG>cgT p.R1180R WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.R1180R|WNK2_ENST00000349097.3_Silent_p.R792R|WNK2_ENST00000427277.2_Silent_p.R792R|WNK2_ENST00000395475.2_3'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1180 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CGCGCTCCCGGCAGGAGAGGG 0.706000 6 9 5.9392e-07 1.06523e-06 0.001168 1 0 KHDRBS2 202559 broad.mit.edu 37 6 62390894 62390894 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:62390894T>C ENST00000281156.4 - 9 1302 c.1024A>G c.(1024-1026)Agg>Ggg p.R342G RP1-240B8.3_ENST00000511849.2_RNA NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GGGTGTTCCCTGTATCCCCCT 0.498000 17 32 0 0 0.000958 0 0 AVPR1A 552 broad.mit.edu 37 12 63543951 63543951 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:63543951G>T ENST00000299178.2 - 1 771 c.666C>A c.(664-666)ggC>ggA p.G222G NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 222 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CAAAGATGCCGCCCGTCATCC 0.612000 34 93 3.90053e-15 8.46309e-15 0.002445 1 0 HERPUD2 64224 broad.mit.edu 37 7 35673920 35673920 + Splice_Site SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:35673920A>G ENST00000396081.1 - 7 1864 c.e7+1 HERPUD2_ENST00000311350.3_Splice_Site NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 TCAATCACATACCATTTCTTC 0.393000 12 34 0 0 0.001855 0 0 LAMC3 10319 broad.mit.edu 37 9 133946978 133946978 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:133946978G>A ENST00000361069.4 + 18 3310 c.3177G>A c.(3175-3177)agG>agA p.R1059R LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1059 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGGCCCCAAGGGGGGACGTCT 0.657000 26 38 0 0 0.003330 0 0 MUC16 94025 broad.mit.edu 37 19 9071927 9071927 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9071927A>G ENST00000397910.4 - 3 15722 c.15519T>C c.(15517-15519)ggT>ggC p.G5173G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5175 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCAGAGGAACCATGCACTG 0.498000 70 242 0 0 0.003610 0 0 TDRD5 163589 broad.mit.edu 37 1 179632540 179632540 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:179632540C>T ENST00000444136.1 + 16 2813 c.2563C>T c.(2563-2565)Ctt>Ttt p.L855F TDRD5_ENST00000294848.8_Missense_Mutation_p.L801F|TDRD5_ENST00000367614.1_Missense_Mutation_p.L801F NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 832 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GCCTTCAGGCCTTGTAAATGG 0.398000 16 45 0 0 0.003163 0 0 FAS 355 broad.mit.edu 37 10 90762893 90762893 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:90762893T>A ENST00000355740.2 + 2 358 c.138T>A c.(136-138)acT>acA p.T46T FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Silent_p.T46T|FAS_ENST00000355279.2_Silent_p.T46T|FAS_ENST00000352159.4_Silent_p.T46T NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 46 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) CAGTTGAGACTCAGAACTTGG 0.443000 27 64 0 0 0.005443 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101627047 101627047 + Splice_Site SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:101627047C>T ENST00000310954.6 - 2 905 c.619_splice c.e2+1 p.D207_splice NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 207 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AGAAACTTACCTTCAAAAAGA 0.348000 17 45 0 0 0.004990 0 0 NETO1 81832 broad.mit.edu 37 18 70417315 70417315 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:70417315T>A ENST00000327305.6 - 9 2180 c.1523A>T c.(1522-1524)cAc>cTc p.H508L NETO1_ENST00000299430.2_Missense_Mutation_p.H507L|NETO1_ENST00000583169.1_Missense_Mutation_p.H508L NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 508 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GGCTTTATCGTGTCTGGACAG 0.438000 26 25 0 0 0.005443 0 0 NKAPL 222698 broad.mit.edu 37 6 28228212 28228212 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:28228212C>T ENST00000343684.3 + 1 1115 c.1063C>T c.(1063-1065)Cgt>Tgt p.R355C NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 355 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 TGTACGACTGCGTAAGGAGAA 0.443000 27 174 0 0 0.004656 0 0 RGS9 8787 broad.mit.edu 37 17 63206682 63206682 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:63206682G>T ENST00000449996.3 + 17 1429 c.1357G>T c.(1357-1359)Gcc>Tcc p.A453S RGS9_ENST00000262406.9_Missense_Mutation_p.A456S|RGS9_ENST00000443584.3_Missense_Mutation_p.A453S NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 456 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GGAAGAGGAAGCCAAGGCCCG 0.567000 28 69 1.5548e-18 3.57444e-18 0.005443 1 0 ZNF789 285989 broad.mit.edu 37 7 99084446 99084446 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:99084446G>C ENST00000331410.5 + 5 883 c.613G>C c.(613-615)Gaa>Caa p.E205Q ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGAATGCAGTGAATGTGGAAA 0.418000 34 55 0 0 0.003271 0 0 FAM83F 113828 broad.mit.edu 37 22 40417675 40417675 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:40417675C>T ENST00000333407.5 + 4 1255 c.1161C>T c.(1159-1161)ccC>ccT p.P387P FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 387 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGCTGCCCCCCGTGGAGCCCA 0.662000 13 48 0 0 0.003163 0 0 CEP104 9731 broad.mit.edu 37 1 3754057 3754057 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:3754057G>C ENST00000378230.3 - 9 1242 c.918C>G c.(916-918)ctC>ctG p.L306L NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 306 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 CGAGGGGCTGGAGGGGCAAAT 0.458000 22 27 0 0 0.002780 0 0 PCSK2 5126 broad.mit.edu 37 20 17446125 17446125 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:17446125G>A ENST00000262545.2 + 11 1672 c.1357G>A c.(1357-1359)Gtg>Atg p.V453M PCSK2_ENST00000377899.1_Missense_Mutation_p.V434M|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.V418M NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 453 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGTGCCATGGTGAAAATGGC 0.567000 10 20 0 0 0.000443 0 0 RET 5979 broad.mit.edu 37 10 43595965 43595965 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:43595965G>T ENST00000355710.3 + 2 364 c.132G>T c.(130-132)caG>caT p.Q44H RET_ENST00000340058.5_Missense_Mutation_p.Q44H NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 44 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) ATGTGGACCAGGCAGCCGGCA 0.612000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 19 41 7.21436e-19 1.67778e-18 0.001216 1 0 CCT8L2 150160 broad.mit.edu 37 22 17072618 17072618 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:17072618C>G ENST00000359963.3 - 1 1082 c.823G>C c.(823-825)Gat>Cat p.D275H NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 275 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGTAATTGATCGCTTCCTTTA 0.527000 49 141 0 0 0.003610 0 0 KCNV1 27012 broad.mit.edu 37 8 110980754 110980754 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:110980754C>A ENST00000524391.1 - 4 2098 c.1066G>T c.(1066-1068)Gga>Tga p.G356* KCNV1_ENST00000297404.1_Nonsense_Mutation_p.G356* Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 356 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ATAGAGATTCCCACGGATAGA 0.478000 35 53 2.80507e-11 5.5962e-11 0.002445 1 0 RXRG 6258 broad.mit.edu 37 1 165377464 165377464 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:165377464C>A ENST00000359842.5 - 8 1440 c.1138_splice c.e8+1 p.D380_splice NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 380 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GGGCGGTTACCTGGGTTAAAG 0.512000 34 66 2.05212e-20 4.86832e-20 0.005524 1 0 AHNAK 79026 broad.mit.edu 37 11 62298691 62298691 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:62298691C>G ENST00000378024.4 - 5 3472 c.3198G>C c.(3196-3198)aaG>aaC p.K1066N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1066 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GCAAAGACATCTTAGGAGCTC 0.443000 23 106 0 0 0.001882 0 0 NAV2 89797 broad.mit.edu 37 11 20065574 20065574 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:20065574T>C ENST00000396085.1 + 13 3316 c.2955T>C c.(2953-2955)tcT>tcC p.S985S NAV2_ENST00000540292.1_Silent_p.S939S|NAV2_ENST00000533917.1_Silent_p.S71S|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Silent_p.S71S|NAV2_ENST00000396087.3_Silent_p.S1008S|NAV2_ENST00000360655.4_Silent_p.S921S|NAV2_ENST00000349880.4_Silent_p.S985S|NAV2_ENST00000527559.2_Silent_p.S937S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1008 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CCCTGTGGTCTGGTGATGATG 0.527000 24 64 0 0 0.003954 0 0 FAM134C 162427 broad.mit.edu 37 17 40734205 40734205 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:40734205G>C ENST00000309428.5 - 9 1086 c.1027C>G c.(1027-1029)Ctg>Gtg p.L343V FAM134C_ENST00000585894.1_Missense_Mutation_p.L246V|FAM134C_ENST00000543197.1_Missense_Mutation_p.L148V NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 343 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) TCATCATCCAGGCCAGCAGGA 0.567000 39 90 0 0 0.004878 0 0 USP15 9958 broad.mit.edu 37 12 62715352 62715352 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:62715352G>T ENST00000280377.5 + 5 641 c.583G>T c.(583-585)Gac>Tac p.D195Y USP15_ENST00000353364.3_Missense_Mutation_p.D195Y|USP15_ENST00000393654.3_Missense_Mutation_p.D195Y|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.D195Y NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 195 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GAATAAACCAGACAGCACCAT 0.333000 7 29 0.000274275 0.000453435 0.004482 1 0 PCDH17 27253 broad.mit.edu 37 13 58208274 58208274 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:58208274G>T ENST00000377918.3 + 1 1620 c.1594G>T c.(1594-1596)Ggg>Tgg p.G532W NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 532 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCCCACGAACGGGGCCATCTA 0.587000 13 17 0.000151284 0.000252392 0.001855 1 0 TMEM8A 58986 broad.mit.edu 37 16 422106 422106 + Missense_Mutation SNP C C G rs150493488 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:422106C>G ENST00000431232.2 - 13 2357 c.2197G>C c.(2197-2199)Gca>Cca p.A733P TMEM8A_ENST00000250930.3_Missense_Mutation_p.A540P NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 733 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 AGCAAGGCTGCGCTCCCGGCC 0.607000 55 62 0 0 0.003610 0 0 HYAL4 23553 broad.mit.edu 37 7 123508735 123508735 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:123508735A>G ENST00000223026.4 + 3 1046 c.408A>G c.(406-408)gaA>gaG p.E136E HYAL4_ENST00000476325.1_Silent_p.E136E NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 136 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TCCCTGCTGAAGATTTCAGTG 0.428000 19 63 0 0 0.001216 0 0 SYTL2 54843 broad.mit.edu 37 11 85436429 85436429 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:85436429C>A ENST00000359152.5 - 1 2642 c.2643G>T c.(2641-2643)gtG>gtT p.V881V SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Silent_p.V357V|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Silent_p.V357V|SYTL2_ENST00000316356.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GAGGGCTGGCCACATCCCCAA 0.493000 14 36 9.31168e-06 1.61108e-05 0.001855 1 0 C9 735 broad.mit.edu 37 5 39289035 39289035 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:39289035G>C ENST00000263408.4 - 10 1530 c.1435C>G c.(1435-1437)Ctg>Gtg p.L479V NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 479 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ACTGGAACCAGATTATATATA 0.313000 20 40 0 0 0.001523 0 0 MAP3K19 80122 broad.mit.edu 37 2 135740765 135740765 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:135740765A>T ENST00000392915.1 - 9 3529 c.3410T>A c.(3409-3411)gTg>gAg p.V1137E MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000315513.3_5'UTR mitogen-activated protein kinase kinase kinase 19 ttcatcgcccaccccCCAAGA 0.378000 36 37 0 0 0.003755 0 0 ESYT3 83850 broad.mit.edu 37 3 138174129 138174129 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:138174129C>A ENST00000389567.4 + 3 649 c.463C>A c.(463-465)Ctg>Atg p.L155M ESYT3_ENST00000289135.4_Missense_Mutation_p.L155M NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 155 integral to membrane|plasma membrane p.L155L(1) breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GAGCATCCACCTGAGGACCTT 0.522000 19 105 1.15919e-05 1.99698e-05 0.001216 1 0 BRINP1 1620 broad.mit.edu 37 9 122075568 122075568 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:122075568G>A ENST00000265922.3 - 2 527 c.66C>T c.(64-66)ccC>ccT p.P22P DBC1_ENST00000373964.2_Silent_p.P22P NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 22 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CCTGGTGGGAGGGCTGCACTG 0.512000 43 54 0 0 0.003610 0 0 KDM4B 23030 broad.mit.edu 37 19 5082396 5082396 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:5082396G>T ENST00000159111.4 + 9 1017 c.799G>T c.(799-801)Gaa>Taa p.E267* KDM4B_ENST00000536461.1_Nonsense_Mutation_p.E267*|KDM4B_ENST00000381759.4_Nonsense_Mutation_p.E267*|KDM4B_ENST00000592175.1_3'UTR NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 267 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GGAGGCCGGGGAATTCATGAT 0.597000 11 23 9.70103e-10 1.87572e-09 0.000673 1 0 OR1S2 219958 broad.mit.edu 37 11 57970690 57970690 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:57970690T>C ENST00000302592.6 - 1 963 c.964A>G c.(964-966)Att>Gtt p.I322V NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 322 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AGGGAAGAAATTTTTCTATTG 0.418000 55 97 0 0 0.003610 0 0 DNAH2 146754 broad.mit.edu 37 17 7689567 7689567 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:7689567C>T ENST00000572933.1 + 40 7715 c.6255C>T c.(6253-6255)tgC>tgT p.C2085C DNAH2_ENST00000389173.2_Silent_p.C2085C Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2085 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCGTGGGCTGCACGGGCAGCG 0.577000 19 54 0 0 0.005443 0 0 SGCZ 137868 broad.mit.edu 37 8 13959967 13959967 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:13959967C>A ENST00000382080.1 - 7 1377 c.662G>T c.(661-663)cGt>cTt p.R221L SGCZ_ENST00000421524.2_Missense_Mutation_p.R174L NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 208 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGGACCCCACGGGGAGCTTC 0.458000 16 44 2.31682e-05 3.9439e-05 0.003163 1 0 CEP350 9857 broad.mit.edu 37 1 180061771 180061771 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:180061771G>C ENST00000367607.3 + 34 6949 c.6531G>C c.(6529-6531)gaG>gaC p.E2177D CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2177 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CTGGTTCTGAGAGATCAGTAT 0.348000 8 16 0 0 0.003080 0 0 CPT1A 1374 broad.mit.edu 37 11 68571469 68571469 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:68571469C>A ENST00000265641.5 - 5 708 c.555_splice c.e5+1 p.R185_splice CPT1A_ENST00000539743.1_Splice_Site_p.R185_splice|CPT1A_ENST00000540367.1_Splice_Site_p.R185_splice|CPT1A_ENST00000376618.2_Splice_Site_p.R185_splice NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 185 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CACACCTACCCTGTTCACAGT 0.512000 21 44 3.8784e-16 8.61057e-16 0.001882 1 0 WBSCR17 64409 broad.mit.edu 37 7 71036356 71036356 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:71036356A>G ENST00000333538.5 + 6 1683 c.1049A>G c.(1048-1050)tAc>tGc p.Y350C WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 350 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ATGGATGTATACGGAGGAGAA 0.512000 29 76 0 0 0.002445 0 0 ACO2 50 broad.mit.edu 37 22 41918884 41918884 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:41918884G>T ENST00000396512.3 + 10 1281 c.1264G>T c.(1264-1266)Gca>Tca p.A422S ACO2_ENST00000216254.4_Missense_Mutation_p.A397S Q99798 ACON_HUMAN aconitase 2, mitochondrial 397 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 GGGGCGCTCAGCAGCTGTGGC 0.572000 22 49 5.26018e-13 1.08057e-12 0.001882 1 0 VCP 7415 broad.mit.edu 37 9 35061050 35061050 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35061050C>A ENST00000358901.6 - 11 2216 c.1321G>T c.(1321-1323)Gtc>Ttc p.V441F NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 441 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GAGTTCATGACCTCGGCATCA 0.527000 54 181 1.54886e-18 3.57306e-18 0.003610 1 0 RPL23 9349 broad.mit.edu 37 17 37009953 37009953 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:37009953C>G ENST00000479035.2 - 1 143 c.11G>C c.(10-12)cGa>cCa p.R4P RPL23_ENST00000394332.1_Missense_Mutation_p.R4P|RPL23_ENST00000394333.1_Missense_Mutation_p.R4P|RPL23_ENST00000577407.1_Missense_Mutation_p.R4P NM_000978.3 NP_000969.1 P62829 RL23_HUMAN ribosomal protein L23 4 endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome endometrium(2)|large_intestine(1) 3 AACCTCACCTCGCTTCGACAT 0.562000 5 26 0 0 0.001984 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167848 140167848 + Missense_Mutation SNP C C G rs149133665 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140167848C>G ENST00000504120.2 + 1 1973 c.1973C>G c.(1972-1974)gCg>gGg p.A658G PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A658G NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGAGCCGGCGCTGACAGCC 0.667000 19 81 0 0 0.000958 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255711 85255711 + Silent SNP G G T rs149254147 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:85255711G>T ENST00000266682.5 - 12 2434 c.1893C>A c.(1891-1893)ctC>ctA p.L631L SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Silent_p.L524L NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 631 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 CAGGGACTGGGAGTATTGCAA 0.393000 19 88 3.57192e-18 8.15569e-18 0.006122 1 0 FRMPD2 143162 broad.mit.edu 37 10 49431169 49431169 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:49431169A>T ENST00000374201.3 - 11 1615 c.1313T>A c.(1312-1314)cTc>cAc p.L438H FRMPD2_ENST00000305531.3_Missense_Mutation_p.L414H|FRMPD2_ENST00000407470.4_Missense_Mutation_p.L407H NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 438 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CACTCACTGGAGCAGCCCATA 0.473000 30 59 0 0 0.001512 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088571 65088571 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:65088571A>G ENST00000544348.1 + 2 808 c.202A>G c.(202-204)Acc>Gcc p.T68A CDC42EP2_ENST00000279249.2_Missense_Mutation_p.T68A|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.T68A O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 68 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 CCTGCCGGGGACCATGGTGGA 0.647000 24 54 0 0 0.003954 0 0 TINAG 27283 broad.mit.edu 37 6 54173485 54173485 + Missense_Mutation SNP G G T rs147898099 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:54173485G>T ENST00000259782.4 + 1 233 c.137G>T c.(136-138)cGa>cTa p.R46L TINAG_ENST00000370864.3_Missense_Mutation_p.R28L|TINAG_ENST00000370869.3_Missense_Mutation_p.R42L|TINAG_ENST00000486436.1_3'UTR NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 46 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CAAGGTACTCGATTCAAAAGA 0.428000 33 165 1.45844e-13 3.03954e-13 0.002836 1 0 ROBO2 6092 broad.mit.edu 37 3 75986715 75986715 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:75986715T>C ENST00000487694.3 + 2 350 c.71T>C c.(70-72)gTg>gCg p.V24A NM_001128929.2 NP_001122401.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 0 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATGATGACTGTGGTGTTTTGG 0.453000 4 14 0 0 0.000248 0 0 MYH2 4620 broad.mit.edu 37 17 10428788 10428788 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10428788C>T ENST00000245503.5 - 32 4901 c.4517G>A c.(4516-4518)cGa>cAa p.R1506Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1506Q NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1506 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1506Q(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTTGTTCTCTCGCTTCAGGGT 0.428000 27 74 0 0 0.005443 0 0 TTN 7273 broad.mit.edu 37 2 179457788 179457788 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:179457788A>T ENST00000589042.1 - 300 59282 c.59058T>A c.(59056-59058)aaT>aaA p.N19686K TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N10813K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N10746K|TTN_ENST00000591111.1_Missense_Mutation_p.N18045K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N10621K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N17118K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18045 Fibronectin type-III 42. 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) TTGCTTCAGGATTAACAGGTG 0.358000 45 52 0 0 0.002222 0 0 NUP214 8021 broad.mit.edu 37 9 134021593 134021593 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:134021593C>A ENST00000359428.5 + 13 1991 c.1847C>A c.(1846-1848)tCc>tAc p.S616Y RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S605Y|NUP214_ENST00000451030.1_Missense_Mutation_p.S616Y|RP11-544A12.4_ENST00000590461.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 616 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCTTCTGCCTCCAAGCCAGCT 0.567000 T """DEK, SET, ABL1""" """AML, T-ALL""" 231 318 1.95565e-89 5.09739e-89 0.003610 1 0 TCAIM 285343 broad.mit.edu 37 3 44441904 44441904 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:44441904G>T ENST00000342649.4 + 9 1370 c.943G>T c.(943-945)Gac>Tac p.D315Y TCAIM_ENST00000417237.1_Missense_Mutation_p.D315Y NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial GATTTTAGAAGACCAAATAAG 0.318000 11 25 1.58986e-06 2.799e-06 0.000673 1 0 DNAI2 64446 broad.mit.edu 37 17 72301505 72301505 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:72301505A>T ENST00000579490.1 + 8 1441 c.1306A>T c.(1306-1308)Aac>Tac p.N436Y DNAI2_ENST00000582036.1_Missense_Mutation_p.N379Y|DNAI2_ENST00000307504.5_Missense_Mutation_p.N236Y|DNAI2_ENST00000311014.6_Missense_Mutation_p.N379Y|DNAI2_ENST00000446837.2_Missense_Mutation_p.N379Y Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 379 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTACCCGAAGAACTTCCTGAC 0.577000 Kartagener syndrome 34 36 0 0 0.002096 0 0 TMBIM4 51643 broad.mit.edu 37 12 66531826 66531826 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:66531826C>T ENST00000358230.3 - 7 751 c.631G>A c.(631-633)Gta>Ata p.V211I TMBIM4_ENST00000544599.1_Missense_Mutation_p.V34I|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000542724.1_Missense_Mutation_p.V180I|TMBIM4_ENST00000286424.7_Missense_Mutation_p.V258I|TMBIM4_ENST00000398033.4_3'UTR NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 211 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) GCAGCTAATACGTACTCTTCA 0.413000 22 47 0 0 0.003330 0 0 POLE 5426 broad.mit.edu 37 12 133234500 133234500 + Missense_Mutation SNP C C T rs114315196 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133234500C>T ENST00000320574.5 - 27 3375 c.3332G>A c.(3331-3333)cGg>cAg p.R1111Q POLE_ENST00000535270.1_Missense_Mutation_p.R1084Q NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1111 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GAGCCATTTCCGGAGAAAGTG 0.483000 DNA polymerases (catalytic subunits) 34 84 0 0 0.004878 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407063 148407063 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:148407063C>A ENST00000538184.1 - 7 1761 c.873G>T c.(871-873)ctG>ctT p.L291L SH3TC2_ENST00000394358.2_Silent_p.L629L|SH3TC2_ENST00000515425.1_Silent_p.L744L|SH3TC2_ENST00000512049.1_Silent_p.L737L Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 744 SH3. binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGGCAGCCAGGGCCTGTC 0.592000 21 40 3.51602e-12 7.08498e-12 0.001216 1 0 OR11H6 122748 broad.mit.edu 37 14 20692320 20692320 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20692320C>A ENST00000315519.2 + 1 530 c.452C>A c.(451-453)cCc>cAc p.P151H NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TTACACTACCCCTCCATCATG 0.423000 40 77 5.71845e-15 1.23541e-14 0.005524 1 0 SPRY4 81848 broad.mit.edu 37 5 141693814 141693814 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:141693814C>A ENST00000344120.4 - 3 1115 c.929G>T c.(928-930)aGc>aTc p.S310I SPRY4_ENST00000434127.2_Missense_Mutation_p.S287I NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 287 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCATCCCCGCTGGCTGCTTT 0.617000 Testicular Cancer, Familial Clustering of 12 33 0.00136819 0.0022416 0.001368 1 0 OR2G3 81469 broad.mit.edu 37 1 247769112 247769112 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247769112T>C ENST00000320002.2 + 1 257 c.225T>C c.(223-225)acT>acC p.T75T RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GCTTCACTACTAGCCTTGCTC 0.448000 178 207 0 0 0.003610 0 0 LRRC7 57554 broad.mit.edu 37 1 70493932 70493932 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:70493932G>A ENST00000310961.5 + 19 2192 c.1774G>A c.(1774-1776)Gtg>Atg p.V592M RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.V587M|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 587 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TCAAAATTTGGTGGGTAAGCC 0.378000 17 54 0 0 0.004007 0 0 CD93 22918 broad.mit.edu 37 20 23064994 23064994 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23064994C>G ENST00000246006.4 - 1 1983 c.1836G>C c.(1834-1836)aaG>aaC p.K612N NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 612 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCTCCTCCCTCTTCGCTCTCC 0.567000 52 149 0 0 0.003610 0 0 EIF4EBP1 1978 broad.mit.edu 37 8 37914654 37914654 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:37914654G>T ENST00000338825.4 + 2 434 c.201G>T c.(199-201)gtG>gtT p.V67V EIF4EBP1_ENST00000520657.1_3'UTR NM_004095.3 NP_004086.1 Q13541 4EBP1_HUMAN eukaryotic translation initiation factor 4E binding protein 1 67 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation cytosol p.V67V(1) endometrium(1)|lung(1)|ovary(1)|urinary_tract(1) 4 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) ACTCACCTGTGACCAAAACAC 0.572000 21 81 2.70639e-06 4.74802e-06 0.002299 1 0 MYH2 4620 broad.mit.edu 37 17 10424725 10424725 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10424725C>T ENST00000245503.5 - 40 6082 c.5698G>A c.(5698-5700)Gct>Act p.A1900T CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.A667T|MYH2_ENST00000397183.2_Missense_Mutation_p.A1900T NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1900 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGGAATTTAGCTAGATTGGTG 0.473000 44 118 0 0 0.003610 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603614 101603614 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:101603614G>T ENST00000536262.2 - 1 571 c.13C>A c.(13-15)Cgg>Agg p.R5R NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 5 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCGATGCCCCGTGGCGTGTCC 0.706000 7 13 0.000157383 0.000261914 0.003080 1 0 PPP1R3F 89801 broad.mit.edu 37 X 49142667 49142667 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:49142667G>A ENST00000055335.6 + 4 1531 c.1515G>A c.(1513-1515)gcG>gcA p.A505A PPP1R3F_ENST00000466508.1_Silent_p.A159A|PPP1R3F_ENST00000495799.1_Silent_p.A159A|PPP1R3F_ENST00000376188.1_Silent_p.A159A|PPP1R3F_ENST00000438316.1_Silent_p.A176A NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 505 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CTGTGGCTGCGGGTGGGGCAG 0.657000 8 2 0 0 0.003080 0 0 UXS1 80146 broad.mit.edu 37 2 106739524 106739524 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:106739524C>T ENST00000283148.7 - 9 758 c.661G>A c.(661-663)Gag>Aag p.E221K UXS1_ENST00000540130.1_Missense_Mutation_p.E159K|UXS1_ENST00000428048.2_Missense_Mutation_p.E60K|UXS1_ENST00000409501.3_Missense_Mutation_p.E216K|UXS1_ENST00000409032.1_Missense_Mutation_p.E48K NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 216 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 CAGTAATCCTCACTTTGAGGG 0.453000 25 62 0 0 0.001061 0 0 CCDC47 57003 broad.mit.edu 37 17 61833679 61833679 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:61833679C>A ENST00000225726.5 - 8 1251 c.869G>T c.(868-870)gGa>gTa p.G290V CCDC47_ENST00000582252.1_Missense_Mutation_p.G290V|CCDC47_ENST00000403162.3_Missense_Mutation_p.G290V NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 290 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 ATACTTTGCTCCAGACTTAGG 0.408000 21 49 2.37509e-13 4.91931e-13 0.001523 1 0 NSD1 64324 broad.mit.edu 37 5 176709538 176709538 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:176709538C>T ENST00000439151.2 + 19 6010 c.5965C>T c.(5965-5967)Caa>Taa p.Q1989* NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q1720*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q1720*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q1886* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1989 SET. RYAQEH -> KHAHEN (in Ref. 3; AAK92049). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCGCTATGCTCAAGAACATGA 0.368000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 24 95 0 0 0.003954 0 0 HIPK4 147746 broad.mit.edu 37 19 40886623 40886623 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:40886623G>T ENST00000291823.2 - 3 1559 c.1275C>A c.(1273-1275)gcC>gcA p.A425A NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 425 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GCTGGTCGATGGCTCTTTGCA 0.617000 41 79 9.85521e-28 2.45098e-27 0.001287 1 0 LMLN 89782 broad.mit.edu 37 3 197746225 197746225 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:197746225A>T ENST00000330198.4 + 12 1356 c.1334A>T c.(1333-1335)aAg>aTg p.K445M LMLN_ENST00000482695.1_Missense_Mutation_p.K430M|LMLN_ENST00000420910.2_Missense_Mutation_p.K482M|LMLN_ENST00000332636.5_Missense_Mutation_p.K393M NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 445 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) AATTTGCAGAAGTTCCCTAAG 0.468000 16 67 0 0 0.004007 0 0 SEC14L1 6397 broad.mit.edu 37 17 75212635 75212635 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:75212635C>T ENST00000392476.2 + 20 2708 c.2149C>T c.(2149-2151)Cga>Tga p.R717* SEC14L1_ENST00000413679.2_3'UTR|SEC14L1_ENST00000430767.4_3'UTR|SEC14L1_ENST00000436233.4_3'UTR|SEC14L1_ENST00000443798.4_Nonsense_Mutation_p.R717* NM_001204408.1 NP_001191337.1 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 0 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TCTCAGATGGCGATTTTGCTG 0.512000 84 223 0 0 0.003610 0 0 SLA 6503 broad.mit.edu 37 8 134050883 134050883 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:134050883C>A ENST00000338087.5 - 9 1536 c.717G>T c.(715-717)ctG>ctT p.L239L TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Silent_p.L256L|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Silent_p.L131L|SLA_ENST00000427060.2_Silent_p.L279L|SLA_ENST00000517648.1_Silent_p.L212L NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 239 SLA C-terminal. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) CCTCACTGGTCAGGGACAGGT 0.522000 37 75 8.73648e-17 1.95257e-16 0.004289 1 0 SYNE1 23345 broad.mit.edu 37 6 152725381 152725381 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:152725381T>G ENST00000367255.5 - 46 7393 c.6792A>C c.(6790-6792)ttA>ttC p.L2264F SYNE1_ENST00000448038.1_Missense_Mutation_p.L2271F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2264F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2271F|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2301F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2264 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GATTTTTAGTTAATTCTTTCA 0.328000 HNSCC(10;0.0054) 40 63 0 0 0.002522 0 0 LEF1 51176 broad.mit.edu 37 4 109088901 109088901 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:109088901C>T ENST00000379951.2 - 1 1211 c.23G>A c.(22-24)gGt>gAt p.G8D LEF1_ENST00000265165.1_Missense_Mutation_p.G8D|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Missense_Mutation_p.G8D NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 8 CTNNB1-binding (By similarity).|Poly-Gly. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) GCCGCCGCCACCTCCTCCGGA 0.642000 33 83 0 0 0.002836 0 0 ZNF625 90589 broad.mit.edu 37 19 12256682 12256682 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:12256682T>A ENST00000355738.1 - 4 700 c.351A>T c.(349-351)atA>atT p.I117I ZNF625_ENST00000542938.1_Silent_p.I117I|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Silent_p.I183I|ZNF625-ZNF20_ENST00000430024.1_Intron Q96I27 ZN625_HUMAN zinc finger protein 625 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2) 14 CACTGTGCATTATCCTGTGTC 0.433000 32 89 0 0 0.003271 0 0 TAL1 6886 broad.mit.edu 37 1 47689705 47689705 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:47689705G>A ENST00000371883.3 - 3 1094 c.518C>T c.(517-519)cCt>cTt p.P173L TAL1_ENST00000294339.3_Missense_Mutation_p.P171L|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.P171L P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 171 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 ATAGGGGGAAGGTCTCCTCTT 0.572000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 61 52 0 0 0.003610 0 0 CD163 9332 broad.mit.edu 37 12 7653975 7653975 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:7653975C>G ENST00000359156.4 - 3 419 c.217G>C c.(217-219)Gga>Cga p.G73R CD163_ENST00000432237.2_Missense_Mutation_p.G73R|CD163_ENST00000541972.1_Missense_Mutation_p.G61R|CD163_ENST00000396620.3_Missense_Mutation_p.G73R NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 73 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CACACCGTTCCCCACTCCTCC 0.502000 36 95 0 0 0.003755 0 0 BPIFB2 80341 broad.mit.edu 37 20 31601640 31601640 + Silent SNP G G C rs148455522 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:31601640G>C ENST00000170150.3 + 5 528 c.333G>C c.(331-333)acG>acC p.T111T NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 111 extracellular region lipid binding TGGAGCTGACGCTGCCTGTGG 0.617000 10 54 0 0 0.000443 0 0 PINK1 65018 broad.mit.edu 37 1 20977105 20977105 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:20977105T>A ENST00000321556.4 + 8 1761 c.1667T>A c.(1666-1668)aTg>aAg p.M556K PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 556 cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AAAATGAAGATGCTCTTTCTG 0.542000 32 23 0 0 0.002445 0 0 FNDC3B 64778 broad.mit.edu 37 3 172059019 172059019 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:172059019C>T ENST00000336824.4 + 17 2068 c.1969C>T c.(1969-1971)Cag>Tag p.Q657* FNDC3B_ENST00000416957.1_Nonsense_Mutation_p.Q657*|FNDC3B_ENST00000415807.2_Nonsense_Mutation_p.Q657* NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 657 Fibronectin type-III 4. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CGGACACAGCCAGGTTGGTTT 0.443000 160 139 0 0 0.003610 0 0 INPP4B 8821 broad.mit.edu 37 4 142950038 142950038 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:142950038T>C ENST00000513000.1 - 27 3105 c.2672A>G c.(2671-2673)aAg>aGg p.K891R INPP4B_ENST00000308502.4_Missense_Mutation_p.K891R|INPP4B_ENST00000262992.4_Missense_Mutation_p.K891R|INPP4B_ENST00000508116.1_Missense_Mutation_p.K891R NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 891 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TTTGATATTCTTCAGTACATT 0.393000 11 31 0 0 0.000673 0 0 ZPBP 11055 broad.mit.edu 37 7 50070687 50070687 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:50070687C>A ENST00000046087.2 - 5 776 c.e5+1 ZPBP_ENST00000419417.1_Splice_Site|ZPBP_ENST00000491129.1_Intron NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TATAGACTTACCTGAAAATGC 0.299000 4 52 0.000602214 0.000991505 0.000602 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50186272 50186272 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:50186272A>G ENST00000335999.6 - 12 3950 c.3749T>C c.(3748-3750)aTg>aCg p.M1250T NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1246 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GGGTGGGCACATGAGAGGGTC 0.632000 8 27 0 0 0.003080 0 0 PRKDC 5591 broad.mit.edu 37 8 48746771 48746771 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:48746771T>C ENST00000314191.2 - 60 8191 c.8135A>G c.(8134-8136)gAt>gGt p.D2712G PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.D2712G NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2713 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CACTTTGTTATCCACCTCGTC 0.488000 Non-homologous end-joining 115 238 0 0 0.003610 0 0 KAT6B 23522 broad.mit.edu 37 10 76788996 76788996 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:76788996G>T ENST00000287239.4 + 18 4903 c.4414G>T c.(4414-4416)Gag>Tag p.E1472* KAT6B_ENST00000372725.1_Nonsense_Mutation_p.E1180*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.E1180*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.E1289*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.E1180* NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1472 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CTCGAACCCAGAGGTCTTAAT 0.512000 21 66 1.10513e-12 2.25636e-12 0.002299 1 0 ZEB1 6935 broad.mit.edu 37 10 31815599 31815599 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:31815599G>T ENST00000446923.2 + 9 3125 c.e9-1 ZEB1_ENST00000320985.10_Splice_Site|ZEB1_ENST00000542815.3_Splice_Site|ZEB1_ENST00000560721.2_Splice_Site|ZEB1_ENST00000361642.5_Splice_Site NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TTATTTTGCAGGTAAAAGACC 0.348000 6 19 0.00198382 0.00323176 0.001984 1 0 CHP2 63928 broad.mit.edu 37 16 23768878 23768878 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:23768878A>G ENST00000300113.2 + 7 988 c.565A>G c.(565-567)Aaa>Gaa p.K189E NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 189 calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) CGTTGAGCAAAAAATGAGCAT 0.527000 57 177 0 0 0.003610 0 0 TJP2 9414 broad.mit.edu 37 9 71835869 71835869 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:71835869G>A ENST00000377245.4 + 5 617 c.409G>A c.(409-411)Gac>Aac p.D137N TJP2_ENST00000453658.2_Missense_Mutation_p.D114N|TJP2_ENST00000265384.7_Missense_Mutation_p.D137N|TJP2_ENST00000535702.1_Missense_Mutation_p.D141N|TJP2_ENST00000539225.1_Missense_Mutation_p.D168N|TJP2_ENST00000348208.4_Missense_Mutation_p.D137N NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 137 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GGATCAGGATGACCGGGCTTT 0.612000 7 22 0 0 0.003080 0 0 MYPN 84665 broad.mit.edu 37 10 69961674 69961674 + Silent SNP C C A rs139820597 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:69961674C>A ENST00000358913.5 + 18 4070 c.3582C>A c.(3580-3582)cgC>cgA p.R1194R MYPN_ENST00000540630.1_Silent_p.R1194R|MYPN_ENST00000354393.2_Silent_p.R919R NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1194 Ig-like 5.|Interaction with ACTN. nucleus|sarcomere actin binding p.R1194R(1) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TGGAGTGCCGCGTGATAGGCA 0.547000 34 84 1.56738e-10 3.08102e-10 0.004289 1 0 CSN2 1447 broad.mit.edu 37 4 70823471 70823471 + Missense_Mutation SNP A A T rs139725489 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:70823471A>T ENST00000353151.3 - 5 207 c.196T>A c.(196-198)Tat>Aat p.Y66N NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 66 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 ACGAATGGATAGATCAGAGGC 0.443000 21 56 0 0 0.001882 0 0 CD86 942 broad.mit.edu 37 3 121838297 121838297 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:121838297T>C ENST00000330540.2 + 7 1022 c.906T>C c.(904-906)caT>caC p.H302H CD86_ENST00000264468.5_Silent_p.H89H|CD86_ENST00000493101.1_Silent_p.H190H|CD86_ENST00000469710.1_Silent_p.H220H|CD86_ENST00000393627.2_Silent_p.H296H NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 302 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AAAAAATCCATATACCTGAAA 0.338000 17 57 0 0 0.001216 0 0 SMS 6611 broad.mit.edu 37 X 22010722 22010722 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:22010722G>A ENST00000404933.2 + 10 1205 c.953G>A c.(952-954)tGt>tAt p.C318Y SMS_ENST00000379404.1_Missense_Mutation_p.C265Y|SMS_ENST00000415881.2_Missense_Mutation_p.C222Y NM_004595.4 NP_004586.2 P52788 SPSY_HUMAN spermine synthase 318 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2) 14 Spermine(DB00127) TAGGGGAACTGTGTCAATCTG 0.453000 4 7 0 0 0.000248 0 0 ZNF507 22847 broad.mit.edu 37 19 32844667 32844667 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:32844667G>A ENST00000311921.3 + 2 1123 c.931G>A c.(931-933)Gag>Aag p.E311K ZNF507_ENST00000355898.5_Missense_Mutation_p.E311K|ZNF507_ENST00000544431.1_Missense_Mutation_p.E311K|ZNF507_ENST00000587084.1_3'UTR NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TGCTATTGGAGAGAGTGAACT 0.473000 47 159 0 0 0.003610 0 0 OBSCN 84033 broad.mit.edu 37 1 228481186 228481186 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:228481186G>T ENST00000570156.2 + 46 12361 c.12287G>T c.(12286-12288)gGa>gTa p.G4096V OBSCN_ENST00000366709.4_Missense_Mutation_p.G786V|OBSCN_ENST00000359599.6_Missense_Mutation_p.G2514V|OBSCN_ENST00000366707.4_Missense_Mutation_p.G786V|OBSCN_ENST00000422127.1_Missense_Mutation_p.G3667V|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3667V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3138 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTCAGAGATGGAGACAGACAC 0.642000 25 50 4.87955e-14 1.02762e-13 0.005443 1 0 IGHV3-48 28424 broad.mit.edu 37 14 106994246 106994246 + RNA SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:106994246C>A ENST00000390624.2 - 0 100 ACAAGGAAAACCCAGCACAGC 0.463000 54 156 1.39843e-22 3.40612e-22 0.003610 1 0 VNN2 8875 broad.mit.edu 37 6 133072643 133072643 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:133072643C>G ENST00000326499.6 - 5 965 c.841G>C c.(841-843)Gca>Cca p.A281P VNN2_ENST00000525270.1_Missense_Mutation_p.A228P|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 281 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CCATTTGGTGCATAAATACCA 0.413000 23 45 0 0 0.002299 0 0 NDNF 79625 broad.mit.edu 37 4 121958113 121958113 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:121958113G>C ENST00000379692.4 - 4 1539 c.1013C>G c.(1012-1014)gCc>gGc p.A338G NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 338 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CTTCTGTTTGGCTTCTTCCTT 0.438000 22 71 0 0 0.001882 0 0 NLRC4 58484 broad.mit.edu 37 2 32474682 32474682 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:32474682G>A ENST00000404025.2 - 5 2739 c.2251C>T c.(2251-2253)Ctg>Ttg p.L751L NLRC4_ENST00000360906.5_Silent_p.L751L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L751L Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 751 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ATACCCGGCAGCCGTTGATTC 0.393000 69 184 0 0 0.003610 0 0 INPP4B 8821 broad.mit.edu 37 4 143235901 143235901 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:143235901G>T ENST00000513000.1 - 9 820 c.387C>A c.(385-387)gtC>gtA p.V129V INPP4B_ENST00000509777.1_Silent_p.V129V|INPP4B_ENST00000308502.4_Silent_p.V129V|INPP4B_ENST00000262992.4_Silent_p.V129V|INPP4B_ENST00000508116.1_Silent_p.V129V NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 129 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) GTTCTGGTAGGACACTGGTTC 0.433000 36 99 9.17885e-22 2.21418e-21 0.003271 1 0 TM2D2 83877 broad.mit.edu 37 8 38853858 38853858 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:38853858T>C ENST00000456397.2 - 1 194 c.101A>G c.(100-102)cAc>cGc p.H34R TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000456845.2_Intron NM_078473.2 NP_510882.1 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 34 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) ATTTTGCGAGTGGCTCCGAGA 0.627000 40 82 0 0 0.003214 0 0 MTFR1 9650 broad.mit.edu 37 8 66605983 66605983 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:66605983A>T ENST00000262146.4 + 4 396 c.270A>T c.(268-270)tcA>tcT p.S90S MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.S57S NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 90 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) GAGAGTGTTCAGCAAGACTAA 0.408000 16 25 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9059286 9059286 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9059286G>A ENST00000397910.4 - 3 28363 c.28160C>T c.(28159-28161)tCa>tTa p.S9387L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9389 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCTGTGCTTGATGAGTCCAA 0.527000 35 103 0 0 0.002836 0 0 OR4M1 441670 broad.mit.edu 37 14 20248683 20248683 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20248683C>A ENST00000315957.4 + 1 283 c.202C>A c.(202-204)Ctc>Atc p.L68I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAATCTGGCCCTCCTTGATAT 0.423000 66 532 3.07281e-33 7.79663e-33 0.003610 1 0 SDK1 221935 broad.mit.edu 37 7 4091359 4091359 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:4091359G>C ENST00000404826.2 + 19 2947 c.2808G>C c.(2806-2808)acG>acC p.T936T SDK1_ENST00000389531.3_Silent_p.T936T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 936 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GACACATAACGAACCTGAAGA 0.577000 40 83 0 0 0.005524 0 0 COL8A1 1295 broad.mit.edu 37 3 99513943 99513943 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:99513943C>A ENST00000261037.3 + 5 1578 c.1198C>A c.(1198-1200)Cct>Act p.P400T COL8A1_ENST00000273342.4_Missense_Mutation_p.P400T NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 400 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AATCCCAGGTCCTATGGGCCC 0.612000 8 62 0.00307968 0.0049967 0.003080 1 0 RYR3 6263 broad.mit.edu 37 15 34040373 34040373 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:34040373G>A ENST00000389232.4 + 54 8118 c.8048G>A c.(8047-8049)gGc>gAc p.G2683D RYR3_ENST00000415757.3_Missense_Mutation_p.G2683D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2683 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGGCTGTGGGCTGGACTGTG 0.522000 22 28 0 0 0.003330 0 0 HERC5 51191 broad.mit.edu 37 4 89407376 89407376 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:89407376T>C ENST00000264350.3 + 14 2001 c.1848T>C c.(1846-1848)acT>acC p.T616T HERC5_ENST00000508159.1_Silent_p.T254T NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 616 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity p.T616T(1) NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GGAAAATGACTGTGGTAGGTA 0.373000 13 32 0 0 0.001368 0 0 SPRR1B 6699 broad.mit.edu 37 1 153004977 153004977 + Splice_Site SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:153004977A>G ENST00000392661.3 + 1 156 c.156_splice c.e1+1 p.K52_splice SPRR1B_ENST00000307098.4_Silent_p.K52K P22528 SPR1B_HUMAN small proline-rich protein 1B 68 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2) 9 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCACCCCAAAGTGCCCGAGC 0.627000 13 122 0 0 0.001882 0 0 OR2T8 343172 broad.mit.edu 37 1 248084536 248084536 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248084536T>C ENST00000319968.4 + 1 217 c.217T>C c.(217-219)Tcc>Ccc p.S73P NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GATGCTGGTTTCCACCACTGT 0.572000 6 129 0 0 0.004482 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6876197 6876197 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:6876197C>A ENST00000419673.2 + 9 1020 c.803C>A c.(802-804)gCt>gAt p.A268D ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A268D|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A263D|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A268D|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A427D|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A427D|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A250D|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A375D NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 250 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) GGATGTACTGCTAAAGTCAAG 0.388000 65 63 5.26073e-25 1.30028e-24 0.003610 1 0 KIAA1377 57562 broad.mit.edu 37 11 101834193 101834193 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:101834193T>C ENST00000263468.8 + 6 2697 c.2427T>C c.(2425-2427)aaT>aaC p.N809N KIAA1377_ENST00000537689.1_Silent_p.N610N NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 809 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CTACATCAAATATTAGAAGTG 0.348000 9 28 0 0 0.004482 0 0 ADPRH 141 broad.mit.edu 37 3 119301305 119301305 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:119301305C>A ENST00000478399.1 + 2 1694 c.289C>A c.(289-291)Cgg>Agg p.R97R ADPRH_ENST00000478927.1_Silent_p.R97R|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000357003.3_Silent_p.R97R|ADPRH_ENST00000465513.1_Silent_p.R97R P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 97 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) CATGGATGGGCGGGCACCAGG 0.473000 14 84 9.7654e-05 0.000163463 0.000958 1 0 ALDH5A1 7915 broad.mit.edu 37 6 24533787 24533787 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:24533787G>A ENST00000357578.3 + 10 1600 c.1455G>A c.(1453-1455)ctG>ctA p.L485L ALDH5A1_ENST00000491546.1_Silent_p.L457L|ALDH5A1_ENST00000546278.1_Silent_p.L397L|ALDH5A1_ENST00000348925.2_Silent_p.L498L NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 485 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) CAGAGCAGCTGGAAGTGGGCA 0.493000 78 71 0 0 0.003610 0 0 CELSR2 1952 broad.mit.edu 37 1 109803804 109803804 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:109803804G>A ENST00000271332.3 + 3 4160 c.4099G>A c.(4099-4101)Gtg>Atg p.V1367M NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1367 Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTACTGCCAGGTGACCACGCG 0.632000 28 67 0 0 0.001512 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433332 140433332 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140433332A>T ENST00000306549.3 + 1 2354 c.2277A>T c.(2275-2277)tcA>tcT p.S759S NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 759 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATGTGTTCAGCCACTGGCA 0.443000 6 92 0 0 0.001168 0 0 ZNF519 162655 broad.mit.edu 37 18 14105881 14105881 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:14105881G>A ENST00000590202.1 - 3 810 c.658C>T c.(658-660)Cca>Tca p.P220S ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TTTGAGAATGGGTCAGAAGTT 0.299000 15 167 0 0 0.003163 0 0 KCNA4 3739 broad.mit.edu 37 11 30033418 30033418 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:30033418G>A ENST00000328224.6 - 2 2041 c.808C>T c.(808-810)Cgg>Tgg p.R270W NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 270 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TCGTCCTCCCGAAACTTCAAC 0.512000 22 59 0 0 0.001882 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967712 58967712 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:58967712G>T ENST00000391696.1 + 3 2303 c.1371G>T c.(1369-1371)gtG>gtT p.V457V ZNF324B_ENST00000545523.1_Silent_p.V467V|ZNF324B_ENST00000336614.4_Silent_p.V467V Q6AW86 Z324B_HUMAN zinc finger protein 324B 467 D -> G (in Ref. 1; BAC87113). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGGGCGCCGTGCTGCTCAGCC 0.682000 23 68 1.22574e-08 2.29912e-08 0.002299 1 0 PCDHA5 56143 broad.mit.edu 37 5 140203532 140203532 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140203532G>T ENST00000529859.1 + 1 2172 c.2172G>T c.(2170-2172)gcG>gcT p.A724A PCDHA5_ENST00000529619.1_Silent_p.A724A|PCDHA5_ENST00000378126.3_Silent_p.A724A|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCTCGGCGCAGCCCACCG 0.657000 20 63 2.39187e-15 5.20335e-15 0.001216 1 0 PTGS1 5742 broad.mit.edu 37 9 125154751 125154751 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:125154751C>A ENST00000362012.2 + 11 1733 c.1728C>A c.(1726-1728)taC>taA p.Y576* PTGS1_ENST00000540753.1_Nonsense_Mutation_p.Y514*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.Y539*|PTGS1_ENST00000373698.5_Nonsense_Mutation_p.Y467* NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 576 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CCTGTCCCTACGTTTCCTTCC 0.582000 31 100 2.61193e-14 5.55312e-14 0.001786 1 0 TRAT1 50852 broad.mit.edu 37 3 108568018 108568018 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:108568018A>G ENST00000295756.6 + 5 450 c.220A>G c.(220-222)Atg>Gtg p.M74V TRAT1_ENST00000426646.1_Missense_Mutation_p.M37V NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 74 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 CCAAGAACCAATGGATGAAAA 0.338000 15 71 0 0 0.003163 0 0 KIT 3815 broad.mit.edu 37 4 55604710 55604710 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:55604710A>G ENST00000288135.5 + 21 3015 c.2918A>G c.(2917-2919)cAc>cGc p.H973R NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 973 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTGCTTGTGCACGACGATGTC 0.512000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 46 111 0 0 0.003610 0 0 TRPC6 7225 broad.mit.edu 37 11 101344380 101344380 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:101344380C>G ENST00000344327.3 - 7 2293 c.1869G>C c.(1867-1869)ctG>ctC p.L623L TRPC6_ENST00000532133.1_Silent_p.L545L|TRPC6_ENST00000348423.4_Silent_p.L507L|TRPC6_ENST00000360497.4_Silent_p.L568L NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 623 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GTGATATCTGCAGAGGTCCAA 0.348000 17 60 0 0 0.000958 0 0 SLC30A9 10463 broad.mit.edu 37 4 42022531 42022531 + Splice_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:42022531A>T ENST00000264451.6 + 4 613 c.434_splice c.e4+1 p.S145_splice NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 145 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CCTCAAATCCAGGTAATTTTT 0.348000 30 67 0 0 0.001271 0 0 UBE3B 89910 broad.mit.edu 37 12 109959106 109959106 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:109959106G>C ENST00000342494.3 + 20 2825 c.2230G>C c.(2230-2232)Gac>Cac p.D744H UBE3B_ENST00000434735.2_Missense_Mutation_p.D744H NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 744 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GAGAGTTTTTGACCCAGCACT 0.488000 31 99 0 0 0.001786 0 0 CPNE5 57699 broad.mit.edu 37 6 36766231 36766231 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:36766231C>A ENST00000244751.2 - 5 952 c.e5+1 NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCAGAACTCACGTGTTTGGAT 0.512000 28 28 8.58068e-18 1.95033e-17 0.001271 1 0 ZNF467 168544 broad.mit.edu 37 7 149462862 149462862 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:149462862G>A ENST00000302017.3 - 5 1142 c.729C>T c.(727-729)ccC>ccT p.P243P ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCACGGGTAGGGCCGCTCGC 0.687000 12 20 0 0 0.001368 0 0 LARP4 113251 broad.mit.edu 37 12 50847384 50847384 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:50847384C>G ENST00000398473.2 + 9 1058 c.946C>G c.(946-948)Cag>Gag p.Q316E LARP4_ENST00000293618.8_Missense_Mutation_p.Q316E|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000518444.1_Missense_Mutation_p.Q315E|LARP4_ENST00000429001.3_Missense_Mutation_p.Q322E|LARP4_ENST00000518561.1_Missense_Mutation_p.Q246E|LARP4_ENST00000522085.1_Missense_Mutation_p.Q316E NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 316 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 TCCTCACCAACAGTACTCGGT 0.393000 27 81 0 0 0.001271 0 0 PHACTR3 116154 broad.mit.edu 37 20 58330273 58330273 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:58330273C>T ENST00000371015.1 + 4 862 c.395C>T c.(394-396)cCc>cTc p.P132L PHACTR3_ENST00000355648.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P129L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P91L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P91L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P91L NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 132 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GATGGAGGACCCCGATCTGTA 0.587000 9 17 0 0 0.000443 0 0 GP2 2813 broad.mit.edu 37 16 20327337 20327337 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:20327337C>A ENST00000302555.5 - 9 1591 c.1442G>T c.(1441-1443)aGt>aTt p.S481I GP2_ENST00000381362.4_Missense_Mutation_p.S484I|GP2_ENST00000341642.5_Missense_Mutation_p.S334I|GP2_ENST00000381360.5_Missense_Mutation_p.S337I P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 484 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CGGTACTTCACTGCGGACTTG 0.483000 24 85 2.79863e-10 5.46387e-10 0.004656 1 0 C10orf88 80007 broad.mit.edu 37 10 124708266 124708266 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:124708266T>A ENST00000481909.1 - 4 771 c.547A>T c.(547-549)Agg>Tgg p.R183W C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 183 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) AGGTCTATCCTTGATCCTAGA 0.458000 28 33 0 0 0.001061 0 0 SCN10A 6336 broad.mit.edu 37 3 38763808 38763808 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:38763808C>A ENST00000449082.2 - 19 3447 c.3448G>T c.(3448-3450)Gag>Tag p.E1150* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1150 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAGCTGTGCTCCACGATACGG 0.547000 20 33 0.000132079 0.000220534 0.001216 1 0 ZBTB38 253461 broad.mit.edu 37 3 141163889 141163889 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:141163889A>T ENST00000514251.1 + 4 2938 c.2659A>T c.(2659-2661)Agc>Tgc p.S887C ZBTB38_ENST00000321464.5_Missense_Mutation_p.S888C|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S887C Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 887 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 CAGTGGAGACAGCCCACTCGG 0.507000 19 65 0 0 0.001216 0 0 TKTL2 84076 broad.mit.edu 37 4 164394427 164394427 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:164394427T>C ENST00000280605.3 - 1 620 c.460A>G c.(460-462)Atg>Gtg p.M154V NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 154 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCATCTCCCATAAGGCAGAAC 0.542000 30 80 0 0 0.001512 0 0 ZNF451 26036 broad.mit.edu 37 6 57006110 57006110 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:57006110A>T ENST00000370706.4 + 8 957 c.713A>T c.(712-714)gAt>gTt p.D238V RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D238V|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D238V|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GAAGCCACAGATGATGGACAT 0.323000 6 42 0 0 0.001168 0 0 IKZF4 64375 broad.mit.edu 37 12 56429106 56429106 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:56429106G>A ENST00000262032.5 + 12 2116 c.1749G>A c.(1747-1749)aaG>aaA p.K583K IKZF4_ENST00000547167.1_Silent_p.K583K|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.K538K|IKZF4_ENST00000431367.2_Silent_p.K481K Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 583 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGAGCATAAGGTGGGCTAGC 0.547000 7 191 0 0 0.001984 0 0 KLB 152831 broad.mit.edu 37 4 39408952 39408952 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:39408952G>T ENST00000257408.4 + 1 480 c.383G>T c.(382-384)aGt>aTt p.S128I NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 128 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 AATGGTTCCAGTGACAGTTAT 0.398000 37 113 2.09667e-21 5.02749e-21 0.003755 1 0 OR6Q1 219952 broad.mit.edu 37 11 57799168 57799168 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:57799168C>A ENST00000302622.3 + 1 767 c.744C>A c.(742-744)caC>caA p.H248Q OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) GTGCAGCTCACCTGACTGTGG 0.512000 52 139 2.14674e-31 5.4195e-31 0.003610 1 0 TICAM2 353376 broad.mit.edu 37 5 114916308 114916308 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:114916308T>C ENST00000408996.4 - 4 1539 c.1153A>G c.(1153-1155)Aag>Gag p.K385E TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.K216E|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.K385E NM_001164468.2|NM_001164469.2 NP_001157940.1|NP_001157941.1 toll-like receptor adaptor molecule 2 cervix(1)|kidney(1)|lung(2)|soft_tissue(1) 5 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05) TGTTGTGTCTTATACACAGAC 0.378000 17 44 0 0 0.006122 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75929588 75929588 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:75929588G>C ENST00000262207.4 + 10 1498 c.1030G>C c.(1030-1032)Ggt>Cgt p.G344R CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G158R|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G156R NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 344 LCCL 1. extracellular region p.G344S(1) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) AATTCATTATGGTATAATAGA 0.343000 44 62 0 0 0.001706 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973704 29973704 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:29973704C>G ENST00000378993.1 + 11 2531 c.1858C>G c.(1858-1860)Cgt>Ggt p.R620G IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R620G NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 620 Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity p.R620S(2) biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TTCACAAATGCGTCAGAAACA 0.532000 7 10 0 0 0.001984 0 0 GPR27 2850 broad.mit.edu 37 3 71804129 71804129 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:71804129T>A ENST00000304411.2 + 1 929 c.929T>A c.(928-930)gTg>gAg p.V310E NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 310 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) CGGGTCCTGGTGCGGCCCGGC 0.667000 10 15 0 0 0.000443 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255364 140255364 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140255364A>G ENST00000398631.2 + 1 307 c.307A>G c.(307-309)Agt>Ggt p.S103G PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGAGTGCAGTATCCACCT 0.557000 74 186 0 0 0.003610 0 0 NRXN1 9378 broad.mit.edu 37 2 50779852 50779852 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:50779852C>T ENST00000404971.1 - 10 3091 c.1752G>A c.(1750-1752)gaG>gaA p.E584E NRXN1_ENST00000405472.3_Silent_p.E536E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.E536E|NRXN1_ENST00000401669.2_Silent_p.E544E|NRXN1_ENST00000406316.2_Silent_p.E544E|NRXN1_ENST00000406859.3_Silent_p.E544E NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 544 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CATCTAGCATCTCAATAGCAA 0.448000 30 73 0 0 0.001512 0 0 ASXL3 80816 broad.mit.edu 37 18 31323688 31323688 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:31323688C>A ENST00000269197.5 + 12 3876 c.3876C>A c.(3874-3876)tgC>tgA p.C1292* NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1292 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACACTCCATGCATAGCCATTA 0.393000 68 53 1.72039e-30 4.32684e-30 0.003610 1 0 CHIT1 1118 broad.mit.edu 37 1 203192687 203192687 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:203192687C>A ENST00000367229.1 - 5 450 c.416G>T c.(415-417)tGg>tTg p.W139L CHIT1_ENST00000535569.1_Missense_Mutation_p.W130L|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.W120L NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 139 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 TGGGTACTCCCAGTCAAGGTC 0.582000 42 83 9.85913e-13 2.01705e-12 0.002222 1 0 TECRL 253017 broad.mit.edu 37 4 65275045 65275045 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:65275045C>A ENST00000381210.3 - 1 135 c.25G>T c.(25-27)Gct>Tct p.A9S TECRL_ENST00000507440.1_Missense_Mutation_p.A9S NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 9 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CGTTCCGAAGCGAGGGACTTG 0.393000 25 57 4.59853e-10 8.94307e-10 0.005443 1 0 CAMK2A 815 broad.mit.edu 37 5 149636159 149636159 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:149636159C>A ENST00000348628.6 - 6 1053 c.388G>T c.(388-390)Ggg>Tgg p.G130W CAMK2A_ENST00000398376.3_Missense_Mutation_p.G130W NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 130 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCACCACCCCCATCTGGTGG 0.637000 6 30 3.59834e-05 6.09954e-05 0.001168 1 0 DSCAML1 57453 broad.mit.edu 37 11 117303127 117303127 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:117303127G>C ENST00000321322.6 - 30 5301 c.5300C>G c.(5299-5301)cCa>cGa p.P1767R DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1497R NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1707 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GATGAGGGTTGGGTGGTGCAA 0.577000 14 35 0 0 0.003163 0 0 TRIO 7204 broad.mit.edu 37 5 14488346 14488346 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:14488346G>T ENST00000344204.4 + 48 7633 c.7609G>T c.(7609-7611)Gtg>Ttg p.V2537L TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2537 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CGAGCAGTCCGTGCAGTCCAC 0.721000 7 14 8.12818e-05 0.000136171 0.001984 1 0 NSD1 64324 broad.mit.edu 37 5 176637567 176637567 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:176637567A>T ENST00000439151.2 + 5 2212 c.2167A>T c.(2167-2169)Acc>Tcc p.T723S NSD1_ENST00000354179.4_Missense_Mutation_p.T454S|NSD1_ENST00000361032.4_Missense_Mutation_p.T620S|NSD1_ENST00000347982.4_Missense_Mutation_p.T454S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 723 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGAGCCTGGAACCGAGACGTC 0.428000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 26 58 0 0 0.003954 0 0 TRIML1 339976 broad.mit.edu 37 4 189060957 189060957 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:189060957G>T ENST00000332517.3 + 1 385 c.245G>T c.(244-246)cGg>cTg p.R82L NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 82 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AGGCAGCTCCGGTCCCAGGTG 0.637000 18 48 6.94344e-10 1.34642e-09 0.006122 1 0 RPH3A 22895 broad.mit.edu 37 12 113307719 113307719 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:113307719C>A ENST00000389385.4 + 10 1168 c.671C>A c.(670-672)cCc>cAc p.P224H RPH3A_ENST00000415485.3_Missense_Mutation_p.P224H|RPH3A_ENST00000447659.2_Missense_Mutation_p.P175H|RPH3A_ENST00000548866.1_Missense_Mutation_p.P175H|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.P220H|RPH3A_ENST00000420983.2_Missense_Mutation_p.P224H|RPH3A_ENST00000543106.2_Missense_Mutation_p.P224H NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 224 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GCCTCTGCTCCCGGGCGAGGA 0.562000 29 62 3.99451e-17 8.97758e-17 0.001786 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156696131 156696131 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:156696131A>T ENST00000264424.8 + 3 171 c.89A>T c.(88-90)cAg>cTg p.Q30L GUCY1B3_ENST00000503520.1_Missense_Mutation_p.Q30L|GUCY1B3_ENST00000507146.1_5'UTR|GUCY1B3_ENST00000505154.1_5'UTR|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.Q30L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.Q10L|GUCY1B3_ENST00000513437.1_5'UTR NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 30 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AAAGAGGCACAGTTAGATGAA 0.318000 41 92 0 0 0.001951 0 0 TIE1 7075 broad.mit.edu 37 1 43770798 43770798 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:43770798G>T ENST00000372476.3 + 2 414 c.335G>T c.(334-336)cGg>cTg p.R112L TIE1_ENST00000441333.2_Missense_Mutation_p.R112L|TIE1_ENST00000538015.1_Missense_Mutation_p.R112L NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 112 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCTGGGGCGCGGCGCACGCGC 0.701000 12 16 4.3838e-07 7.88377e-07 0.001855 1 0 SPHKAP 80309 broad.mit.edu 37 2 228881633 228881633 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:228881633A>C ENST00000392056.3 - 7 3983 c.3937T>G c.(3937-3939)Tcc>Gcc p.S1313A SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1313A NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1313 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCCTCAATGGAGCTAGCCCAC 0.507000 17 27 0 0 0.006122 0 0 GLI3 2737 broad.mit.edu 37 7 42005670 42005670 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:42005670C>A ENST00000395925.3 - 15 3085 c.3001G>T c.(3001-3003)Ggc>Tgc p.G1001C GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1001 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CTCCTCACGCCGTGGCCCGGC 0.756000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 8 10 0.000274275 0.000453435 0.004482 1 0 FXYD3 5349 broad.mit.edu 37 19 35613703 35613703 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:35613703C>G ENST00000435734.2 + 7 391 c.132C>G c.(130-132)tgC>tgG p.C44W FXYD3_ENST00000535103.1_Missense_Mutation_p.C101W|FXYD3_ENST00000605550.1_Missense_Mutation_p.C44W|FXYD3_ENST00000346446.5_Missense_Mutation_p.C44W|FXYD3_ENST00000406988.1_Missense_Mutation_p.C44W|FXYD3_ENST00000406242.3_Missense_Mutation_p.C44W|FXYD3_ENST00000603524.1_Missense_Mutation_p.C73W|FXYD3_ENST00000344013.6_Missense_Mutation_p.C44W|FXYD3_ENST00000604804.1_Missense_Mutation_p.C73W|FXYD3_ENST00000605677.1_Missense_Mutation_p.C44W|FXYD3_ENST00000604404.1_Missense_Mutation_p.C44W|FXYD3_ENST00000603181.1_Missense_Mutation_p.C44W|FXYD3_ENST00000604621.1_Missense_Mutation_p.C44W|FXYD3_ENST00000604255.1_Missense_Mutation_p.C101W NM_001136011.1|NM_021910.2 NP_001129483.1|NP_068710.1 Q14802 FXYD3_HUMAN FXYD domain containing ion transport regulator 3 44 chloride channel complex|integral to plasma membrane chloride channel activity endometrium(1)|lung(2)|prostate(1) 4 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GGCTCATCTGCGCTGGGGTTC 0.652000 32 75 0 0 0.003271 0 0 PCDH7 5099 broad.mit.edu 37 4 30725162 30725162 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:30725162C>T ENST00000361762.2 + 1 3126 c.2118C>T c.(2116-2118)acC>acT p.T706T PCDH7_ENST00000543491.1_Silent_p.T706T NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 706 Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 AACATCAGACCACATACACTT 0.443000 29 70 0 0 0.001061 0 0 SURF2 6835 broad.mit.edu 37 9 136226863 136226863 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:136226863T>C ENST00000371964.4 + 4 416 c.375T>C c.(373-375)ccT>ccC p.P125P SURF2_ENST00000495524.1_3'UTR NM_017503.3 NP_059973.3 Q15527 SURF2_HUMAN surfeit 2 125 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) AGTACGTGCCTGCCTGCCTGG 0.647000 9 23 0 0 0.004482 0 0 ABCB1 5243 broad.mit.edu 37 7 87160614 87160614 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:87160614C>G ENST00000265724.3 - 22 3098 c.2681G>C c.(2680-2682)gGg>gCg p.G894A ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.G830A NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 894 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ACTCACCTTCCCAGAACCTTC 0.343000 23 36 0 0 0.002299 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092590 29092590 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:29092590C>A ENST00000306108.5 - 1 577 c.554G>T c.(553-555)gGg>gTg p.G185V NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 185 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 CGGGACTGCCCCCCAGTTACT 0.498000 33 91 2.68265e-12 5.41113e-12 0.002836 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125879696 125879696 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:125879696C>A ENST00000393434.2 - 2 476 c.127_splice c.e2+1 p.G43_splice ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000393431.2_Splice_Site_p.G43_splice|ALDH1L1_ENST00000273450.3_Splice_Site_p.G53_splice|ALDH1L1_ENST00000452905.2_Splice_Site_p.G43_splice|ALDH1L1_ENST00000472186.1_Splice_Site_p.G43_splice NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 43 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCTCACTCACCCAGGGGGTCG 0.602000 28 162 9.39395e-14 1.96802e-13 0.001061 1 0 SLC6A15 55117 broad.mit.edu 37 12 85266419 85266419 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:85266419G>A ENST00000266682.5 - 8 1805 c.1264C>T c.(1264-1266)Cat>Tat p.H422Y SLC6A15_ENST00000309283.7_Missense_Mutation_p.H130Y|SLC6A15_ENST00000552192.1_Missense_Mutation_p.H315Y NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 422 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 GAATTGAGATGAAGAGCAGGA 0.308000 20 36 0 0 0.001523 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33643537 33643537 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:33643537A>G ENST00000504830.1 - 10 1853 c.1518T>C c.(1516-1518)ttT>ttC p.F506F ADAMTS12_ENST00000352040.3_Silent_p.F506F|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 506 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TAGAGCGACAAAAGCCCTTCA 0.498000 HNSCC(64;0.19) 28 79 0 0 0.001786 0 0 RGL2 5863 broad.mit.edu 37 6 33262943 33262943 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:33262943C>T ENST00000497454.1 - 9 1665 c.1170G>A c.(1168-1170)gaG>gaA p.E390E RGL2_ENST00000444031.2_Silent_p.E308E|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 390 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 AATTATCCTCCTCGGAGAAAA 0.577000 4 23 0 0 0.000248 0 0 OR52I2 143502 broad.mit.edu 37 11 4608507 4608507 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:4608507C>T ENST00000312614.4 + 1 487 c.465C>T c.(463-465)gcC>gcT p.A155A NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTATGTAGCCATCTGCAAGC 0.488000 7 76 0 0 0.000443 0 0 PDE1C 5137 broad.mit.edu 37 7 31917614 31917614 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:31917614C>G ENST00000396184.3 - 6 665 c.461G>C c.(460-462)aGc>aCc p.S154T PDE1C_ENST00000396182.2_Missense_Mutation_p.S154T|PDE1C_ENST00000396193.1_Missense_Mutation_p.S214T|PDE1C_ENST00000396191.1_Missense_Mutation_p.S154T|PDE1C_ENST00000321453.7_Missense_Mutation_p.S154T NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 154 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGGTGGATAGCTCAGTCCAAC 0.338000 6 28 0 0 0.004482 0 0 CRX 1406 broad.mit.edu 37 19 48339545 48339545 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:48339545G>A ENST00000221996.7 + 3 352 c.146G>A c.(145-147)aGc>aAc p.S49N CRX_ENST00000539067.1_Missense_Mutation_p.S49N|TPRX2P_ENST00000535362.1_Intron NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 49 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TTCACCCGGAGCCAACTGGAG 0.632000 22 58 0 0 0.001523 0 0 TSPAN32 10077 broad.mit.edu 37 11 2335755 2335755 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:2335755G>C ENST00000182290.4 + 6 634 c.497G>C c.(496-498)gGg>gCg p.G166A TSPAN32_ENST00000451520.2_Missense_Mutation_p.G155A|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.G166A NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 166 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGCCGTCTGGGGAGCACAGAG 0.647000 3 10 0 0 0.004672 0 0 LRRN3 54674 broad.mit.edu 37 7 110762957 110762957 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:110762957C>A ENST00000451085.1 + 4 1175 c.129C>A c.(127-129)ccC>ccA p.P43P IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Silent_p.P43P|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Silent_p.P43P|IMMP2L_ENST00000447215.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 43 LRRNT. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GGTTTACACCCAGATCCATTT 0.413000 27 80 1.26454e-06 2.24596e-06 0.005443 1 0 HTRA1 5654 broad.mit.edu 37 10 124266322 124266322 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:124266322G>T ENST00000368984.3 + 4 1021 c.893G>T c.(892-894)aGc>aTc p.S298I NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 298 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) GGGATCGTGAGCACCACCCAG 0.622000 25 75 8.24728e-16 1.82495e-15 0.004656 1 0 IDS 3423 broad.mit.edu 37 X 148564745 148564745 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:148564745C>A ENST00000340855.6 - 9 1394 c.1185G>T c.(1183-1185)agG>agT p.R395S AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Missense_Mutation_p.R184S|IDS_ENST00000537071.1_5'UTR NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 395 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CCATGGATTGCCTGCCTGAAA 0.532000 11 9 4.68919e-08 8.65e-08 0.000673 1 0 CLIP1 6249 broad.mit.edu 37 12 122825411 122825411 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:122825411C>T ENST00000358808.2 - 10 2461 c.2307G>A c.(2305-2307)cgG>cgA p.R769R CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000540338.1_Silent_p.R780R|CLIP1_ENST00000537178.1_Silent_p.R734R|CLIP1_ENST00000302528.7_Silent_p.R769R NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 780 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) AACTGGCTTTCCGAAGTGCAT 0.393000 45 99 0 0 0.002222 0 0 FBN3 84467 broad.mit.edu 37 19 8206824 8206824 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:8206824C>A ENST00000600128.1 - 7 1153 c.739_splice c.e7+1 p.D247_splice FBN3_ENST00000270509.2_Splice_Site_p.D247_splice|FBN3_ENST00000601739.1_Splice_Site_p.D247_splice Q75N90 FBN3_HUMAN fibrillin 3 247 EGF-like 2; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CACTATTCACCTTGGCAGGCC 0.637000 14 47 1.5842e-08 2.96042e-08 0.001855 1 0 GXYLT2 727936 broad.mit.edu 37 3 73004273 73004273 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:73004273C>A ENST00000389617.4 + 4 786 c.625C>A c.(625-627)Ctt>Att p.L209I NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 209 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 TGTGGACTCACTTCTCTACGT 0.468000 13 15 5.50884e-06 9.56422e-06 0.001368 1 0 CST5 1473 broad.mit.edu 37 20 23860133 23860133 + Nonsense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23860133T>A ENST00000304710.4 - 1 254 c.181A>T c.(181-183)Aag>Tag p.K61* NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 61 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 TACTCATCCTTATTAATGACC 0.557000 70 224 0 0 0.003610 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746849 77746849 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:77746849G>T ENST00000409088.3 - 3 560 c.146C>A c.(145-147)tCt>tAt p.S49Y LRRTM4_ENST00000409911.1_Missense_Mutation_p.S50Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S49Y|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S50Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S49Y NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 49 LRRNT. integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GAAAGCATGAGACTCACAGTA 0.463000 27 72 1.17739e-12 2.39901e-12 0.005443 1 0 CDC34 997 broad.mit.edu 37 19 541375 541375 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:541375T>C ENST00000215574.4 + 5 752 c.534T>C c.(532-534)cgT>cgC p.R178R NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 178 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCGGAGCGTGACGGCGTGA 0.706000 6 11 0 0 0.001984 0 0 OR4L1 122742 broad.mit.edu 37 14 20528986 20528986 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20528986A>G ENST00000315683.1 + 1 783 c.783A>G c.(781-783)ccA>ccG p.P261P NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATGTTTGGCCATTCAGTAGTT 0.403000 23 87 0 0 0.002780 0 0 CCL8 6355 broad.mit.edu 37 17 32646545 32646545 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:32646545T>C ENST00000394620.1 + 1 491 c.25T>C c.(25-27)Tgc>Cgc p.C9R NM_005623.2 NP_005614.2 P80075 CCL8_HUMAN chemokine (C-C motif) ligand 8 9 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) AGCGCTTCTGTGCCTGCTGCT 0.527000 35 49 0 0 0.005524 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190992 39190992 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:39190992T>C ENST00000344363.5 - 1 115 c.82A>G c.(82-84)Agc>Ggc p.S28G NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 28 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TCACAGCAGCTTGGCTGGCAG 0.597000 34 57 0 0 0.003755 0 0 HTR1E 3354 broad.mit.edu 37 6 87725582 87725582 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:87725582A>T ENST00000305344.4 + 2 1233 c.530A>T c.(529-531)cAc>cTc p.H177L HTR1E_ENST00000369584.1_Missense_Mutation_p.H177L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 177 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ACCATCCAGCACGACCATGTT 0.522000 19 69 0 0 0.000958 0 0 MYO1C 4641 broad.mit.edu 37 17 1386207 1386207 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:1386207T>G ENST00000359786.5 - 4 818 c.494A>C c.(493-495)gAg>gCg p.E165A MYO1C_ENST00000438665.2_Missense_Mutation_p.E146A|MYO1C_ENST00000575158.1_Missense_Mutation_p.E130A|MYO1C_ENST00000361007.2_Missense_Mutation_p.E130A|MYO1C_ENST00000545534.2_Missense_Mutation_p.E141A NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 165 Myosin head-like. E -> Q (in Ref. 1; CAA67131). mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACCTCCGCGCTCGGGGGCTGG 0.692000 13 30 0 0 0.001855 0 0 PRKCG 5582 broad.mit.edu 37 19 54401341 54401341 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54401341T>C ENST00000536044.1 + 9 1276 c.980T>C c.(979-981)tTc>tCc p.F327S PRKCG_ENST00000540413.1_Silent_p.V356V|PRKCG_ENST00000263431.3_Silent_p.V356V|PRKCG_ENST00000542049.1_Silent_p.V243V P05129 KPCG_HUMAN protein kinase C, gamma 0 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TCCTCATGGTTCTAGGAAAAG 0.572000 19 42 0 0 0.006122 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107069363 107069363 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:107069363C>T ENST00000539449.1 - 3 908 c.432G>A c.(430-432)tgG>tgA p.W144* RTN4IP1_ENST00000369063.3_Nonsense_Mutation_p.W144* Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 144 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) GAACTGCAGCCCAGACCTGAA 0.418000 26 95 0 0 0.005443 0 0 TRMT1L 81627 broad.mit.edu 37 1 185114616 185114616 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:185114616T>A ENST00000367504.3 - 5 881 c.142A>T c.(142-144)Agg>Tgg p.R48W TRMT1L_ENST00000367506.5_Missense_Mutation_p.R204W Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 204 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 ATGTGGCGCCTAACATGTCCT 0.343000 20 61 0 0 0.001882 0 0 NES 10763 broad.mit.edu 37 1 156642721 156642721 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:156642721C>A ENST00000368223.3 - 4 1391 c.1259G>T c.(1258-1260)gGg>gTg p.G420V NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 420 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGTTTCCTCCCACCCTGTGT 0.657000 24 67 4.47668e-21 1.06961e-20 0.003954 1 0 CYLC2 1539 broad.mit.edu 37 9 105765547 105765547 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:105765547T>C ENST00000374798.3 + 3 250 c.e3+2 CYLC2_ENST00000487798.1_Splice_Site NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) ACGGTTTCTGTAAGCATTGGA 0.323000 16 52 0 0 0.004007 0 0 COL19A1 1310 broad.mit.edu 37 6 70859624 70859624 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:70859624G>T ENST00000322773.4 + 28 2024 c.1922G>T c.(1921-1923)gGt>gTt p.G641V COL19A1_ENST00000393344.1_Missense_Mutation_p.G263V NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 641 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGAGAGCCAGGTATTCAGGTA 0.383000 13 34 0.00244969 0.00398423 0.002450 1 0 FAT3 120114 broad.mit.edu 37 11 92533403 92533403 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:92533403C>G ENST00000298047.6 + 9 7241 c.7224C>G c.(7222-7224)ccC>ccG p.P2408P FAT3_ENST00000525166.1_Silent_p.P2258P|FAT3_ENST00000409404.2_Silent_p.P2408P Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2408 Cadherin 22. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.P2408P(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATTAGCCCCCCGGGGCCATT 0.443000 TCGA Ovarian(4;0.039) 42 89 0 0 0.001706 0 0 SIM1 6492 broad.mit.edu 37 6 100838661 100838661 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:100838661T>A ENST00000369208.3 - 12 2659 c.1877A>T c.(1876-1878)aAc>aTc p.N626I SIM1_ENST00000262901.4_Missense_Mutation_p.N626I P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 626 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TGGTGAAGTGTTGGCAAGAGC 0.493000 53 123 0 0 0.003610 0 0 PACS1 55690 broad.mit.edu 37 11 66003368 66003368 + Splice_Site SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:66003368G>A ENST00000320580.4 + 19 2240 c.e19-1 PACS1_ENST00000529757.1_Splice_Site NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TCTCCCAACAGCCCTGATGAA 0.532000 37 115 0 0 0.001287 0 0 ABCA13 154664 broad.mit.edu 37 7 48443395 48443395 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:48443395G>T ENST00000435803.1 + 39 12013 c.11989G>T c.(11989-11991)Gtg>Ttg p.V3997L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3997 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GTCGAGGACCGTGGTTCTGGA 0.572000 9 25 1.76689e-08 3.29568e-08 0.000443 1 0 ZNF286B 729288 broad.mit.edu 37 17 18565409 18565409 + Silent SNP A A G rs143494999 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:18565409A>G ENST00000545289.1 - 5 1660 c.1410T>C c.(1408-1410)agT>agC p.S470S NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 TTCCACACTCACTACATTTGT 0.393000 3 36 0 0 0.004482 0 0 DYSF 8291 broad.mit.edu 37 2 71797809 71797809 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:71797809C>T ENST00000258104.3 + 29 3389 c.3112C>T c.(3112-3114)Cga>Tga p.R1038* DYSF_ENST00000409651.1_Nonsense_Mutation_p.R1070*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.R1056*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.R1039*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.R1038*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.R1055*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.R1039*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.R1056*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.R1069*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.R1025*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.R1055* NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1038 Arg-rich. R -> Q (in LGMD2B; uncertain pathogenicity). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTACACACACCGACGGCGGCG 0.642000 14 32 0 0 0.002450 0 0 GPR32 2854 broad.mit.edu 37 19 51274592 51274592 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:51274592G>T ENST00000270590.4 + 1 872 c.735G>T c.(733-735)cgG>cgT p.R245R NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 245 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) AGCTCTTGCGGGAGGGCTGGG 0.602000 20 49 4.63292e-17 1.03891e-16 0.001216 1 0 PRKAB1 5564 broad.mit.edu 37 12 120114377 120114377 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:120114377G>T ENST00000229328.5 + 5 1060 c.568G>T c.(568-570)Gag>Tag p.E190* PRKAB1_ENST00000540121.1_Nonsense_Mutation_p.E24*|PRKAB1_ENST00000541640.1_Nonsense_Mutation_p.E190* NM_006253.4 NP_006244.2 Q9Y478 AAKB1_HUMAN protein kinase, AMP-activated, beta 1 non-catalytic subunit 190 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol endometrium(2)|large_intestine(3)|lung(5) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) CTACCATCAGGAGCCCTACGT 0.537000 36 80 9.80977e-26 2.42765e-25 0.004289 1 0 UGGT2 55757 broad.mit.edu 37 13 96599374 96599374 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:96599374C>T ENST00000376747.3 - 15 1664 c.1594G>A c.(1594-1596)Gat>Aat p.D532N NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 532 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 ACTCCAGCATCATTTGCTCCA 0.343000 23 33 0 0 0.002299 0 0 USP4 7375 broad.mit.edu 37 3 49377429 49377429 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:49377429C>G ENST00000351842.4 - 1 37 c.29G>C c.(28-30)cGa>cCa p.R10P USP4_ENST00000265560.4_Missense_Mutation_p.R10P|USP4_ENST00000416417.1_Missense_Mutation_p.R10P|USP4_ENST00000415188.1_Missense_Mutation_p.R10P NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 10 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CGCATCCGGTCGCTCACGGCA 0.697000 6 24 0 0 0.001168 0 0 TNN 63923 broad.mit.edu 37 1 175049390 175049390 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:175049390C>A ENST00000239462.4 + 4 989 c.876C>A c.(874-876)ctC>ctA p.L292L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 292 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATCACTACCTCCTCAGCTACT 0.592000 18 37 5.3912e-06 9.37621e-06 0.006122 1 0 SCAF4 57466 broad.mit.edu 37 21 33064243 33064243 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:33064243T>C ENST00000286835.7 - 14 1997 c.1614_splice c.e14-1 p.M539_splice SCAF4_ENST00000434667.3_Splice_Site_p.M524_splice|SCAF4_ENST00000399804.1_Splice_Site_p.M539_splice NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 539 RRM. nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GGAGGAATCATCTGCTCCAAA 0.408000 17 52 0 0 0.004990 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974575 29974575 + RNA SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:29974575A>C ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA CCTCGCCCCCAGGCTCCCACT 0.711000 4 45 0 0 0.000248 0 0 CREG2 200407 broad.mit.edu 37 2 102000150 102000150 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:102000150T>C ENST00000324768.4 - 2 593 c.456A>G c.(454-456)ccA>ccG p.P152P CREG2_ENST00000495455.1_5'UTR NM_153836.3 NP_722578.1 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 152 extracellular region FMN binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 AGTTCCCAAATGGCAGTCCTT 0.512000 34 77 0 0 0.003271 0 0 KIF4B 285643 broad.mit.edu 37 5 154394597 154394597 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:154394597A>T ENST00000435029.4 + 1 1338 c.1178A>T c.(1177-1179)cAg>cTg p.Q393L NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 393 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAGAAGAATCAGTCCCTGGTA 0.468000 33 100 0 0 0.001786 0 0 PLCB3 5331 broad.mit.edu 37 11 64022704 64022704 + Splice_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:64022704A>T ENST00000540288.1 + 5 490 c.e5-1 PLCB3_ENST00000325234.5_Splice_Site|PLCB3_ENST00000279230.6_Splice_Site NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CTGGCCCCCCAGGTCTGGTCT 0.627000 8 10 0 0 0.000673 0 0 ABCA3 21 broad.mit.edu 37 16 2329015 2329015 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:2329015C>T ENST00000301732.5 - 29 5176 c.4476G>A c.(4474-4476)ggG>ggA p.G1492G ABCA3_ENST00000382381.3_Silent_p.G1434G NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1492 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CCACGCAGGCCCCGATGTGGC 0.652000 41 104 0 0 0.001287 0 0 F7 2155 broad.mit.edu 37 13 113770072 113770072 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:113770072G>T ENST00000375581.3 + 6 564 c.529G>T c.(529-531)Ggg>Tgg p.G177W F7_ENST00000346342.3_Missense_Mutation_p.G155W|F7_ENST00000541084.1_Missense_Mutation_p.G108W NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 177 EGF-like 2. G -> R (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GTGCCACGAGGGGTACTCTCT 0.602000 7 24 0.00198382 0.00323176 0.001984 1 0 ANO4 121601 broad.mit.edu 37 12 101491468 101491468 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:101491468C>A ENST00000392979.3 + 19 2146 c.1785C>A c.(1783-1785)aaC>aaA p.N595K ANO4_ENST00000299222.9_Missense_Mutation_p.N150K|ANO4_ENST00000392977.3_Missense_Mutation_p.N630K|ANO4_ENST00000550015.1_Missense_Mutation_p.N150K NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 630 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 GGCTGATAAACAGGTGGAGAC 0.428000 HNSCC(74;0.22) 20 52 2.39556e-15 5.20335e-15 0.002780 1 0 CACNA1D 776 broad.mit.edu 37 3 53781378 53781378 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:53781378C>A ENST00000288139.3 + 27 3395 c.3277C>A c.(3277-3279)Cgt>Agt p.R1093S CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1073S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1073S NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1073 Dihydropyridine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TCCTGTGGTCCGTGAACGGAT 0.527000 43 42 4.16155e-14 8.80108e-14 0.001951 1 0 PIWIL1 9271 broad.mit.edu 37 12 130831562 130831562 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:130831562C>A ENST00000245255.3 + 6 880 c.608C>A c.(607-609)cCt>cAt p.P203H NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 203 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAACTTCCACCTACATCACCA 0.348000 17 36 6.94344e-10 1.34642e-09 0.006122 1 0 CWF19L2 143884 broad.mit.edu 37 11 107224343 107224343 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:107224343C>A ENST00000282251.5 - 13 2019 c.1992G>T c.(1990-1992)gaG>gaT p.E664D CWF19L2_ENST00000433523.1_Missense_Mutation_p.E664D NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 664 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) GACTCCGATGCTCAGCAATAG 0.413000 24 53 2.21704e-12 4.48096e-12 0.002780 1 0 SPN 6693 broad.mit.edu 37 16 29675891 29675891 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:29675891A>C ENST00000360121.3 + 2 934 c.842A>C c.(841-843)cAg>cCg p.Q281P SPN_ENST00000395389.2_Missense_Mutation_p.Q281P|AC009133.19_ENST00000449759.1_Intron NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 281 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CGCCGGCGGCAGAAGCGGCGG 0.697000 8 20 0 0 0.003080 0 0 DBX2 440097 broad.mit.edu 37 12 45429829 45429829 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:45429829G>C ENST00000332700.6 - 2 643 c.472C>G c.(472-474)Cgc>Ggc p.R158G NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 158 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) gatgcagggcgccgacaggac 0.493000 6 13 0 0 0.001168 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745967 37745967 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:37745967C>A ENST00000539465.1 + 16 4531 c.3938C>A c.(3937-3939)gCc>gAc p.A1313D FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1313D|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1313 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CTCAGGGTGGCCACATCTTTG 0.532000 33 91 1.08312e-15 2.37576e-15 0.001786 1 0 IFI44L 10964 broad.mit.edu 37 1 79106756 79106756 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:79106756C>A ENST00000370751.4 + 7 1278 c.1099C>A c.(1099-1101)Ctt>Att p.L367I IFI44L_ENST00000342282.3_Missense_Mutation_p.L109I|IFI44L_ENST00000476521.1_3'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 367 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 CAGTGAGGTTCTTCAAGACAA 0.313000 61 34 1.46168e-27 3.6262e-27 0.003610 1 0 ANKZF1 55139 broad.mit.edu 37 2 220095004 220095004 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:220095004C>T ENST00000323348.5 + 2 199 c.25C>T c.(25-27)Ccg>Tcg p.P9S ANKZF1_ENST00000410034.3_Missense_Mutation_p.P9S|ANKZF1_ENST00000409849.1_Intron NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 9 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATGCAGCCCCGGCTCCTGC 0.612000 11 22 0 0 0.001368 0 0 SAMD3 154075 broad.mit.edu 37 6 130535481 130535481 + Splice_Site SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:130535481C>T ENST00000532763.1 - 3 399 c.e3+1 SAMD3_ENST00000324172.6_Splice_Site|SAMD3_ENST00000457563.2_Splice_Site|SAMD3_ENST00000439090.2_Splice_Site|SAMD3_ENST00000437477.2_Splice_Site|SAMD3_ENST00000368134.2_Splice_Site|SAMD3_ENST00000533296.1_Splice_Site Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) AACATACTCACTCTCGAGCTG 0.433000 25 68 0 0 0.005443 0 0 NLRC4 58484 broad.mit.edu 37 2 32475967 32475967 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:32475967C>T ENST00000404025.2 - 5 1454 c.966G>A c.(964-966)ttG>ttA p.L322L NLRC4_ENST00000360906.5_Silent_p.L322L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L322L Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 322 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GAATTTGGAGCAACAAGCCTT 0.507000 18 51 0 0 0.006122 0 0 PSG2 5670 broad.mit.edu 37 19 43585036 43585036 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:43585036A>G ENST00000406487.1 - 2 525 c.427T>C c.(427-429)Tac>Cac p.Y143H NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 143 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CACTTACGGTATAAGGTGAAG 0.507000 37 131 0 0 0.003610 0 0 FLRT2 23768 broad.mit.edu 37 14 86088278 86088278 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:86088278G>C ENST00000330753.4 + 2 1187 c.420G>C c.(418-420)ctG>ctC p.L140L FLRT2_ENST00000554746.1_Silent_p.L140L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 140 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGCTGCACCTGGATGACAACT 0.488000 16 55 0 0 0.003163 0 0 KIAA1429 25962 broad.mit.edu 37 8 95543280 95543280 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:95543280C>A ENST00000297591.5 - 6 593 c.518G>T c.(517-519)aGc>aTc p.S173I KIAA1429_ENST00000421249.2_Missense_Mutation_p.S173I|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S173I NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 173 Pro-rich. mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TCTTGGAGGGCTTCCATTAAA 0.463000 11 46 1.08611e-07 1.98346e-07 0.000978 1 0 ZDBF2 57683 broad.mit.edu 37 2 207176110 207176110 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:207176110G>T ENST00000374423.3 + 5 7244 c.6858G>T c.(6856-6858)atG>atT p.M2286I NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2286 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CAAGCGCTATGGCAAATCCTC 0.507000 8 4 0.000274275 0.000453435 0.004482 1 0 ACKR4 51554 broad.mit.edu 37 3 132319825 132319825 + Nonsense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:132319825C>G ENST00000249887.2 + 2 680 c.584C>G c.(583-585)tCa>tGa p.S195* ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 CTAGGAACATCAATGAAAGCA 0.433000 3 52 0 0 0.003080 0 0 METTL1 4234 broad.mit.edu 37 12 58163103 58163103 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:58163103C>A ENST00000324871.7 - 5 1367 c.658G>T c.(658-660)Gtg>Ttg p.V220L METTL1_ENST00000257848.7_3'UTR NM_005371.5 NP_005362.3 Q9UBP6 TRMB_HUMAN methyltransferase like 1 220 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) TCCAGAGGCACACGCTCAAAC 0.537000 11 21 3.86212e-05 6.52464e-05 0.000673 1 0 PIP5K1C 23396 broad.mit.edu 37 19 3653452 3653452 + Missense_Mutation SNP C C G rs121908315 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:3653452C>G ENST00000335312.3 - 7 845 c.757G>C c.(757-759)Gac>Cac p.D253H PIP5K1C_ENST00000589578.1_Missense_Mutation_p.D253H|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.D253H|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.D253H NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 253 PIPK. D -> N (in LCCS3; loss of activity). axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CCCTTGAGGTCGAACTTGAGG 0.587000 21 61 0 0 0.002299 0 0 OGDHL 55753 broad.mit.edu 37 10 50966454 50966454 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:50966454T>A ENST00000374103.4 - 2 270 c.185A>T c.(184-186)aAc>aTc p.N62I OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Missense_Mutation_p.N62I NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 62 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 ACTCTGGGGGTTTTCCAACCA 0.662000 31 92 0 0 0.002096 0 0 PKD1 5310 broad.mit.edu 37 16 2159077 2159077 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:2159077C>A ENST00000262304.4 - 15 6299 c.6091G>T c.(6091-6093)Gtg>Ttg p.V2031L PKD1_ENST00000423118.1_Missense_Mutation_p.V2031L NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2031 PKD 16. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCCGCGGCCACGGGCGTGTAG 0.677000 45 48 2.215e-12 4.48096e-12 0.002852 1 0 DOCK1 1793 broad.mit.edu 37 10 129224216 129224216 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:129224216G>A ENST00000280333.6 + 47 4901 c.4792G>A c.(4792-4794)Gag>Aag p.E1598K NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1598 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CGAGAGGATGGAGGCCTGTTT 0.507000 71 152 0 0 0.003610 0 0 OR4K14 122740 broad.mit.edu 37 14 20482729 20482729 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20482729G>C ENST00000305045.2 - 1 623 c.624C>G c.(622-624)tcC>tcG p.S208S NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AACAGCTCAAGGAAAGCAACC 0.502000 13 32 0 0 0.002450 0 0 NXPE1 120400 broad.mit.edu 37 11 114401134 114401134 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:114401134C>T ENST00000536312.1 - 6 1488 c.596G>A c.(595-597)gGc>gAc p.G199D NXPE1_ENST00000251921.2_Missense_Mutation_p.G57D|NXPE1_ENST00000424269.1_Missense_Mutation_p.G199D neurexophilin and PC-esterase domain family, member 1 TTTATCATAGCCTTGGTTCCT 0.498000 21 61 0 0 0.001216 0 0 ADCY2 108 broad.mit.edu 37 5 7789793 7789793 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:7789793C>A ENST00000338316.4 + 20 2597 c.2508C>A c.(2506-2508)aaC>aaA p.N836K ADCY2_ENST00000537121.1_Missense_Mutation_p.N656K NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 836 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TATGGAAGAACAAATTCAAAA 0.483000 26 93 2.12542e-12 4.31315e-12 0.001061 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656936 40656936 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:40656936G>T ENST00000406785.1 - 2 674 c.485C>A c.(484-486)aCt>aAt p.T162N SLC8A1_ENST00000406391.2_Missense_Mutation_p.T162N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T162N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T162N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T162N P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 162 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GTCTCCTGCAGTGAAGTTATG 0.468000 20 57 1.56452e-12 3.17814e-12 0.000958 1 0 OVCH1 341350 broad.mit.edu 37 12 29631793 29631793 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:29631793T>C ENST00000318184.5 - 9 1043 c.1044A>G c.(1042-1044)ttA>ttG p.L348L OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 348 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGCTTGATCGTAAAGATACAT 0.303000 8 25 0 0 0.004482 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896605 151896605 + RNA SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:151896605C>T ENST00000361201.4 - 0 335 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 GCTGGAGGCTCGTGGTTTCCT 0.552000 62 46 0 0 0.003610 0 0 BANK1 55024 broad.mit.edu 37 4 102951361 102951361 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:102951361C>A ENST00000504592.1 + 14 2212 c.1794C>A c.(1792-1794)gcC>gcA p.A598A BANK1_ENST00000428908.1_Silent_p.A480A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000508653.1_Silent_p.A480A|BANK1_ENST00000322953.4_Silent_p.A613A|BANK1_ENST00000444316.2_Silent_p.A583A Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 613 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GACCTCCTGCCCCCACACCCC 0.373000 25 48 6.32553e-13 1.29677e-12 0.004656 1 0 PCDH11Y 83259 broad.mit.edu 37 Y 4924812 4924812 + Translation_Start_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:4924812A>T ENST00000362095.5 + 0 682 PCDH11Y_ENST00000333703.4_Intron NM_032972.2 NP_116754.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGTGTCAATTATGCTAACATC 0.269000 15 11 0 0 0.006122 0 0 RAB7A 7879 broad.mit.edu 37 3 128516832 128516832 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:128516832A>C ENST00000265062.3 + 3 346 c.100A>C c.(100-102)Agc>Cgc p.S34R RAB7A_ENST00000485280.1_Missense_Mutation_p.S34R|RAB7A_ENST00000482525.1_Missense_Mutation_p.S34R NM_004637.5 NP_004628.4 P51149 RAB7A_HUMAN RAB7A, member RAS oncogene family 34 endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(114;0.231) TAAGAAATTCAGCAATCAGTA 0.433000 30 109 0 0 0.001271 0 0 PIK3R4 30849 broad.mit.edu 37 3 130442379 130442379 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:130442379C>G ENST00000356763.3 - 7 2417 c.1860G>C c.(1858-1860)ctG>ctC p.L620L NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 620 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GACCTTGTTGCAGCAGAGGCT 0.408000 29 36 0 0 0.001061 0 0 OR5D16 390144 broad.mit.edu 37 11 55606250 55606250 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55606250C>A ENST00000378396.1 + 1 23 c.23C>A c.(22-24)aCg>aAg p.T8K NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GAGAGAAATACGACATCTGAG 0.413000 22 42 1.36565e-18 3.15403e-18 0.002780 1 0 MEFV 4210 broad.mit.edu 37 16 3306443 3306443 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:3306443T>G ENST00000219596.1 - 1 184 c.145A>C c.(145-147)Agg>Cgg p.R49R MEFV_ENST00000339854.4_Silent_p.R49R|MEFV_ENST00000541159.1_Silent_p.R49R|MEFV_ENST00000536379.1_Silent_p.R49R NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 49 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TTCACCGGCCTGGCTCTCTGG 0.602000 68 85 0 0 0.003610 0 0 DYRK2 8445 broad.mit.edu 37 12 68051900 68051900 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:68051900A>T ENST00000344096.3 + 3 1626 c.1213A>T c.(1213-1215)Atg>Ttg p.M405L DYRK2_ENST00000393555.3_Missense_Mutation_p.M332L NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 405 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) GCCCATTGATATGTGGAGCCT 0.542000 11 30 0 0 0.000673 0 0 ZNF394 84124 broad.mit.edu 37 7 99097390 99097390 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:99097390C>T ENST00000337673.6 - 1 530 c.327G>A c.(325-327)ctG>ctA p.L109L ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Silent_p.L109L NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 109 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGAACTGCTCCAGCACCAGCA 0.672000 5 134 0 0 0.001984 0 0 SLC38A9 153129 broad.mit.edu 37 5 54945036 54945036 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:54945036T>C ENST00000539768.1 - 9 1058 c.1060_splice c.e9+1 p.P353_splice SLC38A9_ENST00000515629.1_Splice_Site_p.P290_splice|SLC38A9_ENST00000416547.2_Splice_Site_p.P229_splice|SLC38A9_ENST00000318672.3_Splice_Site_p.P353_splice|SLC38A9_ENST00000512595.1_Intron|SLC38A9_ENST00000396865.2_Splice_Site_p.P353_splice Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 353 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) AAAGCTCACCTGGTACAAAAA 0.303000 6 12 0 0 0.001168 0 0 MYT1L 23040 broad.mit.edu 37 2 1914014 1914014 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1914014G>A ENST00000399161.2 - 13 2562 c.1815C>T c.(1813-1815)ctC>ctT p.L605L MYT1L_ENST00000428368.2_Silent_p.L603L NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 605 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGGGTACCTGAGCACGCGGT 0.637000 5 37 0 0 0.000602 0 0 ORM2 5005 broad.mit.edu 37 9 117092788 117092788 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:117092788A>T ENST00000431067.2 + 2 225 c.189A>T c.(187-189)caA>caT p.Q63H ORM2_ENST00000412657.1_3'UTR NM_000608.2 NP_000599.1 orosomucoid 2 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 Myeloproliferative disorder(63;0.163) AGGAGATCCAAGCAACCTTCT 0.512000 28 48 0 0 0.002445 0 0 GFRA2 2675 broad.mit.edu 37 8 21560483 21560483 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:21560483G>C ENST00000524240.1 - 7 1702 c.1052C>G c.(1051-1053)gCc>gGc p.A351G GFRA2_ENST00000518077.1_Missense_Mutation_p.A218G|GFRA2_ENST00000517328.1_Missense_Mutation_p.A351G|GFRA2_ENST00000400782.4_Missense_Mutation_p.A246G NM_001495.4 NP_001486.4 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 351 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) GGCCTGGATGGCGTTCCCTGG 0.632000 5 11 0 0 0.001168 0 0 ABCA12 26154 broad.mit.edu 37 2 215976318 215976318 + Splice_Site SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:215976318A>T ENST00000272895.7 - 2 383 c.e2+1 ABCA12_ENST00000412081.1_Splice_Site NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCATTTACTTACAAGTTGGTT 0.294000 19 22 0 0 0.001523 0 0 C20orf85 128602 broad.mit.edu 37 20 56735866 56735866 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:56735866G>T ENST00000371168.3 + 4 463 c.402G>T c.(400-402)caG>caT p.Q134H NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 134 kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) GGCCCAAGCAGGGCGTGCACT 0.597000 11 14 3.07112e-06 5.37379e-06 0.000978 1 0 GTF2IRD1 9569 broad.mit.edu 37 7 73969543 73969543 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:73969543G>T ENST00000476977.1 + 18 3647 c.1956G>T c.(1954-1956)atG>atT p.M652I GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.M684I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.M652I|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.M652I Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 652 M -> V (in dbSNP:rs2301895). nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGCCCATCATGGATAGTCAAG 0.637000 23 57 2.89027e-11 5.74333e-11 0.002299 1 0 ATP6V1C1 528 broad.mit.edu 37 8 104068161 104068161 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:104068161G>A ENST00000395862.3 + 8 797 c.638G>A c.(637-639)aGc>aAc p.S213N ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.S213N|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.S138N|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.S138N NM_001695.4 NP_001686.1 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 213 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) CCAAGGTCTAGCAAGTAAGTA 0.373000 9 30 0 0 0.004482 0 0 OR6K6 128371 broad.mit.edu 37 1 158724824 158724824 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:158724824G>T ENST00000368144.2 + 1 315 c.219G>T c.(217-219)atG>atT p.M73I NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) ACCTAATAATGTTCATTGTCA 0.468000 32 125 1.45844e-13 3.03954e-13 0.002836 1 0 OR52I1 390037 broad.mit.edu 37 11 4615655 4615655 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:4615655C>T ENST00000450052.2 + 2 459 c.459C>T c.(457-459)gcC>gcT p.A153A OR52I1_ENST00000530443.2_Silent_p.A129A Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTATGTAGCCATCTGCAAGC 0.498000 17 34 0 0 0.001216 0 0 ARSI 340075 broad.mit.edu 37 5 149678016 149678016 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:149678016A>G ENST00000328668.7 - 2 1050 c.471T>C c.(469-471)tgT>tgC p.C157C NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 157 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTGGGCAGACACTCCTTCC 0.607000 19 38 0 0 0.001523 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073049 17073049 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:17073049T>A ENST00000359963.3 - 1 651 c.392A>T c.(391-393)cAg>cTg p.Q131L NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 131 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTCCCGGAGCTGCGGGCGAGG 0.652000 15 41 0 0 0.002450 0 0 KRT33B 3884 broad.mit.edu 37 17 39521745 39521745 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:39521745G>T ENST00000251646.3 - 4 698 c.649C>A c.(649-651)Ccc>Acc p.P217T NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 217 Linker 12.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) TCCACAGCGGGAGCAGCGTCC 0.557000 17 49 4.14922e-12 8.34417e-12 0.004007 1 0 MUC16 94025 broad.mit.edu 37 19 9015728 9015728 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9015728C>A ENST00000397910.4 - 29 38298 c.38095G>T c.(38095-38097)Gtg>Ttg p.V12699L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12701 SEA 5. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGAACGGCACCAGGAGAGGG 0.458000 35 113 0.000109025 0.000182193 0.003755 1 0 HAO1 54363 broad.mit.edu 37 20 7915261 7915261 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:7915261C>G ENST00000378789.3 - 2 210 c.159G>C c.(157-159)atG>atC p.M53I NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 53 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CATTCCGGAGCATCCTTGGAT 0.403000 24 54 0 0 0.002299 0 0 SNX19 399979 broad.mit.edu 37 11 130773227 130773227 + Silent SNP T T C rs138603150 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:130773227T>C ENST00000265909.4 - 8 3065 c.2496A>G c.(2494-2496)ctA>ctG p.L832L SNX19_ENST00000528555.1_Silent_p.L212L|SNX19_ENST00000539184.1_Silent_p.L275L|SNX19_ENST00000530356.1_Silent_p.L212L|SNX19_ENST00000545537.1_Silent_p.L72L|SNX19_ENST00000534726.1_Silent_p.L72L|SNX19_ENST00000533318.1_5'UTR NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 832 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) ACTGTTCTGTTAGTAGCAAGA 0.448000 12 34 0 0 0.000978 0 0 RAD50 10111 broad.mit.edu 37 5 131953939 131953939 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:131953939A>T ENST00000378823.3 + 21 3743 c.2925A>T c.(2923-2925)acA>acT p.T975T RAD50_ENST00000265335.6_Silent_p.T1114T NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 1114 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGAGGACAACAGAACTTGTGA 0.318000 Homologous recombination 26 57 0 0 0.003330 0 0 IGHD 3495 broad.mit.edu 37 14 106307453 106307453 + RNA SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:106307453C>T ENST00000390556.2 - 0 584 TCCTTCAGGTCACTGCCCACC 0.657000 6 11 0 0 0.001168 0 0 ASZ1 136991 broad.mit.edu 37 7 117023080 117023080 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:117023080A>T ENST00000284629.2 - 7 834 c.772T>A c.(772-774)Ttg>Atg p.L258M NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 258 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TCTGTTGTCAATATTTTACAA 0.259000 12 46 0 0 0.000978 0 0 ACAP2 23527 broad.mit.edu 37 3 195012437 195012437 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:195012437T>A ENST00000326793.6 - 20 2291 c.2061A>T c.(2059-2061)acA>acT p.T687T NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 687 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 GCAGTTACCCTGTGTGCCCTA 0.403000 19 114 0 0 0.000958 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919319 142919319 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:142919319G>C ENST00000408947.3 + 1 190 c.148G>C c.(148-150)Ggc>Cgc p.G50R AC073342.1_ENST00000595842.1_Silent_p.A14A NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 50 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) GTGGGCCAGGGGCAAAACACT 0.522000 23 66 0 0 0.003330 0 0 CST8 10047 broad.mit.edu 37 20 23476506 23476506 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23476506G>C ENST00000246012.1 + 4 741 c.384G>C c.(382-384)tgG>tgC p.W128C NM_005492.2 NP_005483.1 O60676 CST8_HUMAN cystatin 8 (cystatin-related epididymal specific) 128 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) CACTTCCCTGGAATGGTGAAT 0.358000 26 48 0 0 0.001271 0 0 ENPP1 5167 broad.mit.edu 37 6 132172336 132172336 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:132172336G>T ENST00000360971.2 + 4 505 c.485G>T c.(484-486)aGc>aTc p.S162I NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 162 SMB 2. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTGACCAGAAGCCTCTGTGCC 0.458000 32 61 2.42023e-17 5.45776e-17 0.003271 1 0 CD38 952 broad.mit.edu 37 4 15780186 15780186 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:15780186G>T ENST00000226279.2 + 1 286 c.149G>T c.(148-150)tGg>tTg p.W50L NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 50 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 CGCCAGCAGTGGAGCGGTCCG 0.617000 36 84 2.87052e-16 6.37999e-16 0.005524 1 0 POU2F3 25833 broad.mit.edu 37 11 120180221 120180221 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:120180221C>A ENST00000260264.4 + 10 1034 c.1000C>A c.(1000-1002)Cga>Aga p.R334R POU2F3_ENST00000543440.2_Silent_p.R332R NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 332 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding p.R332*(1) large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GTTCTGCAACCGACGCCAAAA 0.557000 19 41 1.33834e-09 2.57284e-09 0.000958 1 0 LILRA4 23547 broad.mit.edu 37 19 54848235 54848235 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54848235C>A ENST00000291759.4 - 6 1188 c.1132G>T c.(1132-1134)Gct>Tct p.A378S AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 378 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GGGAATTCAGCCTGGTACTTA 0.587000 51 158 1.21353e-23 2.98111e-23 0.003610 1 0 COL11A2 1302 broad.mit.edu 37 6 33146101 33146101 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:33146101C>A ENST00000341947.2 - 20 2029 c.1802G>T c.(1801-1803)gGg>gTg p.G601V COL11A2_ENST00000395197.1_Missense_Mutation_p.G541V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G580V|COL11A2_ENST00000374708.4_Missense_Mutation_p.G515V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G494V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G520V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G554V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G575V NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 601 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCCAGGCAGCCCTCGAGGCCC 0.617000 18 141 4.75885e-15 1.03143e-14 0.004990 1 0 MYT1 4661 broad.mit.edu 37 20 62830234 62830234 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:62830234A>T ENST00000536311.1 + 3 384 c.20A>T c.(19-21)gAc>gTc p.D7V MYT1_ENST00000360149.4_Missense_Mutation_p.D7V|MYT1_ENST00000328439.1_Missense_Mutation_p.D7V Q01538 MYT1_HUMAN myelin transcription factor 1 7 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GAAAATGAAGACAAGCGAGCT 0.557000 11 29 0 0 0.000673 0 0 TRAV29DV5 28653 broad.mit.edu 37 14 22631741 22631741 + RNA SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:22631741T>A ENST00000390458.3 + 0 444 CTGGAGACTCTGCAGTGTACT 0.507000 12 27 0 0 0.000978 0 0 IDH1 3417 broad.mit.edu 37 2 209116227 209116227 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:209116227C>T ENST00000415913.1 - 3 430 c.49G>A c.(49-51)Gaa>Aaa p.E17K IDH1_ENST00000345146.2_Missense_Mutation_p.E17K|IDH1_ENST00000446179.1_Missense_Mutation_p.E17K O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 17 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) CGTGTCATTTCATCTCCTTGC 0.358000 Mis gliobastoma 27 31 0 0 0.001061 0 0 LPPR3 79948 broad.mit.edu 37 19 814685 814685 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:814685G>T ENST00000359894.2 - 6 727 c.664C>A c.(664-666)Ccg>Acg p.P222T LPPR3_ENST00000520876.3_Intron NM_024888.2 NP_079164.1 Q6T4P5 LPPR3_HUMAN 219 integral to membrane phosphatidate phosphatase activity TGAGGGGCCGGACTCACCGAC 0.662000 23 24 2.52088e-20 5.96627e-20 0.002780 1 0 DSCAML1 57453 broad.mit.edu 37 11 117332289 117332289 + Missense_Mutation SNP C C A rs142275732 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:117332289C>A ENST00000321322.6 - 18 3470 c.3469G>T c.(3469-3471)Gtc>Ttc p.V1157F DSCAML1_ENST00000527706.1_Missense_Mutation_p.V887F NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1097 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGGCCCGGACGTTCTCAGGG 0.612000 17 47 2.4624e-09 4.69775e-09 0.001216 1 0 OR5H14 403273 broad.mit.edu 37 3 97868383 97868383 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:97868383G>A ENST00000437310.1 + 1 214 c.154G>A c.(154-156)Gac>Aac p.D52N NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CATCTGGAAAGACCCTCATCT 0.413000 89 425 0 0 0.003610 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405743 106405743 + RNA SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:106405743G>A ENST00000390593.2 - 0 282 TATACCACTTGGACCTGTAGT 0.502000 42 86 0 0 0.002222 0 0 LBP 3929 broad.mit.edu 37 20 36993246 36993246 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:36993246G>A ENST00000217407.2 + 8 922 c.761G>A c.(760-762)cGt>cAt p.R254H NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 254 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) ATCTTTCATCGTAACCACCGT 0.488000 38 61 0 0 0.004289 0 0 MEIS1 4211 broad.mit.edu 37 2 66664968 66664968 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:66664968C>T ENST00000488550.1 + 2 411 c.112C>T c.(112-114)Cac>Tac p.H38Y MEIS1_ENST00000407092.2_Missense_Mutation_p.H38Y|MEIS1_ENST00000444274.2_Missense_Mutation_p.H6Y|MEIS1_ENST00000272369.9_Missense_Mutation_p.H38Y|MEIS1_ENST00000398506.2_Missense_Mutation_p.H36Y|MEIS1_ENST00000560281.2_Missense_Mutation_p.H38Y O00470 MEIS1_HUMAN Meis homeobox 1 38 sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 GCCGGTCCACCACCTGAACCA 0.612000 7 25 0 0 0.004482 0 0 CCK 885 broad.mit.edu 37 3 42304950 42304950 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:42304950A>T ENST00000396169.2 - 4 1078 c.173T>A c.(172-174)cTg>cAg p.L58Q CCK_ENST00000434608.1_Missense_Mutation_p.L58Q|CCK_ENST00000334681.5_Missense_Mutation_p.L58Q NM_000729.4 NP_000720.1 P06307 CCKN_HUMAN cholecystokinin 58 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) CAGGGCGCCCAGGTGCGCTCG 0.672000 32 58 0 0 0.003755 0 0 MYT1L 23040 broad.mit.edu 37 2 1890319 1890319 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1890319T>A ENST00000399161.2 - 18 3450 c.2703A>T c.(2701-2703)caA>caT p.Q901H MYT1L_ENST00000428368.2_Missense_Mutation_p.Q899H NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 901 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACTTGAGTTCTTGGGAGCTGG 0.433000 18 42 0 0 0.006122 0 0 PCDH17 27253 broad.mit.edu 37 13 58208540 58208540 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:58208540C>A ENST00000377918.3 + 1 1886 c.1860C>A c.(1858-1860)agC>agA p.S620R NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 620 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCGGCGAGAGCGGGCGTCTCA 0.662000 28 34 1.77063e-15 3.87531e-15 0.005443 1 0 WNT8A 7478 broad.mit.edu 37 5 137419813 137419813 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:137419813G>C ENST00000398754.1 + 1 40 c.35G>C c.(34-36)gGc>gCc p.G12A WNT8A_ENST00000506684.1_5'UTR NM_058244.2 NP_490645.1 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 12 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCAGCTCTGGGCATATGCTGT 0.587000 13 38 0 0 0.002450 0 0 FBXO10 26267 broad.mit.edu 37 9 37531943 37531943 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:37531943C>G ENST00000432825.2 - 4 1580 c.1532G>C c.(1531-1533)gGt>gCt p.G511A RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.G36A NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 511 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GATGTCTACACCAGCCTCTGC 0.493000 12 42 0 0 0.001368 0 0 ZNF705B 100132396 broad.mit.edu 37 8 7806693 7806693 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:7806693G>T ENST00000443676.1 + 3 171 c.55G>T c.(55-57)Gaa>Taa p.E19* ZNF705B_ENST00000400120.3_Nonsense_Mutation_p.E19* P0CI00 Z705L_HUMAN zinc finger protein 705B 19 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(2)|lung(2) 4 CTTCACCCAGGAAGAGTGGGA 0.423000 44 46 2.81731e-22 6.82067e-22 0.003610 1 0 CDH11 1009 broad.mit.edu 37 16 65016141 65016141 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:65016141C>T ENST00000394156.3 - 8 1516 c.1063G>A c.(1063-1065)Gac>Aac p.D355N CDH11_ENST00000268603.4_Missense_Mutation_p.D355N|CDH11_ENST00000566827.1_Missense_Mutation_p.D229N P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 355 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AACTTCGGGTCGATGTGCACG 0.468000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 19 22 0 0 0.001216 0 0 RUSC2 9853 broad.mit.edu 37 9 35557972 35557972 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35557972G>T ENST00000455600.1 + 6 3614 c.3045G>T c.(3043-3045)cgG>cgT p.R1015R NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1015 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GCACAAGCCGGGATCCCGGGG 0.557000 24 73 3.80469e-20 8.98355e-20 0.001786 1 0 PRKCG 5582 broad.mit.edu 37 19 54403889 54403889 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54403889G>A ENST00000263431.3 + 14 1743 c.1461G>A c.(1459-1461)atG>atA p.M487I PRKCG_ENST00000540413.1_Missense_Mutation_p.M487I|PRKCG_ENST00000542049.1_Missense_Mutation_p.M374I NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 487 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACAATGTGATGCTGGATGCTG 0.542000 70 129 0 0 0.003610 0 0 ELL2 22936 broad.mit.edu 37 5 95234300 95234300 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:95234300T>A ENST00000237853.4 - 8 1518 c.1169A>T c.(1168-1170)cAg>cTg p.Q390L ELL2_ENST00000431061.2_Splice_Site NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 390 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) ATTTACAATCTGAGGAGGATG 0.537000 38 79 0 0 0.004289 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21349914 21349914 + Nonsense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:21349914G>A ENST00000256958.2 + 8 858 c.762G>A c.(760-762)tgG>tgA p.W254* NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 254 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ATTCTCGATGGGTTGGAGCTT 0.358000 40 96 0 0 0.001706 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606419 84606419 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:84606419G>T ENST00000344803.2 + 4 1081 c.1034G>T c.(1033-1035)gGc>gTc p.G345V NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ACAATCAAAGGCATTGACCAT 0.458000 39 84 1.07121e-22 2.61229e-22 0.001485 1 0 CAPN13 92291 broad.mit.edu 37 2 30959385 30959385 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:30959385C>G ENST00000295055.8 - 18 1882 c.1706G>C c.(1705-1707)cGc>cCc p.R569P CAPN13_ENST00000534090.2_Missense_Mutation_p.R569P NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 569 EF-hand 1. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.R569H(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GTGAACAAGGCGCTTCCACAG 0.532000 23 46 0 0 0.003330 0 0 LVRN 206338 broad.mit.edu 37 5 115336169 115336169 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:115336169G>T ENST00000357872.4 + 8 1679 c.1555G>T c.(1555-1557)Gag>Tag p.E519* AQPEP_ENST00000395528.2_Nonsense_Mutation_p.E36* NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 519 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TTTCTTGAATGAGCATTTATT 0.378000 30 87 9.65963e-10 1.86952e-09 0.003271 1 0 C2CD5 9847 broad.mit.edu 37 12 22680700 22680700 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:22680700C>A ENST00000333957.4 - 4 559 c.304G>T c.(304-306)Gca>Tca p.A102S C2CD5_ENST00000536386.1_Missense_Mutation_p.A102S|C2CD5_ENST00000545552.1_Missense_Mutation_p.A102S|C2CD5_ENST00000542676.1_Missense_Mutation_p.A102S|C2CD5_ENST00000446597.1_Missense_Mutation_p.A102S|C2CD5_ENST00000396028.2_Missense_Mutation_p.A102S|C2CD5_ENST00000544930.1_5'UTR NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 ATGACTGTTGCAGCTTCACTA 0.323000 23 67 2.79863e-10 5.46387e-10 0.004656 1 0 NIPAL4 348938 broad.mit.edu 37 5 156899365 156899365 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:156899365G>A ENST00000311946.7 + 6 914 c.798G>A c.(796-798)ctG>ctA p.L266L NIPAL4_ENST00000435489.2_Silent_p.L247L|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 266 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CTGTGCTTCTGCTGGTGTCAT 0.527000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 150 0 0 0.003610 0 0 CIITA 4261 broad.mit.edu 37 16 10971201 10971201 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:10971201C>T ENST00000324288.8 + 1 147 c.14C>T c.(13-15)gCt>gTt p.A5V CIITA_ENST00000381835.5_Missense_Mutation_p.A5V|RP11-876N24.2_ENST00000573071.1_RNA|CIITA_ENST00000537380.1_3'UTR|RP11-876N24.2_ENST00000572017.1_RNA NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 5 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CGTTGCCTGGCTCCACGCCCT 0.602000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 6 13 0 0 0.001984 0 0 REG1P 5969 broad.mit.edu 37 2 79363902 79363902 + RNA SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:79363902T>G ENST00000444841.1 - 0 436 AGGTAGAAGATGCAGCAGACT 0.473000 3 15 0 0 0.004672 0 0 DNAH9 1770 broad.mit.edu 37 17 11648295 11648295 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:11648295T>A ENST00000262442.3 + 31 6361 c.6293T>A c.(6292-6294)tTt>tAt p.F2098Y DNAH9_ENST00000454412.2_Missense_Mutation_p.F2098Y NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2098 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) GGGGACCTCTTTCCCGCCCTG 0.562000 18 49 0 0 0.004990 0 0 PLAGL1 5325 broad.mit.edu 37 6 144263314 144263314 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:144263314T>C ENST00000360537.2 - 5 2552 c.639A>G c.(637-639)aaA>aaG p.K213K PLAGL1_ENST00000444202.1_Silent_p.K213K|PLAGL1_ENST00000429150.1_Silent_p.K213K|PLAGL1_ENST00000392309.1_Silent_p.K213K|PLAGL1_ENST00000367572.1_Silent_p.K161K|PLAGL1_ENST00000354765.2_Silent_p.K213K|PLAGL1_ENST00000392307.1_Silent_p.K161K|PLAGL1_ENST00000416623.1_Silent_p.K213K|PLAGL1_ENST00000367571.1_Silent_p.K213K|PLAGL1_ENST00000437412.1_Silent_p.K161K Q9UM63 PLAL1_HUMAN pleiomorphic adenoma gene-like 1 213 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2) 13 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) GCAAGCTCTCTTTCATCAGCT 0.547000 OREG0017707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 107 0 0 0.003214 0 0 ZNF25 219749 broad.mit.edu 37 10 38242024 38242024 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:38242024T>A ENST00000302609.7 - 6 614 c.402A>T c.(400-402)atA>atT p.I134I ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) GCTGATGTACTATGAGGGCAG 0.398000 43 107 0 0 0.002522 0 0 CDH6 1004 broad.mit.edu 37 5 31323216 31323216 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:31323216C>A ENST00000265071.2 + 12 2439 c.2174C>A c.(2173-2175)aCg>aAg p.T725K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 725 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.T725K(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GAAAATGACACGGACCCCACT 0.562000 13 35 0.00010058 0.00016822 0.001368 1 0 NAV3 89795 broad.mit.edu 37 12 78400500 78400500 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:78400500G>C ENST00000397909.2 + 8 1355 c.1182G>C c.(1180-1182)cgG>cgC p.R394R NAV3_ENST00000266692.7_Silent_p.R394R|NAV3_ENST00000536525.2_Silent_p.R394R|NAV3_ENST00000228327.6_Silent_p.R394R Q8IVL0 NAV3_HUMAN neuron navigator 3 394 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCAATGCCCGGACTGCTTTAC 0.498000 HNSCC(70;0.22) 25 69 0 0 0.003954 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176072481 176072481 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:176072481G>A ENST00000318682.6 + 8 1162 c.578G>A c.(577-579)aGg>aAg p.R193K EIF4E1B_ENST00000504597.1_Missense_Mutation_p.R193K|EIF4E1B_ENST00000512734.1_3'UTR NM_001099408.1 NP_001092878.1 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E family member 1B 193 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity breast(1)|large_intestine(1)|lung(2)|pancreas(1) 5 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGTGGACGAGGGAGGCGGAA 0.622000 13 29 0 0 0.001855 0 0 PGGT1B 5229 broad.mit.edu 37 5 114573587 114573587 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:114573587C>G ENST00000419445.1 - 4 467 c.447G>C c.(445-447)gcG>gcC p.A149A PGGT1B_ENST00000379615.3_Silent_p.A149A NM_005023.3 NP_005014.2 P53609 PGTB1_HUMAN protein geranylgeranyltransferase type I, beta subunit 149 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) CTCTCAAGCCCGCTAAGCAAG 0.388000 26 75 0 0 0.001061 0 0 CAPS2 84698 broad.mit.edu 37 12 75687068 75687068 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:75687068C>A ENST00000393284.3 - 12 1086 c.485G>T c.(484-486)cGa>cTa p.R162L CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409445.3_Missense_Mutation_p.R394L|CAPS2_ENST00000409799.1_Missense_Mutation_p.R312L Q9BXY5 CAYP2_HUMAN calcyphosine 2 394 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 ATTTGTGATTCGGAGTTTAAG 0.318000 19 52 5.3912e-06 9.37621e-06 0.006122 1 0 CNTRL 11064 broad.mit.edu 37 9 123875817 123875817 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:123875817A>G ENST00000373855.1 + 10 1420 c.1160A>G c.(1159-1161)tAc>tGc p.Y387C CNTRL_ENST00000238341.5_Missense_Mutation_p.Y387C|CNTRL_ENST00000373865.2_Missense_Mutation_p.Y387C Q7Z7A1 CNTRL_HUMAN centriolin 387 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GAAAGCCCTTACATTGGCAAA 0.358000 26 64 0 0 0.004656 0 0 BTNL3 10917 broad.mit.edu 37 5 180424227 180424227 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:180424227C>G ENST00000342868.6 + 3 596 c.412C>G c.(412-414)Cct>Gct p.P138A NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 138 Ig-like V-type. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GGGCTCACTTCCTCTCATTTC 0.498000 39 128 0 0 0.002852 0 0 C7orf10 79783 broad.mit.edu 37 7 40234623 40234623 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:40234623G>C ENST00000309930.5 + 6 493 c.469G>C c.(469-471)Gag>Cag p.E157Q C7orf10_ENST00000401647.2_Missense_Mutation_p.E157Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.E157Q|C7orf10_ENST00000540834.1_Missense_Mutation_p.E150Q NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 157 transferase activity p.E157*(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 AGATATAGACGAGATTGCTCC 0.428000 44 138 0 0 0.003610 0 0 PTPRN2 5799 broad.mit.edu 37 7 158334258 158334258 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:158334258G>A ENST00000404321.2 - 1 40 c.41C>T c.(40-42)gCc>gTc p.A14V PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000389418.4_Intron Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 0 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGGAAAGCTGGCTTCGGTTCT 0.483000 33 67 0 0 0.002836 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89246986 89246986 + RNA SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:89246986G>T ENST00000496168.1 - 0 364 GCTTTCCCTGGTTTCTGCTGA 0.522000 41 101 5.71845e-15 1.23541e-14 0.005524 1 0 TP53 7157 broad.mit.edu 37 17 7577138 7577138 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:7577138C>G ENST00000420246.2 - 8 932 c.800G>C c.(799-801)cGg>cCg p.R267P TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000269305.4_Missense_Mutation_p.R267P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000359597.4_Missense_Mutation_p.R267P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 267 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAAGCTGTTCCGTCCCAGTAG 0.527000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 17 0 0 0.001882 0 0 PRR5 55615 broad.mit.edu 37 22 45132772 45132772 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:45132772C>A ENST00000403581.1 + 10 1490 c.881C>A c.(880-882)gCg>gAg p.A294E PRR5_ENST00000336985.6_Missense_Mutation_p.A271E|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) GCGGAGGGCGCGGCGGCCGGC 0.711000 13 39 1.5842e-08 2.96042e-08 0.001855 1 0 TNN 63923 broad.mit.edu 37 1 175054604 175054604 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:175054604A>G ENST00000239462.4 + 6 1411 c.1298A>G c.(1297-1299)aAg>aGg p.K433R NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 433 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGGAGGGCAAGCCGATCCTC 0.532000 6 16 0 0 0.001984 0 0 POLE 5426 broad.mit.edu 37 12 133257867 133257867 + Splice_Site SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133257867T>A ENST00000320574.5 - 2 106 c.e2-2 POLE_ENST00000535270.1_Splice_Site NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCATCATCCCTGAGTGAAAGA 0.473000 DNA polymerases (catalytic subunits) 35 82 0 0 0.003271 0 0 ARAP3 64411 broad.mit.edu 37 5 141059771 141059771 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:141059771C>A ENST00000239440.4 - 2 348 c.283G>T c.(283-285)Gtg>Ttg p.V95L ARAP3_ENST00000508305.1_Missense_Mutation_p.V17L NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 95 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GGCTTCGGCACGGGCTTAGGG 0.657000 22 73 7.41877e-09 1.39415e-08 0.001882 1 0 AKAP12 9590 broad.mit.edu 37 6 151670376 151670376 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:151670376C>A ENST00000402676.2 + 4 1090 c.850C>A c.(850-852)Ccg>Acg p.P284T AKAP12_ENST00000253332.1_Missense_Mutation_p.P284T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P179T|AKAP12_ENST00000354675.6_Missense_Mutation_p.P186T NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 284 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TGCAGAATCTCCGACTAGTCC 0.483000 16 33 2.31682e-05 3.9439e-05 0.003163 1 0 OR2AK2 391191 broad.mit.edu 37 1 248129117 248129117 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248129117T>A ENST00000366480.3 + 1 583 c.484T>A c.(484-486)Tgt>Agt p.C162S OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CATGGTTGCATGTGCATGGGC 0.413000 111 148 0 0 0.003610 0 0 SLC18B1 116843 broad.mit.edu 37 6 133110904 133110904 + Splice_Site SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:133110904C>G ENST00000275227.4 - 4 448 c.353_splice c.e4+1 p.G118_splice SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Splice_Site_p.W41_splice NM_052831.2 NP_439896.1 Q6NT16 CF192_HUMAN solute carrier family 18, subfamily B, member 1 118 transmembrane transport integral to membrane ATGACTTACCCAAAGAGAATT 0.308000 26 72 0 0 0.001061 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608809 84608809 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:84608809G>T ENST00000344803.2 + 4 3471 c.3424G>T c.(3424-3426)Ggc>Tgc p.G1142C NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CAGGCTTCAGGGCAGTAGAAA 0.468000 21 30 1.00905e-13 2.10954e-13 0.001216 1 0 FAM174A 345757 broad.mit.edu 37 5 99871504 99871504 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:99871504G>T ENST00000312637.4 + 1 496 c.270G>T c.(268-270)ggG>ggT p.G90G NM_198507.1 NP_940909.1 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 90 integral to membrane breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CTGTGGCCGGGCTTGAGACGG 0.726000 7 13 8.12818e-05 0.000136171 0.001984 1 0 INPP4A 3631 broad.mit.edu 37 2 99179952 99179952 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:99179952C>T ENST00000074304.5 + 19 2288 c.1895C>T c.(1894-1896)cCg>cTg p.P632L INPP4A_ENST00000545415.1_Missense_Mutation_p.P593L|INPP4A_ENST00000523221.1_Missense_Mutation_p.P632L|INPP4A_ENST00000409851.3_Missense_Mutation_p.P627L|INPP4A_ENST00000409540.3_Missense_Mutation_p.P593L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.P593L NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 632 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GCCCTTTACCCGCTGCTGACC 0.532000 9 29 0 0 0.004482 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99124011 99124011 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:99124011A>C ENST00000394170.2 + 6 1599 c.1348A>C c.(1348-1350)Aaa>Caa p.K450Q ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.K450Q|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.K450Q NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 450 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CGAACACCTAAAACGCCACTT 0.502000 79 190 0 0 0.003610 0 0 GSS 2937 broad.mit.edu 37 20 33519801 33519801 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:33519801G>T ENST00000216951.2 - 10 1068 c.970C>A c.(970-972)Cag>Aag p.Q324K GSS_ENST00000451957.2_Missense_Mutation_p.Q213K|GSS_ENST00000541098.1_Missense_Mutation_p.Q196K NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 324 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) GCCTCAGGCTGGCCAGGGAGC 0.632000 51 72 1.35964e-18 3.14377e-18 0.003610 1 0 UTP18 51096 broad.mit.edu 37 17 49353297 49353297 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:49353297C>A ENST00000225298.7 + 6 839 c.782C>A c.(781-783)cCc>cAc p.P261H NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 261 rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) CAGTTCCATCCCGGTGCACAG 0.383000 14 21 2.32078e-09 4.44448e-09 0.003163 1 0 CACNA1A 773 broad.mit.edu 37 19 13340911 13340911 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:13340911T>C ENST00000360228.5 - 36 5512 c.5513A>G c.(5512-5514)tAt>tGt p.Y1838C CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y1839C NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1839 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGCGGGGTCATACTCGGCCCA 0.587000 9 13 0 0 0.000443 0 0 TSPY2 64591 broad.mit.edu 37 Y 6114391 6114391 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:6114391G>T ENST00000320701.4 + 1 128 c.82G>T c.(82-84)Gcc>Tcc p.A28S TSPY2_ENST00000383042.1_Missense_Mutation_p.A28S NM_022573.2 NP_072095.2 A6NKD2 TSPY2_HUMAN testis specific protein, Y-linked 2 28 cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus liver(1)|lung(4)|prostate(1)|skin(1) 7 GGCAGCACAGGCCTTGGTGTG 0.711000 15 9 2.48551e-13 5.13211e-13 0.004990 1 0 EFTUD2 9343 broad.mit.edu 37 17 42931930 42931930 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:42931930G>A ENST00000426333.2 - 22 2550 c.2253C>T c.(2251-2253)ccC>ccT p.P751P EFTUD2_ENST00000592576.1_Silent_p.P741P|EFTUD2_ENST00000591382.1_Silent_p.P751P|EFTUD2_ENST00000402521.3_Silent_p.P716P 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 2 751 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) GTACCTCAGAGGGCAGAGTAT 0.522000 26 101 0 0 0.001271 0 0 CKAP5 9793 broad.mit.edu 37 11 46822845 46822845 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:46822845T>C ENST00000529230.1 - 9 1034 c.988A>G c.(988-990)Aag>Gag p.K330E CKAP5_ENST00000312055.5_Missense_Mutation_p.K330E|CKAP5_ENST00000354558.3_Missense_Mutation_p.K330E|CKAP5_ENST00000532321.1_5'UTR|CKAP5_ENST00000415402.1_Missense_Mutation_p.K330E Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 330 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TTGGTGTCCTTTCCAACAACC 0.428000 16 33 0 0 0.004990 0 0 ATRNL1 26033 broad.mit.edu 37 10 117075142 117075142 + Missense_Mutation SNP G G A rs140980345 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:117075142G>A ENST00000355044.3 + 18 3059 c.2933G>A c.(2932-2934)cGg>cAg p.R978Q ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.R75Q NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 978 PSI 5. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GGTTCTTCACGGGGACCAATG 0.458000 27 67 0 0 0.001061 0 0 MROH9 80133 broad.mit.edu 37 1 170961417 170961417 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:170961417G>A ENST00000367759.4 + 12 1295 c.1141G>A c.(1141-1143)Gta>Ata p.V381I MROH9_ENST00000367758.3_Missense_Mutation_p.V381I NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 p.V381I(1) GGAGGACACCGTAACGGAAGG 0.473000 17 75 0 0 0.004990 0 0 SFRP4 6424 broad.mit.edu 37 7 37951857 37951857 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:37951857C>A ENST00000436072.2 - 4 1032 c.655G>T c.(655-657)Gat>Tat p.D219Y EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 219 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TCTTTTACATCCACCACCGTT 0.433000 18 47 2.48551e-13 5.13211e-13 0.004990 1 0 KDM5D 8284 broad.mit.edu 37 Y 21869833 21869833 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:21869833T>A ENST00000541639.1 - 24 3766 c.3479A>T c.(3478-3480)gAc>gTc p.D1160V KDM5D_ENST00000382806.2_Missense_Mutation_p.D1072V|KDM5D_ENST00000317961.4_Missense_Mutation_p.D1129V NM_001146705.1 NP_001140177.1 Q9BY66 KDM5D_HUMAN lysine (K)-specific demethylase 5D 1129 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) AGAGCCTGGGTCTCTGAGGTC 0.577000 12 11 0 0 0.001855 0 0 TRIM51 84767 broad.mit.edu 37 11 55653181 55653181 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55653181T>C ENST00000449290.2 + 2 369 c.277T>C c.(277-279)Tgt>Cgt p.C93R NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 93 intracellular zinc ion binding GGAGCAAATATGTGGGATGCA 0.488000 5 44 0 0 0.001168 0 0 FANCM 57697 broad.mit.edu 37 14 45669148 45669148 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:45669148T>C ENST00000267430.5 + 23 6169 c.6084T>C c.(6082-6084)taT>taC p.Y2028Y FANCM_ENST00000542564.2_Silent_p.Y2002Y NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 2028 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 ATATTCACTATGTATTTGACA 0.338000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 23 56 0 0 0.002299 0 0 KMT2A 4297 broad.mit.edu 37 11 118347536 118347536 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:118347536C>A ENST00000534358.1 + 4 3196 c.3173C>A c.(3172-3174)tCa>tAa p.S1058* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.S1058*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S1058* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.S1058*(1) GAAAGTGACTCATCAGAGACC 0.438000 21 62 4.63292e-17 1.03891e-16 0.001216 1 0 ZNF10 7556 broad.mit.edu 37 12 133732562 133732562 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133732562G>A ENST00000248211.6 + 5 952 c.730G>A c.(730-732)Gac>Aac p.D244N ZNF10_ENST00000426665.2_Missense_Mutation_p.D244N|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 244 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CCCTGATAATGACAACTCTCT 0.378000 12 27 0 0 0.001368 0 0 SNAP91 9892 broad.mit.edu 37 6 84350842 84350842 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:84350842T>C ENST00000428679.2 - 8 1331 c.738A>G c.(736-738)cgA>cgG p.R246R SNAP91_ENST00000439399.2_Silent_p.R246R|SNAP91_ENST00000521485.1_Silent_p.R246R|SNAP91_ENST00000521743.1_Silent_p.R246R|SNAP91_ENST00000369694.2_Silent_p.R246R|SNAP91_ENST00000520302.1_Silent_p.R246R|SNAP91_ENST00000195649.6_Silent_p.R246R|SNAP91_ENST00000437520.1_Silent_p.R246R|SNAP91_ENST00000520213.1_Silent_p.R246R O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 246 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) ATTCAGACACTCGTGTCATTC 0.279000 5 4 0 0 0.001168 0 0 DPYD 1806 broad.mit.edu 37 1 97700482 97700482 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:97700482T>A ENST00000370192.3 - 19 2468 c.2368A>T c.(2368-2370)Att>Ttt p.I790F DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 790 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GTAGCCAAAATGGGAAATCCA 0.463000 39 27 0 0 0.004878 0 0 NCAPH 23397 broad.mit.edu 37 2 97008569 97008569 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:97008569G>C ENST00000455200.1 + 4 701 c.406G>C c.(406-408)Gaa>Caa p.E136Q NCAPH_ENST00000427946.1_Missense_Mutation_p.E11Q|NCAPH_ENST00000240423.4_Missense_Mutation_p.E147Q Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 147 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) GAAAGACACCGAACCAACCAA 0.353000 14 37 0 0 0.003163 0 0 LILRB1 10859 broad.mit.edu 37 19 55146717 55146717 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:55146717C>A ENST00000396331.1 + 13 1924 c.1567C>A c.(1567-1569)Cca>Aca p.P523T LILRB1_ENST00000396315.1_Missense_Mutation_p.P524T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P524T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P523T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P507T|LILRB1_ENST00000448689.1_Silent_p.A497A|LILRB1_ENST00000324602.7_Missense_Mutation_p.P524T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P507T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P523T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P523T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.P573T NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 523 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAGGTCCAGCCCAGCTGCCGA 0.607000 HNSCC(37;0.09) 15 77 0.000422831 0.000697881 0.004007 1 0 RFX1 5989 broad.mit.edu 37 19 14094399 14094399 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:14094399T>G ENST00000254325.4 - 3 562 c.328A>C c.(328-330)Atg>Ctg p.M110L NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 110 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CTGGCCCGCATGGCACCTTCT 0.672000 3 10 0 0 0.004672 0 0 DMWD 1762 broad.mit.edu 37 19 46290016 46290016 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:46290016G>A ENST00000270223.6 - 3 783 c.738C>T c.(736-738)ccC>ccT p.P246P DMWD_ENST00000377735.3_Silent_p.P246P NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 246 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CCGAGGCGCAGGGGTGGCTGA 0.627000 22 43 0 0 0.002299 0 0 ORC4 5000 broad.mit.edu 37 2 148696734 148696734 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:148696734C>A ENST00000535373.1 - 12 1365 c.933G>T c.(931-933)atG>atT p.M311I ORC4_ENST00000392857.4_Missense_Mutation_p.M311I|ORC4_ENST00000264169.2_Missense_Mutation_p.M311I|ORC4_ENST00000536575.1_Missense_Mutation_p.M227I|ORC4_ENST00000542387.1_Missense_Mutation_p.M94I|ORC4_ENST00000540442.1_Missense_Mutation_p.M237I|ORC4_ENST00000392858.1_Missense_Mutation_p.M311I NM_001190879.2 NP_001177808.1 O43929 ORC4_HUMAN origin recognition complex, subunit 4 311 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 14 CTTTCGAGTCCATGCTACACA 0.358000 14 31 2.32078e-09 4.44448e-09 0.003163 1 0 NEBL 10529 broad.mit.edu 37 10 21108419 21108419 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:21108419C>T ENST00000377122.4 - 20 2385 c.1989G>A c.(1987-1989)aaG>aaA p.K663K NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 663 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCGGAGTGGCCTTGTAGTTTT 0.438000 32 104 0 0 0.002096 0 0 TNFSF18 8995 broad.mit.edu 37 1 173010716 173010716 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:173010716C>T ENST00000404377.3 - 3 391 c.391G>A c.(391-393)Gat>Aat p.D131N RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.D109N NM_005092.3 NP_005083.2 Q9UNG2 TNF18_HUMAN tumor necrosis factor (ligand) superfamily, member 18 131 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 GGAGCTACATCATTGTAGTTT 0.383000 40 92 0 0 0.001287 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923416 9923416 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:9923416C>G ENST00000396573.2 - 10 2180 c.1871G>C c.(1870-1872)gGg>gCg p.G624A GRIN2A_ENST00000404927.2_Missense_Mutation_p.G624A|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G624A|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G624A|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G467A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G624A NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 624 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCTGGTGGTCCCTTTAGGATT 0.493000 18 85 0 0 0.001523 0 0 SSTR4 6754 broad.mit.edu 37 20 23017238 23017238 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23017238C>A ENST00000255008.3 + 1 1182 c.1118C>A c.(1117-1119)cCa>cAa p.P373Q RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 373 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.P373Q(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCCCTGCAACCAGAACCCGGC 0.667000 24 59 1.04121e-07 1.91016e-07 0.005443 1 0 SYCP1 6847 broad.mit.edu 37 1 115527424 115527424 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:115527424A>T ENST00000369522.3 + 30 2878 c.2638A>T c.(2638-2640)Aaa>Taa p.K880* SYCP1_ENST00000369518.1_Nonsense_Mutation_p.K880*|SYCP1_ENST00000477590.1_Intron NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 880 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAAAGTAAAAAAAAGAGAAA 0.259000 31 66 0 0 0.003755 0 0 PTPRM 5797 broad.mit.edu 37 18 8379247 8379247 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:8379247G>T ENST00000332175.8 + 26 4693 c.3656G>T c.(3655-3657)tGc>tTc p.C1219F PTPRM_ENST00000400060.4_Missense_Mutation_p.C1233F|PTPRM_ENST00000444013.1_Missense_Mutation_p.C1006F|PTPRM_ENST00000580170.1_Missense_Mutation_p.C1232F|PTPRM_ENST00000400053.4_Missense_Mutation_p.C1157F NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1219 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) AAAAACCGGTGCATGGACATC 0.567000 35 153 1.07637e-12 2.19986e-12 0.004878 1 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36352507 36352507 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:36352507G>A ENST00000312412.4 - 11 1279 c.1280C>T c.(1279-1281)tCt>tTt p.S427F RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.S272F|TBC1D3_ENST00000537432.1_5'UTR kidney(1)|lung(3) 4 ATCAACCTCAGATGGATGGCC 0.403000 7 26 0 0 0.004482 0 0 SELL 6402 broad.mit.edu 37 1 169673747 169673747 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:169673747G>T ENST00000236147.4 - 5 927 c.767C>A c.(766-768)cCa>cAa p.P256Q C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 243 Sushi 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) GTTTCCAAATGGTCCACAGGT 0.463000 3 3 0.004672 0.00755576 0.004672 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433878 73433878 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:73433878C>A ENST00000263666.4 - 10 1953 c.1839G>T c.(1837-1839)ttG>ttT p.L613F PDZRN3_ENST00000462146.2_Missense_Mutation_p.L270F|PDZRN3_ENST00000479530.1_Missense_Mutation_p.L330F|PDZRN3_ENST00000466780.1_Missense_Mutation_p.L270F|PDZRN3_ENST00000535920.1_Missense_Mutation_p.L335F NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 613 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGCCGCTGCCCAAGGTGTCCT 0.647000 25 36 3.01185e-09 5.70262e-09 0.003954 1 0 TRPM3 80036 broad.mit.edu 37 9 73240414 73240414 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:73240414C>A ENST00000377105.1 - 13 1547 c.1193G>T c.(1192-1194)gGt>gTt p.G398V TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.G398V|TRPM3_ENST00000357533.2_Missense_Mutation_p.G553V|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.G398V|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000377106.1_Intron NM_024971.5|NM_206945.3 NP_079247.5|NP_996828.3 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 569 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ATAGATCCAACCGAAACCTGG 0.284000 13 28 2.32078e-09 4.44448e-09 0.003163 1 0 TLE2 7089 broad.mit.edu 37 19 3015720 3015720 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:3015720C>G ENST00000262953.6 - 9 871 c.609G>C c.(607-609)gaG>gaC p.E203D TLE2_ENST00000590536.1_Missense_Mutation_p.E204D|TLE2_ENST00000591529.1_Missense_Mutation_p.E217D|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000443826.3_Missense_Mutation_p.E81D|TLE2_ENST00000455444.2_Missense_Mutation_p.E81D|TLE2_ENST00000426948.2_Missense_Mutation_p.E217D|TLE2_ENST00000586422.1_Intron NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 203 CCN domain. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGGTCGCTCCTCCTCCACGA 0.632000 8 12 0 0 0.000978 0 0 IGSF3 3321 broad.mit.edu 37 1 117142746 117142746 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:117142746G>C ENST00000369486.3 - 7 2611 c.1846C>G c.(1846-1848)Cga>Gga p.R616G IGSF3_ENST00000369483.1_Missense_Mutation_p.R636G|IGSF3_ENST00000318837.6_Missense_Mutation_p.R636G NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 616 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ATGGCAGTTCGGGTTCGGAAG 0.627000 10 20 0 0 0.000443 0 0 TYK2 7297 broad.mit.edu 37 19 10475629 10475629 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:10475629C>T ENST00000525621.1 - 8 1588 c.1107G>A c.(1105-1107)ccG>ccA p.P369P TYK2_ENST00000529370.1_Silent_p.P369P|TYK2_ENST00000524462.1_Silent_p.P184P|TYK2_ENST00000264818.6_Silent_p.P369P NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 369 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GTGGCTCCCGCGGCCTGTCTG 0.617000 20 43 0 0 0.001523 0 0 KMT2D 8085 broad.mit.edu 37 12 49447314 49447314 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:49447314C>T ENST00000301067.7 - 6 783 c.784G>A c.(784-786)Gcc>Acc p.A262T NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.L260fs*8(1) CGTTTGCGGGCAGTCAGAGCA 0.582000 5 11 0 0 0.000602 0 0 WFS1 7466 broad.mit.edu 37 4 6296916 6296916 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:6296916G>T ENST00000226760.1 + 7 1031 c.861_splice c.e7+1 p.K287_splice WFS1_ENST00000503569.1_Splice_Site_p.K287_splice NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 287 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) TGCGTCTGAAGGTGAGTGACC 0.657000 24 45 3.80469e-20 8.98355e-20 0.001786 1 0 MUC6 4588 broad.mit.edu 37 11 1017714 1017714 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:1017714G>T ENST00000421673.2 - 31 5137 c.5087C>A c.(5086-5088)tCa>tAa p.S1696* NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1696 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAAGTGTGTGAATGTAGGGA 0.557000 72 883 5.10508e-28 1.2712e-27 0.003610 1 0 AVL9 23080 broad.mit.edu 37 7 32590986 32590986 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:32590986C>T ENST00000318709.4 + 5 634 c.413C>T c.(412-414)aCa>aTa p.T138I AVL9_ENST00000404479.1_Missense_Mutation_p.T138I|AVL9_ENST00000409301.1_Missense_Mutation_p.T138I NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 138 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CAACTCATTACACATGCATAT 0.308000 16 102 0 0 0.003163 0 0 ATF1 466 broad.mit.edu 37 12 51213453 51213453 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:51213453A>G ENST00000262053.3 + 7 729 c.707A>G c.(706-708)gAa>gGa p.E236G ATF1_ENST00000539132.1_Missense_Mutation_p.E101G NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 236 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 AAGAAGAAAGAATATGTGAAA 0.308000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 21 26 0 0 0.002299 0 0 WDR43 23160 broad.mit.edu 37 2 29158393 29158393 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:29158393C>T ENST00000407426.3 + 12 1500 c.1444C>T c.(1444-1446)Ctt>Ttt p.L482F NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 482 nucleolus breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) ACAGAAAGTACTTCAAACTAG 0.318000 10 39 0 0 0.000443 0 0 ACACA 31 broad.mit.edu 37 17 35468548 35468548 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:35468548T>G ENST00000353139.5 - 52 6964 c.6483A>C c.(6481-6483)gtA>gtC p.V2161V ACACA_ENST00000361253.5_Silent_p.V250V|ACACA_ENST00000394406.2_Silent_p.V2124V|ACACA_ENST00000360679.3_Silent_p.V2066V|ACACA_ENST00000335166.5_Silent_p.V2046V NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 2124 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ATTTGATTTCTACTGTCCCTT 0.458000 27 71 0 0 0.005443 0 0 GRID2 2895 broad.mit.edu 37 4 94006343 94006343 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:94006343C>A ENST00000282020.4 + 3 700 c.442C>A c.(442-444)Cca>Aca p.P148T GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 148 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTCAGTTCGCCCACCTGTCTA 0.478000 29 77 7.26314e-15 1.56407e-14 0.001271 1 0 ZNF704 619279 broad.mit.edu 37 8 81605276 81605276 + Silent SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:81605276A>C ENST00000327835.3 - 3 519 c.288T>G c.(286-288)acT>acG p.T96T ZNF704_ENST00000520336.1_5'UTR NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 96 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CCAAAGGGCTAGTCGACAAGC 0.527000 15 41 0 0 0.003163 0 0 RASGRP3 25780 broad.mit.edu 37 2 33741637 33741637 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:33741637T>C ENST00000403687.3 + 4 839 c.99T>C c.(97-99)taT>taC p.Y33Y RASGRP3_ENST00000407811.1_Silent_p.Y33Y|RASGRP3_ENST00000402538.3_Silent_p.Y33Y NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 33 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) ATAATAGTTATTTGCCAAGAA 0.328000 2 9 0 0 0.004672 0 0 LTBP1 4052 broad.mit.edu 37 2 33540329 33540329 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:33540329G>A ENST00000404816.2 + 24 4076 c.3723G>A c.(3721-3723)acG>acA p.T1241T LTBP1_ENST00000407925.1_Silent_p.T915T|LTBP1_ENST00000390003.4_Silent_p.T916T|LTBP1_ENST00000402934.1_Silent_p.T862T|LTBP1_ENST00000354476.3_Silent_p.T1242T|LTBP1_ENST00000272273.5_Silent_p.T181T|LTBP1_ENST00000418533.2_Silent_p.T915T|LTBP1_ENST00000404525.1_Silent_p.T862T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1241 EGF-like 12; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ATGGCCGTACGTGTGAAGGTA 0.448000 13 31 0 0 0.001855 0 0 LSM11 134353 broad.mit.edu 37 5 157181901 157181901 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:157181901G>T ENST00000286307.5 + 4 768 c.712G>T c.(712-714)Gaa>Taa p.E238* NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 238 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCCAAGAAGGAAGCAGATTC 0.423000 22 39 3.10358e-05 5.27872e-05 0.002299 1 0 TAS1R2 80834 broad.mit.edu 37 1 19168324 19168324 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:19168324T>A ENST00000375371.3 - 5 1511 c.1490A>T c.(1489-1491)aAg>aTg p.K497M NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 497 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CTGGCACCTCTTGGAACACAT 0.587000 25 75 0 0 0.001061 0 0 UBAP2 55833 broad.mit.edu 37 9 33956140 33956140 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:33956140G>T ENST00000379238.1 - 11 920 c.803C>A c.(802-804)tCt>tAt p.S268Y UBAP2_ENST00000539807.1_Missense_Mutation_p.S23Y|UBAP2_ENST00000449054.1_Missense_Mutation_p.S268Y|UBAP2_ENST00000418786.2_Missense_Mutation_p.S215Y|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.S268Y Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 268 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CTTTGTTTCAGAAAGCTGTAT 0.353000 22 59 2.89027e-11 5.74333e-11 0.002299 1 0 LOC728323 728323 broad.mit.edu 37 2 243061153 243061153 + RNA SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:243061153G>T ENST00000456398.1 + 0 501 ACCTTTAATCGGTTAGACTTC 0.368000 26 30 3.73988e-18 8.52948e-18 0.001061 1 0 AZI1 22994 broad.mit.edu 37 17 79176070 79176070 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:79176070C>A ENST00000269392.4 - 7 1005 c.758G>T c.(757-759)cGg>cTg p.R253L AZI1_ENST00000374782.3_Missense_Mutation_p.R253L|AZI1_ENST00000450824.2_Missense_Mutation_p.R253L|AZI1_ENST00000575907.1_Missense_Mutation_p.R253L|AZI1_ENST00000570482.2_5'UTR NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 253 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACCTCCTTCCGCCTGGGCAA 0.652000 16 48 1.15088e-07 2.09412e-07 0.004007 1 0 CUBN 8029 broad.mit.edu 37 10 17126346 17126346 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:17126346T>A ENST00000377833.4 - 17 2290 c.2225A>T c.(2224-2226)cAg>cTg p.Q742L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 742 CUB 3. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGTTCTCCCTGGGGCTGCTT 0.498000 21 41 0 0 0.001882 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175132 125175132 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:125175132T>C ENST00000431078.1 + 4 858 c.494T>C c.(493-495)aTt>aCt p.I165T NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 165 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGTGGGAAGATTGGCATGAGA 0.498000 3 16 0 0 0.004672 0 0 PKHD1 5314 broad.mit.edu 37 6 51750673 51750673 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:51750673C>A ENST00000371117.3 - 45 7482 c.7207G>T c.(7207-7209)Ggt>Tgt p.G2403C PKHD1_ENST00000340994.4_Missense_Mutation_p.G2403C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2403 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACCTGGGCACCACCTGCACTT 0.388000 14 46 1.3612e-06 2.40699e-06 0.003163 1 0 TPO 7173 broad.mit.edu 37 2 1480964 1480964 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:1480964C>A ENST00000345913.4 + 8 1017 c.926C>A c.(925-927)tCc>tAc p.S309Y TPO_ENST00000329066.4_Missense_Mutation_p.S309Y|TPO_ENST00000382201.3_Missense_Mutation_p.S309Y|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S309Y|TPO_ENST00000337415.3_Missense_Mutation_p.S309Y|TPO_ENST00000382198.1_Intron|TPO_ENST00000497517.2_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 309 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGGAACCTGTCCACGGCCAAC 0.706000 9 25 7.48243e-07 1.33843e-06 0.000443 1 0 HELZ 9931 broad.mit.edu 37 17 65162623 65162623 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:65162623C>T ENST00000358691.5 - 15 2032 c.1866G>A c.(1864-1866)atG>atA p.M622I HELZ_ENST00000580168.1_Missense_Mutation_p.M622I NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGGTGGGAGTCATACTGATGT 0.363000 20 44 0 0 0.001216 0 0 WNT5B 81029 broad.mit.edu 37 12 1755062 1755062 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:1755062G>T ENST00000397196.2 + 5 956 c.724G>T c.(724-726)Ggg>Tgg p.G242W WNT5B_ENST00000542408.1_3'UTR|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_Missense_Mutation_p.G242W|WNT5B_ENST00000310594.3_Missense_Mutation_p.G242W NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 242 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CCGCAAGGTCGGGGACCGGCT 0.662000 28 50 6.12954e-19 1.4288e-18 0.004656 1 0 MYBL2 4605 broad.mit.edu 37 20 42328423 42328423 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:42328423C>T ENST00000217026.4 + 7 817 c.690C>T c.(688-690)tcC>tcT p.S230S MYBL2_ENST00000396863.4_Silent_p.S206S NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 230 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACTGGCCCTCCGTCCCTCCTA 0.488000 16 28 0 0 0.006122 0 0 TOP3B 8940 broad.mit.edu 37 22 22322027 22322027 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:22322027C>G ENST00000398793.2 - 8 1234 c.800G>C c.(799-801)cGg>cCg p.R267P TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.R267P NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 267 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TGCGATCTCCCGGTCAAACAC 0.483000 33 65 0 0 0.003271 0 0 CCDC104 112942 broad.mit.edu 37 2 55756024 55756024 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:55756024A>T ENST00000349456.4 + 4 441 c.293A>T c.(292-294)cAa>cTa p.Q98L CCDC104_ENST00000403007.3_Missense_Mutation_p.Q98L|CCDC104_ENST00000407816.3_Missense_Mutation_p.Q98L|CCDC104_ENST00000339012.3_Missense_Mutation_p.Q123L|CCDC104_ENST00000406691.3_Missense_Mutation_p.Q98L Q96G28 CC104_HUMAN coiled-coil domain containing 104 98 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCCATTTTGCAACCTGTGTTG 0.363000 5 34 0 0 0.001168 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474516 140474516 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140474516G>T ENST00000194155.4 + 1 290 c.142G>T c.(142-144)Gcc>Tcc p.A48S NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 48 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCTTTGTGGCCAATTTGTT 0.498000 13 49 1.05317e-09 2.03437e-09 0.002450 1 0 KRT18 3875 broad.mit.edu 37 12 53346565 53346565 + Missense_Mutation SNP G G A rs148580152 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:53346565G>A ENST00000388835.3 + 7 1442 c.1232G>A c.(1231-1233)cGc>cAc p.R411H KRT18_ENST00000550600.1_3'UTR|KRT18_ENST00000388837.2_Missense_Mutation_p.R411H NM_000224.2 NP_000215.1 P05783 K1C18_HUMAN keratin 18 411 Tail. 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 ACCACCACCCGCCGGATAGTG 0.532000 24 48 0 0 0.002299 0 0 SLC12A1 6557 broad.mit.edu 37 15 48577336 48577336 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:48577336C>A ENST00000396577.3 + 21 2734 c.2519C>A c.(2518-2520)gCa>gAa p.A840E SLC12A1_ENST00000558405.1_Missense_Mutation_p.A840E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A840E NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 840 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GAGAGACTAGCATTGGAAGCG 0.373000 28 43 1.39806e-14 2.99775e-14 0.001512 1 0 AHNAK 79026 broad.mit.edu 37 11 62289778 62289778 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:62289778G>C ENST00000378024.4 - 5 12385 c.12111C>G c.(12109-12111)atC>atG p.I4037M AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4037 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGGCCCTTGATGTCAACTT 0.493000 92 249 0 0 0.003610 0 0 XKR4 114786 broad.mit.edu 37 8 56436507 56436507 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:56436507C>A ENST00000327381.5 + 3 1774 c.1674C>A c.(1672-1674)gaC>gaA p.D558E NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 558 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TTGTCAGCGACCGCGATCAGA 0.592000 19 56 5.35267e-07 9.60895e-07 0.000958 1 0 RBM14 10432 broad.mit.edu 37 11 66392979 66392979 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:66392979A>T ENST00000310137.4 + 2 1771 c.1632A>T c.(1630-1632)ccA>ccT p.P544P RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 544 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 GCGGCCAGCCAGGCAATGCCT 0.657000 20 46 0 0 0.001216 0 0 SERINC5 256987 broad.mit.edu 37 5 79470855 79470855 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:79470855C>T ENST00000507668.2 - 5 623 c.473G>A c.(472-474)gGa>gAa p.G158E SERINC5_ENST00000512721.1_Missense_Mutation_p.G158E|SERINC5_ENST00000512972.2_Missense_Mutation_p.G158E|SERINC5_ENST00000509193.1_Missense_Mutation_p.G158E NM_001174071.1|NM_178276.5 NP_001167542.1|NP_840060.1 Q86VE9 SERC5_HUMAN serine incorporator 5 158 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) TCCGACGGCTCCCACATAGCG 0.468000 5 8 0 0 0.001168 0 0 NDN 4692 broad.mit.edu 37 15 23931753 23931753 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:23931753G>T ENST00000331837.4 - 1 697 c.612C>A c.(610-612)ggC>ggA p.G204G NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 204 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCTCTCTGGCGCCGCGGCCCT 0.657000 Prader-Willi syndrome 10 25 2.17888e-05 3.71854e-05 0.000443 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64608244 64608244 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:64608244C>T ENST00000498707.1 - 17 2750 c.2408G>A c.(2407-2409)gGt>gAt p.G803D ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G775D NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 803 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAAGAATTCACCTTTACTGCT 0.403000 17 20 0 0 0.004990 0 0 FBLN7 129804 broad.mit.edu 37 2 112944822 112944822 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:112944822G>T ENST00000331203.2 + 8 1330 c.1059G>T c.(1057-1059)acG>acT p.T353T FBLN7_ENST00000409450.3_Silent_p.T307T|FBLN7_ENST00000409667.3_Silent_p.T219T|FBLN7_ENST00000409903.1_Intron NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 353 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CGCCCATCACGCTCTTCCGCA 0.647000 38 103 4.14481e-20 9.7522e-20 0.001287 1 0 PCDHA12 56137 broad.mit.edu 37 5 140255363 140255363 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140255363C>A ENST00000398631.2 + 1 306 c.306C>A c.(304-306)tgC>tgA p.C102* PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGAGTGCAGTATCCACC 0.552000 73 186 3.58576e-35 9.14438e-35 0.003610 1 0 TBCD 6904 broad.mit.edu 37 17 80885196 80885196 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:80885196C>T ENST00000355528.4 + 29 2736 c.2606C>T c.(2605-2607)aCc>aTc p.T869I TBCD_ENST00000539345.2_Missense_Mutation_p.T869I NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 869 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GACGTGGGCACCTGGTACGTA 0.572000 6 15 0 0 0.001984 0 0 ROBO4 54538 broad.mit.edu 37 11 124765699 124765699 + Silent SNP C C G rs143848676 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:124765699C>G ENST00000306534.3 - 5 1274 c.789G>C c.(787-789)gcG>gcC p.A263A ROBO4_ENST00000533054.1_Silent_p.A118A|ROBO4_ENST00000526899.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 263 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TGAGCCACACCGCCGGTCTAG 0.597000 36 46 0 0 0.004878 0 0 DNAH11 8701 broad.mit.edu 37 7 21628907 21628907 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:21628907T>A ENST00000328843.6 + 12 2086 c.2055T>A c.(2053-2055)cgT>cgA p.R685R DNAH11_ENST00000409508.3_Silent_p.R685R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 685 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTGAAAGTCGTATCTATAATG 0.333000 Kartagener syndrome 24 46 0 0 0.003330 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42442599 42442599 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:42442599T>G ENST00000397272.3 - 9 948 c.857A>C c.(856-858)gAg>gCg p.E286A PLA2G4F_ENST00000382396.4_Missense_Mutation_p.E286A NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 286 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACACTGTTCCTCCTGGCCTAG 0.627000 9 14 0 0 0.000443 0 0 OR51V1 283111 broad.mit.edu 37 11 5221348 5221348 + Missense_Mutation SNP G G A rs151191536 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:5221348G>A ENST00000321255.1 - 1 582 c.583C>T c.(583-585)Cgc>Tgc p.R195C NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGCTAAGCGGAGAAGATCC 0.398000 11 39 0 0 0.000978 0 0 KCNMA1 3778 broad.mit.edu 37 10 78729807 78729807 + Nonsense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:78729807G>C ENST00000286627.5 - 19 3063 c.2111C>G c.(2110-2112)tCa>tGa p.S704* KCNMA1_ENST00000372443.1_Nonsense_Mutation_p.S704*|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.S762*|KCNMA1_ENST00000404857.1_Nonsense_Mutation_p.S704*|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.S766*|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Nonsense_Mutation_p.S765*|KCNMA1_ENST00000372440.1_Nonsense_Mutation_p.S704*|KCNMA1_ENST00000286628.8_Nonsense_Mutation_p.S762* NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 699 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TGATAGTGTTGACGGCTGCTC 0.483000 22 84 0 0 0.002780 0 0 MSI2 124540 broad.mit.edu 37 17 55607074 55607074 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:55607074A>G ENST00000284073.2 + 7 652 c.443A>G c.(442-444)aAc>aGc p.N148S MSI2_ENST00000322684.3_Missense_Mutation_p.N144S|MSI2_ENST00000416426.2_Missense_Mutation_p.N126S|MSI2_ENST00000442934.2_Missense_Mutation_p.N87S|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000579180.1_Missense_Mutation_p.N44S NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 148 RRM 2. cytoplasm nucleotide binding|RNA binding p.N144S(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) AAAACTACCAACAGGCACAGA 0.428000 T HOXA9 CML 13 30 0 0 0.001855 0 0 CFTR 1080 broad.mit.edu 37 7 117246788 117246788 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:117246788C>A ENST00000003084.6 + 18 3101 c.2969C>A c.(2968-2970)aCc>aAc p.T990N CFTR_ENST00000454343.1_Missense_Mutation_p.T929N|AC000111.6_ENST00000456270.1_RNA NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 990 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CTGCCTCTTACCATATTTGAC 0.289000 Cystic Fibrosis 23 89 3.28513e-13 6.76925e-13 0.003954 1 0 GBA3 57733 broad.mit.edu 37 4 22729135 22729135 + RNA SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:22729135G>T ENST00000503442.1 + 0 149 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTCAGGTCACGGGCCAGCTTT 0.473000 87 213 6.20368e-34 1.57605e-33 0.003610 1 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785476 22785476 + RNA SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:22785476C>A ENST00000600260.1 + 0 1565 NR_033899.1 AACATCGCTGCATCCAGCTCT 0.607000 24 70 7.07758e-08 1.30199e-07 0.004656 1 0 F9 2158 broad.mit.edu 37 X 138642993 138642993 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:138642993G>A ENST00000218099.2 + 7 824 c.817G>A c.(817-819)Gtt>Att p.V273I F9_ENST00000394090.2_Missense_Mutation_p.V235I NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 273 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGAAACTGGTGTTAAAATTAC 0.368000 7 42 0 0 0.001984 0 0 PAPPA 5069 broad.mit.edu 37 9 118950331 118950331 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:118950331G>T ENST00000328252.3 + 2 1683 c.1314G>T c.(1312-1314)ggG>ggT p.G438G NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 438 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACGACGGCGGGGATTGCCGCC 0.597000 17 62 1.45105e-14 3.10807e-14 0.006122 1 0 SOGA3 387104 broad.mit.edu 37 6 127836029 127836029 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:127836029C>A ENST00000556132.1 - 3 2129 c.1265G>T c.(1264-1266)cGc>cTc p.R422L SOGA3_ENST00000525778.1_Missense_Mutation_p.R422L|SOGA3_ENST00000481848.2_Missense_Mutation_p.R422L|SOGA3_ENST00000368268.2_Missense_Mutation_p.R422L|SOGA3_ENST00000465909.2_Missense_Mutation_p.R422L NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 422 integral to membrane CTGGGCGTAGCGGAGCCTTTT 0.657000 23 63 3.01185e-09 5.70262e-09 0.003954 1 0 MASP2 10747 broad.mit.edu 37 1 11090242 11090242 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:11090242A>T ENST00000400897.3 - 10 1303 c.1288T>A c.(1288-1290)Tgt>Agt p.C430S RP4-635E18.8_ENST00000607145.1_RNA NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 430 Sushi 2. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CCAGGCTCACAGACTGGGAGT 0.438000 45 33 0 0 0.002852 0 0 UTP11L 51118 broad.mit.edu 37 1 38484769 38484769 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:38484769T>A ENST00000373014.4 + 5 442 c.381T>A c.(379-381)gaT>gaA p.D127E UTP11L_ENST00000537711.1_Missense_Mutation_p.D127E|UTP11L_ENST00000488453.1_3'UTR NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 127 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATCTGCTGGATTTCCAGGGGA 0.378000 34 18 0 0 0.002836 0 0 TESK1 7016 broad.mit.edu 37 9 35609311 35609311 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35609311C>T ENST00000336395.5 + 10 1703 c.1453C>T c.(1453-1455)Cag>Tag p.Q485* TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 485 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCCAGCGCCCCAGCTGCCTCT 0.647000 23 59 0 0 0.003330 0 0 ZNF254 9534 broad.mit.edu 37 19 24309076 24309076 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:24309076C>T ENST00000357002.4 + 4 389 c.274C>T c.(274-276)Caa>Taa p.Q92* ZNF254_ENST00000342944.6_Nonsense_Mutation_p.Q7* NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 92 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TCATTTTGCTCAAGACCTTTG 0.308000 7 30 0 0 0.001984 0 0 OR8B8 26493 broad.mit.edu 37 11 124310451 124310451 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:124310451G>A ENST00000328064.2 - 1 603 c.531C>T c.(529-531)taC>taT p.Y177Y NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGTCACACATGTAGTGGTTGA 0.502000 26 54 0 0 0.003330 0 0 C22orf42 150297 broad.mit.edu 37 22 32555017 32555017 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:32555017C>G ENST00000382097.3 - 1 258 c.186G>C c.(184-186)caG>caC p.Q62H NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 62 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GGCTGAGGTACTGCATGAGTT 0.537000 61 174 0 0 0.003610 0 0 ART1 417 broad.mit.edu 37 11 3681167 3681167 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:3681167C>A ENST00000250693.1 + 3 519 c.418C>A c.(418-420)Cgc>Agc p.R140S NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 140 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) TGAGGCGGGCCGCTCCCGGGC 0.667000 24 40 2.39556e-15 5.20335e-15 0.002780 1 0 PKD1 5310 broad.mit.edu 37 16 2167056 2167056 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:2167056T>C ENST00000262304.4 - 7 1594 c.e7-2 PKD1_ENST00000423118.1_Splice_Site NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCTAGGCTCCTGGGGGCGGGT 0.682000 9 15 0 0 0.001368 0 0 NLRP4 147945 broad.mit.edu 37 19 56372754 56372754 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:56372754C>A ENST00000301295.6 + 4 2281 c.1859C>A c.(1858-1860)tCg>tAg p.S620* NLRP4_ENST00000587891.1_Nonsense_Mutation_p.S545*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.S620* NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 620 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GACCACAGGTCGGATTACAGC 0.552000 16 25 1.5739e-10 3.08478e-10 0.004007 1 0 SNHG14 104472715 broad.mit.edu 37 15 25417853 25417853 + RNA SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:25417853T>C ENST00000549301.1 + 0 503 SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA AATAGGATTATGCTGAGGCCC 0.522000 100 107 0 0 0.003610 0 0 PNKP 11284 broad.mit.edu 37 19 50364538 50364538 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:50364538C>A ENST00000322344.3 - 17 1642 c.1533G>T c.(1531-1533)ctG>ctT p.L511L PNKP_ENST00000596014.1_Silent_p.L511L|PNKP_ENST00000600573.1_Silent_p.L480L|PNKP_ENST00000600910.1_3'UTR NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 511 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) ACAGCCGCCCCAGCCTCGGCT 0.622000 Other BER factors 45 80 1.8453e-21 4.43004e-21 0.002522 1 0 NCKAP5 344148 broad.mit.edu 37 2 133540264 133540264 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:133540264G>C ENST00000409261.1 - 14 4493 c.4120C>G c.(4120-4122)Cca>Gca p.P1374A NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1374A NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1374 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCAGACTTTGGAGGGATCCTC 0.622000 15 30 0 0 0.004007 0 0 RXRG 6258 broad.mit.edu 37 1 165377463 165377463 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:165377463C>A ENST00000359842.5 - 8 1441 c.e8+1 NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) AGGGCGGTTACCTGGGTTAAA 0.517000 34 66 2.05212e-20 4.86832e-20 0.005524 1 0 NAV2 89797 broad.mit.edu 37 11 20066745 20066745 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:20066745G>T ENST00000396085.1 + 14 3792 c.3431G>T c.(3430-3432)aGc>aTc p.S1144I NAV2_ENST00000540292.1_Missense_Mutation_p.S1098I|NAV2_ENST00000533917.1_Missense_Mutation_p.S230I|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.S230I|NAV2_ENST00000396087.3_Missense_Mutation_p.S1167I|NAV2_ENST00000360655.4_Missense_Mutation_p.S1080I|NAV2_ENST00000349880.4_Missense_Mutation_p.S1144I|NAV2_ENST00000527559.2_Missense_Mutation_p.S1096I NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1167 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ACTGTCACCAGCAGGTCAGCC 0.572000 19 79 9.95505e-16 2.18597e-15 0.002299 1 0 OR52B2 255725 broad.mit.edu 37 11 6191434 6191434 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:6191434G>T ENST00000530810.1 - 1 204 c.123C>A c.(121-123)gtC>gtA p.V41V RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTTTCCCAGGACTGCAGTGA 0.478000 22 71 7.45023e-12 1.49526e-11 0.001523 1 0 TNS3 64759 broad.mit.edu 37 7 47474985 47474985 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:47474985C>T ENST00000398879.1 - 8 585 c.219G>A c.(217-219)tgG>tgA p.W73* TNS3_ENST00000442536.2_Nonsense_Mutation_p.W73*|TNS3_ENST00000458317.2_Nonsense_Mutation_p.W73*|TNS3_ENST00000311160.9_Nonsense_Mutation_p.W73*|TNS3_ENST00000355730.3_Nonsense_Mutation_p.W73* Q68CZ2 TENS3_HUMAN tensin 3 73 Phosphatase tensin-type. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GGAGCTCTGGCCAGCCCACAT 0.517000 25 81 0 0 0.004656 0 0 PHF20L1 51105 broad.mit.edu 37 8 133816972 133816972 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:133816972T>G ENST00000395386.2 + 8 1133 c.834T>G c.(832-834)ctT>ctG p.L278L PHF20L1_ENST00000395374.1_Silent_p.L117L|PHF20L1_ENST00000395382.3_Silent_p.L148L|PHF20L1_ENST00000395383.1_Silent_p.L282L|PHF20L1_ENST00000395379.1_Silent_p.L278L|PHF20L1_ENST00000337920.4_Silent_p.L252L|PHF20L1_ENST00000315808.10_Silent_p.L278L|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Silent_p.L253L|PHF20L1_ENST00000395376.1_Silent_p.L283L NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 278 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GAGCTCGACTTAACAAGATTA 0.343000 20 52 0 0 0.001882 0 0 BDP1 55814 broad.mit.edu 37 5 70819984 70819984 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:70819984G>T ENST00000358731.4 + 25 5869 c.5606G>T c.(5605-5607)cGg>cTg p.R1869L BDP1_ENST00000380675.2_Missense_Mutation_p.R6L NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1869 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding p.R1869L(1) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GTGACTCTTCGGGCTTCCCAG 0.468000 36 94 2.26627e-22 5.49325e-22 0.001706 1 0 RBM18 92400 broad.mit.edu 37 9 125004254 125004254 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:125004254T>G ENST00000417201.3 - 6 622 c.482A>C c.(481-483)tAt>tCt p.Y161S RBM18_ENST00000483428.1_5'UTR NM_033117.3 NP_149108.1 Q96H35 RBM18_HUMAN RNA binding motif protein 18 161 nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 CGCTGCTGGATACTCTGCATC 0.408000 18 62 0 0 0.004990 0 0 PHRF1 57661 broad.mit.edu 37 11 608998 608998 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:608998G>T ENST00000264555.5 + 14 3670 c.3542G>T c.(3541-3543)cGt>cTt p.R1181L PHRF1_ENST00000533464.1_Missense_Mutation_p.R1177L|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1179L|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1180L NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1181 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CCTCGGTCCCGTGAGAAGTGG 0.706000 4 13 0.00024832 0.000412224 0.000248 1 0 SPNS3 201305 broad.mit.edu 37 17 4350211 4350211 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:4350211G>A ENST00000355530.2 + 5 855 c.575G>A c.(574-576)gGg>gAg p.G192E SPNS3_ENST00000333476.2_Missense_Mutation_p.G65E|SPNS3_ENST00000576069.1_3'UTR NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 192 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 TACGTGCTGGGGTCGGCTGTG 0.652000 21 37 0 0 0.002780 0 0 GUCY2C 2984 broad.mit.edu 37 12 14796620 14796620 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:14796620G>T ENST00000261170.3 - 17 1954 c.1818C>A c.(1816-1818)tcC>tcA p.S606S NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 606 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 CTGTCTTACTGGAGTGCAGAT 0.373000 20 89 2.37509e-13 4.91931e-13 0.001523 1 0 FAM155A 728215 broad.mit.edu 37 13 108518792 108518792 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:108518792C>A ENST00000375915.2 - 1 291 c.153G>T c.(151-153)ctG>ctT p.L51L NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 51 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GATCAGAGAGCAGGACTGTGA 0.602000 39 80 2.75727e-19 6.45723e-19 0.004878 1 0 SLC9A9 285195 broad.mit.edu 37 3 143292939 143292939 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:143292939C>A ENST00000316549.6 - 8 1199 c.991G>T c.(991-993)Ggc>Tgc p.G331C NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 331 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity p.G331S(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 CCTGTTAGGCCGGCAGCCTCG 0.537000 9 66 0.000274275 0.000453435 0.004482 1 0 CHRFAM7A 89832 broad.mit.edu 37 15 30665184 30665184 + Missense_Mutation SNP C C A rs144150663 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:30665184C>A ENST00000397827.3 - 5 826 c.52G>T c.(52-54)Gtg>Ttg p.V18L CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.V109L|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V18L NM_148911.1 NP_683709.1 Q494W8 CRFM7_HUMAN CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 109 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity large_intestine(3)|lung(1)|skin(2) 6 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) GGCTTACCCACTAGGTCCCAT 0.502000 41 84 1.00001e-27 2.48393e-27 0.002222 1 0 CCDC19 25790 broad.mit.edu 37 1 159850454 159850454 + Nonsense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:159850454G>A ENST00000426543.2 - 8 1134 c.679C>T c.(679-681)Caa>Taa p.Q227* CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Nonsense_Mutation_p.Q312* Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 312 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) ATCTCAGCTTGCATCTTCAGT 0.468000 16 65 0 0 0.004007 0 0 PCLO 27445 broad.mit.edu 37 7 82451863 82451863 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:82451863C>A ENST00000423517.2 - 20 15076 c.14739G>T c.(14737-14739)ggG>ggT p.G4913G PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.G4913G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4775 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTATGGCAGCCCCTGCATCTT 0.498000 71 176 3.31162e-33 8.39194e-33 0.003610 1 0 HOXA7 3204 broad.mit.edu 37 7 27196162 27196162 + Translation_Start_Site SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:27196162C>T ENST00000242159.3 - 1 136 c.3G>A c.(1-3)atG>atA p.M1I NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 1 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 ACGAAGAACTCATAATTTTGA 0.443000 30 97 0 0 0.002096 0 0 ASTN2 23245 broad.mit.edu 37 9 119976723 119976723 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:119976723C>A ENST00000313400.4 - 3 1029 c.929G>T c.(928-930)cGc>cTc p.R310L ASTN2_ENST00000373996.3_Missense_Mutation_p.R310L|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R310L O75129 ASTN2_HUMAN astrotactin 2 310 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CTCGTCCTCGCGGGAGACATG 0.577000 28 93 2.65835e-16 5.92153e-16 0.001271 1 0 TFR2 7036 broad.mit.edu 37 7 100225246 100225246 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:100225246A>T ENST00000462107.1 - 16 2008 c.1721T>A c.(1720-1722)tTc>tAc p.F574Y TFR2_ENST00000544242.1_Missense_Mutation_p.F115Y|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.F574Y Q9UP52 TFR2_HUMAN transferrin receptor 2 574 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AAAGGCCGTGAAGGAATAGGC 0.632000 9 39 0 0 0.000443 0 0 MYH8 4626 broad.mit.edu 37 17 10304018 10304018 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:10304018G>A ENST00000403437.2 - 27 3518 c.3424C>T c.(3424-3426)Ctc>Ttc p.L1142F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1142 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 TCCCGGGAGAGGTCAGAGCGC 0.582000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 48 119 0 0 0.003610 0 0 OR2C3 81472 broad.mit.edu 37 1 247695520 247695520 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:247695520A>T ENST00000366487.3 - 2 655 c.294T>A c.(292-294)tgT>tgA p.C98* GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) ACTGGACCACACACCCTCCAT 0.577000 18 51 0 0 0.006122 0 0 REG1P 5969 broad.mit.edu 37 2 79364147 79364147 + RNA SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:79364147C>A ENST00000444841.1 - 0 285 AAGGACAGCACAGAAATGTCC 0.463000 7 27 8.12818e-05 0.000136171 0.001984 1 0 GYPB 2994 broad.mit.edu 37 4 144920591 144920591 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:144920591G>T ENST00000283126.7 - 3 203 c.148C>A c.(148-150)Caa>Aaa p.Q50K GYPB_ENST00000502664.1_Missense_Mutation_p.Q50K|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Missense_Mutation_p.Q17K|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000429670.2_Missense_Mutation_p.Q50K glycophorin B (MNS blood group) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) TGGACAAGTTGTCCCGTTTCT 0.328000 4 11 0.00024832 0.000412224 0.000248 1 0 LAMB4 22798 broad.mit.edu 37 7 107746424 107746424 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:107746424A>G ENST00000388781.3 - 8 791 c.708T>C c.(706-708)ctT>ctC p.L236L LAMB4_ENST00000205386.4_Silent_p.L236L|LAMB4_ENST00000388780.3_Silent_p.L236L|LAMB4_ENST00000414450.2_Silent_p.L236L NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 236 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 AAGCATCCCCAAGGGTGTGGA 0.418000 16 42 0 0 0.004990 0 0 PABPC3 5042 broad.mit.edu 37 13 25671150 25671150 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:25671150C>A ENST00000281589.3 + 1 851 c.814C>A c.(814-816)Cgg>Agg p.R272R NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 272 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAAAGTGGAACGGCAGACGGA 0.398000 30 37 7.26314e-15 1.56407e-14 0.001271 1 0 MYOCD 93649 broad.mit.edu 37 17 12620739 12620739 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:12620739G>T ENST00000425538.1 + 4 453 c.e4+1 MYOCD_ENST00000343344.4_Splice_Site|RP11-746E8.1_ENST00000578952.1_lincRNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ATACTCCAAGGTAAGGCTGCA 0.443000 7 23 0.00198382 0.00323176 0.001984 1 0 CCDC38 120935 broad.mit.edu 37 12 96312654 96312654 + Splice_Site SNP C C A rs139084164 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:96312654C>A ENST00000344280.3 - 3 695 c.138_splice c.e3+1 p.T46_splice NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 46 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TAAACTTTACCGTTTCCTTTG 0.363000 14 46 1.15088e-07 2.09412e-07 0.004007 1 0 KRT25 147183 broad.mit.edu 37 17 38910665 38910665 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:38910665C>T ENST00000312150.4 - 2 545 c.485G>A c.(484-486)aGg>aAg p.R162K NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 162 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) AGCTGTAAGCCTGGCATTATC 0.393000 27 73 0 0 0.001512 0 0 APOB 338 broad.mit.edu 37 2 21230042 21230042 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:21230042T>C ENST00000233242.1 - 26 9825 c.9698A>G c.(9697-9699)tAc>tGc p.Y3233C NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3233 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCAGCTTTGTACTTATCAAA 0.363000 19 27 0 0 0.000958 0 0 GREB1 9687 broad.mit.edu 37 2 11702672 11702672 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:11702672C>G ENST00000381486.2 + 3 541 c.241C>G c.(241-243)Ctg>Gtg p.L81V GREB1_ENST00000381483.2_Missense_Mutation_p.L81V|GREB1_ENST00000263834.5_Missense_Mutation_p.L81V|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000234142.5_Missense_Mutation_p.L81V NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 81 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCCTTTCCAGCTGCACCCTCT 0.612000 29 87 0 0 0.002096 0 0 PYGL 5836 broad.mit.edu 37 14 51381466 51381466 + Missense_Mutation SNP G G T rs113993980 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:51381466G>T ENST00000216392.7 - 12 1803 c.1471C>A c.(1471-1473)Cgc>Agc p.R491S PYGL_ENST00000544180.2_Missense_Mutation_p.R457S|PYGL_ENST00000532462.1_Missense_Mutation_p.R491S NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 491 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) AGGAGCCAGCGCCTTGGAGTG 0.498000 17 57 2.35188e-11 4.70142e-11 0.006122 1 0 ROBO4 54538 broad.mit.edu 37 11 124756439 124756439 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:124756439G>C ENST00000306534.3 - 16 3200 c.2715C>G c.(2713-2715)caC>caG p.H905Q RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.H760Q NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 905 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCCGGGCAAAGTGAGCATCAG 0.602000 13 51 0 0 0.001368 0 0 AKAP12 9590 broad.mit.edu 37 6 151673277 151673277 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:151673277T>A ENST00000402676.2 + 4 3991 c.3751T>A c.(3751-3753)Tca>Aca p.S1251T AKAP12_ENST00000253332.1_Missense_Mutation_p.S1251T|AKAP12_ENST00000359755.5_Missense_Mutation_p.S1146T|AKAP12_ENST00000354675.6_Missense_Mutation_p.S1153T NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1251 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TAAAGAGGTGTCAGTGGAAAC 0.438000 11 30 0 0 0.000673 0 0 UNC79 57578 broad.mit.edu 37 14 94038416 94038416 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:94038416C>G ENST00000553484.1 + 15 2086 c.1932C>G c.(1930-1932)ttC>ttG p.F644L UNC79_ENST00000555664.1_Missense_Mutation_p.F644L|UNC79_ENST00000393151.2_Missense_Mutation_p.F644L|UNC79_ENST00000256339.4_Missense_Mutation_p.F467L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 644 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TAAAAGAATTCAGGGAAGTAT 0.398000 12 40 0 0 0.001368 0 0 SYNE1 23345 broad.mit.edu 37 6 152529267 152529267 + Missense_Mutation SNP C C A rs149366576 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:152529267C>A ENST00000367255.5 - 125 23265 c.22664G>T c.(22663-22665)cGg>cTg p.R7555L SYNE1_ENST00000448038.1_Missense_Mutation_p.R7484L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7555L|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2079L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7484L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7167L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7555 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATGATCCCCCGCCTCTGCTG 0.488000 HNSCC(10;0.0054) 30 53 2.61193e-14 5.55312e-14 0.001786 1 0 NUAK1 9891 broad.mit.edu 37 12 106466568 106466568 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:106466568C>G ENST00000261402.2 - 5 2012 c.633G>C c.(631-633)acG>acC p.T211T NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 211 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TCCCACAAAACGTTTGTAAGA 0.488000 21 50 0 0 0.001216 0 0 EPHA8 2046 broad.mit.edu 37 1 22919856 22919856 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:22919856G>A ENST00000166244.3 + 6 1425 c.1353G>A c.(1351-1353)gcG>gcA p.A451A NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 451 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AAGAGCGGGCGGGGCAGACCA 0.657000 3 3 0 0 0.000602 0 0 SPANXD 64648 broad.mit.edu 37 X 140785676 140785676 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:140785676G>T ENST00000370515.3 - 2 573 c.240C>A c.(238-240)ctC>ctA p.L80L NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) CCTCCATTTGGAGGGGGTTGA 0.443000 105 132 1.62402e-62 4.2057e-62 0.003610 1 0 TBX6 6911 broad.mit.edu 37 16 30100304 30100304 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:30100304C>T ENST00000553607.1 - 3 1274 c.581G>A c.(580-582)cGt>cAt p.R194H TBX6_ENST00000395224.2_Missense_Mutation_p.R194H|TBX6_ENST00000279386.2_Missense_Mutation_p.R194H O95947 TBX6_HUMAN T-box 6 194 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 GAGCTTGACACGATGGAAAGA 0.647000 44 122 0 0 0.002852 0 0 KRT79 338785 broad.mit.edu 37 12 53227940 53227940 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:53227940T>C ENST00000330553.5 - 1 139 c.105A>G c.(103-105)tcA>tcG p.S35S NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 35 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACACCGTCACTGAGCTGAAGC 0.647000 18 42 0 0 0.001882 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775784 77775784 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:77775784C>A ENST00000521891.2 + 11 10282 c.9834C>A c.(9832-9834)ctC>ctA p.L3278L ZFHX4_ENST00000050961.6_Silent_p.L3229L|ZFHX4_ENST00000518282.1_Silent_p.L3252L|ZFHX4_ENST00000455469.2_Silent_p.L3233L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3229 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACCTCAGCTCCCTGGAACAG 0.517000 HNSCC(33;0.089) 35 100 2.20474e-14 4.71738e-14 0.003755 1 0 SHOX 6473 broad.mit.edu 37 X 601734 601734 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:601734G>T ENST00000381578.1 + 5 1236 c.544_splice c.e5-1 p.G182_splice SHOX_ENST00000554971.1_Splice_Site_p.G182_splice|SHOX_ENST00000334060.3_Splice_Site_p.G182_splice|SHOX_ENST00000381575.1_Splice_Site_p.G182_splice NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 182 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTGGACACAGGCGTCATCTTG 0.602000 18 49 8.28177e-16 1.83056e-15 0.000958 1 0 PSG11 5680 broad.mit.edu 37 19 43529181 43529181 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:43529181G>T ENST00000401740.1 - 2 195 c.92C>A c.(91-93)cCt>cAt p.P31H PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.P31H Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 31 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GGCAGTGGTAGGCAAGTTCCA 0.483000 50 153 4.01344e-20 9.4653e-20 0.003610 1 0 CDK5RAP2 55755 broad.mit.edu 37 9 123177356 123177356 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:123177356C>G ENST00000349780.4 - 28 4438 c.4259G>C c.(4258-4260)cGg>cCg p.R1420P CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1420P|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1379P|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1388P NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1420 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding p.R1420L(1) breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CAACTGTTTCCGTAGCTTCTC 0.408000 23 93 0 0 0.002780 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 40 0 0 0.000248 0 0 TRO 7216 broad.mit.edu 37 X 54949662 54949662 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:54949662A>G ENST00000173898.7 + 3 809 c.697A>G c.(697-699)Acc>Gcc p.T233A TRO_ENST00000319167.8_Missense_Mutation_p.T233A|TRO_ENST00000420798.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.T233A|TRO_ENST00000375041.2_Intron|TRO_ENST00000484031.1_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 233 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CCATACAGCTACCACCCAAGG 0.512000 23 11 0 0 0.002780 0 0 KCNIP1 30820 broad.mit.edu 37 5 170147332 170147332 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:170147332C>A ENST00000328939.4 + 3 731 c.194C>A c.(193-195)cCc>cAc p.P65H KCNIP1_ENST00000377360.4_Missense_Mutation_p.P74H|KCNIP1_ENST00000411494.1_Missense_Mutation_p.P76H|KCNIP1_ENST00000520740.1_Missense_Mutation_p.P37H|KCNIP1_ENST00000434108.1_Missense_Mutation_p.P65H|KCNIP1_ENST00000390656.4_Missense_Mutation_p.P65H NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 76 EF-hand 1; degenerate. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGAGTGCCCCAGTGGTGTG 0.547000 9 30 2.17888e-05 3.71854e-05 0.000443 1 0 OR4S2 219431 broad.mit.edu 37 11 55419304 55419304 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55419304A>G ENST00000312422.2 + 1 925 c.925A>G c.(925-927)Aaa>Gaa p.K309E NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CTTGGAGGCTAAAGGGAAATA 0.363000 49 119 0 0 0.003610 0 0 OR56B1 387748 broad.mit.edu 37 11 5758078 5758078 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:5758078A>G ENST00000317121.3 + 1 398 c.332A>G c.(331-333)tAt>tGt p.Y111C TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 111 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) GCTCAGATTTATGCCATTCAC 0.458000 9 32 0 0 0.000978 0 0 PTPRT 11122 broad.mit.edu 37 20 41306563 41306563 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:41306563C>A ENST00000373198.3 - 7 1331 c.1096G>T c.(1096-1098)Ggt>Tgt p.G366C PTPRT_ENST00000356100.2_Missense_Mutation_p.G366C|PTPRT_ENST00000373187.1_Missense_Mutation_p.G366C|PTPRT_ENST00000373201.1_Missense_Mutation_p.G366C|PTPRT_ENST00000373190.1_Missense_Mutation_p.G366C|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G366C NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 366 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCCCCTCACCTGGTCGTGTG 0.562000 32 38 2.85442e-18 6.53228e-18 0.002096 1 0 FER1L5 90342 broad.mit.edu 37 2 97370351 97370351 + RNA SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:97370351C>A ENST00000457909.1 + 0 5599 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CTACAATAGACCATGAGTGGA 0.463000 31 83 1.74807e-11 3.49788e-11 0.002096 1 0 SNORD3A 780851 broad.mit.edu 37 17 19091382 19091382 + RNA SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:19091382T>G ENST00000365494.1 + 0 54 gaagtttctctgaacgtgtag 0.502000 26 483 0 0 0.003610 0 0 CPA3 1359 broad.mit.edu 37 3 148596303 148596303 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:148596303C>A ENST00000296046.3 + 4 397 c.345C>A c.(343-345)agC>agA p.S115R RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 115 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GCAGGCACAGCTACGCAAAAT 0.313000 67 39 3.05417e-18 6.98146e-18 0.003610 1 0 ZBTB16 7704 broad.mit.edu 37 11 113934661 113934661 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:113934661C>G ENST00000335953.4 + 2 1019 c.639C>G c.(637-639)ctC>ctG p.L213L ZBTB16_ENST00000392996.2_Silent_p.L213L NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 213 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GACAGTCTCTCCTGCAGGGAA 0.597000 15 33 0 0 0.002450 0 0 DNAH9 1770 broad.mit.edu 37 17 11522951 11522951 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:11522951G>C ENST00000262442.3 + 6 1271 c.1203G>C c.(1201-1203)ttG>ttC p.L401F DNAH9_ENST00000454412.2_Missense_Mutation_p.L401F|DNAH9_ENST00000579406.1_3'UTR NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 401 Stem (By similarity). 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) CAGACACTTTGAGCTTCTTCA 0.443000 45 103 0 0 0.002852 0 0 FN3K 64122 broad.mit.edu 37 17 80699208 80699208 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:80699208A>T ENST00000300784.7 + 4 469 c.407A>T c.(406-408)gAg>gTg p.E136V NM_022158.3 NP_071441.1 Q9H479 FN3K_HUMAN fructosamine 3 kinase 136 fructoselysine metabolic process fructosamine-3-kinase activity central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1) 4 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GAGGGTGCTGAGCCTCAGTAT 0.552000 8 9 0 0 0.003080 0 0 NOL8 55035 broad.mit.edu 37 9 95076834 95076834 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:95076834T>C ENST00000545558.1 - 7 2565 c.2073A>G c.(2071-2073)atA>atG p.I691M NOL8_ENST00000542053.1_Missense_Mutation_p.I623M|NOL8_ENST00000535387.1_Missense_Mutation_p.I691M|NOL8_ENST00000358855.4_Missense_Mutation_p.I623M|NOL8_ENST00000442668.2_Missense_Mutation_p.I691M Q76FK4 NOL8_HUMAN nucleolar protein 8 691 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TGTCAAAGCCTATGTTGTGAG 0.438000 7 52 0 0 0.003080 0 0 AIRE 326 broad.mit.edu 37 21 45708269 45708269 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:45708269A>T ENST00000291582.5 + 5 707 c.580A>T c.(580-582)Atg>Ttg p.M194L NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 194 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) AGCTGTGGCCATGTCCTCCGG 0.622000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 37 71 0 0 0.001485 0 0 GTSE1 51512 broad.mit.edu 37 22 46704670 46704670 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:46704670C>A ENST00000454366.1 + 4 804 c.592C>A c.(592-594)Cgc>Agc p.R198S NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 179 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TGCCCAGGCCCGCCTCACCCG 0.677000 45 87 6.4771e-29 1.61887e-28 0.002522 1 0 CABIN1 23523 broad.mit.edu 37 22 24480531 24480531 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:24480531G>T ENST00000398319.2 + 21 3295 c.e21-1 CABIN1_ENST00000263119.5_Splice_Site|CABIN1_ENST00000405822.2_Splice_Site NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TTTTTTTCAAGGTGGATCTTA 0.408000 31 96 2.08457e-15 4.55248e-15 0.002096 1 0 LTBP2 4053 broad.mit.edu 37 14 74969972 74969972 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:74969972T>A ENST00000261978.4 - 33 5224 c.4838A>T c.(4837-4839)gAc>gTc p.D1613V LTBP2_ENST00000556690.1_Missense_Mutation_p.D1569V NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1613 TB 4. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCCTCGCCGTCCTGGCAGCA 0.637000 19 35 0 0 0.002780 0 0 TMEM171 134285 broad.mit.edu 37 5 72427521 72427521 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:72427521A>T ENST00000454765.2 + 4 1412 c.939A>T c.(937-939)acA>acT p.T313T TMEM171_ENST00000287773.5_Silent_p.T312T Q8WVE6 TM171_HUMAN transmembrane protein 171 313 integral to membrane p.T313T(1) endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) CTGCAGCTACATTCTTGCCTC 0.378000 37 67 0 0 0.001706 0 0 CACNA1E 777 broad.mit.edu 37 1 181705563 181705563 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:181705563A>T ENST00000526775.1 + 21 3523 c.3358A>T c.(3358-3360)Acc>Tcc p.T1120S CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1090S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1071S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1139S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1120S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1139S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T746S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1139 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTTCAGCACCACCAACCCGTA 0.577000 5 13 0 0 0.000602 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092986 151092986 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:151092986T>A ENST00000370340.3 + 3 1117 c.850T>A c.(850-852)Tat>Aat p.Y284N MAGEA4_ENST00000393921.1_Missense_Mutation_p.Y284N|MAGEA4_ENST00000276344.2_Missense_Mutation_p.Y284N|MAGEA4_ENST00000360243.2_Missense_Mutation_p.Y284N|MAGEA4_ENST00000370337.4_Missense_Mutation_p.Y284N|MAGEA4_ENST00000393920.1_Missense_Mutation_p.Y284N|MAGEA4_ENST00000370335.1_Missense_Mutation_p.Y284N P43358 MAGA4_HUMAN melanoma antigen family A, 4 284 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) TGAAACCAGCTATGTGAAAGT 0.552000 85 59 0 0 0.003610 0 0 RPH3A 22895 broad.mit.edu 37 12 113321158 113321158 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:113321158C>T ENST00000389385.4 + 16 1884 c.1387C>T c.(1387-1389)Ctc>Ttc p.L463F RPH3A_ENST00000415485.3_Missense_Mutation_p.L463F|RPH3A_ENST00000447659.2_Missense_Mutation_p.L414F|RPH3A_ENST00000548866.1_Missense_Mutation_p.L414F|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.L459F|RPH3A_ENST00000420983.2_Missense_Mutation_p.L463F|RPH3A_ENST00000543106.2_Missense_Mutation_p.L463F NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 463 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GAATGAGACCCTCGTGTATCA 0.562000 10 23 0 0 0.000443 0 0 KANK4 163782 broad.mit.edu 37 1 62728768 62728768 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:62728768C>T ENST00000371153.4 - 7 2913 c.2535G>A c.(2533-2535)gaG>gaA p.E845E KANK4_ENST00000354381.3_Silent_p.E217E|KANK4_ENST00000371150.1_Silent_p.E201E|KANK4_ENST00000317477.4_5'UTR NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 845 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TCTGACCTGTCTCCAGCAGCA 0.458000 10 10 0 0 0.000443 0 0 ME2 4200 broad.mit.edu 37 18 48439273 48439273 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:48439273G>T ENST00000321341.5 + 4 617 c.345G>T c.(343-345)acG>acT p.T115T ME2_ENST00000382927.3_Silent_p.T115T NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 115 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) ATACACCGACGGTTGGTCTTG 0.323000 66 54 1.1794e-34 3.00389e-34 0.003610 1 0 ZFP42 132625 broad.mit.edu 37 4 188924241 188924241 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:188924241T>A ENST00000326866.4 + 4 688 c.280T>A c.(280-282)Tcc>Acc p.S94T ZFP42_ENST00000509524.1_Missense_Mutation_p.S94T NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 94 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) ACTTTTTGAGTCCTTGGAATA 0.428000 34 58 0 0 0.002445 0 0 OR4C15 81309 broad.mit.edu 37 11 55322574 55322574 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55322574C>T ENST00000314644.2 + 1 792 c.792C>T c.(790-792)ttC>ttT p.F264F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TCATAAACTTCTCCTTGTTGC 0.483000 HNSCC(20;0.049) 28 89 0 0 0.001271 0 0 BTNL8 79908 broad.mit.edu 37 5 180374703 180374703 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:180374703C>T ENST00000231229.4 + 4 1099 c.865C>T c.(865-867)Cca>Tca p.P289S BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.P289S|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000533815.2_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 146 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTCCCACATCCAGCTGCTTC 0.488000 95 230 0 0 0.003610 0 0 STX7 8417 broad.mit.edu 37 6 132824653 132824653 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:132824653C>A ENST00000367941.2 - 2 130 c.17G>T c.(16-18)gGa>gTa p.G6V STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Missense_Mutation_p.G6V NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 6 intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) ACCACCAACTCCTGGAGTGTA 0.413000 31 72 4.11147e-13 8.45464e-13 0.003755 1 0 RUNDC1 146923 broad.mit.edu 37 17 41133041 41133041 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:41133041G>C ENST00000361677.1 + 1 460 c.448G>C c.(448-450)Gag>Cag p.E150Q NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 150 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CGCCAGCGATGAGGGCGATGG 0.697000 4 6 0 0 0.000248 0 0 PEG3 5178 broad.mit.edu 37 19 57335011 57335011 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:57335011A>T ENST00000326441.9 - 5 794 c.431T>A c.(430-432)aTg>aAg p.M144K ZIM2_ENST00000601070.1_Missense_Mutation_p.M18K|ZIM2_ENST00000599935.1_Missense_Mutation_p.M18K|ZIM2_ENST00000391708.3_Missense_Mutation_p.M18K|PEG3_ENST00000598410.1_Missense_Mutation_p.M18K|ZIM2_ENST00000593931.1_Missense_Mutation_p.M18K|ZIM2_ENST00000593711.1_Missense_Mutation_p.M18K|PEG3_ENST00000423103.2_Missense_Mutation_p.M144K|ZIM2_ENST00000221722.5_Missense_Mutation_p.M18K|PEG3_ENST00000593695.1_Missense_Mutation_p.M18K NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 144 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GTTCCGGGTCATGTCGTCGTC 0.552000 29 62 0 0 0.003755 0 0 LITAF 9516 broad.mit.edu 37 16 11647435 11647435 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:11647435C>A ENST00000571688.1 - 3 561 c.331G>T c.(331-333)Gcc>Tcc p.A111S LITAF_ENST00000413364.2_Missense_Mutation_p.A111S|LITAF_ENST00000381810.3_Missense_Mutation_p.A111S|LITAF_ENST00000339430.5_Missense_Mutation_p.A111S|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000570904.1_Missense_Mutation_p.A111S|LITAF_ENST00000576036.1_Missense_Mutation_p.A111S|LITAF_ENST00000574763.1_Missense_Mutation_p.A111S|LITAF_ENST00000572255.1_Missense_Mutation_p.A18S|LITAF_ENST00000571976.1_Missense_Mutation_p.A111S NM_001136472.1 NP_001129944.1 Q99732 LITAF_HUMAN lipopolysaccharide-induced TNF factor 111 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|lysosomal membrane signal transducer activity|WW domain binding endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1) 7 AGAGCACCGGCGTTATAGGAC 0.592000 13 39 9.31168e-06 1.61108e-05 0.001855 1 0 PLAA 9373 broad.mit.edu 37 9 26905641 26905641 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:26905641A>G ENST00000397292.3 - 14 2673 c.2256T>C c.(2254-2256)ctT>ctC p.L752L NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 752 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) CATCACTGATAAGTGTTCCAA 0.373000 18 53 0 0 0.004990 0 0 DNAH5 1767 broad.mit.edu 37 5 13788868 13788868 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:13788868G>T ENST00000265104.4 - 51 8708 c.8604C>A c.(8602-8604)gaC>gaA p.D2868E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2868 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAAAATATGTGTCAATTCCAC 0.413000 Kartagener syndrome 26 83 2.44723e-14 5.21401e-14 0.004656 1 0 OPA3 80207 broad.mit.edu 37 19 46056875 46056875 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:46056875T>A ENST00000263275.4 - 2 491 c.437A>T c.(436-438)cAg>cTg p.Q146L OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.Q93L NM_025136.3 NP_079412.1 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 146 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CAGGGCGCCCTGTGGCGGCGC 0.716000 13 39 0 0 0.001368 0 0 DNAH5 1767 broad.mit.edu 37 5 13864714 13864714 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:13864714C>A ENST00000265104.4 - 28 4492 c.4388G>T c.(4387-4389)tGg>tTg p.W1463L CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1463 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAAGCCTGCCAGTCCTTCAA 0.507000 Kartagener syndrome 23 51 9.95505e-16 2.18597e-15 0.002299 1 0 PDGFRA 5156 broad.mit.edu 37 4 55139799 55139799 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:55139799G>C ENST00000257290.5 + 10 1791 c.1460G>C c.(1459-1461)cGt>cCt p.R487P FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 487 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTGGAGGGCCGTGTGACTTTC 0.522000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 28 78 0 0 0.005443 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443437 5443437 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:5443437C>A ENST00000300778.4 + 1 97 c.7C>A c.(7-9)Cag>Aag p.Q3K HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTCATGTCCCAGGTGACTAA 0.448000 36 77 7.11191e-15 1.5348e-14 0.002836 1 0 MMP20 9313 broad.mit.edu 37 11 102477375 102477375 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:102477375G>C ENST00000260228.2 - 6 856 c.844C>G c.(844-846)Ctg>Gtg p.L282V MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 282 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GCATGGGGCAGAGTGGGCTTC 0.522000 19 47 0 0 0.000958 0 0 RHAG 6005 broad.mit.edu 37 6 49578777 49578777 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:49578777G>T ENST00000371175.4 - 7 1053 c.1027C>A c.(1027-1029)Ctt>Att p.L343I RHAG_ENST00000229810.7_Intron NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 343 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) ATGCCTGCAAGGCCTCCCACT 0.473000 50 48 2.9001e-28 7.23943e-28 0.003610 1 0 CCDC14 64770 broad.mit.edu 37 3 123633847 123633847 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:123633847G>T ENST00000485727.1 - 9 6633 c.2041C>A c.(2041-2043)Cat>Aat p.H681N CCDC14_ENST00000433542.2_Missense_Mutation_p.H840N|CCDC14_ENST00000310351.4_Missense_Mutation_p.H721N|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000488653.2_Missense_Mutation_p.H881N|CCDC14_ENST00000489746.1_Missense_Mutation_p.H681N Q49A88 CCD14_HUMAN coiled-coil domain containing 14 881 centrosome NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) GATGGGCCATGACATGCAGTT 0.458000 18 89 3.41278e-10 6.65642e-10 0.004990 1 0 C10orf120 399814 broad.mit.edu 37 10 124457725 124457725 + Missense_Mutation SNP C C T rs148798284 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:124457725C>T ENST00000329446.4 - 3 563 c.532G>A c.(532-534)Gga>Aga p.G178R NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 178 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) TGATGATTTCCCAGAGCCCGA 0.502000 35 85 0 0 0.003271 0 0 RGS3 5998 broad.mit.edu 37 9 116353656 116353656 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:116353656G>T ENST00000374140.2 + 22 3268 c.3059G>T c.(3058-3060)cGg>cTg p.R1020L RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.R341L|RGS3_ENST00000350696.5_Missense_Mutation_p.R1020L|RGS3_ENST00000343817.5_Missense_Mutation_p.R739L|RGS3_ENST00000462143.1_Missense_Mutation_p.R341L|RGS3_ENST00000394646.3_Missense_Mutation_p.R413L NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 1020 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GAAGCCTCCCGGAAGAGAAAG 0.587000 24 63 2.44723e-14 5.21401e-14 0.004656 1 0 NLRP4 147945 broad.mit.edu 37 19 56382227 56382227 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:56382227G>A ENST00000301295.6 + 7 2811 c.2389G>A c.(2389-2391)Gaa>Aaa p.E797K NLRP4_ENST00000587891.1_Missense_Mutation_p.E722K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E741K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 797 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCAGTGCTGCGAATACATCTC 0.512000 25 51 0 0 0.001061 0 0 TNKS 8658 broad.mit.edu 37 8 9609323 9609323 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:9609323G>T ENST00000310430.6 + 19 3063 c.3037G>T c.(3037-3039)Ggc>Tgc p.G1013C TNKS_ENST00000518281.1_Missense_Mutation_p.G776C NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1013 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) TGCAGGGGATGGCGCCGCGGG 0.522000 39 101 5.44703e-19 1.27118e-18 0.002222 1 0 PRIMA1 145270 broad.mit.edu 37 14 94187840 94187840 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:94187840T>G ENST00000393140.1 - 5 514 c.412A>C c.(412-414)Agt>Cgt p.S138R PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Missense_Mutation_p.S138R NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 138 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) TGCGAAGCACTCATGGGATAC 0.587000 14 36 0 0 0.003163 0 0 FBN2 2201 broad.mit.edu 37 5 127671152 127671152 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:127671152C>T ENST00000508053.1 - 35 4816 c.3842G>A c.(3841-3843)tGt>tAt p.C1281Y FBN2_ENST00000508989.1_Missense_Mutation_p.C1248Y|FBN2_ENST00000262464.4_Missense_Mutation_p.C1281Y|FBN2_ENST00000507835.1_Missense_Mutation_p.C131Y P35556 FBN2_HUMAN fibrillin 2 1281 EGF-like 19; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TATACCTGCACACGATCTCCC 0.433000 26 98 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9059658 9059658 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:9059658G>C ENST00000397910.4 - 3 27991 c.27788C>G c.(27787-27789)aCa>aGa p.T9263R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9265 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGAACATTTGTATCTCCTGT 0.473000 29 90 0 0 0.001061 0 0 CRLF2 64109 broad.mit.edu 37 X 1317518 1317518 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:1317518A>G ENST00000381567.3 - 5 546 c.547T>C c.(547-549)Ttc>Ctc p.F183L CRLF2_ENST00000467626.1_Intron NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 183 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTGACCCAGAAAGAGTAACAC 0.507000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 26 54 0 0 0.001061 0 0 C2orf53 339779 broad.mit.edu 37 2 27360306 27360306 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:27360306A>T ENST00000335524.3 - 3 1417 c.892T>A c.(892-894)Ttc>Atc p.F298I NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 298 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGAGGCCGAAGCCGATGCCT 0.657000 15 36 0 0 0.004990 0 0 OR5T2 219464 broad.mit.edu 37 11 55999944 55999944 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55999944A>T ENST00000313264.4 - 1 793 c.718T>A c.(718-720)Tac>Aac p.Y240N NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) CCCACAAAGTAGAAGAGTAGA 0.438000 35 100 0 0 0.003271 0 0 NAV2 89797 broad.mit.edu 37 11 20066746 20066746 + Silent SNP C C T rs140697093 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:20066746C>T ENST00000396085.1 + 14 3793 c.3432C>T c.(3430-3432)agC>agT p.S1144S NAV2_ENST00000540292.1_Silent_p.S1098S|NAV2_ENST00000533917.1_Silent_p.S230S|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Silent_p.S230S|NAV2_ENST00000396087.3_Silent_p.S1167S|NAV2_ENST00000360655.4_Silent_p.S1080S|NAV2_ENST00000349880.4_Silent_p.S1144S|NAV2_ENST00000527559.2_Silent_p.S1096S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1167 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CTGTCACCAGCAGGTCAGCCA 0.577000 19 79 0 0 0.002299 0 0 NRXN1 9378 broad.mit.edu 37 2 50779857 50779857 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:50779857T>C ENST00000404971.1 - 10 3086 c.1747A>G c.(1747-1749)Att>Gtt p.I583V NRXN1_ENST00000405472.3_Missense_Mutation_p.I535V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.I535V|NRXN1_ENST00000401669.2_Missense_Mutation_p.I543V|NRXN1_ENST00000406316.2_Missense_Mutation_p.I543V|NRXN1_ENST00000406859.3_Missense_Mutation_p.I543V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 543 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGCATCTCAATAGCAAAGAAG 0.443000 27 79 0 0 0.005443 0 0 ABCA13 154664 broad.mit.edu 37 7 48619833 48619833 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:48619833C>A ENST00000435803.1 + 56 14392 c.14368C>A c.(14368-14370)Ctg>Atg p.L4790M ABCA13_ENST00000544596.1_Missense_Mutation_p.L520M NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4790 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CGCCGTGGACCTGTCTTCTGC 0.522000 4 8 2.7689e-08 5.15508e-08 0.001984 1 0 MFHAS1 9258 broad.mit.edu 37 8 8750112 8750112 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:8750112G>C ENST00000276282.6 - 1 1043 c.457C>G c.(457-459)Cag>Gag p.Q153E NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 153 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GCGCCCAGCTGGGCGGGCAGG 0.692000 6 13 0 0 0.001168 0 0 TECTA 7007 broad.mit.edu 37 11 120998532 120998532 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:120998532G>T ENST00000392793.1 + 9 2117 c.1846G>T c.(1846-1848)Gac>Tac p.D616Y TECTA_ENST00000264037.2_Missense_Mutation_p.D616Y O75443 TECTA_HUMAN tectorin alpha 616 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CACATGCTCCGACCTGACGGC 0.642000 26 70 1.5548e-18 3.57444e-18 0.005443 1 0 TSHZ3 57616 broad.mit.edu 37 19 31769884 31769884 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:31769884T>A ENST00000240587.4 - 2 1142 c.815A>T c.(814-816)cAg>cTg p.Q272L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 272 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CAGCACCTTCTGGGCGTCTTC 0.512000 44 148 0 0 0.002852 0 0 C17orf47 284083 broad.mit.edu 37 17 56619276 56619276 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:56619276C>A ENST00000321691.3 - 2 1794 c.1613G>T c.(1612-1614)tGc>tTc p.C538F RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 538 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAGGGAAAAGCACAGACCTTT 0.493000 46 102 2.00842e-17 4.5393e-17 0.002522 1 0 KIFAP3 22920 broad.mit.edu 37 1 169941740 169941740 + Splice_Site SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:169941740C>G ENST00000367765.1 - 17 3279 c.e17-1 KIFAP3_ENST00000367767.1_Splice_Site|KIFAP3_ENST00000540905.1_Splice_Site|KIFAP3_ENST00000361580.2_Splice_Site|KIFAP3_ENST00000538366.1_Splice_Site NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTGGAGCCTCTGAATAAAAA 0.279000 7 18 0 0 0.003080 0 0 ABL2 27 broad.mit.edu 37 1 179077050 179077050 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:179077050C>A ENST00000502732.1 - 12 3555 c.3352G>T c.(3352-3354)Gac>Tac p.D1118Y ABL2_ENST00000367623.4_Missense_Mutation_p.D1097Y|ABL2_ENST00000344730.3_Missense_Mutation_p.D1000Y|ABL2_ENST00000511413.1_Missense_Mutation_p.D1015Y|ABL2_ENST00000507173.1_Missense_Mutation_p.D994Y|ABL2_ENST00000504405.1_Missense_Mutation_p.D979Y|ABL2_ENST00000512653.1_Missense_Mutation_p.D1103Y|ABL2_ENST00000408940.3_Missense_Mutation_p.D1082Y NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 1118 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GAGCAGTAGTCAAGCAGCTGG 0.552000 T ETV6 AML 15 45 7.93312e-07 1.41401e-06 0.002450 1 0 ACACB 32 broad.mit.edu 37 12 109650676 109650676 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:109650676G>C ENST00000338432.7 + 22 3404 c.3285G>C c.(3283-3285)ctG>ctC p.L1095L ACACB_ENST00000377848.3_Silent_p.L1095L|ACACB_ENST00000377854.5_Silent_p.L1095L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1095 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CAGCCACCCTGCAGCGGAAGG 0.542000 45 114 0 0 0.003610 0 0 TNN 63923 broad.mit.edu 37 1 175067479 175067479 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:175067479C>G ENST00000239462.4 + 9 1980 c.1867C>G c.(1867-1869)Ccc>Gcc p.P623A NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 623 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TATTGACAGCCCCAAAAACCT 0.507000 40 122 0 0 0.004878 0 0 HDC 3067 broad.mit.edu 37 15 50534984 50534984 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:50534984C>A ENST00000267845.3 - 12 1864 c.1462G>T c.(1462-1464)Ggg>Tgg p.G488W HDC_ENST00000543581.1_Missense_Mutation_p.G455W NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 488 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ATGAGGTTCCCAACCCGAGGG 0.567000 16 30 1.5739e-10 3.08478e-10 0.004007 1 0 ESX1 80712 broad.mit.edu 37 X 103495025 103495025 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:103495025C>A ENST00000372588.4 - 4 1188 c.1105G>T c.(1105-1107)Ggg>Tgg p.G369W NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 369 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 ATGGGCGGCCCGGGTGGCAGA 0.701000 11 11 0.000673444 0.00110787 0.000673 1 0 EBF2 64641 broad.mit.edu 37 8 25715905 25715905 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:25715905G>T ENST00000520164.1 - 14 1995 c.1458C>A c.(1456-1458)ccC>ccA p.P486P EBF2_ENST00000535548.1_Silent_p.P217P|EBF2_ENST00000408929.3_Silent_p.P338P NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 486 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AGTTGGCCATGGGGACATTGC 0.522000 32 59 2.85442e-18 6.53228e-18 0.002096 1 0 DPYD 1806 broad.mit.edu 37 1 97771816 97771816 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:97771816C>A ENST00000370192.3 - 17 2196 c.2096G>T c.(2095-2097)aGg>aTg p.R699M DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 699 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AACAGCTTGCCTAACCCAGCG 0.423000 41 157 6.45866e-13 1.32271e-12 0.001951 1 0 TAS2R38 5726 broad.mit.edu 37 7 141673292 141673292 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:141673292G>T ENST00000547270.1 - 1 281 c.198C>A c.(196-198)ttC>ttA p.F66L NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 66 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GTCCATGCAGGAAAAGCCGGC 0.493000 37 85 2.42023e-17 5.45776e-17 0.003271 1 0 AASDH 132949 broad.mit.edu 37 4 57215852 57215852 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:57215852A>T ENST00000205214.6 - 11 2245 c.2065T>A c.(2065-2067)Tct>Act p.S689T AASDH_ENST00000502617.1_Missense_Mutation_p.S689T|AASDH_ENST00000602986.1_Missense_Mutation_p.S536T|AASDH_ENST00000451613.1_Missense_Mutation_p.S689T|AASDH_ENST00000513376.1_Missense_Mutation_p.S589T|AASDH_ENST00000434343.2_Missense_Mutation_p.S204T NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 689 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GAATTCAGAGACAAAATTTGA 0.393000 24 79 0 0 0.002299 0 0 PDCD4 27250 broad.mit.edu 37 10 112647635 112647635 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:112647635A>T ENST00000393104.2 + 7 1095 c.735A>T c.(733-735)agA>agT p.R245S PDCD4_ENST00000280154.7_Missense_Mutation_p.R256S|PDCD4_ENST00000481353.1_3'UTR NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 256 MI 1. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) ATACTCCTAGAGCACCACAGG 0.353000 14 28 0 0 0.002450 0 0 HSD3B2 3284 broad.mit.edu 37 1 119958051 119958051 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:119958051G>T ENST00000543831.1 + 2 258 c.9G>T c.(7-9)tgG>tgT p.W3C HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.W3C NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 3 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CGATGGGCTGGAGCTGCCTTG 0.552000 24 71 7.87624e-14 1.65525e-13 0.002780 1 0 PCMT1 5110 broad.mit.edu 37 6 150094294 150094294 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:150094294G>T ENST00000464889.1 + 3 639 c.355G>T c.(355-357)Gct>Tct p.A119S PCMT1_ENST00000544496.1_Missense_Mutation_p.A26S|PCMT1_ENST00000367380.5_Missense_Mutation_p.A61S|PCMT1_ENST00000367384.2_Missense_Mutation_p.A119S|PCMT1_ENST00000367378.1_Missense_Mutation_p.A119S protein-L-isoaspartate (D-aspartate) O-methyltransferase kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.221) OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207) AACAATCAGTGCTCCACACAT 0.303000 20 45 6.21321e-17 1.39173e-16 0.002780 1 0 MCF2L2 23101 broad.mit.edu 37 3 182924003 182924003 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:182924003C>A ENST00000328913.3 - 24 3010 c.e24-1 MCF2L2_ENST00000473233.1_Splice_Site|MCF2L2_ENST00000468976.1_Splice_Site NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GTGTCATCAGCTATTATAAAG 0.408000 25 133 4.26978e-12 8.57802e-12 0.003330 1 0 TBL1Y 90665 broad.mit.edu 37 Y 6958154 6958154 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:6958154C>A ENST00000383032.1 + 18 2118 c.1471C>A c.(1471-1473)Caa>Aaa p.Q491K TBL1Y_ENST00000355162.2_Missense_Mutation_p.Q491K|TBL1Y_ENST00000346432.3_Missense_Mutation_p.Q491K NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 491 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 CCACAGCTACCAAGGCACTGG 0.532000 11 11 7.03913e-09 1.32778e-08 0.001368 1 0 DNAH8 1769 broad.mit.edu 37 6 38885916 38885916 + Splice_Site SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:38885916G>A ENST00000359357.3 + 68 10127 c.9873_splice c.e68+1 p.K3291_splice DNAH8_ENST00000449981.2_Splice_Site_p.K3508_splice|DNAH8_ENST00000441566.1_Splice_Site_p.K3255_splice 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 TGCCTCTGAAGGTAAAAGTTT 0.373000 13 48 0 0 0.001368 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332882 100332882 + RNA SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:100332882C>A ENST00000341853.1 - 0 1309 NR_003260.1 GAGCCTGGTCCAGGAGCCCCA 0.622000 13 34 9.31168e-06 1.61108e-05 0.001855 1 0 CXADRP3 440224 broad.mit.edu 37 18 14478763 14478763 + RNA SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:14478763G>T ENST00000581457.1 - 0 1145 NR_024076.1 TAATGGAAGTGAACCTTCTTT 0.353000 10 40 1.58986e-06 2.799e-06 0.000673 1 0 CACNA1E 777 broad.mit.edu 37 1 181754552 181754552 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:181754552C>G ENST00000526775.1 + 41 5785 c.5620C>G c.(5620-5622)Cag>Gag p.Q1874E CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1844E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1825E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q1893E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1874E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1893E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1500E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1893 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.Q1893E(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCTGGAGGAACAGGTGAAAGT 0.537000 6 19 0 0 0.001168 0 0 PRR14L 253143 broad.mit.edu 37 22 32072838 32072838 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:32072838T>A ENST00000397493.2 - 9 6538 c.6346A>T c.(6346-6348)Agg>Tgg p.R2116W Q5THK1 PR14L_HUMAN proline rich 14-like 0 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 AGCAGCCTCCTCCAATATGGA 0.667000 5 14 0 0 0.000602 0 0 OR8H3 390152 broad.mit.edu 37 11 55890065 55890065 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55890065A>G ENST00000313472.3 + 1 217 c.217A>G c.(217-219)Agt>Ggt p.S73G NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TATTGACCTCAGTTACTCAAC 0.443000 85 224 0 0 0.003610 0 0 SGK223 157285 broad.mit.edu 37 8 8185684 8185684 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:8185684G>A ENST00000520004.1 - 5 2872 c.2608C>T c.(2608-2610)Cac>Tac p.H870Y SGK223_ENST00000330777.4_Missense_Mutation_p.H870Y Q86YV5 SG223_HUMAN 870 ATP binding|non-membrane spanning protein tyrosine kinase activity ACAGGATGGTGGCGGTTCCCG 0.592000 91 239 0 0 0.003610 0 0 ASPH 444 broad.mit.edu 37 8 62566183 62566183 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:62566183G>A ENST00000541428.1 - 4 432 c.272C>T c.(271-273)cCg>cTg p.P91L ASPH_ENST00000522835.1_Missense_Mutation_p.P106L|ASPH_ENST00000356457.5_Missense_Mutation_p.P120L|ASPH_ENST00000379454.4_Missense_Mutation_p.P120L|ASPH_ENST00000517847.2_Missense_Mutation_p.P106L|ASPH_ENST00000445642.3_Missense_Mutation_p.P106L|ASPH_ENST00000517903.1_Missense_Mutation_p.P106L|ASPH_ENST00000518068.1_Missense_Mutation_p.P120L NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 120 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTCTTCTGGCGGGACTGCTGG 0.502000 7 30 0 0 0.003080 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887082 9887082 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:9887082C>G ENST00000306084.6 + 2 805 c.606C>G c.(604-606)atC>atG p.I202M TXNDC2_ENST00000357775.4_Missense_Mutation_p.I135M|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 202 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AAGAAGCCATCCAGCCCAAAG 0.577000 55 534 0 0 0.003610 0 0 RP1L1 94137 broad.mit.edu 37 8 10470038 10470038 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:10470038T>A ENST00000382483.3 - 4 1793 c.1570A>T c.(1570-1572)Agg>Tgg p.R524W NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 524 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTCCGGGCCCTCGGTGTCAGG 0.697000 22 67 0 0 0.002780 0 0 DNAH10 196385 broad.mit.edu 37 12 124383262 124383262 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:124383262G>T ENST00000409039.3 + 55 9212 c.9187G>T c.(9187-9189)Gag>Tag p.E3063* NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3063 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCAGCTGGACGAGCTGAACCA 0.617000 3 12 6.4e-05 0.000107782 0.004672 1 0 CACNA1I 8911 broad.mit.edu 37 22 40042659 40042659 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:40042659T>C ENST00000336649.4 + 10 1235 c.1235T>C c.(1234-1236)aTg>aCg p.M412T CACNA1I_ENST00000400164.3_Missense_Mutation_p.M412T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.M412T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.M412T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.M412T|CACNA1I_ENST00000402142.3_Missense_Mutation_p.M412T Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 412 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CACCGGCTGATGCTGGAGCAG 0.607000 5 7 0 0 0.000602 0 0 SAMSN1 64092 broad.mit.edu 37 21 15872886 15872886 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:15872886C>A ENST00000285670.2 - 7 1110 c.936G>T c.(934-936)aaG>aaT p.K312N SAMSN1_ENST00000400564.1_Missense_Mutation_p.K76N|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400566.1_Missense_Mutation_p.K244N NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 244 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) CCTGCAGAGTCTTGGATTTTT 0.433000 10 57 2.80697e-09 5.32476e-09 0.000978 1 0 ENKUR 219670 broad.mit.edu 37 10 25279433 25279433 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:25279433T>C ENST00000331161.4 - 4 772 c.553A>G c.(553-555)Atg>Gtg p.M185V ENKUR_ENST00000376363.1_Missense_Mutation_p.M185V NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein 185 IQ. cilium|flagellum calmodulin binding|SH3 domain binding endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 AGCCTTTTCATAGCTGCTTTC 0.408000 22 43 0 0 0.001523 0 0 AMPD2 271 broad.mit.edu 37 1 110170415 110170415 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:110170415C>A ENST00000256578.3 + 9 1492 c.1132C>A c.(1132-1134)Cgg>Agg p.R378R AMPD2_ENST00000358729.4_Silent_p.R303R|AMPD2_ENST00000393688.3_Silent_p.R259R|AMPD2_ENST00000342115.4_Silent_p.R297R|AMPD2_ENST00000528667.1_Silent_p.R378R|AMPD2_ENST00000528454.1_Silent_p.R260R|AMPD2_ENST00000526301.1_3'UTR NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 378 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CTGCTACCGCCGGCTGCAGTA 0.557000 13 41 1.36491e-13 2.85055e-13 0.001855 1 0 AFMID 125061 broad.mit.edu 37 17 76200969 76200969 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:76200969A>G ENST00000409257.5 + 6 509 c.455A>G c.(454-456)tAt>tGt p.Y152C AFMID_ENST00000327898.5_Missense_Mutation_p.Y152C|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 152 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CAGAAGCGGTATCCAAGCAAC 0.557000 11 26 0 0 0.000673 0 0 GSC 145258 broad.mit.edu 37 14 95234861 95234861 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95234861C>A ENST00000238558.3 - 3 950 c.741G>T c.(739-741)gaG>gaT p.E247D NM_173849.2 NP_776248.1 P56915 GSC_HUMAN goosecoid homeobox 247 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) TTTTACCTTCCTCTTCCCTCT 0.562000 39 104 8.16277e-20 1.9161e-19 0.001485 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686094 125686094 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:125686094G>T ENST00000371126.1 - 1 740 c.498C>A c.(496-498)acC>acA p.T166T NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 166 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TTTCGCCGCCGGTGGCCAGAA 0.657000 22 7 3.62473e-10 7.0561e-10 0.001882 1 0 HRNR 388697 broad.mit.edu 37 1 152192079 152192079 + Missense_Mutation SNP C C T rs141565920 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:152192079C>T ENST00000368801.2 - 3 2101 c.2026G>A c.(2026-2028)Ggc>Agc p.G676S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 676 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGGCCGTAGCTGGAA 0.587000 90 178 0 0 0.003610 0 0 MS4A3 932 broad.mit.edu 37 11 59829952 59829952 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:59829952C>A ENST00000278865.3 + 3 241 c.168C>A c.(166-168)atC>atA p.I56I MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000534744.1_Intron NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 56 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) CCATCCAGATCCTGAATGCAG 0.423000 30 80 1.30897e-18 3.03361e-18 0.001786 1 0 CORO1B 57175 broad.mit.edu 37 11 67206199 67206199 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:67206199G>T ENST00000393893.1 - 11 1390 c.1287C>A c.(1285-1287)ccC>ccA p.P429P CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Silent_p.P429P NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 429 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) TGGTGGAGGCGGGGGCCCCTA 0.716000 3 7 1.23904e-05 2.12907e-05 0.000602 1 0 AUP1 550 broad.mit.edu 37 2 74754875 74754875 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:74754875G>A ENST00000377526.3 - 8 1138 c.829C>T c.(829-831)Cgc>Tgc p.R277C NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 343 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 GACTGGGGGCGCAATCTGGGG 0.512000 50 129 0 0 0.003610 0 0 SALL1 6299 broad.mit.edu 37 16 51175026 51175026 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:51175026C>G ENST00000440970.1 - 2 1247 c.816G>C c.(814-816)gcG>gcC p.A272A SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.A369A|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 369 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATGATGAGACCGCTGGGTTGC 0.512000 14 37 0 0 0.001855 0 0 ADRA2B 151 broad.mit.edu 37 2 96780851 96780851 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:96780851C>A ENST00000409345.3 - 1 1133 c.1038G>T c.(1036-1038)gtG>gtT p.V346V NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 349 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CTATAGCACCCACGCCCCTGC 0.677000 7 16 0.00198382 0.00323176 0.001984 1 0 COL19A1 1310 broad.mit.edu 37 6 70847590 70847590 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:70847590T>A ENST00000322773.4 + 19 1499 c.1397T>A c.(1396-1398)cTa>cAa p.L466Q COL19A1_ENST00000393344.1_Missense_Mutation_p.L88Q NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 466 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GAAACTGGACTACCAGGATTT 0.408000 36 104 0 0 0.001706 0 0 C5orf42 65250 broad.mit.edu 37 5 37181062 37181062 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:37181062C>A ENST00000274258.7 - 27 5697 c.2110G>T c.(2110-2112)Gag>Tag p.E704* C5orf42_ENST00000425232.2_Nonsense_Mutation_p.E1823*|C5orf42_ENST00000508244.1_Nonsense_Mutation_p.E1823* E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1823 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CTCTCCCTCTCAATATTGGGT 0.388000 9 33 4.68919e-08 8.65e-08 0.000673 1 0 C7orf10 79783 broad.mit.edu 37 7 40498771 40498771 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:40498771A>G ENST00000309930.5 + 11 1005 c.981A>G c.(979-981)aaA>aaG p.K327K C7orf10_ENST00000401647.2_Silent_p.K279K|C7orf10_ENST00000335693.4_Silent_p.K327K NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 327 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 ACAATAGAAAAGAGCTTATTA 0.279000 7 31 0 0 0.003080 0 0 NLRP4 147945 broad.mit.edu 37 19 56370017 56370017 + Silent SNP C C A rs140509890 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:56370017C>A ENST00000301295.6 + 3 1680 c.1258C>A c.(1258-1260)Cgg>Agg p.R420R NLRP4_ENST00000587891.1_Silent_p.R345R|NLRP4_ENST00000346986.5_Silent_p.R420R NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 420 NACHT. ATP binding p.R420W(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGACGACCTCCGGAGAAATGG 0.582000 32 104 4.74835e-14 1.0021e-13 0.002096 1 0 CCNB3 85417 broad.mit.edu 37 X 50053222 50053222 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:50053222A>C ENST00000376042.1 + 6 2351 c.2053A>C c.(2053-2055)Aaa>Caa p.K685Q CCNB3_ENST00000276014.7_Missense_Mutation_p.K685Q|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 685 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GCATACCAACAAAAGTGGGTC 0.463000 10 10 0 0 0.000673 0 0 LRAT 9227 broad.mit.edu 37 4 155665738 155665738 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:155665738G>T ENST00000336356.3 + 2 513 c.260G>T c.(259-261)cGc>cTc p.R87L LRAT_ENST00000507827.1_Missense_Mutation_p.R87L NM_004744.3 NP_004735.2 O95237 LRAT_HUMAN lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 87 response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9) 16 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GACATGGGGCGCACGCAGAAG 0.597000 20 51 1.56452e-12 3.17814e-12 0.000958 1 0 PEBP4 157310 broad.mit.edu 37 8 22675246 22675246 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:22675246G>T ENST00000256404.6 - 4 352 c.261C>A c.(259-261)ggC>ggA p.G87G PEBP4_ENST00000521284.1_5'UTR NM_144962.2 NP_659399.2 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 87 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) TATAGGTTGCGCCCTGTAACA 0.493000 29 56 5.45727e-16 1.21025e-15 0.001512 1 0 CPSF1 29894 broad.mit.edu 37 8 145626066 145626066 + Splice_Site SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:145626066C>T ENST00000349769.3 - 7 779 c.686_splice c.e7+1 p.G229_splice NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 229 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GGGGCTCACCCAGGCCAGGTC 0.637000 8 19 0 0 0.003080 0 0 CCNB3 85417 broad.mit.edu 37 X 50052855 50052855 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:50052855T>A ENST00000376042.1 + 6 1984 c.1686T>A c.(1684-1686)tcT>tcA p.S562S CCNB3_ENST00000276014.7_Silent_p.S562S|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 562 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) ATAAGAATTCTTTCTTTATGG 0.373000 10 10 0 0 0.000443 0 0 ZNF385D 79750 broad.mit.edu 37 3 21606087 21606087 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:21606087G>T ENST00000281523.2 - 3 773 c.255C>A c.(253-255)tgC>tgA p.C85* ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 85 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATCTCAACTGGCAAATGTTGC 0.343000 15 28 3.27435e-08 6.06798e-08 0.002450 1 0 OR13C9 286362 broad.mit.edu 37 9 107379790 107379790 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:107379790C>T ENST00000259362.1 - 1 695 c.696G>A c.(694-696)gaG>gaA p.E232E NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TGCTTCTCCCCTCAGAGGAGT 0.428000 19 85 0 0 0.000958 0 0 PRRC2B 84726 broad.mit.edu 37 9 134350269 134350269 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:134350269G>T ENST00000357304.4 + 15 2808 c.2753G>T c.(2752-2754)tGg>tTg p.W918L PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 918 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GAGCCTGAATGGACTCCCGAG 0.642000 8 8 5.18039e-06 9.03305e-06 0.003080 1 0 HSPA13 6782 broad.mit.edu 37 21 15746151 15746151 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:15746151C>A ENST00000285667.3 - 5 1270 c.1203G>T c.(1201-1203)gaG>gaT p.E401D HSPA13_ENST00000544452.1_Missense_Mutation_p.E193D NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 401 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 CTAAAACCACCTCATCAATCT 0.438000 55 85 2.31418e-15 5.04844e-15 0.003610 1 0 EPHA8 2046 broad.mit.edu 37 1 22927255 22927255 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:22927255G>T ENST00000166244.3 + 14 2562 c.2490G>T c.(2488-2490)gaG>gaT p.E830D NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 830 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCATGTGGGAGGTGCTGGCCT 0.682000 55 45 6.60958e-23 1.61576e-22 0.003610 1 0 CD226 10666 broad.mit.edu 37 18 67562961 67562961 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:67562961C>A ENST00000280200.4 - 4 971 c.703G>T c.(703-705)Gtg>Ttg p.V235L CD226_ENST00000577287.1_Missense_Mutation_p.V80L|CD226_ENST00000582621.1_Missense_Mutation_p.V235L|CD226_ENST00000581982.1_Missense_Mutation_p.V80L NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 235 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) AATCTCATCACGAAGGTTTCG 0.532000 84 72 1.29045e-55 3.33325e-55 0.003610 1 0 COBL 23242 broad.mit.edu 37 7 51261227 51261227 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:51261227T>A ENST00000395542.2 - 3 489 c.305A>T c.(304-306)cAc>cTc p.H102L COBL_ENST00000395540.2_Missense_Mutation_p.H102L|COBL_ENST00000441453.1_Missense_Mutation_p.H102L|COBL_ENST00000265136.7_Missense_Mutation_p.H102L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 102 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AAGGGCATGGTGGGATGGATT 0.413000 10 45 0 0 0.000443 0 0 APOB 338 broad.mit.edu 37 2 21235485 21235485 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:21235485T>A ENST00000233242.1 - 26 4382 c.4255A>T c.(4255-4257)Aca>Tca p.T1419S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1419 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.T1419A(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TATGATAGTGTGAACGTATTC 0.343000 9 45 0 0 0.004482 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608333 84608333 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:84608333T>C ENST00000344803.2 + 4 2995 c.2948T>C c.(2947-2949)cTt>cCt p.L983P NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GTCCCCATCCTTGATCGTCCT 0.488000 67 124 0 0 0.003610 0 0 CRISP2 7180 broad.mit.edu 37 6 49665662 49665662 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:49665662C>A ENST00000339139.4 - 8 662 c.426G>T c.(424-426)tgG>tgT p.W142C NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 142 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAGTCGAGTACCAAACAAGCT 0.313000 20 128 8.34094e-07 1.48407e-06 0.001216 1 0 STXBP5L 9515 broad.mit.edu 37 3 121001149 121001149 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:121001149C>A ENST00000273666.6 + 20 2418 c.2147C>A c.(2146-2148)cCt>cAt p.P716H STXBP5L_ENST00000497029.1_Missense_Mutation_p.P716H|STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P716H NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 716 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AACTTTTATCCTGATTTAACG 0.383000 15 54 1.3612e-06 2.40699e-06 0.003163 1 0 GLUL 2752 broad.mit.edu 37 1 182354693 182354693 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:182354693T>C ENST00000311223.5 - 7 1500 c.e7-2 GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000331872.6_Splice_Site|GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000339526.4_Splice_Site NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) AAATTCCCACTAGAAACGAGA 0.463000 19 51 0 0 0.006122 0 0 CCDC47 57003 broad.mit.edu 37 17 61843413 61843413 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:61843413T>C ENST00000225726.5 - 2 505 c.123A>G c.(121-123)gaA>gaG p.E41E CCDC47_ENST00000582252.1_Silent_p.E41E|CCDC47_ENST00000403162.3_Silent_p.E41E NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 41 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 CATCCTCAAATTCAGCGAAGT 0.443000 59 129 0 0 0.003610 0 0 TRIM51 84767 broad.mit.edu 37 11 55658953 55658953 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55658953G>T ENST00000449290.2 + 7 1296 c.1204G>T c.(1204-1206)Gtt>Ttt p.V402F TRIM51_ENST00000244891.3_Missense_Mutation_p.V259F NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 402 B30.2/SPRY. intracellular zinc ion binding GGTGCAATATGTTCCAAGACC 0.458000 23 65 2.44723e-14 5.21401e-14 0.004656 1 0 GPR101 83550 broad.mit.edu 37 X 136112422 136112422 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:136112422T>A ENST00000298110.1 - 1 1411 c.1412A>T c.(1411-1413)aAg>aTg p.K471M NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 471 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) GCAGAAGAACTTCTTCAGCAT 0.493000 39 20 0 0 0.005524 0 0 AP5Z1 9907 broad.mit.edu 37 7 4830976 4830976 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:4830976G>T ENST00000348624.4 + 17 2478 c.2384G>T c.(2383-2385)aGc>aTc p.S795I AP5Z1_ENST00000490487.1_3'UTR NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 795 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding CGCACGGTCAGCCGGCTGGTG 0.672000 8 7 1.12685e-05 1.94295e-05 0.004482 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6107405 6107405 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:6107405G>T ENST00000409021.3 - 3 868 c.419C>A c.(418-420)gCg>gAg p.A140E JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A140E|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A140E NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 140 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGCCCTGCGCGCCTCCTCGCG 0.701000 5 9 3.59834e-05 6.09954e-05 0.001168 1 0 INHBC 3626 broad.mit.edu 37 12 57843137 57843137 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:57843137C>G ENST00000309668.2 + 2 518 c.391C>G c.(391-393)Cag>Gag p.Q131E INHBC_ENST00000550133.1_Missense_Mutation_p.Q131E NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 131 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 GGAGGTCCAGCAGGCCAGTCT 0.507000 65 181 0 0 0.003610 0 0 STK3 6788 broad.mit.edu 37 8 99779536 99779536 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:99779536T>A ENST00000523601.1 - 5 654 c.255A>T c.(253-255)caA>caT p.Q85H STK3_ENST00000419617.2_Missense_Mutation_p.Q57H NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 57 Protein kinase. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) CAACAGGTACTTGTTTAATTG 0.328000 15 37 0 0 0.003163 0 0 ABCA8 10351 broad.mit.edu 37 17 66871844 66871844 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:66871844C>G ENST00000269080.2 - 34 4418 c.4281G>C c.(4279-4281)acG>acC p.T1427T ABCA8_ENST00000586539.1_Silent_p.T1467T|ABCA8_ENST00000430352.2_Silent_p.T1467T NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1427 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CACCCCTTTCCGTGTTTCTAA 0.488000 12 32 0 0 0.002450 0 0 AMDHD2 51005 broad.mit.edu 37 16 2578355 2578355 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:2578355G>C ENST00000302956.4 + 7 930 c.836G>C c.(835-837)cGg>cCg p.R279P AMDHD2_ENST00000293971.6_Missense_Mutation_p.R279P|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R279P|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 279 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 GCCGCCCTGCGGATCGCCCAC 0.672000 15 68 0 0 0.004007 0 0 SEMA5B 54437 broad.mit.edu 37 3 122642512 122642512 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:122642512G>T ENST00000195173.4 - 10 1527 c.1224C>A c.(1222-1224)aaC>aaA p.N408K SEMA5B_ENST00000357599.3_Missense_Mutation_p.N408K|SEMA5B_ENST00000451055.2_Missense_Mutation_p.N462K Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 408 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CAGCCCTGGGGTTCTCCTGGT 0.557000 31 135 1.88708e-17 4.26987e-17 0.001512 1 0 RYR1 6261 broad.mit.edu 37 19 38956797 38956797 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:38956797G>C ENST00000355481.4 + 24 3068 c.2937G>C c.(2935-2937)gcG>gcC p.A979A RYR1_ENST00000360985.3_Silent_p.A979A|RYR1_ENST00000359596.3_Silent_p.A979A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 979 6 X approximate repeats. 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) TGACGCCGGCGCAGACGACAC 0.652000 7 18 0 0 0.001984 0 0 E2F2 1870 broad.mit.edu 37 1 23857277 23857277 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:23857277T>A ENST00000361729.2 - 1 435 c.9A>T c.(7-9)caA>caT p.Q3H NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 3 G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) CCCGGGGCCCTTGCAGCATAG 0.721000 9 7 0 0 0.004482 0 0 AFP 174 broad.mit.edu 37 4 74318195 74318195 + Silent SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:74318195T>A ENST00000395792.2 + 12 1606 c.1506T>A c.(1504-1506)acT>acA p.T502T AFP_ENST00000226359.2_Silent_p.T502T NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 502 Albumin 3. 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) AGTGCTGCACTTCTTCATATG 0.443000 Alpha-Fetoprotein, Hereditary Persistence of 27 76 0 0 0.001061 0 0 WDR26 80232 broad.mit.edu 37 1 224585902 224585902 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:224585902G>C ENST00000414423.2 - 12 1864 c.1671C>G c.(1669-1671)gaC>gaG p.D557E WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.D410E|WDR26_ENST00000479727.1_5'UTR NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 557 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) CTAAAACTCTGTCTTGCAAGT 0.358000 10 18 0 0 0.000443 0 0 THY1 7070 broad.mit.edu 37 11 119290994 119290994 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:119290994G>T ENST00000284240.5 - 3 1179 c.140C>A c.(139-141)cCc>cAc p.P47H USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.P30H|THY1_ENST00000528522.1_Missense_Mutation_p.P47H NM_006288.3 NP_006279.2 P04216 THY1_HUMAN Thy-1 cell surface antigen 47 Ig-like V-type. angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity p.P47H(1) breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) GTACTGGATGGGTGAACTGCT 0.587000 38 96 1.49673e-21 3.59754e-21 0.001287 1 0 DGKI 9162 broad.mit.edu 37 7 137237200 137237200 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:137237200G>T ENST00000453654.1 - 20 1701 c.1162C>A c.(1162-1164)Cca>Aca p.P388T DGKI_ENST00000446122.1_Missense_Mutation_p.P688T|DGKI_ENST00000288490.5_Missense_Mutation_p.P688T|DGKI_ENST00000424189.2_Missense_Mutation_p.P688T O75912 DGKI_HUMAN diacylglycerol kinase, iota 688 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATCATAGCTGGGGCCAACCTA 0.517000 40 98 6.04917e-29 1.5138e-28 0.001485 1 0 ARRDC5 645432 broad.mit.edu 37 19 4891178 4891178 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:4891178C>A ENST00000381781.2 - 3 908 c.909G>T c.(907-909)tgG>tgT p.W303C NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 303 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TGGTCAGGGACCAGGGCAGGT 0.607000 52 132 2.30037e-20 5.45081e-20 0.003610 1 0 DIRAS1 148252 broad.mit.edu 37 19 2717513 2717513 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:2717513C>T ENST00000323469.4 - 2 475 c.292G>A c.(292-294)Ggg>Agg p.G98R DIRAS1_ENST00000585334.1_Missense_Mutation_p.G98R NM_145173.3 NP_660156.1 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 98 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|lung(2)|ovary(2)|prostate(1) 6 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TAGATGGGCCCCAGCTCCTCC 0.627000 17 26 0 0 0.006122 0 0 ZNF354C 30832 broad.mit.edu 37 5 178503532 178503532 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:178503532G>T ENST00000315475.6 + 3 420 c.114G>T c.(112-114)cgG>cgT p.R38R NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 38 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) CCTTGTACCGGGAGGTGATGC 0.527000 24 82 6.36457e-07 1.14051e-06 0.003954 1 0 TRPC5 7224 broad.mit.edu 37 X 111078301 111078301 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:111078301G>T ENST00000262839.2 - 7 2662 c.1744C>A c.(1744-1746)Ctt>Att p.L582I NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 582 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGATTTAAAAGGCCAAATACA 0.398000 110 65 1.93806e-58 5.01249e-58 0.003610 1 0 LPPR5 163404 broad.mit.edu 37 1 99418732 99418732 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:99418732C>A ENST00000370188.3 - 3 875 c.515G>T c.(514-516)aGt>aTt p.S172I LPPR5_ENST00000263177.4_Missense_Mutation_p.S172I NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 172 integral to membrane hydrolase activity CTCTTCCCCACTGATGAATTG 0.478000 32 24 1.88708e-17 4.26987e-17 0.001512 1 0 IKBIP 121457 broad.mit.edu 37 12 99007656 99007656 + Missense_Mutation SNP C C A rs147943089 by1000genomes TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:99007656C>A ENST00000342502.2 - 3 1171 c.760G>T c.(760-762)Gac>Tac p.D254Y IKBIP_ENST00000420861.1_Missense_Mutation_p.D148Y|IKBIP_ENST00000393042.3_3'UTR NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 254 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 GTATGTTTGTCGAAGTCACTC 0.378000 20 68 2.4624e-09 4.69775e-09 0.001216 1 0 KALRN 8997 broad.mit.edu 37 3 124377324 124377324 + Missense_Mutation SNP G G T rs144160219 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:124377324G>T ENST00000360013.3 + 42 6207 c.6080G>T c.(6079-6081)cGc>cTc p.R2027L KALRN_ENST00000393496.1_Missense_Mutation_p.R368L|KALRN_ENST00000291478.4_Missense_Mutation_p.R330L|KALRN_ENST00000459915.1_Missense_Mutation_p.R119L|KALRN_ENST00000428018.2_Missense_Mutation_p.R298L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2026 DH 2. apoptosis|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|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AATAAGCCGCGCTCAGAGTAC 0.507000 24 99 1.17739e-12 2.39901e-12 0.005443 1 0 CSMD3 114788 broad.mit.edu 37 8 113256746 113256746 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:113256746G>T ENST00000297405.5 - 65 10523 c.10279C>A c.(10279-10281)Ctt>Att p.L3427I CSMD3_ENST00000455883.2_Missense_Mutation_p.L3258I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3387I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3357I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3427 Sushi 28. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGAGATGGAAGGTCCATCCCT 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 50 0.000308642 0.000509831 0.003163 1 0 EBF4 57593 broad.mit.edu 37 20 2688610 2688610 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:2688610G>A ENST00000380648.4 + 6 688 c.420G>A c.(418-420)ggG>ggA p.G140G EBF4_ENST00000342725.4_Silent_p.G144G NM_001110514.1 NP_001103984.1 Q9BQW3 COE4_HUMAN early B-cell factor 4 144 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding TCTATGAGGGGCAGGACAAGA 0.612000 5 13 0 0 0.001168 0 0 CUBN 8029 broad.mit.edu 37 10 16946023 16946023 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:16946023G>T ENST00000377833.4 - 51 8069 c.8004C>A c.(8002-8004)caC>caA p.H2668Q NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2668 CUB 19. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGTGACAAAGTGAATCCATA 0.378000 11 25 2.80697e-09 5.32476e-09 0.000978 1 0 OR5J2 282775 broad.mit.edu 37 11 55944846 55944846 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55944846C>A ENST00000312298.1 + 1 753 c.753C>A c.(751-753)ttC>ttA p.F251L NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TGACCATATTCTATGGTACCT 0.453000 34 92 2.68265e-12 5.41113e-12 0.002836 1 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315801 73315801 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:73315801C>G ENST00000258098.6 - 3 1185 c.945G>C c.(943-945)gtG>gtC p.V315V RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 315 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GAGGAGGAGCCACTCGCATCT 0.592000 6 23 0 0 0.001984 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908094 12908094 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:12908094G>C ENST00000317869.6 - 2 274 c.49C>G c.(49-51)Cgt>Ggt p.R17G NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 ATGAACACACGGGAGTTCATG 0.463000 33 111 0 0 0.002836 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133672524 133672524 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:133672524T>A ENST00000310926.4 - 5 980 c.707A>T c.(706-708)tAt>tTt p.Y236F SLCO2A1_ENST00000493729.1_Missense_Mutation_p.Y160F NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 236 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GACCCTGCCATAGTCCACAAA 0.522000 64 58 0 0 0.003610 0 0 LRFN5 145581 broad.mit.edu 37 14 42355978 42355978 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:42355978C>A ENST00000554171.1 + 5 2582 c.150C>A c.(148-150)gaC>gaA p.D50E LRFN5_ENST00000298119.4_Missense_Mutation_p.D50E|LRFN5_ENST00000554120.1_Missense_Mutation_p.D50E Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 50 LRRNT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CAAACATTGACAGAAGAACTG 0.413000 HNSCC(30;0.082) 15 23 1.49906e-05 2.56927e-05 0.002450 1 0 ROCK1 6093 broad.mit.edu 37 18 18572799 18572799 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:18572799G>A ENST00000399799.1 - 17 2925 c.1985C>T c.(1984-1986)tCa>tTa p.S662L NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 662 Glu-rich.|Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TACCTTTTCTGAGTGATTAAG 0.303000 20 20 0 0 0.001216 0 0 OR4K2 390431 broad.mit.edu 37 14 20345255 20345255 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20345255A>T ENST00000298642.2 + 1 865 c.829A>T c.(829-831)Atc>Ttc p.I277F NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTTTTATACCATCTTTACTCC 0.358000 23 119 0 0 0.002780 0 0 NME8 51314 broad.mit.edu 37 7 37903047 37903047 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:37903047C>A ENST00000199447.4 + 8 809 c.437C>A c.(436-438)tCa>tAa p.S146* NME8_ENST00000440017.1_Nonsense_Mutation_p.S146*|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 146 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity AGTGAAGAATCACCATGTGAA 0.348000 20 59 2.94398e-08 5.46584e-08 0.000958 1 0 OR1L6 392390 broad.mit.edu 37 9 125512443 125512443 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:125512443T>C ENST00000373684.1 + 1 425 c.425T>C c.(424-426)aTg>aCg p.M142T OR1L6_ENST00000304720.2_Missense_Mutation_p.M106T Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 TACTTCTTTATGGCATTTGGG 0.488000 34 148 0 0 0.003755 0 0 SBNO1 55206 broad.mit.edu 37 12 123780568 123780568 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:123780568G>A ENST00000420886.2 - 31 4068 c.4069C>T c.(4069-4071)Cct>Tct p.P1357S SBNO1_ENST00000602398.1_Missense_Mutation_p.P1357S|SBNO1_ENST00000267176.4_Missense_Mutation_p.P1356S|SBNO1_ENST00000602750.1_Missense_Mutation_p.P1356S NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1357 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTTACAAGAGGAGACACACAA 0.428000 46 104 0 0 0.002222 0 0 ZNF99 7652 broad.mit.edu 37 19 22940748 22940748 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:22940748C>T ENST00000397104.3 - 5 1689 c.1690G>A c.(1690-1692)Ggt>Agt p.G564S ZNF99_ENST00000596209.1_Missense_Mutation_p.G655S zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAAGCTTTACCACATTCTTCA 0.378000 11 49 0 0 0.001855 0 0 C4orf6 10141 broad.mit.edu 37 4 5527953 5527953 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:5527953C>T ENST00000195455.2 + 2 352 c.177C>T c.(175-177)gaC>gaT p.D59D C4orf6_ENST00000515342.1_3'UTR NM_005750.2 NP_005741.1 Q99440 CD006_HUMAN chromosome 4 open reading frame 6 59 nervous system development large_intestine(1)|prostate(1) 2 GAACTGCAGACACTGCAGATA 0.448000 18 51 0 0 0.001216 0 0 EGFLAM 133584 broad.mit.edu 37 5 38438424 38438424 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:38438424C>T ENST00000322350.5 + 17 2677 c.2331C>T c.(2329-2331)tcC>tcT p.S777S EGFLAM_ENST00000397202.2_Silent_p.S143S|EGFLAM_ENST00000354891.3_Silent_p.S777S|EGFLAM_ENST00000336740.6_Silent_p.S543S NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 777 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACTTCACCTCCGGAGTGAATG 0.512000 15 43 0 0 0.004990 0 0 OR2T34 127068 broad.mit.edu 37 1 248737333 248737333 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248737333G>A ENST00000328782.2 - 1 747 c.726C>T c.(724-726)gcC>gcT p.A242A NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGTGGCCAAGGCCTTCCTGC 0.567000 112 127 0 0 0.003610 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637522 18637522 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:18637522G>T ENST00000336349.5 - 3 534 c.299C>A c.(298-300)cCt>cAt p.P100H SPTY2D1_ENST00000543776.1_5'UTR NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 100 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TTCCTCAATAGGAATCCCATT 0.433000 54 87 1.0331e-37 2.6413e-37 0.003610 1 0 JARID2 3720 broad.mit.edu 37 6 15452388 15452388 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:15452388A>C ENST00000341776.2 + 4 719 c.475A>C c.(475-477)Acc>Ccc p.T159P JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.T121P NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 159 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGATTTTCTTACCTTTCTCTG 0.468000 26 85 0 0 0.001786 0 0 FLRT3 23767 broad.mit.edu 37 20 14306911 14306911 + Silent SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:14306911A>C ENST00000378053.3 - 2 1498 c.1242T>G c.(1240-1242)acT>acG p.T414T FLRT3_ENST00000341420.4_Silent_p.T414T|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 414 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CAGACTTCACAGTAATTGTAA 0.468000 46 117 0 0 0.003610 0 0 RPL23AP82 284942 broad.mit.edu 37 22 51237503 51237503 + RNA SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:51237503C>G ENST00000480246.1 + 0 753 NR_026982.1 GTTCGACTTGCTCCTGATTAT 0.418000 29 20 0 0 0.004289 0 0 OR5R1 219479 broad.mit.edu 37 11 56185379 56185379 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56185379A>T ENST00000312253.1 - 1 329 c.330T>A c.(328-330)acT>acA p.T110T NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GGAAACACTCAGTGATCATGA 0.453000 15 37 0 0 0.004007 0 0 NCR2 9436 broad.mit.edu 37 6 41304148 41304148 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:41304148T>G ENST00000373083.4 + 2 598 c.376T>G c.(376-378)Tat>Gat p.Y126D NCR2_ENST00000373086.3_Missense_Mutation_p.Y126D|NCR2_ENST00000373089.5_Missense_Mutation_p.Y126D NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 126 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) CGTCAGATTCTATCTGGTGGT 0.532000 59 31 0 0 0.003610 0 0 NAALADL2 254827 broad.mit.edu 37 3 175184791 175184791 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:175184791A>G ENST00000454872.1 + 8 1480 c.1352A>G c.(1351-1353)cAt>cGt p.H451R NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 451 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GTTGGCAGCCATCATCACACT 0.363000 66 310 0 0 0.003610 0 0 CADM4 199731 broad.mit.edu 37 19 44131332 44131332 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:44131332G>T ENST00000222374.2 - 3 398 c.350C>A c.(349-351)aCg>aAg p.T117K NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 117 Ig-like V-type. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) TACCGTGAGCGTGGCAATCTG 0.587000 26 71 2.46105e-21 5.89419e-21 0.002096 1 0 TXNRD3NB 645840 broad.mit.edu 37 3 126291216 126291216 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:126291216C>A ENST00000383572.2 - 3 649 c.171G>T c.(169-171)ggG>ggT p.G57G TXNRD3NB_ENST00000404489.2_Silent_p.G57G NM_001039783.1 NP_001034872.1 Q6F5E7 TR3N_HUMAN thioredoxin reductase 3 neighbor 57 endometrium(1)|large_intestine(2)|skin(2) 5 GACTGGGAAACCCCTGTCCAA 0.547000 22 90 0.00278032 0.0045183 0.002780 1 0 POTEG 404785 broad.mit.edu 37 14 19553561 19553561 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:19553561C>G ENST00000409832.3 + 1 197 c.145C>G c.(145-147)Cac>Gac p.H49D NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 49 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TTCTGGAGACCACGACGATTC 0.607000 42 900 0 0 0.003214 0 0 THBD 7056 broad.mit.edu 37 20 23029284 23029284 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:23029284C>A ENST00000377103.2 - 1 1094 c.858G>T c.(856-858)caG>caT p.Q286H NM_000361.2 NP_000352.1 P07204 TRBM_HUMAN thrombomodulin 286 EGF-like 2. blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CGTTGCAGGACTGCGTCGCGG 0.716000 10 15 0.000442599 0.000729907 0.000443 1 0 FAP 2191 broad.mit.edu 37 2 163027550 163027550 + Missense_Mutation SNP G G T rs138652824 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:163027550G>T ENST00000188790.4 - 26 2429 c.2222C>A c.(2221-2223)aCg>aAg p.T741K AC007750.5_ENST00000418968.2_RNA|FAP_ENST00000443424.1_Missense_Mutation_p.T716K NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 741 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.T741K(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TAAGTGGTTCGTGGACAGGCC 0.433000 28 38 7.38237e-10 1.43016e-09 0.001061 1 0 ADAM19 8728 broad.mit.edu 37 5 156929850 156929850 + Nonsense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:156929850A>T ENST00000257527.4 - 12 1347 c.1269T>A c.(1267-1269)taT>taA p.Y423* ADAM19_ENST00000394020.1_Nonsense_Mutation_p.Y425*|ADAM19_ENST00000517905.1_Nonsense_Mutation_p.Y423*|ADAM19_ENST00000430702.2_Nonsense_Mutation_p.Y156* NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 423 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATCTTCCAGATACCCGTTCC 0.527000 44 107 0 0 0.003610 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95108185 95108185 + RNA SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95108185G>A ENST00000469935.1 + 0 790 NR_015340.1 CCTGGGAGAAGGACCTCGGCA 0.572000 49 103 0 0 0.003610 0 0 ACSM5 54988 broad.mit.edu 37 16 20442556 20442556 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:20442556G>A ENST00000331849.4 + 10 1368 c.1221G>A c.(1219-1221)gaG>gaA p.E407E NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 407 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TGGATGATGAGGGCAACGTCC 0.557000 37 129 0 0 0.001706 0 0 BPIFB2 80341 broad.mit.edu 37 20 31601615 31601615 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:31601615G>T ENST00000170150.3 + 5 503 c.e5-1 NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 extracellular region lipid binding CATCCCTACAGCGCCCCAGAG 0.637000 18 58 3.32936e-07 6.00901e-07 0.006122 1 0 USP13 8975 broad.mit.edu 37 3 179418886 179418886 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:179418886C>A ENST00000263966.3 + 4 917 c.446C>A c.(445-447)gCa>gAa p.A149E USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.A84E NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 149 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TATGAAATAGCACTACCAAAT 0.443000 41 56 4.14481e-20 9.7522e-20 0.001287 1 0 OR2A14 135941 broad.mit.edu 37 7 143826284 143826284 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:143826284T>C ENST00000408899.2 + 1 134 c.79T>C c.(79-81)Tgt>Cgt p.C27R NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GATTCTCCTCTGTGGACTTTT 0.502000 28 80 0 0 0.005443 0 0 SH2D3C 10044 broad.mit.edu 37 9 130506941 130506941 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:130506941G>T ENST00000314830.8 - 7 1815 c.1702C>A c.(1702-1704)Cgg>Agg p.R568R SH2D3C_ENST00000420366.1_Silent_p.R410R|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Silent_p.R500R|SH2D3C_ENST00000373274.3_Silent_p.R408R|SH2D3C_ENST00000429553.1_Silent_p.R214R|SH2D3C_ENST00000373277.4_Silent_p.R411R NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 568 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCCAGTGGCCGGTTATCCCTG 0.612000 48 135 5.34276e-22 1.29036e-21 0.003610 1 0 GPR98 84059 broad.mit.edu 37 5 89954097 89954097 + Splice_Site SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:89954097T>A ENST00000405460.2 + 21 4848 c.e21+2 NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATACCAGAGGTAAGTAGTGAG 0.373000 18 40 0 0 0.006122 0 0 OR4C6 219432 broad.mit.edu 37 11 55433552 55433552 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55433552G>T ENST00000314259.3 + 1 939 c.910G>T c.(910-912)Gag>Tag p.E304* NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GATGAAATGGGAGGCTTTGGC 0.408000 7 36 1.06961e-07 1.96047e-07 0.003080 1 0 CDH10 1008 broad.mit.edu 37 5 24537561 24537561 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:24537561C>A ENST00000264463.4 - 3 961 c.454G>T c.(454-456)Gat>Tat p.D152Y NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 152 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TCATTGATATCATGAATTTTG 0.413000 HNSCC(23;0.051) 45 100 2.24893e-16 5.0207e-16 0.002222 1 0 PARP12 64761 broad.mit.edu 37 7 139756947 139756947 + Nonsense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:139756947G>A ENST00000263549.3 - 3 1342 c.469C>T c.(469-471)Caa>Taa p.Q157* NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 157 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) TTGTAATGTTGGCAAATCTGT 0.498000 30 76 0 0 0.001061 0 0 OR8B3 390271 broad.mit.edu 37 11 124266529 124266529 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:124266529G>A ENST00000354597.3 - 1 735 c.719C>T c.(718-720)aCt>aTt p.T240I NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGAGCTACAAGTACTGAAGGC 0.383000 24 92 0 0 0.004289 0 0 HECTD4 283450 broad.mit.edu 37 12 112670875 112670875 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:112670875C>G ENST00000550722.1 - 38 5887 c.5492G>C c.(5491-5493)cGg>cCg p.R1831P HECTD4_ENST00000377560.5_Missense_Mutation_p.R1805P|HECTD4_ENST00000430131.2_Missense_Mutation_p.R1555P NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCGGAAGGGCCGTCCTTCTGA 0.512000 5 7 0 0 0.000602 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32122555 32122555 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:32122555G>T ENST00000422437.1 + 2 374 c.e2+1 PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2_ENST00000375143.2_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2_ENST00000361568.2_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000324816.6_Splice_Site|PPT2_ENST00000445576.2_Splice_Site CATCAATGAGGTCTGGCAGGG 0.647000 32 39 1.88708e-17 4.26987e-17 0.001512 1 0 NRXN1 9378 broad.mit.edu 37 2 51254661 51254661 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:51254661G>T ENST00000404971.1 - 2 2090 c.751C>A c.(751-753)Cgc>Agc p.R251S NRXN1_ENST00000405472.3_Missense_Mutation_p.R251S|NRXN1_ENST00000402717.3_Missense_Mutation_p.R251S|NRXN1_ENST00000401669.2_Missense_Mutation_p.R251S|NRXN1_ENST00000405581.1_Missense_Mutation_p.R251S|NRXN1_ENST00000406316.2_Missense_Mutation_p.R251S|NRXN1_ENST00000406859.3_Missense_Mutation_p.R251S NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 251 EGF-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCCTTGCCGCGGAAGCCGGTT 0.751000 5 30 0.000602214 0.000991505 0.000602 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18889647 18889647 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:18889647G>A ENST00000380548.4 + 25 4883 c.4544G>A c.(4543-4545)tGc>tAc p.C1515Y ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.C216Y NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1515 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CGCTTGAGGTGCCTGCTGAAC 0.642000 8 20 0 0 0.003080 0 0 CREBZF 58487 broad.mit.edu 37 11 85375697 85375697 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:85375697C>A ENST00000527447.1 - 1 449 c.223G>T c.(223-225)Gtg>Ttg p.V75L CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_5'UTR|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 75 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GGCGCGCGCACGGCCACGCCG 0.706000 38 76 2.05212e-20 4.86832e-20 0.005524 1 0 CFAP54 144535 broad.mit.edu 37 12 97158856 97158856 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:97158856T>C ENST00000524981.3 + 27 3494 c.3492_splice c.e27-1 p.V1165_splice Q6ZTY8 CL063_HUMAN 1139 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TAATTGTAGGTCAGTGAAGCT 0.274000 15 57 0 0 0.003163 0 0 SORBS2 8470 broad.mit.edu 37 4 186533086 186533086 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:186533086C>T ENST00000431808.1 - 19 3495 c.2932G>A c.(2932-2934)Ggt>Agt p.G978S SORBS2_ENST00000449407.2_Missense_Mutation_p.G522S|SORBS2_ENST00000448662.2_Missense_Mutation_p.G539S|SORBS2_ENST00000437304.2_Missense_Mutation_p.G702S|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Missense_Mutation_p.G544S|SORBS2_ENST00000355634.5_Missense_Mutation_p.G1078S|SORBS2_ENST00000319471.9_Missense_Mutation_p.G609S|SORBS2_ENST00000284776.7_Missense_Mutation_p.G978S|SORBS2_ENST00000418609.1_Missense_Mutation_p.G882S O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 978 SH3 2. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGGATTTTACCTTCATACCAG 0.398000 9 41 0 0 0.004482 0 0 GTF2E1 2960 broad.mit.edu 37 3 120469827 120469827 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:120469827A>T ENST00000283875.5 + 2 521 c.428A>T c.(427-429)cAg>cTg p.Q143L NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 143 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding p.Q143P(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) GAAGCTAATCAGCTCTTTGAT 0.353000 18 64 0 0 0.006122 0 0 DTD1 92675 broad.mit.edu 37 20 18724787 18724787 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:18724787G>T ENST00000377452.3 + 5 701 c.521G>T c.(520-522)aGa>aTa p.R174I NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 174 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 GAAAAGACCAGAGCTAAGGGA 0.448000 12 17 3.07112e-06 5.37379e-06 0.000978 1 0 VEPH1 79674 broad.mit.edu 37 3 157146130 157146130 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:157146130G>C ENST00000362010.2 - 5 984 c.677C>G c.(676-678)gCa>gGa p.A226G VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Missense_Mutation_p.A226G|VEPH1_ENST00000392832.2_Missense_Mutation_p.A226G|VEPH1_ENST00000543418.1_Missense_Mutation_p.A226G NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 226 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTTTTTCTTTGCTGCTACATG 0.438000 14 89 0 0 0.001855 0 0 OR2M3 127062 broad.mit.edu 37 1 248366998 248366998 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248366998C>A ENST00000456743.1 + 1 667 c.629C>A c.(628-630)cCt>cAt p.P210H NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTGTTTTCCCTGTTGCAATC 0.418000 168 236 5.60145e-70 1.45623e-69 0.003610 1 0 ECT2L 345930 broad.mit.edu 37 6 139170518 139170518 + Missense_Mutation SNP A A C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:139170518A>C ENST00000423192.1 + 8 1177 c.1016A>C c.(1015-1017)cAg>cCg p.Q339P ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q339P|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q270P Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 339 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 CAGAAGGCACAGAGCATCGGA 0.468000 """N, Splice, Mis""" ETP ALL 21 62 0 0 0.001216 0 0 WDR78 79819 broad.mit.edu 37 1 67359072 67359072 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:67359072C>A ENST00000371026.3 - 3 425 c.370G>T c.(370-372)Gtt>Ttt p.V124F WDR78_ENST00000371022.3_Missense_Mutation_p.V124F|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.V124F NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 124 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CGGGGAGTAACATCAGTTCCA 0.343000 26 19 2.48779e-11 4.96816e-11 0.005443 1 0 ANK2 287 broad.mit.edu 37 4 114274328 114274328 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:114274328C>A ENST00000357077.4 + 38 4607 c.4554C>A c.(4552-4554)acC>acA p.T1518T ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1485 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCAAAATGACCGCCATCTTGA 0.458000 26 70 9.39395e-14 1.96802e-13 0.001061 1 0 SSB 6741 broad.mit.edu 37 2 170667535 170667535 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:170667535A>G ENST00000409333.1 + 10 1225 c.978A>G c.(976-978)ctA>ctG p.L326L SSB_ENST00000260956.4_Silent_p.L326L|METTL5_ENST00000409837.1_Intron P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 326 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 AAGAATCCCTAAACAAATGGA 0.333000 14 27 0 0 0.002450 0 0 SPAG8 26206 broad.mit.edu 37 9 35809452 35809452 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35809452C>A ENST00000340291.2 - 7 1445 c.1321G>T c.(1321-1323)Gaa>Taa p.E441* NPR2_ENST00000342694.2_3'UTR NM_172312.1 NP_758516.1 Q99932 SPAG8_HUMAN sperm associated antigen 8 0 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) AACCCCCATTCTTTCCAAGTC 0.493000 99 244 3.37413e-40 8.64862e-40 0.003610 1 0 FREM2 341640 broad.mit.edu 37 13 39264040 39264040 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:39264040C>A ENST00000280481.7 + 1 2775 c.2559C>A c.(2557-2559)caC>caA p.H853Q NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 853 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAGAGTTGCACGTGAATGATG 0.502000 13 28 5.50884e-06 9.56422e-06 0.001368 1 0 PREX2 80243 broad.mit.edu 37 8 69002942 69002942 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:69002942C>A ENST00000288368.4 + 20 2519 c.2242C>A c.(2242-2244)Cca>Aca p.P748T RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 748 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GTACAGGCGGCCAACGAAGGT 0.483000 11 45 3.86212e-05 6.52464e-05 0.000673 1 0 FBN3 84467 broad.mit.edu 37 19 8206823 8206823 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:8206823C>A ENST00000600128.1 - 7 1154 c.e7+1 FBN3_ENST00000270509.2_Splice_Site|FBN3_ENST00000601739.1_Splice_Site Q75N90 FBN3_HUMAN fibrillin 3 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCACTATTCACCTTGGCAGGC 0.637000 12 48 1.08611e-07 1.98346e-07 0.000978 1 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518274 84518274 + RNA SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:84518274C>A ENST00000331369.5 + 0 468 CTGAAGATCCCTAAGAGCACT 0.458000 28 42 4.87955e-14 1.02762e-13 0.005443 1 0 SI 6476 broad.mit.edu 37 3 164741509 164741509 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:164741509T>A ENST00000264382.3 - 26 3010 c.2948A>T c.(2947-2949)tAt>tTt p.Y983F NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 983 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTGACTGAATAAGAGTTATC 0.403000 HNSCC(35;0.089) 10 47 0 0 0.000443 0 0 CASC1 55259 broad.mit.edu 37 12 25343548 25343548 + Splice_Site SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:25343548C>G ENST00000354189.5 - 2 230 c.195_splice c.e2+1 p.K65_splice CASC1_ENST00000557684.1_Intron|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Splice_Site_p.K7_splice|CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000320267.9_Intron|CASC1_ENST00000545133.1_Intron NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 0 Glu-rich. breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TTCTACATACCTTTTTTGCTT 0.234000 18 39 0 0 0.002299 0 0 DICER1 23405 broad.mit.edu 37 14 95582111 95582111 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:95582111G>T ENST00000526495.1 - 13 2091 c.1800C>A c.(1798-1800)gaC>gaA p.D600E DICER1_ENST00000541352.1_Missense_Mutation_p.D600E|DICER1_ENST00000527414.1_Missense_Mutation_p.D600E|DICER1_ENST00000393063.1_Missense_Mutation_p.D600E|DICER1_ENST00000343455.3_Missense_Mutation_p.D600E Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 600 Helicase C-terminal. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CAGGATCAATGTCAGTCTCAC 0.433000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 24 44 2.39556e-15 5.20335e-15 0.002780 1 0 SGPP1 81537 broad.mit.edu 37 14 64152979 64152979 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:64152979T>A ENST00000247225.6 - 3 1264 c.1170A>T c.(1168-1170)ttA>ttT p.L390F NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 390 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) TTTTGCAGGCTAAAGGAATGG 0.373000 23 87 0 0 0.002780 0 0 GRHL2 79977 broad.mit.edu 37 8 102656369 102656369 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:102656369C>T ENST00000251808.3 + 13 1866 c.1528C>T c.(1528-1530)Ctt>Ttt p.L510F GRHL2_ENST00000395927.1_Missense_Mutation_p.L494F|GRHL2_ENST00000517674.1_3'UTR NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 510 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) TGGCAGTGTCCTTGTTAAACG 0.463000 8 22 0 0 0.004482 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054160 4054160 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:4054160G>T ENST00000322357.4 - 2 1349 c.1071C>A c.(1069-1071)agC>agA p.S357R ZBTB7A_ENST00000601588.1_Missense_Mutation_p.S357R NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 357 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CGTGGGCGCCGCTGAAGTACT 0.667000 20 44 7.41877e-09 1.39415e-08 0.001882 1 0 EPHA3 2042 broad.mit.edu 37 3 89391052 89391052 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:89391052G>T ENST00000336596.2 + 5 1343 c.1118G>T c.(1117-1119)tGt>tTt p.C373F EPHA3_ENST00000452448.2_Missense_Mutation_p.C373F|EPHA3_ENST00000494014.1_Missense_Mutation_p.C373F NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 373 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATAAAACAGTGTGAGCCATGC 0.493000 TSP Lung(6;0.00050) 14 28 1.3612e-06 2.40699e-06 0.003163 1 0 TNKS2 80351 broad.mit.edu 37 10 93601155 93601155 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:93601155C>A ENST00000371627.4 + 15 2168 c.1789C>A c.(1789-1791)Cat>Aat p.H597N NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 597 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) TACACCTTTACATGAAGCAGC 0.323000 17 57 2.94398e-08 5.46584e-08 0.000958 1 0 CHEK2P2 646096 broad.mit.edu 37 15 20490575 20490575 + RNA SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:20490575C>T ENST00000555186.1 + 0 555 NR_038836.1 AGCCTTAAGACACTGTGGCTT 0.473000 47 341 0 0 0.003610 0 0 SLIT2 9353 broad.mit.edu 37 4 20255599 20255599 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:20255599C>A ENST00000504154.1 + 1 413 c.161C>A c.(160-162)cCc>cAc p.P54H SLIT2_ENST00000503823.1_Missense_Mutation_p.P54H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P54H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P54H NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 54 LRRNT. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGGAATATCCCCCGCAACACC 0.667000 20 65 9.95505e-16 2.18597e-15 0.002299 1 0 ALKBH2 121642 broad.mit.edu 37 12 109530453 109530453 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:109530453C>A ENST00000429722.2 - 2 502 c.139G>T c.(139-141)Ggg>Tgg p.G47W ALKBH2_ENST00000343075.3_Missense_Mutation_p.G47W|ALKBH2_ENST00000440112.2_Missense_Mutation_p.G47W NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 47 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) CCTCCATTCCCTGGGGCCTCT 0.582000 Direct reversal of damage 50 115 1.00776e-21 2.42805e-21 0.003610 1 0 SLC35F4 341880 broad.mit.edu 37 14 58056150 58056150 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:58056150A>G ENST00000556826.1 - 3 607 c.371T>C c.(370-372)aTg>aCg p.M124T SLC35F4_ENST00000339762.6_Missense_Mutation_p.M160T|SLC35F4_ENST00000554729.1_Start_Codon_SNP_p.M1T NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTCAGAACCATGGACGTGCA 0.443000 11 29 0 0 0.000673 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315415 73315415 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:73315415G>A ENST00000258098.6 - 3 1571 c.1331C>T c.(1330-1332)tCt>tTt p.S444F RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 444 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CACAGCCTCAGAGGAGGCCAC 0.657000 39 88 0 0 0.002222 0 0 KIF21B 23046 broad.mit.edu 37 1 200948800 200948800 + Silent SNP G G T rs144601295 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:200948800G>T ENST00000332129.2 - 29 4300 c.3984C>A c.(3982-3984)atC>atA p.I1328I KIF21B_ENST00000360529.5_Silent_p.I1328I|KIF21B_ENST00000461742.2_Silent_p.I1341I|KIF21B_ENST00000422435.2_Silent_p.I1341I NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1341 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TTAGAGCTGCGATCTCCTGTC 0.587000 OREG0014066 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 166 4.49761e-31 1.13259e-30 0.003610 1 0 CRNN 49860 broad.mit.edu 37 1 152382869 152382869 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:152382869G>T ENST00000271835.3 - 3 751 c.689C>A c.(688-690)tCt>tAt p.S230Y RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 230 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTTCCAGATCCAGTCAC 0.577000 98 211 4.7146e-34 1.19926e-33 0.003610 1 0 PCDH15 65217 broad.mit.edu 37 10 56106245 56106245 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:56106245C>A ENST00000373965.2 - 6 869 c.e6-1 PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395442.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTGGAGTGAGCTGAAAGGAAA 0.338000 HNSCC(58;0.16) 34 89 2.26627e-22 5.49325e-22 0.001706 1 0 IRX6 79190 broad.mit.edu 37 16 55360356 55360356 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:55360356T>A ENST00000290552.7 + 2 1486 c.154T>A c.(154-156)Tac>Aac p.Y52N RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 52 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CTGCGCACCCTACGATAGTCG 0.652000 15 15 0 0 0.002450 0 0 CSPG5 10675 broad.mit.edu 37 3 47618790 47618790 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:47618790C>T ENST00000383738.2 - 2 2824 c.726G>A c.(724-726)gaG>gaA p.E242E CSPG5_ENST00000264723.4_Silent_p.E242E|CSPG5_ENST00000456150.1_Silent_p.E104E NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 242 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGGTCTCTCCCTCAGTATCAG 0.527000 9 12 0 0 0.004482 0 0 C7orf57 136288 broad.mit.edu 37 7 48080958 48080958 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:48080958G>T ENST00000348904.3 + 3 295 c.83G>T c.(82-84)cGc>cTc p.R28L C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.R73L|C7orf57_ENST00000539619.1_Missense_Mutation_p.R28L|C7orf57_ENST00000420324.1_Missense_Mutation_p.R73L NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 28 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 CCAGTGAAGCGCTCTGAGAAG 0.582000 10 43 2.80697e-09 5.32476e-09 0.000978 1 0 SEC1P 653677 broad.mit.edu 37 19 49183480 49183480 + RNA SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:49183480G>A ENST00000430145.2 + 0 567 NR_004401.2 TCCAAGGGCCGCCTGGGGAAC 0.682000 3 5 0 0 0.004672 0 0 GLI2 2736 broad.mit.edu 37 2 121747847 121747847 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:121747847A>G ENST00000452319.1 + 14 4417 c.4357A>G c.(4357-4359)Atg>Gtg p.M1453V GLI2_ENST00000361492.4_Missense_Mutation_p.M1453V|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1453 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCAGATCCACATGTACGAACA 0.657000 24 64 0 0 0.005443 0 0 RIMS2 9699 broad.mit.edu 37 8 104898151 104898151 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:104898151C>G ENST00000507740.1 + 2 984 c.748C>G c.(748-750)Ccc>Gcc p.P250A RIMS2_ENST00000436393.2_Missense_Mutation_p.P220A|RIMS2_ENST00000262231.10_Missense_Mutation_p.P250A|RIMS2_ENST00000406091.3_Missense_Mutation_p.P442A NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 473 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAGTCCACTACCCATAGATAG 0.463000 HNSCC(12;0.0054) 10 44 0 0 0.000673 0 0 EPHB2 2048 broad.mit.edu 37 1 23234658 23234658 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:23234658C>A ENST00000400191.3 + 12 2367 c.2349C>A c.(2347-2349)gcC>gcA p.A783A EPHB2_ENST00000374627.1_Silent_p.A778A|EPHB2_ENST00000374630.3_Silent_p.A783A|EPHB2_ENST00000374632.3_Silent_p.A784A NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 783 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACACCAGTGCCCTGGTAAGAT 0.552000 24 22 9.95505e-16 2.18597e-15 0.002299 1 0 PLSCR4 57088 broad.mit.edu 37 3 145938675 145938675 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:145938675T>G ENST00000354952.2 - 3 285 c.45A>C c.(43-45)gaA>gaC p.E15D PLSCR4_ENST00000383083.2_Missense_Mutation_p.E15D|PLSCR4_ENST00000433593.2_5'UTR|PLSCR4_ENST00000446574.2_Missense_Mutation_p.E15D|PLSCR4_ENST00000493382.1_Missense_Mutation_p.E15D NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 15 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 GATTTTCCATTTCACCTGCAG 0.393000 11 33 0 0 0.000978 0 0 RNF17 56163 broad.mit.edu 37 13 25406105 25406105 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:25406105G>T ENST00000255324.5 + 18 2523 c.2471G>T c.(2470-2472)tGt>tTt p.C824F RNF17_ENST00000381921.1_Missense_Mutation_p.C824F NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 824 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTTATGACATGTTCAGTTATC 0.259000 6 12 0.00116845 0.00191591 0.001168 1 0 PASD1 139135 broad.mit.edu 37 X 150840977 150840977 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:150840977T>A ENST00000370357.4 + 14 2005 c.1760T>A c.(1759-1761)cTg>cAg p.L587Q NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 587 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CAGATATGCCTGCAAAACCCA 0.522000 30 16 0 0 0.002096 0 0 DIDO1 11083 broad.mit.edu 37 20 61525097 61525097 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:61525097C>A ENST00000266070.4 - 12 3347 c.3022G>T c.(3022-3024)Gtg>Ttg p.V1008L DIDO1_ENST00000395340.1_Missense_Mutation_p.V1008L|DIDO1_ENST00000395343.1_Missense_Mutation_p.V1008L|DIDO1_ENST00000395335.2_Missense_Mutation_p.V1008L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1008 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) GACTTGGGCACCATCACAGAA 0.557000 39 53 2.05212e-20 4.86832e-20 0.005524 1 0 PDILT 204474 broad.mit.edu 37 16 20370759 20370759 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:20370759G>C ENST00000302451.4 - 12 1885 c.1637C>G c.(1636-1638)tCc>tGc p.S546C NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 546 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTCCAGCTTGGATACGTACTT 0.512000 50 245 0 0 0.003610 0 0 LRSAM1 90678 broad.mit.edu 37 9 130241717 130241717 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:130241717G>T ENST00000323301.4 + 12 1440 c.836G>T c.(835-837)cGg>cTg p.R279L LRSAM1_ENST00000373322.1_Missense_Mutation_p.R279L|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R279L|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R279L NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 279 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CTGGGGCAGCGGGAGCACACC 0.602000 29 32 7.01153e-11 1.38369e-10 0.001271 1 0 PRH1 5554 broad.mit.edu 37 12 11034876 11034876 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:11034876C>A ENST00000428168.2 - 4 496 c.459G>T c.(457-459)ggG>ggT p.G153G PRR4_ENST00000536668.1_5'UTR NM_006250.3 NP_006241.2 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 153 extracellular space protein binding endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(232;0.245) GTGGGCGGCCCCCTTGGGGAG 0.587000 32 107 4.75821e-42 1.22119e-41 0.003610 1 0 MYO1F 4542 broad.mit.edu 37 19 8587264 8587264 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:8587264C>T ENST00000338257.8 - 27 3484 c.3217G>A c.(3217-3219)Gaa>Aaa p.E1073K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 1073 SH3. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CACACACCTTCCATGAGGATC 0.592000 12 27 0 0 0.001368 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182402 140182402 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140182402G>T ENST00000522353.2 + 1 1620 c.1620G>T c.(1618-1620)gcG>gcT p.A540A PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.A540A|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCGATGCGGGCGTGCCGC 0.672000 50 131 4.44712e-29 1.11428e-28 0.003610 1 0 SCN11A 11280 broad.mit.edu 37 3 38946691 38946691 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:38946691G>T ENST00000450244.1 - 11 1793 c.1595C>A c.(1594-1596)aCc>aAc p.T532N SCN11A_ENST00000456224.3_Missense_Mutation_p.T532N|SCN11A_ENST00000444237.2_Missense_Mutation_p.T532N|SCN11A_ENST00000302328.3_Missense_Mutation_p.T532N Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 532 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACCCTTCATGGTGATGGTGAG 0.488000 57 58 6.176e-18 1.40535e-17 0.003610 1 0 PTK2B 2185 broad.mit.edu 37 8 27295006 27295006 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:27295006A>G ENST00000397501.1 + 22 2328 c.1520A>G c.(1519-1521)tAt>tGt p.Y507C PTK2B_ENST00000338238.4_Missense_Mutation_p.Y507C|PTK2B_ENST00000397497.4_Missense_Mutation_p.Y253C|PTK2B_ENST00000346049.5_Missense_Mutation_p.Y507C|PTK2B_ENST00000517339.1_Missense_Mutation_p.Y507C|PTK2B_ENST00000420218.2_Missense_Mutation_p.Y507C|PTK2B_ENST00000544172.1_Missense_Mutation_p.Y507C NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 507 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TTGTATCCCTATGGGGAGGTG 0.552000 12 29 0 0 0.000978 0 0 TMEM68 137695 broad.mit.edu 37 8 56675124 56675124 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:56675124T>C ENST00000521229.1 - 3 607 c.395A>G c.(394-396)cAt>cGt p.H132R TMEM68_ENST00000522576.1_Missense_Mutation_p.H132R|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000334667.2_Intron|TMEM68_ENST00000434581.2_Intron|TMEM68_ENST00000519784.1_Intron Q96MH6 TMM68_HUMAN transmembrane protein 68 0 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) atcaaTAAAATGGAATGGTAA 0.383000 15 30 0 0 0.002450 0 0 OR4A16 81327 broad.mit.edu 37 11 55110887 55110887 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55110887T>C ENST00000314721.2 + 1 261 c.211T>C c.(211-213)Tat>Cat p.Y71H NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GGATGCCATATATTCCACTGC 0.453000 44 111 0 0 0.002522 0 0 SLIT2 9353 broad.mit.edu 37 4 20568976 20568976 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:20568976C>T ENST00000504154.1 + 27 3069 c.2817C>T c.(2815-2817)gaC>gaT p.D939D SLIT2_ENST00000503823.1_Silent_p.D931D|SLIT2_ENST00000503837.1_Silent_p.D935D|SLIT2_ENST00000273739.5_Silent_p.D943D NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 939 EGF-like 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATCCAGTTGACTTTTACCGAT 0.383000 32 79 0 0 0.002096 0 0 SFI1 9814 broad.mit.edu 37 22 31946321 31946321 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:31946321A>T ENST00000432498.1 + 6 924 c.531A>T c.(529-531)agA>agT p.R177S SFI1_ENST00000414585.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000443326.1_Missense_Mutation_p.R95S|SFI1_ENST00000400288.2_Missense_Mutation_p.R177S|SFI1_ENST00000540643.1_Missense_Mutation_p.R153S|SFI1_ENST00000400289.1_Missense_Mutation_p.R95S NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 177 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 AGTACATTAGAGCCGAGGTTC 0.448000 18 32 0 0 0.006122 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054266 4054266 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:4054266T>A ENST00000322357.4 - 2 1243 c.965A>T c.(964-966)cAg>cTg p.Q322L ZBTB7A_ENST00000601588.1_Missense_Mutation_p.Q322L NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 322 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TGACATCATCTGCTGCAGCAG 0.731000 4 15 0 0 0.000248 0 0 KIF25 3834 broad.mit.edu 37 6 168434642 168434642 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:168434642G>A ENST00000443060.2 + 5 639 c.248G>A c.(247-249)gGc>gAc p.G83D KIF25_ENST00000354419.2_Missense_Mutation_p.G83D|KIF25_ENST00000351261.3_Missense_Mutation_p.G83D Q9UIL4 KIF25_HUMAN kinesin family member 25 83 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TCGGACGACGGCCCTGTTCTG 0.527000 17 39 0 0 0.004007 0 0 TRAC 28755 broad.mit.edu 37 14 23021046 23021046 + RNA SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:23021046C>G ENST00000478163.3 + 0 923 TGTGTCTGGGCGTGTTGTATG 0.428000 10 50 0 0 0.000978 0 0 PYDC2 152138 broad.mit.edu 37 3 191179206 191179206 + Silent SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:191179206T>G ENST00000518817.1 + 1 255 c.255T>G c.(253-255)tcT>tcG p.S85S NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 85 DAPIN. cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 CGCATCTGTCTGGGAGAGCTG 0.517000 30 180 0 0 0.002836 0 0 IL1RAP 3556 broad.mit.edu 37 3 190326880 190326880 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:190326880G>T ENST00000412504.2 + 4 699 c.447G>T c.(445-447)ctG>ctT p.L149L IL1RAP_ENST00000434491.1_Silent_p.L8L|IL1RAP_ENST00000422940.1_Silent_p.L149L|IL1RAP_ENST00000447382.1_Silent_p.L149L|IL1RAP_ENST00000439062.1_Silent_p.L149L|IL1RAP_ENST00000317757.3_Silent_p.L149L|IL1RAP_ENST00000072516.3_Silent_p.L149L|IL1RAP_ENST00000443369.2_Silent_p.L149L|IL1RAP_ENST00000422485.1_Silent_p.L149L Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 149 Ig-like C2-type 2. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TGCATAAACTGTATATAGAAT 0.388000 26 115 1.42536e-11 2.85498e-11 0.004656 1 0 IGKV3-11 28914 broad.mit.edu 37 2 89326772 89326772 + RNA SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:89326772T>C ENST00000483158.1 - 0 287 CCACTGAACCTGGCTGGGATG 0.537000 27 85 0 0 0.001061 0 0 LRRK2 120892 broad.mit.edu 37 12 40692113 40692113 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:40692113G>C ENST00000298910.7 + 24 3223 c.3165G>C c.(3163-3165)ttG>ttC p.L1055F LRRK2_ENST00000343742.2_Missense_Mutation_p.L1055F NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1055 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTTATTTGTTGAAAATGAGTT 0.333000 15 41 0 0 0.003163 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31797760 31797760 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:31797760C>T ENST00000390690.2 - 1 526 c.471G>A c.(469-471)tgG>tgA p.W157* NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 157 intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 ATGAATGGAACCACCTTCTAG 0.388000 19 28 0 0 0.006122 0 0 GPR98 84059 broad.mit.edu 37 5 89930999 89930999 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:89930999C>T ENST00000405460.2 + 10 2004 c.1908C>T c.(1906-1908)atC>atT p.I636I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 636 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGGGGAAATCTGCAATATTT 0.358000 22 71 0 0 0.001523 0 0 TIMM44 10469 broad.mit.edu 37 19 7999066 7999066 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:7999066C>A ENST00000270538.3 - 5 719 c.451G>T c.(451-453)Gaa>Taa p.E151* NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 151 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 TTGGCTGCTTCCTCCACGCCC 0.622000 32 103 9.93527e-08 1.82602e-07 0.002836 1 0 TRERF1 55809 broad.mit.edu 37 6 42236484 42236484 + Missense_Mutation SNP C C A rs147382652 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:42236484C>A ENST00000541110.1 - 5 1413 c.845G>T c.(844-846)cGt>cTt p.R282L TRERF1_ENST00000372917.4_Missense_Mutation_p.R282L|TRERF1_ENST00000354325.2_Missense_Mutation_p.R282L|TRERF1_ENST00000372922.4_Missense_Mutation_p.R282L|TRERF1_ENST00000340840.2_Missense_Mutation_p.R282L Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 282 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CATGGAGATACGCTGTTGCCC 0.597000 91 69 3.77759e-48 9.70758e-48 0.003610 1 0 COL6A1 1291 broad.mit.edu 37 21 47421935 47421935 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:47421935C>T ENST00000361866.3 + 31 2131 c.2017C>T c.(2017-2019)Cac>Tac p.H673Y COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 673 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GATGCAGGAGCACGTGAGCCT 0.697000 14 38 0 0 0.001855 0 0 MESP2 145873 broad.mit.edu 37 15 90320436 90320436 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:90320436C>G ENST00000341735.3 + 1 848 c.848C>G c.(847-849)tCg>tGg p.S283W MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 283 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) TGGACGCAGTCGTCCCCAGAG 0.647000 10 7 0 0 0.000443 0 0 COL3A1 1281 broad.mit.edu 37 2 189854843 189854843 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:189854843C>A ENST00000304636.3 + 9 882 c.712C>A c.(712-714)Cga>Aga p.R238R COL3A1_ENST00000317840.5_Silent_p.R238R NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 238 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.R238*(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TAGACCCGGACGACCTGGAGA 0.383000 13 23 0.00244969 0.00398423 0.002450 1 0 DST 667 broad.mit.edu 37 6 56347649 56347649 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:56347649C>A ENST00000370754.5 - 89 21140 c.21141G>T c.(21139-21141)agG>agT p.R7047S DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R6543S|DST_ENST00000361203.3_Missense_Mutation_p.R6758S|DST_ENST00000244364.6_Missense_Mutation_p.R4455S|DST_ENST00000370788.2_Missense_Mutation_p.R4672S|DST_ENST00000421834.2_Missense_Mutation_p.R4781S|DST_ENST00000370769.4_Missense_Mutation_p.R6869S Q03001 DYST_HUMAN dystonin 6867 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CACTGCTGGTCCTCTTCCCCA 0.443000 21 77 5.45024e-15 1.18e-14 0.003330 1 0 POU1F1 5449 broad.mit.edu 37 3 87313582 87313582 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:87313582C>A ENST00000350375.2 - 3 419 c.295G>T c.(295-297)Gca>Tca p.A99S POU1F1_ENST00000560656.1_Missense_Mutation_p.A99S|POU1F1_ENST00000344265.3_Missense_Mutation_p.A125S NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 99 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) GGGTCCTCTGCCAGAAGAGGC 0.438000 39 36 6.2361e-21 1.48821e-20 0.001706 1 0 ACADL 33 broad.mit.edu 37 2 211085399 211085399 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:211085399G>T ENST00000233710.3 - 2 432 c.205C>A c.(205-207)Caa>Aaa p.Q69K AC006994.2_ENST00000412065.1_RNA NM_001608.3 NP_001599.1 P28330 ACADL_HUMAN acyl-CoA dehydrogenase, long chain 69 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) ACTTCTTCTTGGAAAAACTTC 0.358000 18 23 1.00905e-13 2.10954e-13 0.001216 1 0 MAGEB10 139422 broad.mit.edu 37 X 27839501 27839501 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:27839501A>T ENST00000356790.2 + 3 323 c.78A>T c.(76-78)atA>atT p.I26I NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 26 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 AAGATTTGATAGATGCTCTGG 0.512000 18 20 0 0 0.006122 0 0 ABCC2 1244 broad.mit.edu 37 10 101544522 101544522 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:101544522T>A ENST00000370449.4 + 2 304 c.191T>A c.(190-192)cTc>cAc p.L64H ABCC2_ENST00000370434.1_Missense_Mutation_p.L64H NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 64 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACCACCAAACTCTATCTTGCT 0.473000 28 55 0 0 0.001271 0 0 AMELY 266 broad.mit.edu 37 Y 6736363 6736363 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrY:6736363G>T ENST00000215479.5 - 5 355 c.288C>A c.(286-288)gtC>gtA p.V96V AMELY_ENST00000383036.1_Silent_p.V110V|AMELY_ENST00000383037.4_Silent_p.V110V NM_001143.1 NP_001134.1 Q99218 AMELY_HUMAN amelogenin, Y-linked 110 Gln-rich. biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel NS(1)|lung(5) 6 CTTGCTGGCGGACCCTGGGCT 0.612000 32 25 1.22384e-17 2.77855e-17 0.002836 1 0 ATP6V0D2 245972 broad.mit.edu 37 8 87165148 87165148 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:87165148C>A ENST00000285393.3 + 8 1137 c.995C>A c.(994-996)gCa>gAa p.A332E CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 332 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 GTGTGGATAGCAGAATGTATT 0.333000 15 40 1.49906e-05 2.56927e-05 0.002450 1 0 USH2A 7399 broad.mit.edu 37 1 215847664 215847664 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:215847664G>T ENST00000366943.2 - 63 13975 c.13589C>A c.(13588-13590)tCa>tAa p.S4530* USH2A_ENST00000307340.3_Nonsense_Mutation_p.S4530* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4530 Fibronectin type-III 31. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAGGGTGCTGAGGGGCTGGT 0.512000 HNSCC(13;0.011) 43 81 7.05121e-23 1.72163e-22 0.002522 1 0 TENM1 10178 broad.mit.edu 37 X 123805537 123805537 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:123805537T>A ENST00000422452.2 - 6 1227 c.1164A>T c.(1162-1164)aaA>aaT p.K388N TENM1_ENST00000371130.3_Missense_Mutation_p.K388N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGTACCTTTTTTCTCTGATT 0.373000 37 24 0 0 0.003271 0 0 POTEH 23784 broad.mit.edu 37 22 16279270 16279270 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:16279270T>C ENST00000343518.6 - 4 1004 c.953A>G c.(952-954)cAt>cGt p.H318R NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 318 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTTTTGCTCATGTACACCAAG 0.328000 28 418 0 0 0.002836 0 0 TRAV41 28640 broad.mit.edu 37 14 22789047 22789047 + RNA SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:22789047T>A ENST00000390468.1 + 0 260 ACAATAAACATACAGGAAAAG 0.507000 11 26 0 0 0.000673 0 0 SLC14A2 8170 broad.mit.edu 37 18 43253684 43253684 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:43253684T>A ENST00000255226.6 + 18 3230 c.2414T>A c.(2413-2415)tTc>tAc p.F805Y RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.F805Y|SLC14A2_ENST00000589658.1_Missense_Mutation_p.F282Y NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 805 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCCATCTACTTCGGCCTGTGT 0.587000 41 32 0 0 0.001706 0 0 ZFP36L1 677 broad.mit.edu 37 14 69257126 69257126 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:69257126C>A ENST00000439696.2 - 2 442 c.141G>T c.(139-141)ggG>ggT p.G47G ZFP36L1_ENST00000336440.3_Silent_p.G47G|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 47 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAGGGAAGCCCCCACCAGCAG 0.612000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 22 0.000274275 0.000453435 0.004482 1 0 ATP10B 23120 broad.mit.edu 37 5 160071164 160071164 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:160071164A>G ENST00000327245.5 - 9 1695 c.849T>C c.(847-849)gtT>gtC p.V283V NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 283 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGACAATGCCAACAGCCATCT 0.493000 15 63 0 0 0.003163 0 0 SORL1 6653 broad.mit.edu 37 11 121495940 121495940 + Missense_Mutation SNP G G C rs149393026 byFrequency TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:121495940G>C ENST00000260197.7 + 46 6447 c.6318G>C c.(6316-6318)caG>caC p.Q2106H SORL1_ENST00000532694.1_Missense_Mutation_p.Q952H|SORL1_ENST00000534286.1_Missense_Mutation_p.Q1016H|SORL1_ENST00000527934.1_Missense_Mutation_p.Q721H|SORL1_ENST00000525532.1_Missense_Mutation_p.Q1050H NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2106 Fibronectin type-III 6. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTGGCAACCAGATCTGTGGGG 0.468000 23 70 0 0 0.002780 0 0 SUSD3 203328 broad.mit.edu 37 9 95846964 95846964 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:95846964C>G ENST00000375472.3 + 5 739 c.703C>G c.(703-705)Ccc>Gcc p.P235A SUSD3_ENST00000375469.1_Missense_Mutation_p.P222A NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 235 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 CCCCAGACAGCCCCTGCCTGC 0.637000 52 157 0 0 0.003610 0 0 ARID1A 8289 broad.mit.edu 37 1 27089589 27089589 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:27089589C>T ENST00000324856.7 + 8 2916 c.2545C>T c.(2545-2547)Cct>Tct p.P849S ARID1A_ENST00000374152.2_Missense_Mutation_p.P466S|ARID1A_ENST00000457599.2_Missense_Mutation_p.P849S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 849 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGGCATCCCACCTTATGGCAC 0.587000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 17 43 0 0 0.004007 0 0 PRSS3 5646 broad.mit.edu 37 9 33799064 33799064 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:33799064C>G ENST00000361005.5 + 5 801 c.801C>G c.(799-801)ctC>ctG p.L267L RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.L210L|PRSS3_ENST00000342836.4_Silent_p.L224L|PRSS3_ENST00000429677.3_Silent_p.L203L|PRSS3_ENST00000495682.1_3'UTR NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 267 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) ACGGACAGCTCCAAGGAGTTG 0.522000 34 100 0 0 0.003271 0 0 PCF11 51585 broad.mit.edu 37 11 82880066 82880066 + Nonsense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:82880066C>T ENST00000298281.4 + 8 3141 c.2689C>T c.(2689-2691)Cag>Tag p.Q897* NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 897 Gly-rich. 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 ACCTCATGGTCAGCCTGTGGG 0.552000 20 38 0 0 0.000958 0 0 PRDM16 63976 broad.mit.edu 37 1 3319429 3319429 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:3319429T>G ENST00000378398.3 + 7 836 c.754T>G c.(754-756)Tac>Gac p.Y252D PRDM16_ENST00000442529.2_Missense_Mutation_p.Y251D|PRDM16_ENST00000441472.2_Missense_Mutation_p.Y251D|PRDM16_ENST00000514189.1_Missense_Mutation_p.Y252D|PRDM16_ENST00000511072.1_Missense_Mutation_p.Y252D|PRDM16_ENST00000378391.2_Missense_Mutation_p.Y251D|PRDM16_ENST00000270722.5_Missense_Mutation_p.Y251D|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 251 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCATAAGAAGTACACGTGTGG 0.637000 T EVI1 """MDS, AML""" 49 33 0 0 0.003214 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75558105 75558105 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:75558105C>A ENST00000604729.1 + 20 4367 c.4070C>A c.(4069-4071)tCc>tAc p.S1357Y ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1352Y|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S1319Y|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1357Y|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.S1352Y|NDST2_ENST00000456638.1_Intron zinc finger, SWIM-type containing 8 GCAAGAGACTCCAATATGGTG 0.617000 20 57 8.00594e-06 1.38876e-05 0.000958 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28338577 28338577 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr21:28338577C>T ENST00000284987.5 - 1 255 c.134G>A c.(133-135)cGg>cAg p.R45Q NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 45 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CCCCTGCCGCCGGCGGGGCTG 0.766000 7 13 0 0 0.003080 0 0 OR8H3 390152 broad.mit.edu 37 11 55890212 55890212 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55890212C>G ENST00000313472.3 + 1 364 c.364C>G c.(364-366)Cgc>Ggc p.R122G NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) GGCCTATGATCGCTATGCAGC 0.463000 56 159 0 0 0.003610 0 0 LRP2 4036 broad.mit.edu 37 2 170096254 170096254 + Silent SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:170096254A>T ENST00000263816.3 - 26 4362 c.4077T>A c.(4075-4077)ggT>ggA p.G1359G NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1359 EGF-like 5. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CGTGAGTACAACCACCATTGA 0.383000 17 27 0 0 0.001216 0 0 HNRNPU 3192 broad.mit.edu 37 1 245018845 245018845 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:245018845C>G ENST00000444376.2 - 12 2410 c.2176G>C c.(2176-2178)Gga>Cga p.G726R HNRNPU_ENST00000283179.9_Missense_Mutation_p.G745R NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 745 Gly-rich.|RNA-binding RGG-box. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CCACCACTTCCTCCACCGCCA 0.507000 30 110 0 0 0.001271 0 0 DCHS2 54798 broad.mit.edu 37 4 155163899 155163899 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:155163899C>A ENST00000357232.3 - 22 5601 c.5602G>T c.(5602-5604)Ggg>Tgg p.G1868W NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1868 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTGGGCATCCCTTTATCTGTG 0.383000 14 28 1.5739e-10 3.08478e-10 0.004007 1 0 ZNF705B 100132396 broad.mit.edu 37 8 7806692 7806692 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:7806692G>A ENST00000443676.1 + 3 170 c.54G>A c.(52-54)caG>caA p.Q18Q ZNF705B_ENST00000400120.3_Silent_p.Q18Q P0CI00 Z705L_HUMAN zinc finger protein 705B 18 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(2)|lung(2) 4 ACTTCACCCAGGAAGAGTGGG 0.428000 44 45 0 0 0.003610 0 0 OR5M3 219482 broad.mit.edu 37 11 56237806 56237806 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56237806G>T ENST00000312240.2 - 1 208 c.168C>A c.(166-168)ccC>ccA p.P56P NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AAAAGTACATGGGGTTGTTAA 0.393000 18 44 1.33834e-09 2.57284e-09 0.000958 1 0 ARHGAP35 2909 broad.mit.edu 37 19 47503715 47503715 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:47503715A>G ENST00000404338.3 + 6 4270 c.4270A>G c.(4270-4272)Atc>Gtc p.I1424V NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1424 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CTACCAGACAATCATTGAACT 0.592000 60 146 0 0 0.003610 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190981 42190981 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:42190981A>T ENST00000006724.3 - 2 437 c.236T>A c.(235-237)aTt>aAt p.I79N CEACAM7_ENST00000401731.1_Missense_Mutation_p.I79N|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000602225.1_Missense_Mutation_p.I79N|CEACAM7_ENST00000338196.4_Missense_Mutation_p.I79N NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 79 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) ATATCCTATAATTCGATAGTT 0.458000 46 116 0 0 0.003610 0 0 FLT3 2322 broad.mit.edu 37 13 28592684 28592684 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:28592684G>C ENST00000380982.4 - 20 2542 c.2461C>G c.(2461-2463)Cac>Gac p.H821D FLT3_ENST00000241453.7_Missense_Mutation_p.H821D|FLT3_ENST00000537084.1_Intron P36888 FLT3_HUMAN fms-related tyrosine kinase 3 821 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ACTTTCCCGTGGGTGACAAGC 0.468000 """Mis, O""" """AML, ALL""" 19 32 0 0 0.000958 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39380220 39380220 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:39380220G>T ENST00000402182.3 + 2 213 c.158G>T c.(157-159)gGg>gTg p.G53V APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G53V|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G53V Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 53 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) TGGGACACAGGGGTCTTTCGA 0.493000 23 7 7.87624e-14 1.65525e-13 0.002780 1 0 DNAH3 55567 broad.mit.edu 37 16 20948070 20948070 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:20948070C>T ENST00000261383.3 - 60 11759 c.11760G>A c.(11758-11760)gtG>gtA p.V3920V DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3920 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCACTTTACCCACAAGCATGC 0.572000 7 17 0 0 0.004482 0 0 POLE 5426 broad.mit.edu 37 12 133225973 133225973 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:133225973C>A ENST00000320574.5 - 31 3967 c.3924G>T c.(3922-3924)cgG>cgT p.R1308R POLE_ENST00000535270.1_Silent_p.R1281R NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1308 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CAGGACCATCCCGGATGGCCC 0.647000 DNA polymerases (catalytic subunits) 17 50 9.16793e-09 1.72124e-08 0.004990 1 0 DOCK2 1794 broad.mit.edu 37 5 169188524 169188524 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:169188524C>A ENST00000256935.8 + 25 2529 c.2447_splice c.e25-1 p.Q817_splice DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.Q309_splice|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 817 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCCCTCAGCCAACTCCTGTA 0.483000 38 117 5.59293e-11 1.10591e-10 0.001485 1 0 KCNMA1 3778 broad.mit.edu 37 10 78846339 78846339 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:78846339G>T ENST00000286627.5 - 11 2299 c.1347C>A c.(1345-1347)aaC>aaA p.N449K KCNMA1_ENST00000372443.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000404771.3_Missense_Mutation_p.N449K|KCNMA1_ENST00000404857.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000406533.3_Missense_Mutation_p.N449K|KCNMA1_ENST00000354353.5_Missense_Mutation_p.N449K|KCNMA1_ENST00000372440.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000286628.8_Missense_Mutation_p.N449K NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 449 RCK N-terminal. N -> D (in Ref. 12; AAD31173). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CAAGCTCCAGGTTGGGGGAGA 0.468000 16 26 8.60227e-14 1.80594e-13 0.004007 1 0 PTPRN2 5799 broad.mit.edu 37 7 157364177 157364177 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:157364177T>C ENST00000389413.3 - 19 2808 c.2705A>G c.(2704-2706)aAc>aGc p.N902S PTPRN2_ENST00000409483.1_Missense_Mutation_p.N893S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.N914S|PTPRN2_ENST00000404321.2_Missense_Mutation_p.N954S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.N931S NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 931 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GTAGCACTTGTTTACTTTTCT 0.338000 21 63 0 0 0.002299 0 0 GPR133 283383 broad.mit.edu 37 12 131466553 131466553 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:131466553G>A ENST00000261654.5 + 5 994 c.435G>A c.(433-435)gtG>gtA p.V145V GPR133_ENST00000535015.1_Silent_p.V177V NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 145 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAGGCTCTGTGGAGCTGTATA 0.587000 38 71 0 0 0.005524 0 0 OR2T11 127077 broad.mit.edu 37 1 248790227 248790227 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:248790227G>C ENST00000330803.2 - 1 264 c.203C>G c.(202-204)aCc>aGc p.T68S NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGAAAAGGGTGTCCATGAT 0.483000 41 57 0 0 0.002222 0 0 TTC40 54777 broad.mit.edu 37 10 134660493 134660493 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:134660493C>T ENST00000368586.5 - 43 6310 c.6210G>A c.(6208-6210)gtG>gtA p.V2070V TTC40_ENST00000263170.5_Silent_p.V231V NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 231 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CGACACACTCCACCATCTCCA 0.642000 7 16 0 0 0.001984 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346602 140346602 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:140346602C>A ENST00000289269.5 + 1 783 c.251C>A c.(250-252)gCg>gAg p.A84E PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 84 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCTGGGTGCGCCCAGTCCG 0.697000 11 28 4.3838e-07 7.88377e-07 0.001855 1 0 CYB5RL 606495 broad.mit.edu 37 1 54645006 54645006 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:54645006A>T ENST00000419823.2 - 6 784 c.560T>A c.(559-561)cTg>cAg p.L187Q CYB5RL_ENST00000542737.1_Missense_Mutation_p.L187Q|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000534324.1_Missense_Mutation_p.L187Q|CYB5RL_ENST00000401046.3_Missense_Mutation_p.L39Q|RP11-446E24.4_ENST00000311841.7_Intron NM_001031672.2 NP_001026842.2 Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 187 cytochrome-b5 reductase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1) 8 GCCCGCAGCCAGCAAGAGGAG 0.542000 9 12 0 0 0.000443 0 0 EPHA6 285220 broad.mit.edu 37 3 97454962 97454962 + Splice_Site SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:97454962T>C ENST00000389672.5 + 16 3166 c.3128_splice c.e16+1 p.V1043_splice NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 948 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 GACATCCTTGTGTAAGAGGCA 0.383000 44 35 0 0 0.001951 0 0 PTPRD 5789 broad.mit.edu 37 9 8460478 8460478 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:8460478C>G ENST00000381196.4 - 30 4351 c.3808G>C c.(3808-3810)Gtt>Ctt p.V1270L PTPRD_ENST00000486161.1_Missense_Mutation_p.V859L|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1248L|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1270L|PTPRD_ENST00000397611.3_Missense_Mutation_p.V856L|PTPRD_ENST00000355233.5_Missense_Mutation_p.V859L|PTPRD_ENST00000537002.1_Missense_Mutation_p.V856L|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1257L|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1270L|PTPRD_ENST00000397606.3_Missense_Mutation_p.V849L|PTPRD_ENST00000397617.3_Missense_Mutation_p.V849L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1270 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGACCTACAACCCAGATCAAG 0.448000 TSP Lung(15;0.13) 19 51 0 0 0.001216 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435606 18435606 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:18435606T>C ENST00000433979.1 + 2 707 c.591T>C c.(589-591)caT>caC p.H197H RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Silent_p.H197H|PIK3C2G_ENST00000535651.1_Silent_p.H197H|PIK3C2G_ENST00000538779.1_Silent_p.H197H NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 197 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GGAGTGGACATGTGAACATTG 0.383000 48 130 0 0 0.003610 0 0 ZNF655 79027 broad.mit.edu 37 7 99170651 99170651 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:99170651G>C ENST00000424881.1 + 4 1245 c.1025G>C c.(1024-1026)aGt>aCt p.S342T ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.S307T|ZNF655_ENST00000252713.4_Missense_Mutation_p.S307T|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S342T NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 307 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AAATGTAGCAGTTGTGAAAGA 0.413000 20 52 0 0 0.001216 0 0 CTNNA2 1496 broad.mit.edu 37 2 80816527 80816527 + Silent SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:80816527C>G ENST00000466387.1 + 19 2830 c.2106C>G c.(2104-2106)gcC>gcG p.A702A CTNNA2_ENST00000402739.4_Silent_p.A702A|CTNNA2_ENST00000343114.3_Silent_p.A381A|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000540488.1_Silent_p.A702A|CTNNA2_ENST00000496558.1_Silent_p.A702A|CTNNA2_ENST00000361291.4_Silent_p.A736A|CTNNA2_ENST00000541047.1_Silent_p.A702A|AC008067.2_ENST00000430876.1_RNA P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 702 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CAGAAGTGGCCAAATGGGACG 0.498000 35 57 0 0 0.003271 0 0 OR2F1 26211 broad.mit.edu 37 7 143657134 143657134 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:143657134G>T ENST00000392899.1 + 1 108 c.71G>T c.(70-72)cGg>cTg p.R24L NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R24L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TGGGACACTCGGGTCTCCCTG 0.473000 80 142 1.45978e-39 3.73696e-39 0.003610 1 0 DOCK2 1794 broad.mit.edu 37 5 169454881 169454881 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:169454881C>T ENST00000256935.8 + 34 3476 c.3396C>T c.(3394-3396)atC>atT p.I1132I DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.I624I|DOCK2_ENST00000540750.1_Silent_p.I193I NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1132 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAACGAAATCATCCTGAAGC 0.448000 26 63 0 0 0.001271 0 0 NRG3 10718 broad.mit.edu 37 10 84745231 84745231 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:84745231G>C ENST00000372142.2 + 11 1644 c.1370G>C c.(1369-1371)aGc>aCc p.S457T NRG3_ENST00000537893.1_Missense_Mutation_p.S304T|NRG3_ENST00000404547.1_Missense_Mutation_p.S678T|NRG3_ENST00000372141.2_Missense_Mutation_p.S654T|NRG3_ENST00000556918.1_Missense_Mutation_p.S484T|NRG3_ENST00000545131.1_Missense_Mutation_p.S304T|NRG3_ENST00000404576.2_Missense_Mutation_p.S458T NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 678 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GAACTGGCCAGCGTAGAAACC 0.473000 17 26 0 0 0.006122 0 0 HERC5 51191 broad.mit.edu 37 4 89407377 89407377 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:89407377G>T ENST00000264350.3 + 14 2002 c.1849G>T c.(1849-1851)Gtg>Ttg p.V617L HERC5_ENST00000508159.1_Missense_Mutation_p.V255L NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 617 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GAAAATGACTGTGGTAGGTAT 0.373000 12 32 3.07112e-06 5.37379e-06 0.000978 1 0 DCC 1630 broad.mit.edu 37 18 51013297 51013297 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:51013297G>T ENST00000442544.2 + 26 4483 c.3867G>T c.(3865-3867)gtG>gtT p.V1289V DCC_ENST00000581580.1_Silent_p.V924V|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1289 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CACTCTCAGTGGACCGAGGTT 0.473000 42 35 2.26627e-22 5.49325e-22 0.001706 1 0 PON1 5444 broad.mit.edu 37 7 94944746 94944746 + Silent SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:94944746A>G ENST00000222381.3 - 4 489 c.258T>C c.(256-258)ctT>ctC p.L86L PON1_ENST00000542556.1_Silent_p.L86L NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 86 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GGTCCATCAGAAGTATTTTTC 0.388000 20 55 0 0 0.001523 0 0 CHGB 1114 broad.mit.edu 37 20 5903868 5903868 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr20:5903868G>A ENST00000378961.4 + 4 1282 c.1078G>A c.(1078-1080)Gag>Aag p.E360K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 360 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 CCTGGAGTGGGAGCGCTATAG 0.527000 33 94 0 0 0.002836 0 0 DDR1 780 broad.mit.edu 37 6 30860151 30860151 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:30860151A>G ENST00000324771.8 + 10 1479 c.931A>G c.(931-933)Atg>Gtg p.M311V DDR1_ENST00000508312.1_Missense_Mutation_p.M329V|DDR1_ENST00000418800.2_Missense_Mutation_p.M311V|DDR1_ENST00000376569.3_Missense_Mutation_p.M311V|DDR1_ENST00000376567.2_Missense_Mutation_p.M311V|DDR1_ENST00000454612.2_Missense_Mutation_p.M311V|DDR1_ENST00000376575.3_Missense_Mutation_p.M311V|DDR1_ENST00000452441.1_Missense_Mutation_p.M311V|DDR1_ENST00000361741.4_Missense_Mutation_p.M42V|DDR1_ENST00000376568.3_Missense_Mutation_p.M311V|DDR1_ENST00000513240.1_Missense_Mutation_p.M311V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.M311V Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 311 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TGGCCCTGCCATGGCCTGGGA 0.697000 31 36 0 0 0.001786 0 0 FGA 2243 broad.mit.edu 37 4 155505381 155505381 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:155505381G>C ENST00000302053.3 - 6 2574 c.2496C>G c.(2494-2496)aaC>aaG p.N832K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 832 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CATAAGGACTGTTATTCCTTG 0.498000 34 100 0 0 0.003271 0 0 FAM155A 728215 broad.mit.edu 37 13 108518793 108518793 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:108518793A>G ENST00000375915.2 - 1 290 c.152T>C c.(151-153)cTg>cCg p.L51P NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 51 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ATCAGAGAGCAGGACTGTGAA 0.597000 40 81 0 0 0.005524 0 0 CCBL2 56267 broad.mit.edu 37 1 89430571 89430571 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:89430571C>A ENST00000260508.4 - 5 731 c.394G>T c.(394-396)Gta>Tta p.V132L CCBL2_ENST00000370485.2_Missense_Mutation_p.V132L|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.V98L NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 132 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TATGCTCCTACTGTCACAAGG 0.333000 26 24 7.07758e-08 1.30199e-07 0.004656 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885723 88885723 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:88885723G>T ENST00000319675.3 - 1 573 c.477C>A c.(475-477)ctC>ctA p.L159L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 159 p.L159L(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GCGACGCTGGGAGCAGCACGG 0.562000 26 61 1.37878e-21 3.318e-21 0.003330 1 0 ZNF107 51427 broad.mit.edu 37 7 64166767 64166767 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:64166767G>T ENST00000395391.1 + 4 1460 c.85G>T c.(85-87)Gtg>Ttg p.V29L ZNF107_ENST00000423627.1_Missense_Mutation_p.V29L|ZNF107_ENST00000344930.3_Missense_Mutation_p.V29L Q9UII5 ZN107_HUMAN zinc finger protein 107 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TTTCCAGAAAGTGACACTGAG 0.358000 14 17 1.5842e-08 2.96042e-08 0.001855 1 0 GSTM4 2948 broad.mit.edu 37 1 110203833 110203833 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:110203833C>G ENST00000369836.4 + 8 923 c.614C>G c.(613-615)cCa>cGa p.P205R GSTM4_ENST00000369833.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.P144R|GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000495742.1_3'UTR NM_000850.4 NP_000841.1 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 205 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) CGCTTCCTCCCAAAACCTCTG 0.577000 16 164 0 0 0.004990 0 0 PKHD1 5314 broad.mit.edu 37 6 51947209 51947209 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:51947209C>T ENST00000371117.3 - 4 537 c.262G>A c.(262-264)Gtg>Atg p.V88M PKHD1_ENST00000340994.4_Missense_Mutation_p.V88M NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 88 IPT/TIG 1; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CATGTCACCACAGGCAAATCC 0.488000 173 135 0 0 0.003610 0 0 LIX1L 128077 broad.mit.edu 37 1 145497393 145497393 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:145497393G>T ENST00000369308.3 + 4 672 c.597_splice c.e4-1 p.G200_splice RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse)-like 200 large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTACTACCAGGGCAACAGGGA 0.428000 10 41 0.000978159 0.00160783 0.000978 1 0 DCLRE1A 9937 broad.mit.edu 37 10 115608754 115608754 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:115608754A>G ENST00000361384.2 - 2 3027 c.2110T>C c.(2110-2112)Tat>Cat p.Y704H DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Y704H NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 704 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) ATTTTCTTATAGAATGGACAT 0.378000 Other identified genes with known or suspected DNA repair function 67 136 0 0 0.003610 0 0 MC5R 4161 broad.mit.edu 37 18 13826509 13826509 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:13826509G>A ENST00000324750.3 + 1 967 c.745G>A c.(745-747)Gtg>Atg p.V249M NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 249 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CGTGTTTACCGTGTGCTGGGC 0.587000 50 417 0 0 0.003610 0 0 XRN1 54464 broad.mit.edu 37 3 142030457 142030457 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:142030457G>C ENST00000264951.4 - 42 5134 c.5017C>G c.(5017-5019)Caa>Gaa p.Q1673E XRN1_ENST00000392981.2_Missense_Mutation_p.Q1661E NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1673 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CTATGGCCTTGAGAGGCAGTT 0.403000 30 170 0 0 0.001512 0 0 C3 718 broad.mit.edu 37 19 6686804 6686804 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:6686804C>G ENST00000245907.6 - 28 3691 c.3599G>C c.(3598-3600)gGc>gCc p.G1200A NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1200 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTTCAGCCTGCCCATCTGGGC 0.542000 71 163 0 0 0.003610 0 0 PAX5 5079 broad.mit.edu 37 9 36846845 36846845 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:36846845A>T ENST00000358127.4 - 9 1168 c.1094T>A c.(1093-1095)cTg>cAg p.L365Q PAX5_ENST00000414447.1_Missense_Mutation_p.L322Q|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.L331Q|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.C288S|PAX5_ENST00000522003.1_Missense_Mutation_p.L257Q|PAX5_ENST00000446742.1_Missense_Mutation_p.L265Q NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 365 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(11) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CTCACCAAGCAGCCCCGGGTT 0.632000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 9 23 0 0 0.000443 0 0 TMED6 146456 broad.mit.edu 37 16 69377541 69377541 + Silent SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:69377541G>A ENST00000288025.3 - 4 547 c.492C>T c.(490-492)gaC>gaT p.D164D RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron NM_144676.3 NP_653277.2 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain containing 6 164 transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 TTTGTGTGCCGTCCTATGAGA 0.428000 30 29 0 0 0.002096 0 0 SYT3 84258 broad.mit.edu 37 19 51133373 51133373 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:51133373G>T ENST00000338916.4 - 3 1363 c.730C>A c.(730-732)Ccc>Acc p.P244T SYT3_ENST00000600079.1_Missense_Mutation_p.P244T|SYT3_ENST00000544769.1_Missense_Mutation_p.P244T|SYT3_ENST00000593901.1_Missense_Mutation_p.P244T NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 244 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TCACTGCTGGGGTCCGGCTGG 0.642000 9 25 2.17888e-05 3.71854e-05 0.000443 1 0 BOD1L1 259282 broad.mit.edu 37 4 13605783 13605783 + Nonsense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:13605783G>T ENST00000040738.5 - 10 2876 c.2741C>A c.(2740-2742)tCa>tAa p.S914* NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 914 Lys-rich. DNA binding TTGAGTTTTTGATTTAGACTT 0.383000 34 103 4.3181e-19 1.01007e-18 0.002836 1 0 TNS3 64759 broad.mit.edu 37 7 47408665 47408665 + Silent SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:47408665G>T ENST00000398879.1 - 17 1944 c.1578C>A c.(1576-1578)ggC>ggA p.G526G TNS3_ENST00000311160.9_Silent_p.G526G|TNS3_ENST00000355730.3_Silent_p.G286G Q68CZ2 TENS3_HUMAN tensin 3 526 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CAACGTTGCTGCCAAAACCGT 0.627000 21 30 1.2644e-06 2.24596e-06 0.001523 1 0 NR0B1 190 broad.mit.edu 37 X 30326348 30326348 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:30326348T>G ENST00000378970.4 - 1 1367 c.1133A>C c.(1132-1134)tAc>tCc p.Y378S NR0B1_ENST00000378963.1_Missense_Mutation_p.Y83S|NR0B1_ENST00000453287.1_Missense_Mutation_p.Y378S NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 378 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) GAGGTAGGCGTACTCCTTGGT 0.587000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 22 0 0 0.001882 0 0 CASP8 841 broad.mit.edu 37 2 202137359 202137359 + Splice_Site SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:202137359A>G ENST00000358485.4 + 4 784 c.e4-1 CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000392258.3_Splice_Site NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TCCTCCTCTTAGAACCTGCTG 0.408000 HNSCC(4;0.00038) 27 52 0 0 0.005443 0 0 TLR7 51284 broad.mit.edu 37 X 12906382 12906382 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:12906382C>G ENST00000380659.3 + 3 2894 c.2755C>G c.(2755-2757)Cca>Gca p.P919A NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 919 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) ACTGGAAGACCCAAGAGAGAA 0.458000 56 47 0 0 0.003610 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991303 35991303 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:35991303G>T ENST00000274278.3 - 1 397 c.40C>A c.(40-42)Ctt>Att p.L14I UGT3A1_ENST00000503189.1_Missense_Mutation_p.L14I|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.L14I|UGT3A1_ENST00000513233.1_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 14 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACCCCAGAAAGAAGGAAGGCC 0.612000 33 79 6.00712e-18 1.36848e-17 0.002445 1 0 CSMD3 114788 broad.mit.edu 37 8 113418923 113418923 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:113418923G>A ENST00000297405.5 - 35 5883 c.5639C>T c.(5638-5640)tCt>tTt p.S1880F CSMD3_ENST00000455883.2_Missense_Mutation_p.S1776F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1840F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1810F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1880 Sushi 10. integral to membrane|plasma membrane p.S1880Y(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTCAGGCACAGAACTGCATTG 0.338000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 48 0 0 0.002299 0 0 DUSP27 92235 broad.mit.edu 37 1 167097589 167097589 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:167097589C>T ENST00000361200.2 + 6 3387 c.3221C>T c.(3220-3222)tCa>tTa p.S1074L DUSP27_ENST00000443333.1_Missense_Mutation_p.S1074L|DUSP27_ENST00000271385.5_Missense_Mutation_p.S1074L|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1074 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GTGGAAGAGTCATCCAAGTCA 0.522000 10 14 0 0 0.000443 0 0 SLC16A7 9194 broad.mit.edu 37 12 60173400 60173400 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:60173400T>C ENST00000261187.4 + 5 1541 c.1377T>C c.(1375-1377)gaT>gaC p.D459D SLC16A7_ENST00000543448.1_Silent_p.D360D|SLC16A7_ENST00000552432.1_Silent_p.D459D|SLC16A7_ENST00000552024.1_Silent_p.D459D|SLC16A7_ENST00000547379.1_Silent_p.D459D NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 459 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) ATTCGGAAGATGTTAACGTCA 0.368000 7 19 0 0 0.001984 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314461 25314461 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:25314461C>A ENST00000302874.4 + 1 54 c.30C>A c.(28-30)gcC>gcA p.A10A ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 10 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) GGTTTGAAGCCGTGGAGGCAG 0.652000 OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 108 6.7651e-33 1.71002e-32 0.003610 1 0 MTDH 92140 broad.mit.edu 37 8 98731417 98731417 + Splice_Site SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:98731417G>T ENST00000336273.3 + 10 1849 c.1521_splice c.e10+1 p.Q507_splice MTDH_ENST00000519934.1_Splice_Site_p.Q451_splice NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 507 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AAAATAGCCAGGTAATTTTTA 0.458000 24 54 1.5548e-18 3.57444e-18 0.005443 1 0 ARL4A 10124 broad.mit.edu 37 7 12728069 12728069 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:12728069G>C ENST00000396663.1 + 2 672 c.190G>C c.(190-192)Gga>Cga p.G64R ARL4A_ENST00000396662.1_Missense_Mutation_p.G64R|ARL4A_ENST00000356797.3_Missense_Mutation_p.G64R|ARL4A_ENST00000396664.2_Missense_Mutation_p.G64R|ARL4A_ENST00000404894.1_Missense_Mutation_p.G64R NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 64 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) GGTAACCTTGGGAAATTCTAA 0.398000 12 48 0 0 0.003163 0 0 TNIK 23043 broad.mit.edu 37 3 170805171 170805171 + Missense_Mutation SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:170805171C>T ENST00000436636.2 - 24 3190 c.2846G>A c.(2845-2847)cGc>cAc p.R949H TNIK_ENST00000357327.5_Missense_Mutation_p.R920H|TNIK_ENST00000341852.6_Missense_Mutation_p.R865H|TNIK_ENST00000284483.8_Missense_Mutation_p.R941H|TNIK_ENST00000538048.1_Missense_Mutation_p.R901H|TNIK_ENST00000369326.5_Missense_Mutation_p.R927H|TNIK_ENST00000460047.1_Missense_Mutation_p.R886H|TNIK_ENST00000488470.1_Missense_Mutation_p.R894H|TNIK_ENST00000470834.1_Missense_Mutation_p.R912H|TNIK_ENST00000475336.1_Missense_Mutation_p.R857H NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 949 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGTTGAGACGCGCCCCAGTCC 0.582000 26 146 0 0 0.005443 0 0 NOP14 8602 broad.mit.edu 37 4 2958516 2958516 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:2958516A>G ENST00000416614.2 - 3 418 c.353T>C c.(352-354)aTc>aCc p.I118T NOP14_ENST00000398071.4_Missense_Mutation_p.I118T|NOP14_ENST00000314262.6_Missense_Mutation_p.I118T|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.I118T P78316 NOP14_HUMAN NOP14 nucleolar protein 118 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 TAGATTGTAGATGCTTTTTTT 0.358000 7 40 0 0 0.001984 0 0 MCTP1 79772 broad.mit.edu 37 5 94353071 94353071 + Splice_Site SNP C C A rs111625916 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:94353071C>A ENST00000515393.1 - 2 837 c.838_splice c.e2+1 p.G280_splice MCTP1_ENST00000429576.2_Splice_Site_p.G59_splice|MCTP1_ENST00000312216.8_Splice_Site_p.G59_splice|MCTP1_ENST00000505208.1_Splice_Site_p.G59_splice NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 280 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.G280R(1) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ATGCTCTTACCTCCTCGATCT 0.403000 28 71 1.13719e-10 2.23759e-10 0.001512 1 0 ACSS3 79611 broad.mit.edu 37 12 81627154 81627154 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:81627154T>C ENST00000548058.1 + 13 2533 c.1623T>C c.(1621-1623)ggT>ggC p.G541G ACSS3_ENST00000548324.1_Silent_p.G223G|ACSS3_ENST00000261206.3_Silent_p.G540G Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 541 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TGGATGCTGGTTACATGGATG 0.343000 31 99 0 0 0.001786 0 0 NOL11 25926 broad.mit.edu 37 17 65717512 65717512 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:65717512A>G ENST00000253247.4 + 4 446 c.331A>G c.(331-333)Agg>Ggg p.R111G NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 111 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) AGAAGTATATAGGATACTTTC 0.368000 16 61 0 0 0.004990 0 0 CR1 1378 broad.mit.edu 37 1 207790123 207790123 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:207790123C>G ENST00000367049.4 + 41 6865 c.6865C>G c.(6865-6867)Cgc>Ggc p.R2289G CR1_ENST00000367053.1_Missense_Mutation_p.R1839G|CR1_ENST00000400960.2_Missense_Mutation_p.R1839G|CR1_ENST00000367051.1_Missense_Mutation_p.R1839G|CR1_ENST00000367052.1_Missense_Mutation_p.R1839G NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1839 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCCTGCCCCTCGCTGTGAACT 0.507000 37 114 0 0 0.004878 0 0 TNC 3371 broad.mit.edu 37 9 117849088 117849088 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:117849088C>A ENST00000350763.4 - 3 1333 c.922G>T c.(922-924)Gaa>Taa p.E308* TNC_ENST00000542877.1_Nonsense_Mutation_p.E308*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E308*|TNC_ENST00000535648.1_Nonsense_Mutation_p.E308*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E308*|TNC_ENST00000537320.1_Nonsense_Mutation_p.E308*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E308*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E308*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E308* NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 308 EGF-like 5. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CTGCAGTCTTCGCCCGTGAAA 0.557000 53 79 2.12129e-23 5.19832e-23 0.003610 1 0 ENPEP 2028 broad.mit.edu 37 4 111470910 111470910 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:111470910G>T ENST00000265162.5 + 17 2711 c.2369G>T c.(2368-2370)gGg>gTg p.G790V NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 790 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TATCGGTATGGGATGCAGAAC 0.388000 16 62 1.99824e-07 3.62609e-07 0.004990 1 0 KIRREL2 84063 broad.mit.edu 37 19 36357124 36357124 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:36357124T>C ENST00000360202.5 + 15 2055 c.1857T>C c.(1855-1857)ccT>ccC p.P619P KIRREL2_ENST00000586102.2_Silent_p.P599P|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000592409.1_Silent_p.P584P NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 619 cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCGAAGCCCCTGGAGGAGGTC 0.607000 20 88 0 0 0.001216 0 0 OR5D16 390144 broad.mit.edu 37 11 55607036 55607036 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55607036G>T ENST00000378396.1 + 1 809 c.809G>T c.(808-810)aGg>aTg p.R270M NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) AAAAACTCCAGGCACACAGTC 0.493000 21 67 3.62473e-10 7.0561e-10 0.001882 1 0 PPP4R4 57718 broad.mit.edu 37 14 94711942 94711942 + Missense_Mutation SNP G G T rs143566515 TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:94711942G>T ENST00000304338.3 + 13 1517 c.1363G>T c.(1363-1365)Gat>Tat p.D455Y NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 455 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TGCTCTTATAGATCATCTTCC 0.313000 24 66 3.5997e-14 7.62893e-14 0.002299 1 0 CCDC27 148870 broad.mit.edu 37 1 3679735 3679735 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:3679735G>T ENST00000294600.2 + 7 1102 c.1018G>T c.(1018-1020)Gac>Tac p.D340Y NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 340 Glu-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TGGCGAGGAGGACGAGGGCCT 0.682000 3 0 0.004672 0.00755576 0.004672 1 0 OR5M3 219482 broad.mit.edu 37 11 56237807 56237807 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56237807G>T ENST00000312240.2 - 1 207 c.167C>A c.(166-168)cCc>cAc p.P56H NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AAAGTACATGGGGTTGTTAAG 0.398000 17 46 6.94344e-10 1.34642e-09 0.006122 1 0 PDHA2 5161 broad.mit.edu 37 4 96761796 96761796 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:96761796C>A ENST00000295266.4 + 1 558 c.495C>A c.(493-495)gtC>gtA p.V165V NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 165 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ATGGCATCGTCGGTGCACAGG 0.507000 26 69 3.28513e-13 6.76925e-13 0.003954 1 0 TBC1D1 23216 broad.mit.edu 37 4 37903767 37903767 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:37903767C>A ENST00000261439.4 + 2 406 c.51C>A c.(49-51)gtC>gtA p.V17V TBC1D1_ENST00000402522.1_Silent_p.V17V|TBC1D1_ENST00000508802.1_Silent_p.V17V NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 17 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CTAACGAGGTCTCGGTGGATT 0.522000 31 73 3.99451e-17 8.97758e-17 0.001786 1 0 FCAMR 83953 broad.mit.edu 37 1 207131928 207131928 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:207131928A>T ENST00000324852.4 - 8 2141 c.1667T>A c.(1666-1668)aTg>aAg p.M556K FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 511 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 ATCCTGGAGCATCTTTCTTTC 0.537000 28 62 0 0 0.002445 0 0 REG1P 5969 broad.mit.edu 37 2 79364439 79364439 + RNA SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:79364439C>A ENST00000444841.1 - 0 195 CTGATCTGGGCCTTGGGCAAC 0.507000 13 10 2.27111e-07 4.10641e-07 0.001368 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32891911 32891911 + RNA SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:32891911G>T ENST00000330048.5 - 0 2812 NR_003083.2 TGACAGCCAGGATGATGGCGT 0.632000 16 61 1.01871e-10 2.00643e-10 0.001216 1 0 ZNF248 57209 broad.mit.edu 37 10 38121829 38121829 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:38121829C>A ENST00000395867.3 - 6 1004 c.454G>T c.(454-456)Ggc>Tgc p.G152C ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G152C|ZNF248_ENST00000494133.1_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 ATAATTAAGCCCGAAATATTT 0.323000 21 39 2.4624e-09 4.69775e-09 0.001216 1 0 NEK5 341676 broad.mit.edu 37 13 52676308 52676308 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:52676308G>A ENST00000355568.4 - 10 869 c.730C>T c.(730-732)Cct>Tct p.P244S NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 244 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CGGTCTCGAGGAGATACTTGA 0.423000 5 149 0 0 0.000602 0 0 ZNF629 23361 broad.mit.edu 37 16 30794552 30794552 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:30794552C>A ENST00000262525.4 - 3 1304 c.1097G>T c.(1096-1098)cGg>cTg p.R366L NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CAGGTGAGTCCGCTGGTGCTT 0.662000 19 25 2.5808e-16 5.75518e-16 0.006122 1 0 PDE1C 5137 broad.mit.edu 37 7 31890356 31890356 + Splice_Site SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr7:31890356C>G ENST00000396184.3 - 9 955 c.e9-1 PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TCAGCCAGTTCTGAAAGGAGA 0.468000 17 44 0 0 0.004990 0 0 OR4C6 219432 broad.mit.edu 37 11 55433323 55433323 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:55433323C>A ENST00000314259.3 + 1 710 c.681C>A c.(679-681)agC>agA p.S227R NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 AGTCTTACAGCTCTAAAGGGC 0.498000 37 99 4.11147e-13 8.45464e-13 0.003755 1 0 KIAA1244 57221 broad.mit.edu 37 6 138576847 138576847 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:138576847C>A ENST00000251691.4 + 10 1211 c.1045C>A c.(1045-1047)Cga>Aga p.R349R NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 349 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCTCTACCACCGAGTGCTGCT 0.602000 6 14 0.00116845 0.00191591 0.001168 1 0 SPDYE4 388333 broad.mit.edu 37 17 8656718 8656718 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:8656718G>A ENST00000328794.6 - 5 751 c.575C>T c.(574-576)cCc>cTc p.P192L NM_001128076.1 NP_001121548.1 A6NLX3 SPDE4_HUMAN speedy/RINGO cell cycle regulator family member E4 192 breast(1)|endometrium(2)|kidney(1) 4 ATGGAACAAGGGTCGCTGGGA 0.567000 5 14 0 0 0.000602 0 0 MYLK 4638 broad.mit.edu 37 3 123427705 123427705 + Silent SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:123427705C>A ENST00000360772.3 - 16 2358 c.1980G>T c.(1978-1980)ggG>ggT p.G660G MYLK_ENST00000346322.5_Silent_p.G591G|MYLK_ENST00000359169.1_Silent_p.G660G|MYLK_ENST00000360304.3_Silent_p.G660G|MYLK_ENST00000475616.1_Silent_p.G660G Q15746 MYLK_HUMAN myosin light chain kinase 660 Ig-like C2-type 5. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGATCTCATTCCCATTGTGCA 0.562000 22 127 9.95505e-16 2.18597e-15 0.002299 1 0 DCAF8L2 347442 broad.mit.edu 37 X 27766738 27766738 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:27766738G>T ENST00000451261.2 + 5 2125 c.1726G>T c.(1726-1728)Gac>Tac p.D576Y NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CAGCCTGTTTGACCAGTACAT 0.498000 11 9 1.58986e-06 2.799e-06 0.000673 1 0 ANK3 288 broad.mit.edu 37 10 62039399 62039399 + Splice_Site SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:62039399T>G ENST00000280772.1 - 2 306 c.e2-2 ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000373827.2_Splice_Site NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGCATCAGACTAAAATAAAAA 0.333000 25 64 0 0 0.004656 0 0 PTGER2 5732 broad.mit.edu 37 14 52781592 52781592 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:52781592G>C ENST00000245457.5 + 1 480 c.326G>C c.(325-327)tGc>tCc p.C109S PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 109 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) AGCCGCGCGTGCACCTACTTC 0.647000 23 67 0 0 0.002299 0 0 KPTN 11133 broad.mit.edu 37 19 47978726 47978726 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:47978726G>T ENST00000338134.3 - 12 1365 c.1258C>A c.(1258-1260)Cag>Aag p.Q420K KPTN_ENST00000536339.1_Missense_Mutation_p.Q180K NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 420 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) TCCAACCCCTGTAGCCGACGT 0.612000 10 20 3.86212e-05 6.52464e-05 0.000673 1 0 SAMD3 154075 broad.mit.edu 37 6 130536394 130536394 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:130536394C>G ENST00000532763.1 - 2 154 c.25G>C c.(25-27)Gtc>Ctc p.V9L SAMD3_ENST00000324172.6_Missense_Mutation_p.V9L|SAMD3_ENST00000457563.2_Missense_Mutation_p.V33L|SAMD3_ENST00000439090.2_Missense_Mutation_p.V9L|SAMD3_ENST00000437477.2_Missense_Mutation_p.V9L|SAMD3_ENST00000368134.2_Missense_Mutation_p.V9L|SAMD3_ENST00000533296.1_5'UTR Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 9 SAM. breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CAACTGCAGACCTGCTCAACT 0.398000 10 41 0 0 0.001368 0 0 NIN 51199 broad.mit.edu 37 14 51288662 51288662 + Missense_Mutation SNP T T G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:51288662T>G ENST00000245441.5 - 3 303 c.113A>C c.(112-114)cAc>cCc p.H38P NIN_ENST00000382041.3_Missense_Mutation_p.H38P|NIN_ENST00000382043.4_Missense_Mutation_p.H38P|NIN_ENST00000389868.3_Missense_Mutation_p.H38P|NIN_ENST00000530997.2_Missense_Mutation_p.H38P|NIN_ENST00000324330.9_Missense_Mutation_p.H38P|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000453196.1_Missense_Mutation_p.H38P NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 38 EF-hand 1. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GCTCAACATGTGGCAAAGGTC 0.587000 T PDGFRB MPD 67 244 0 0 0.003610 0 0 FAT3 120114 broad.mit.edu 37 11 92531613 92531613 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:92531613G>C ENST00000298047.6 + 9 5451 c.5434G>C c.(5434-5436)Gtg>Ctg p.V1812L FAT3_ENST00000525166.1_Missense_Mutation_p.V1662L|FAT3_ENST00000409404.2_Missense_Mutation_p.V1812L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1812 Cadherin 16. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGCTCTGCTTGTGTATCAGAT 0.478000 TCGA Ovarian(4;0.039) 10 23 0 0 0.000443 0 0 OR4F6 390648 broad.mit.edu 37 15 102346444 102346444 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:102346444A>T ENST00000328882.4 + 1 543 c.522A>T c.(520-522)ttA>ttT p.L174F NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D175fs*15(1) breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTAATGAATTAGATAGTTTCT 0.373000 48 80 0 0 0.003610 0 0 RP1 6101 broad.mit.edu 37 8 55537480 55537480 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:55537480C>T ENST00000220676.1 + 4 1186 c.1038C>T c.(1036-1038)acC>acT p.T346T NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 346 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) AGGAAGAAACCATAAAATGGA 0.343000 9 20 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113246700 113246700 + Missense_Mutation SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:113246700T>C ENST00000297405.5 - 68 10878 c.10634A>G c.(10633-10635)tAt>tGt p.Y3545C CSMD3_ENST00000455883.2_Missense_Mutation_p.Y3376C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y3505C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y3475C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3545 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTGGCTTTTATATACCCCTGT 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 82 0 0 0.003271 0 0 T 6862 broad.mit.edu 37 6 166571922 166571922 + Nonsense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr6:166571922C>A ENST00000296946.2 - 9 1657 c.1189G>T c.(1189-1191)Gga>Tga p.G397* T_ENST00000366871.3_Nonsense_Mutation_p.G339* NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 397 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) AGTGGGGATCCCGAGGAAGAG 0.692000 Chordoma, Familial Clustering of 21 69 9.95505e-16 2.18597e-15 0.002299 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216334 20216334 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr14:20216334C>A ENST00000331723.1 + 1 748 c.748C>A c.(748-750)Ctg>Atg p.L250M NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTGGTCAGCCTGATCTTCGT 0.453000 35 226 1.96642e-18 4.5104e-18 0.001485 1 0 IZUMO2 126123 broad.mit.edu 37 19 50657863 50657863 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:50657863A>G ENST00000293405.3 - 6 617 c.617T>C c.(616-618)gTg>gCg p.V206A NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 206 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 TCACGAGACCACGATGACCAC 0.577000 20 36 0 0 0.001216 0 0 CCDC73 493860 broad.mit.edu 37 11 32705039 32705039 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:32705039T>A ENST00000531481.1 - 7 748 c.472A>T c.(472-474)Act>Tct p.T158S CCDC73_ENST00000534415.1_Intron|CCDC73_ENST00000335185.5_Intron Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 0 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TCCCCCTAAGTACTAATCCAG 0.323000 10 26 0 0 0.000443 0 0 OR5M1 390168 broad.mit.edu 37 11 56380486 56380486 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56380486G>C ENST00000526538.1 - 1 492 c.493C>G c.(493-495)Cac>Gac p.H165D NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AAGGATAAGTGAAAGGTTAGC 0.463000 20 39 0 0 0.000958 0 0 LINC00842 643650 broad.mit.edu 37 10 47133366 47133366 + RNA SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:47133366T>A ENST00000422732.2 - 0 435 NR_033957.1 CTACTGCTGCTGCTGGAACCG 0.488000 20 184 0 0 0.001216 0 0 NRXN2 9379 broad.mit.edu 37 11 64390225 64390225 + Splice_Site SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:64390225C>A ENST00000265459.6 - 21 4634 c.4173_splice c.e21+1 p.Q1391_splice NRXN2_ENST00000409571.1_Splice_Site_p.Q1384_splice|NRXN2_ENST00000301894.2_Splice_Site_p.Q345_splice|NRXN2_ENST00000377551.1_Splice_Site_p.Q1391_splice|NRXN2_ENST00000377559.3_Splice_Site_p.Q1321_splice NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1391 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GGGGCCTCACCTGGGTGGTGC 0.622000 13 62 0.00185496 0.00303415 0.001855 1 0 TG 7038 broad.mit.edu 37 8 133899673 133899673 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:133899673G>T ENST00000220616.4 + 9 2096 c.2056G>T c.(2056-2058)Gct>Tct p.A686S TG_ENST00000377869.1_Missense_Mutation_p.A686S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 686 Thyroglobulin type-1 6. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTTTGTCCCTGCTTGTACTAG 0.557000 21 46 1.01871e-10 2.00643e-10 0.001216 1 0 OR6X1 390260 broad.mit.edu 37 11 123624645 123624645 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:123624645T>A ENST00000327930.2 - 1 608 c.582A>T c.(580-582)gaA>gaT p.E194D NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 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;0.0279) CGCCCAGGAGTTCCAAAATGC 0.438000 28 70 0 0 0.001271 0 0 EFTUD2 9343 broad.mit.edu 37 17 42931931 42931931 + Missense_Mutation SNP G G A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:42931931G>A ENST00000426333.2 - 22 2549 c.2252C>T c.(2251-2253)cCc>cTc p.P751L EFTUD2_ENST00000592576.1_Missense_Mutation_p.P741L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P751L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.P716L 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 2 751 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) TACCTCAGAGGGCAGAGTATC 0.517000 26 98 0 0 0.001061 0 0 GABBR2 9568 broad.mit.edu 37 9 101216274 101216274 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:101216274A>G ENST00000259455.2 - 7 1684 c.1225T>C c.(1225-1227)Ttc>Ctc p.F409L NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 409 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GTGACCCCGAAGAAGTTGGTC 0.532000 73 70 0 0 0.003610 0 0 CADM1 23705 broad.mit.edu 37 11 115080341 115080341 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:115080341G>T ENST00000537058.1 - 8 1051 c.1031C>A c.(1030-1032)aCc>aAc p.T344N CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Missense_Mutation_p.T344N|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.T344N|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 344 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) ggtggtggtggtggttgttgt 0.438000 14 38 4.3838e-07 7.88377e-07 0.001855 1 0 PIEZO2 63895 broad.mit.edu 37 18 10672752 10672752 + Silent SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:10672752G>C ENST00000302079.6 - 50 7751 c.7752C>G c.(7750-7752)gcC>gcG p.A2584A PIEZO2_ENST00000580640.1_Silent_p.A2672A|PIEZO2_ENST00000538948.1_Silent_p.A604A|PIEZO2_ENST00000503781.3_Silent_p.A2647A|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Silent_p.A439A Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2647 integral to membrane ion channel activity CCAGTTCCAGGGCCTGAGAGT 0.448000 34 288 0 0 0.004289 0 0 SSTR3 6753 broad.mit.edu 37 22 37603377 37603377 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr22:37603377T>A ENST00000328544.3 - 2 999 c.466A>T c.(466-468)Aca>Tca p.T156S SSTR3_ENST00000402501.1_Missense_Mutation_p.T156S NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 156 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 ACCGGAGCTGTGCGCCAGCGG 0.677000 30 53 0 0 0.001512 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891787 5891787 + Silent SNP C C T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:5891787C>T ENST00000581347.1 - 3 921 c.276G>A c.(274-276)gcG>gcA p.A92A TMEM200C_ENST00000383490.2_Silent_p.A92A|RP11-945C19.4_ENST00000577694.1_RNA A6NKL6 T200C_HUMAN transmembrane protein 200C 92 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 GGCTGCTGCCCGCAGGCGGCA 0.672000 12 131 0 0 0.001855 0 0 ELAVL4 1996 broad.mit.edu 37 1 50661318 50661319 + Frame_Shift_Ins INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:50661318_50661319insA ENST00000371824.1 + 5 851_852 c.594_595insA c.(592-597)ccgcggfs p.R199fs ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.R204fs|ELAVL4_ENST00000371827.1_Frame_Shift_Ins_p.R199fs|ELAVL4_ENST00000357083.4_Frame_Shift_Ins_p.R216fs|ELAVL4_ENST00000371819.1_Frame_Shift_Ins_p.R204fs|ELAVL4_ENST00000448907.2_Frame_Shift_Ins_p.R202fs|ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.R199fs P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 199 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GCCAGAAGCCCAGCGGTGCTAC 0.569 85 63 --- --- --- --- TXNIP 10628 broad.mit.edu 37 1 145439871 145439874 + Frame_Shift_Del DEL AAAG AAAG - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:145439871_145439874delAAAG ENST00000369317.4 + 3 751_754 c.417_420delAAAG c.(415-420)acfs p.TK139fs TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 139 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTCAAGAGACAAAGAAAAACTTTG 0.441 33 78 --- --- --- --- NID1 4811 broad.mit.edu 37 1 236208939 236208939 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:236208939delG ENST00000264187.6 - 3 652 c.570delC c.(568-570)tcfs p.S190fs NID1_ENST00000366595.3_Frame_Shift_Del_p.S190fs NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 190 NIDO. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AAATGGCATAGGAGCTGGAAT 0.413 15 35 --- --- --- --- PLD5 200150 broad.mit.edu 37 1 242253370 242253370 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr1:242253370delC ENST00000442594.2 - 11 1630 c.1121delG c.(1120-1122)gcfs p.G374fs PLD5_ENST00000427495.1_Frame_Shift_Del_p.G404fs|PLD5_ENST00000536534.1_Frame_Shift_Del_p.G466fs NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 466 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AAGGCCCGTGCCAGCATTCTG 0.423 65 85 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63283445 63283446 + Frame_Shift_Ins INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:63283445_63283446insT ENST00000282549.2 + 5 1335_1336 c.1059_1060insT c.(1057-1062)gttgtgfs p.V354fs OTX1_ENST00000366671.3_Frame_Shift_Ins_p.V354fs NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 354 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) GGTTCCAGGTCTTGTGAGCCCA 0.604 15 42 --- --- --- --- ANXA4 307 broad.mit.edu 37 2 70015233 70015233 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:70015233delG ENST00000394295.4 + 3 305 c.57delG c.(55-57)atfs p.M19fs ANXA4_ENST00000536030.1_Intron|ANXA4_ENST00000409920.1_Frame_Shift_Del_p.M19fs NM_001153.3 NP_001144.1 P09525 ANXA4_HUMAN annexin A4 17 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 TCAATGCCATGGAAGATGCCC 0.532 33 90 --- --- --- --- ERBB4 2066 broad.mit.edu 37 2 212812196 212812196 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr2:212812196delC ENST00000342788.4 - 3 690 c.380delG c.(379-381)gafs p.G127fs ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Frame_Shift_Del_p.G127fs|ERBB4_ENST00000436443.1_Frame_Shift_Del_p.G127fs NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 127 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCCAAAGTTTCCATCTTTTCT 0.338 TSP Lung(8;0.080) 15 29 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 8 876 --- --- --- --- PLCH1 23007 broad.mit.edu 37 3 155303945 155303945 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:155303945delC ENST00000460012.1 - 5 776 c.419delG c.(418-420)gtfs p.G140fs PLCH1_ENST00000447496.2_Frame_Shift_Del_p.G158fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.G140fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.G158fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.G140fs|PLCH1_ENST00000494598.1_Frame_Shift_Del_p.G158fs Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 158 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAAGCCGTCACCATTCTTATC 0.403 24 88 --- --- --- --- SPATA16 83893 broad.mit.edu 37 3 172607391 172607392 + Frame_Shift_Ins INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:172607391_172607392insT ENST00000351008.3 - 11 1861_1862 c.1678_1679insA c.(1678-1680)gaafs p.E560fs NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 560 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AAGTCGCTTCATTTTTGTTTTT 0.401 7 273 --- --- --- --- SPATA16 83893 broad.mit.edu 37 3 172607397 172607397 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr3:172607397delG ENST00000351008.3 - 11 1856 c.1673delC c.(1672-1674)aafs p.T558fs NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 558 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTTCATTTTTGTTTTTTGCCT 0.388 7 254 --- --- --- --- GAK 2580 broad.mit.edu 37 4 860744 860745 + Splice_Site INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:860744_860745insA ENST00000314167.4 - 21 2981_2982 c.2872_splice c.e21+1 p.*958_splice GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Splice_Site_p.*879_splice NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 958 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) AAACACGTACCAGCGGCAGGGG 0.629 45 106 --- --- --- --- KIT 3815 broad.mit.edu 37 4 55598063 55598063 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:55598063delC ENST00000288135.5 + 16 2357 c.2260delC c.(2260-2262)ccfs p.P754fs NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 754 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGATGTGACTCCCGCCATCAT 0.468 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 26 96 --- --- --- --- LPHN3 23284 broad.mit.edu 37 4 62933931 62933932 + Frame_Shift_Ins INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr4:62933931_62933932insA ENST00000512091.1 + 25 4405_4406 c.3658_3659insA c.(3658-3660)aatfs p.N1220fs LPHN3_ENST00000507164.1_Frame_Shift_Ins_p.N1322fs|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000506700.1_Frame_Shift_Ins_p.N1211fs|LPHN3_ENST00000511324.1_Frame_Shift_Ins_p.N1279fs|LPHN3_ENST00000506720.1_Intron|LPHN3_ENST00000514157.1_Frame_Shift_Ins_p.N1254fs|LPHN3_ENST00000508946.1_Intron|LPHN3_ENST00000509896.1_Frame_Shift_Ins_p.N1288fs|LPHN3_ENST00000545650.1_Intron|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000514591.1_Intron|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000508693.1_Frame_Shift_Ins_p.N1331fs|LPHN3_ENST00000504896.1_Frame_Shift_Ins_p.N1263fs Q9HAR2 LPHN3_HUMAN latrophilin 3 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CATTGCATATCAAATGTAATTT 0.307 12 68 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 123983092 123983092 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:123983092delG ENST00000306315.5 - 4 3420 c.2985delC c.(2983-2985)ccfs p.P995fs ZNF608_ENST00000504926.1_Frame_Shift_Del_p.P568fs NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 995 Ser-rich. intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TGTGGTAATAGGGAGAATGGG 0.463 43 107 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176675254 176675254 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr5:176675254delG ENST00000439151.2 + 11 4615 c.4570delG c.(4570-4572)ggfs p.G1524fs NSD1_ENST00000347982.4_Frame_Shift_Del_p.G1255fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.G1255fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.G1421fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1524 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ACACGATCCCGGGATGCCTGC 0.493 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 10 21 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27641568 27641569 + Frame_Shift_Ins INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr8:27641568_27641569insA ENST00000305188.8 + 5 1245_1246 c.1007_1008insA c.(1006-1008)taafs p.*336fs ESCO2_ENST00000397418.2_Intron NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 336 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) TCAGTCAATTCAAAAAGGTGAG 0.351 SC Phocomelia syndrome 12 49 --- --- --- --- C9orf131 138724 broad.mit.edu 37 9 35044685 35044686 + Frame_Shift_Ins INS - - C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr9:35044685_35044686insC ENST00000312292.5 + 2 2106_2107 c.2059_2060insC c.(2059-2061)cccfs p.P687fs C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.P639fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.P614fs NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 687 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TGAGCTCCCAGCCCCCAGCTCA 0.540 17 55 --- --- --- --- NHLRC2 374354 broad.mit.edu 37 10 115636695 115636695 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr10:115636695delG ENST00000369301.3 + 3 959 c.747delG c.(745-747)ttfs p.L249fs NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 249 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) ATAGAATTTTGGTCGTTTGGA 0.358 11 41 --- --- --- --- OR8K1 390157 broad.mit.edu 37 11 56114379 56114379 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:56114379delC ENST00000279783.2 + 1 959 c.865delC c.(865-867)ctfs p.P289fs NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) CCTGTTGATTCCTATGCTGAA 0.353 HNSCC(65;0.19) 26 90 --- --- --- --- OR4D9 390199 broad.mit.edu 37 11 59282896 59282896 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr11:59282896delC ENST00000329328.3 + 1 511 c.511delC c.(511-513)ccfs p.P171fs NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 TTTCTGTGGACCCAATGTTCT 0.532 37 103 --- --- --- --- IRAK3 11213 broad.mit.edu 37 12 66638281 66638282 + Frame_Shift_Ins INS - - GATGA TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:66638281_66638282insGATGA ENST00000261233.4 + 9 1324_1325 c.903_904insGATGA c.(901-906)ttatgafs p.*302fs IRAK3_ENST00000457197.2_Frame_Shift_Ins_p.*241fs NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 302 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) ACATCCTTTTGGATGATCAGTT 0.396 10 47 --- --- --- --- TPH2 121278 broad.mit.edu 37 12 72335486 72335487 + Frame_Shift_Ins INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:72335486_72335487insT ENST00000333850.3 + 2 369_370 c.228_229insT c.(226-231)ggtggtfs p.G77fs TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 77 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) AAGTTGGTGGATTGGTAAAAGC 0.416 34 65 --- --- --- --- CMKLR1 1240 broad.mit.edu 37 12 108686440 108686440 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:108686440delG ENST00000312143.7 - 3 663 c.300delC c.(298-300)gcfs p.A100fs CMKLR1_ENST00000552995.1_Frame_Shift_Del_p.A98fs|CMKLR1_ENST00000412676.1_Frame_Shift_Del_p.A100fs|CMKLR1_ENST00000550402.1_Frame_Shift_Del_p.A100fs|CMKLR1_ENST00000397688.2_Frame_Shift_Del_p.A98fs NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 100 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GGTAGTCCATGGCGGCATAGG 0.498 18 72 --- --- --- --- GLT1D1 144423 broad.mit.edu 37 12 129442110 129442110 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr12:129442110delG ENST00000442111.2 + 11 889 c.801delG c.(799-801)ccfs p.P267fs GLT1D1_ENST00000281703.6_Frame_Shift_Del_p.P187fs|GLT1D1_ENST00000542193.1_Frame_Shift_Del_p.P184fs|GLT1D1_ENST00000537468.1_Frame_Shift_Del_p.P272fs Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 267 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TAGAAGTACCGGTATTGGCCA 0.527 11 21 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 5 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48955409 48955409 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr13:48955409delG ENST00000267163.4 + 17 1663 c.1525delG c.(1525-1527)gafs p.G509fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 509 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTTGATTCTGGAACAGATTT 0.294 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 10 11 --- --- --- --- GABRB3 2562 broad.mit.edu 37 15 26806276 26806276 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:26806276delC ENST00000541819.2 - 9 1153 c.1051delG c.(1051-1053)agfs p.E351fs GABRB3_ENST00000299267.4_Frame_Shift_Del_p.E295fs|GABRB3_ENST00000400188.3_Frame_Shift_Del_p.E224fs|GABRB3_ENST00000311550.5_Frame_Shift_Del_p.E295fs|GABRB3_ENST00000545868.1_Frame_Shift_Del_p.E210fs P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 295 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGCAAGGTCTCCCGAAGGTGG 0.473 28 51 --- --- --- --- STRA6 64220 broad.mit.edu 37 15 74490147 74490147 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:74490147delG ENST00000323940.5 - 3 371 c.126delC c.(124-126)tcfs p.S42fs STRA6_ENST00000574278.1_Frame_Shift_Del_p.S57fs|STRA6_ENST00000535552.1_Frame_Shift_Del_p.S79fs|STRA6_ENST00000449139.2_Frame_Shift_Del_p.S42fs|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Frame_Shift_Del_p.S42fs|STRA6_ENST00000563965.1_Frame_Shift_Del_p.S81fs|STRA6_ENST00000395105.4_Frame_Shift_Del_p.S42fs|STRA6_ENST00000416286.3_Frame_Shift_Del_p.S42fs|STRA6_ENST00000432245.2_Frame_Shift_Del_p.S42fs NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 42 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 TGGTGTGGCAGGAGGGCACTT 0.622 15 25 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102312420 102312421 + RNA INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr15:102312420_102312421insT ENST00000561463.1 + 0 13788_13789 CTTCCTTGTCCTGGACCAGCCT 0.584 14 39 --- --- --- --- APOBR 55911 broad.mit.edu 37 16 28508798 28508798 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:28508798delG ENST00000564831.1 + 2 2469 c.2436delG c.(2434-2436)gafs p.E812fs APOBR_ENST00000431282.1_Frame_Shift_Del_p.E803fs|APOBR_ENST00000328423.5_Frame_Shift_Del_p.E803fs NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 803 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 TTGGTCTGGAGGGCTCAGCAG 0.587 8 49 --- --- --- --- CYLD 1540 broad.mit.edu 37 16 50811792 50811792 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr16:50811792delG ENST00000540145.1 + 8 1493 c.1078delG c.(1078-1080)ggfs p.G360fs CYLD_ENST00000568704.2_Frame_Shift_Del_p.G357fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.G357fs|CYLD_ENST00000427738.3_Frame_Shift_Del_p.G360fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.G357fs|CYLD_ENST00000311559.9_Frame_Shift_Del_p.G360fs|CYLD_ENST00000564326.1_Frame_Shift_Del_p.G357fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.G357fs Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 360 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.G360L(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) TACCTTAAATGGGTCTTCTGT 0.299 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 41 47 --- --- --- --- RTN4RL1 146760 broad.mit.edu 37 17 1841024 1841025 + Frame_Shift_Del DEL CA CA - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:1841024_1841025delCA ENST00000331238.5 - 2 109_110 c.91_92delTG c.(91-93)cfs p.C31fs NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 31 LRRNT. axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 CGCCGGGTAGCACACACAGTCC 0.658 13 36 --- --- --- --- SLC16A3 9123 broad.mit.edu 37 17 80195732 80195732 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr17:80195732delG ENST00000581287.1 + 3 3408 c.1086delG c.(1084-1086)atfs p.M362fs SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.M362fs|SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.M362fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.M362fs NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 362 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TGCTGCTGATGGAGGCGGTGG 0.682 10 30 --- --- --- --- ANKRD30B 374860 broad.mit.edu 37 18 14752966 14752966 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:14752966delG ENST00000358984.4 + 3 645 c.465delG c.(463-465)gtfs p.V155fs ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Frame_Shift_Del_p.V155fs NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 155 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TGTTAATGGTGGCAACACTGC 0.363 10 31 --- --- --- --- ASXL3 80816 broad.mit.edu 37 18 31319219 31319219 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr18:31319219delC ENST00000269197.5 + 11 1851 c.1851delC c.(1849-1851)agfs p.S617fs NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 617 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTTCTGAGAGCCCAGAGGGAG 0.473 15 13 --- --- --- --- MAST1 22983 broad.mit.edu 37 19 12951880 12951880 + Splice_Site DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:12951880delG ENST00000251472.4 + 3 287 c.248_splice c.e3+1 p.R83_splice MAST1_ENST00000591495.1_Splice_Site_p.R79_splice NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 83 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCCTCCCGAAGGTGAGTCCCT 0.637 25 67 --- --- --- --- CYP4F22 126410 broad.mit.edu 37 19 15651434 15651434 + Frame_Shift_Del DEL G G - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:15651434delG ENST00000269703.2 + 8 1044 c.845delG c.(844-846)cgfs p.R284fs CYP4F22_ENST00000601005.2_Frame_Shift_Del_p.R284fs NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 284 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 ATCCAGGAACGGCGGCGGGCA 0.617 33 70 --- --- --- --- ZNF99 7652 broad.mit.edu 37 19 22941185 22941186 + Frame_Shift_Ins INS - - A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:22941185_22941186insA ENST00000397104.3 - 5 1251_1252 c.1252_1253insT c.(1252-1254)caafs p.Q418fs ZNF99_ENST00000596209.1_Frame_Shift_Ins_p.Q509fs zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTCACATTTGCAAGGTTTCTCT 0.351 19 67 --- --- --- --- TTYH1 57348 broad.mit.edu 37 19 54933436 54933436 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chr19:54933436delC ENST00000301194.4 + 4 612 c.490delC c.(490-492)cgfs p.P164fs TTYH1_ENST00000376530.3_Frame_Shift_Del_p.P164fs|TTYH1_ENST00000391739.3_Frame_Shift_Del_p.P213fs|TTYH1_ENST00000376531.3_Frame_Shift_Del_p.P164fs Q9H313 TTYH1_HUMAN tweety family member 1 164 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GGTGCTCGAGCCGCGCACGGA 0.716 3 6 --- --- --- --- DMD 1756 broad.mit.edu 37 X 31198490 31198490 + Frame_Shift_Del DEL A A - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:31198490delA ENST00000357033.4 - 69 10289 c.10083delT c.(10081-10083)acfs p.T3361fs DMD_ENST00000361471.4_Frame_Shift_Del_p.T293fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.T901fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.T901fs|DMD_ENST00000343523.2_Frame_Shift_Del_p.T901fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.T293fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.T901fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.T293fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.T901fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.T293fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.T3357fs 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 3361 Interaction with SYNM (By similarity). 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 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) AACTTACCGGAGTGCAATATT 0.408 9 12 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70469326 70469327 + Frame_Shift_Ins INS - - T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:70469326_70469327insT ENST00000373998.1 - 7 2151_2152 c.1454_1455insA c.(1453-1455)tggfs p.W485fs ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.W487fs|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.W485fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.W487fs|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.W487fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.W485fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.W485fs NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 485 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TGTACGCCCCCAAGCAGGTTGT 0.564 6 7 --- --- --- --- L1CAM 3897 broad.mit.edu 37 X 153132315 153132315 + Frame_Shift_Del DEL C C - TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 015b1cc4-6fa5-43c1-9444-4a1af7663f7e c9ec8ba4-bfa2-4054-82e0-06344d3023e1 g.chrX:153132315delC ENST00000370060.1 - 19 2409 c.2220delG c.(2218-2220)tgfs p.W740fs L1CAM_ENST00000361699.4_Frame_Shift_Del_p.W740fs|L1CAM_ENST00000543994.1_Frame_Shift_Del_p.W742fs|L1CAM_ENST00000538883.1_Frame_Shift_Del_p.W742fs|L1CAM_ENST00000370057.3_Frame_Shift_Del_p.W740fs|L1CAM_ENST00000361981.3_Frame_Shift_Del_p.W735fs|L1CAM_ENST00000370055.1_Frame_Shift_Del_p.W735fs NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 740 Fibronectin type-III 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCAGTCCATCCACCGGAGCG 0.652 25 17 --- --- --- ---