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 ALAS1 211 broad.mit.edu 37 3 52246323 52246323 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:52246323G>A ENST00000394965.2 + 11 2009 c.1649G>A c.(1648-1650)aGa>aAa p.R550K ALAS1_ENST00000469224.1_Missense_Mutation_p.R550K|ALAS1_ENST00000484952.1_Missense_Mutation_p.R550K|ALAS1_ENST00000310271.2_Missense_Mutation_p.R550K NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 550 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTAATGAGCAGACATAACATC 0.498000 197 72 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44573628 44573628 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:44573628G>A ENST00000372409.3 + 11 1491 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 376 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 AAACGGATCCGAGAGAAGCAC 0.562000 13 4 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60591527 60591527 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:60591527C>G ENST00000406854.1 + 9 3192 c.2638C>G c.(2638-2640)Cta>Gta p.L880V PCNXL4_ENST00000404681.2_Missense_Mutation_p.L880V|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L646V|PCNXL4_ENST00000406949.1_Missense_Mutation_p.L646V|PCNXL4_ENST00000535349.1_Missense_Mutation_p.L87V pecanex-like 4 (Drosophila) CAAAGCAGTTCTATTAGGATA 0.408000 67 52 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31842778 31842778 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:31842778G>A ENST00000544672.1 - 5 338 c.42C>T c.(40-42)aaC>aaT p.N14N SLC44A4_ENST00000375562.4_Silent_p.N90N|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000229729.6_Silent_p.N90N NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 90 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AGCTGAAGATGTTGAAGTACA 0.597000 44 27 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42839208 42839208 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:42839208G>A ENST00000334370.4 + 4 1215 c.580G>A c.(580-582)Gag>Aag p.E194K MEGF8_ENST00000251268.6_Missense_Mutation_p.E194K NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 194 EGF-like 2. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ATGCCGCTGTGAGCCTGGCTT 0.597000 9 16 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47821561 47821561 + Missense_Mutation SNP T T G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:47821561T>G ENST00000359568.5 + 26 4995 c.4888T>G c.(4888-4890)Tcg>Gcg p.S1630A PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1630 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) CGAGCCTCCTTCGGGCAGCCC 0.557000 55 50 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21300833 21300833 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:21300833G>A ENST00000596143.1 + 5 1688 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR NM_182515.3 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 CTACAAATGTGAAGAATGTGG 0.368000 21 43 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54374161 54374161 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:54374161C>T ENST00000306888.2 - 2 577 c.326G>A c.(325-327)cGa>cAa p.R109Q LNX1-AS1_ENST00000510785.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.R205Q|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000514364.1_RNA NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 205 cytoplasm zinc ion binding p.R109Q(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACCCCTAGTTCGGTTGCTCCG 0.552000 6 21 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73553278 73553278 + Missense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:73553278C>A ENST00000224721.6 + 47 6613 c.6608C>A c.(6607-6609)gCc>gAc p.A2203D NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2198 Cadherin 21. EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902). 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 AATATCACGGCCATTGACCAC 0.572000 23 23 2.89027e-11 2.99062e-11 1 1 0 KRIT1 889 broad.mit.edu 37 7 91863905 91863905 + Splice_Site SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:91863905C>T ENST00000394507.1 - 11 1630 c.847G>A c.(847-849)Gaa>Aaa p.E283K KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000412043.2_Splice_Site_p.E283K|KRIT1_ENST00000394505.2_Splice_Site_p.E283K|KRIT1_ENST00000340022.2_Splice_Site_p.E283K NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 283 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CACTGTCGTTCCCTAATCATT 0.368000 26 43 0 0 1 0 0 C2orf48 348738 broad.mit.edu 37 2 10350668 10350668 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:10350668C>T ENST00000381786.3 + 4 714 c.425C>T c.(424-426)aCa>aTa p.T142I NM_182626.2 NP_872432.1 Q96LS8 CB048_HUMAN chromosome 2 open reading frame 48 142 endometrium(1)|lung(7) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) CTGGACTCCACACAGGCCTGC 0.567000 31 61 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386419 56386419 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:56386419C>T ENST00000355701.3 - 22 5084 c.4214G>A c.(4213-4215)cGg>cAg p.R1405Q BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1405Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1345Q NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1405 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCTCTCCTCCGGCTGCTTCC 0.642000 47 58 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79025761 79025761 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:79025761G>A ENST00000446378.2 + 2 1204 c.1173G>A c.(1171-1173)ctG>ctA p.L391L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 391 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) CTATGTTCCTGAGAACAACAA 0.468000 16 9 0 0 1 0 0 ECHDC2 55268 broad.mit.edu 37 1 53387303 53387303 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:53387303G>A ENST00000371522.4 - 1 136 c.43C>T c.(43-45)Cgg>Tgg p.R15W ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.R15W|ECHDC2_ENST00000541281.1_5'UTR NM_001198961.1 NP_001185890.1 Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 15 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 CCGCGGGCCCGAAGGGGCCTC 0.731000 5 6 0 0 1 0 0 LRRC52 440699 broad.mit.edu 37 1 165532806 165532806 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:165532806G>A ENST00000294818.1 + 2 977 c.687G>A c.(685-687)ggG>ggA p.G229G RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 229 LRRCT. integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CCCGGGTGGGGAACCCACTCC 0.557000 13 26 0 0 1 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36322537 36322537 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:36322537G>A ENST00000361383.6 + 1 130 c.13G>A c.(13-15)Gaa>Aaa p.E5K CTNNBL1_ENST00000405275.2_5'UTR NM_030877.3 NP_110517.2 Q8WYA6 CTBL1_HUMAN catenin, beta like 1 5 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GGACGTGGGCGAACTTCTGAG 0.662000 3 6 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88890382 88890382 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:88890382A>G ENST00000303236.3 - 5 1257 c.956T>C c.(955-957)gTt>gCt p.V319A EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V168A NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 319 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GAATGCCATAACTTTCCAGTC 0.428000 33 67 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100092767 100092767 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:100092767C>G ENST00000375202.2 + 32 3476 c.2124C>G c.(2122-2124)ttC>ttG p.F708L CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.F705L|CCDC180_ENST00000357054.1_Missense_Mutation_p.F847L|CCDC180_ENST00000529487.1_Missense_Mutation_p.F708L coiled-coil domain containing 180 TGGAGTCCTTCATAACTGAAG 0.463000 16 36 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158519924 158519924 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:158519924C>T ENST00000415822.2 + 1 271 c.130C>T c.(130-132)Ccg>Tcg p.P44S MFSD1_ENST00000392813.4_Missense_Mutation_p.P44S|MFSD1_ENST00000264266.8_5'UTR NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 0 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTTCCCCTCTCCGTCTCCTGC 0.682000 5 7 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74041408 74041408 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:74041408C>T ENST00000307877.2 - 12 1520 c.1359G>A c.(1357-1359)gaG>gaA p.E453E SRP68_ENST00000539137.1_Silent_p.E415E|SRP68_ENST00000602720.1_Silent_p.E114E|SRP68_ENST00000355113.5_Silent_p.E352E|SRP68_ENST00000542536.2_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 453 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 TGAGGCCTATCTCTTTCTGGA 0.463000 30 46 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25312422 25312422 + Silent SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:25312422C>A ENST00000524413.1 + 3 617 c.270C>A c.(268-270)atC>atA p.I90I THNSL1_ENST00000376356.4_Silent_p.I90I Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 90 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) ATGATGATATCCTTGAAAAAA 0.383000 38 73 1.06647e-15 1.11512e-15 1 1 0 BPTF 2186 broad.mit.edu 37 17 65908474 65908474 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:65908474G>A ENST00000321892.4 + 13 4913 c.4852G>A c.(4852-4854)Gat>Aat p.D1618N BPTF_ENST00000424123.3_Missense_Mutation_p.D1479N|BPTF_ENST00000306378.6_Missense_Mutation_p.D1492N|BPTF_ENST00000335221.5_Missense_Mutation_p.D1618N Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1618 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GAGTTCTTCAGATGCTGAAGG 0.433000 33 61 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914757 46914757 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:46914757C>T ENST00000307522.3 - 1 2084 c.1311G>A c.(1309-1311)agG>agA p.R437R NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 437 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CAGCCTCTGCCCTCTGGCCAG 0.612000 31 53 0 0 1 0 0 SPAG4 6676 broad.mit.edu 37 20 34204137 34204137 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:34204137C>T ENST00000374273.3 + 1 324 c.212C>T c.(211-213)aCa>aTa p.T71I NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 71 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GGAGGAACCACATGGGCAGGA 0.741000 7 10 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12860053 12860053 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:12860053C>T ENST00000379672.5 + 15 1632 c.1332C>T c.(1330-1332)ttC>ttT p.F444F ARHGAP44_ENST00000262444.9_Silent_p.F444F|ARHGAP44_ENST00000340825.3_Silent_p.F444F NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 444 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 CAGACTGGTTCTTCCCTGGGG 0.522000 8 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179398127 179398127 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:179398127G>A ENST00000589042.1 - 358 103439 c.103215C>T c.(103213-103215)ctC>ctT p.L34405L TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.L31837L|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000591111.1_Silent_p.L32764L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Silent_p.L25465L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Silent_p.L25340L|TTN_ENST00000342175.6_Silent_p.L25532L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32764 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) TGTTAGGCCCGAGGGACAGTG 0.473000 27 51 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52952424 52952424 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:52952424C>G ENST00000349258.4 - 4 2066 c.1522G>C c.(1522-1524)Gac>Cac p.D508H THSD1_ENST00000258613.4_Missense_Mutation_p.D561H|THSD1_ENST00000544466.1_Missense_Mutation_p.D182H NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 561 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ATGGCAGTGTCTGTCAGGGGA 0.522000 72 30 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29197718 29197718 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:29197718G>C ENST00000240100.2 - 2 865 c.476C>G c.(475-477)tCt>tGt p.S159C DUSP4_ENST00000240101.2_Missense_Mutation_p.S68C NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 159 Rhodanese. endoderm formation|inactivation of MAPK activity|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 nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) CTTGGTTTTAGAACAGAATTC 0.572000 OREG0018686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 5 0 0 1 0 0 SULT2A1 6822 broad.mit.edu 37 19 48374720 48374720 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:48374720A>G ENST00000222002.3 - 6 989 c.850T>C c.(850-852)Tgg>Cgg p.W284R NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 284 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CGTTATTCCCATGGGAACAGC 0.433000 15 34 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21721355 21721355 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:21721355C>T ENST00000388958.3 + 12 1252 c.1251C>T c.(1249-1251)ctC>ctT p.L417L OTOA_ENST00000286149.4_Silent_p.L431L|OTOA_ENST00000388956.4_Silent_p.L338L|OTOA_ENST00000388957.3_Silent_p.L93L NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 431 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TCTCCACCCTCAACCAGGTCT 0.517000 13 23 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109507866 109507866 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:109507866G>A ENST00000356711.2 + 11 1384 c.1258G>A c.(1258-1260)Gag>Aag p.E420K MYO16_ENST00000357550.2_Missense_Mutation_p.E420K|MYO16_ENST00000251041.5_Missense_Mutation_p.E420K NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 420 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCTGCTCTATGAGATTCAGAA 0.478000 14 13 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33589339 33589339 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:33589339G>A ENST00000404816.2 + 30 4809 c.4456G>A c.(4456-4458)Gag>Aag p.E1486K LTBP1_ENST00000407925.1_Missense_Mutation_p.E1160K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E1105K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E1107K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E1161K|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1487K|LTBP1_ENST00000272273.5_Missense_Mutation_p.E384K|LTBP1_ENST00000418533.2_Missense_Mutation_p.E1118K Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1486 EGF-like 16; 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) TGTTAATACAGAGGGCTCTTA 0.423000 24 37 0 0 1 0 0 LCN2 3934 broad.mit.edu 37 9 130911943 130911943 + Splice_Site SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:130911943G>A ENST00000540948.1 + 1 211 c.e1+1 LCN2_ENST00000372998.1_Splice_Site|LCN2_ENST00000277480.2_Splice_Site|LCN2_ENST00000373017.1_Splice_Site|LCN2_ENST00000470902.1_Splice_Site|LCN2_ENST00000373013.2_Splice_Site P80188 NGAL_HUMAN lipocalin 2 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 GGACAACCAAGTAAGGGGCCA 0.637000 18 33 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56490853 56490853 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:56490853G>A ENST00000267101.3 + 20 2739 c.2299G>A c.(2299-2301)Gac>Aac p.D767N ERBB3_ENST00000450146.2_Missense_Mutation_p.D124N|ERBB3_ENST00000415288.2_Missense_Mutation_p.D708N|ERBB3_ENST00000553131.1_Missense_Mutation_p.D8N NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 767 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TGGCAGCCTGGACCATGCCCA 0.512000 29 35 0 0 1 0 0 LMNB1 4001 broad.mit.edu 37 5 126113516 126113516 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:126113516G>A ENST00000261366.5 + 1 677 c.316G>A c.(316-318)Gag>Aag p.E106K LMNB1_ENST00000395354.1_Missense_Mutation_p.E106K|LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 106 Coil 1B.|Rod. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) GCTGCAGATCGAGCTGGGCAA 0.711000 2 0 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328436 88328436 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:88328436G>A ENST00000325089.6 + 2 1012 c.793G>A c.(793-795)Gag>Aag p.E265K SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 265 LRRCT 1. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGTAGTTTGTGAGACCCCCTT 0.512000 38 61 0 0 1 0 0 IGHV3-11 28450 broad.mit.edu 37 14 106573262 106573262 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:106573262C>T ENST00000390601.2 - 0 441 GCCGTGTCCTCGGCTCTCAGG 0.552000 100 76 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130839176 130839176 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:130839176C>G ENST00000245255.3 + 10 1411 c.1139C>G c.(1138-1140)gCc>gGc p.A380G NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 380 PAZ. 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) CCAGGGCCTGCCATGCTCATT 0.537000 36 79 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111912967 111912967 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:111912967G>A ENST00000368761.5 - 2 801 c.323C>T c.(322-324)tCt>tTt p.S108F TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.S108F|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.S117F NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 117 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) AGAGCACCCAGAAGGGAAAGC 0.552000 20 17 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47344505 47344505 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:47344505G>A ENST00000398879.1 - 21 3113 c.2747C>T c.(2746-2748)tCg>tTg p.S916L TNS3_ENST00000355730.3_Missense_Mutation_p.S676L|TNS3_ENST00000311160.9_Missense_Mutation_p.S916L Q68CZ2 TENS3_HUMAN tensin 3 916 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 GGAGGGCGTCGAGGACGCATC 0.567000 10 13 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88974366 88974366 + Splice_Site SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:88974366T>C ENST00000556564.1 - 4 635 c.e4-2 PTPN21_ENST00000328736.3_Splice_Site|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_Splice_Site NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TACTGATACCTATAAAAAATG 0.338000 10 6 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107474514 107474514 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:107474514C>T ENST00000415149.2 + 10 1222 c.895C>T c.(895-897)Caa>Taa p.Q299* BBX_ENST00000402543.1_Nonsense_Mutation_p.Q299*|BBX_ENST00000416476.2_Nonsense_Mutation_p.Q299*|BBX_ENST00000406780.1_Nonsense_Mutation_p.Q299*|BBX_ENST00000325805.8_Nonsense_Mutation_p.Q299* NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGCACTCTTTCAACTGGCAGA 0.388000 25 59 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28193195 28193195 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:28193195A>C ENST00000302326.4 - 1 4291 c.3337T>G c.(3337-3339)Tcg>Gcg p.S1113A NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1113 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 TCAGGGGTCGAGGTAGAGTTA 0.756000 T ETV6 """AML, meningioma""" 6 16 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37619354 37619354 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:37619354C>T ENST00000447079.4 + 1 1063 c.1030C>T c.(1030-1032)Cgg>Tgg p.R344W CDK12_ENST00000430627.2_Missense_Mutation_p.R344W NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 344 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GTCTCTGAGTCGGAGTCCACT 0.552000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 18 15 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125848278 125848278 + Splice_Site SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:125848278C>T ENST00000392693.3 - 18 3404 c.3277G>A c.(3277-3279)Ggt>Agt p.G1093S CDON_ENST00000263577.7_Splice_Site_p.G1093S|CDON_ENST00000531738.1_Splice_Site_p.G470S NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 1093 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ATTCCACCACCCTGGACAGGA 0.443000 4 10 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168093 64168093 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:64168093G>C ENST00000395391.1 + 4 2786 c.1411G>C c.(1411-1413)Gag>Cag p.E471Q ZNF107_ENST00000423627.1_Missense_Mutation_p.E471Q|ZNF107_ENST00000344930.3_Missense_Mutation_p.E471Q Q9UII5 ZN107_HUMAN zinc finger protein 107 471 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) CTATAAATGTGAGGAATGTGG 0.363000 19 35 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33605015 33605015 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:33605015G>C ENST00000321505.4 + 10 3823 c.3643G>C c.(3643-3645)Gac>Cac p.D1215H KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D1221H|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D1221H KIAA1549-like CTTCAAGCCTGACACCATGAT 0.567000 2 0 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70944596 70944596 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:70944596C>T ENST00000357250.6 - 34 2318 c.2160G>A c.(2158-2160)cgG>cgA p.R720R COL9A1_ENST00000320755.7_Silent_p.R477R|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.R477R NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 720 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CAGGAAGCCCCCGACTTCCCT 0.612000 13 11 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32157645 32157645 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:32157645G>T ENST00000373672.3 - 17 1734 c.1218C>A c.(1216-1218)gaC>gaA p.D406E COL16A1_ENST00000373668.3_Missense_Mutation_p.D406E|COL16A1_ENST00000271069.6_Missense_Mutation_p.D406E NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 406 Triple-helical region 9 (COL9) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TGATGCCTCCGTCGCCCTTCT 0.647000 21 49 2.39187e-15 2.4966e-15 1 1 0 MRPS22 56945 broad.mit.edu 37 3 139071544 139071544 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:139071544G>A ENST00000495075.1 + 8 1220 c.788G>A c.(787-789)cGt>cAt p.R263H MRPS22_ENST00000310776.4_Missense_Mutation_p.R263H|MRPS22_ENST00000465056.1_Missense_Mutation_p.R262H|MRPS22_ENST00000478464.1_Missense_Mutation_p.R222H P82650 RT22_HUMAN mitochondrial ribosomal protein S22 263 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 GACCTTTTACGTTCAACAAGA 0.323000 21 41 0 0 1 0 0 APMAP 57136 broad.mit.edu 37 20 24973288 24973288 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:24973288G>C ENST00000217456.2 - 1 327 c.37C>G c.(37-39)Ctg>Gtg p.L13V APMAP_ENST00000447138.1_Missense_Mutation_p.L13V NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein TGCGGCCGCAGGGGCCGGCGC 0.716000 4 1 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59720693 59720693 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:59720693C>T ENST00000361421.1 - 8 1748 c.1528G>A c.(1528-1530)Gac>Aac p.D510N NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 510 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CTGCAGTAGTCGTTATTCCAG 0.537000 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 43 0 0 1 0 0 EBAG9 9166 broad.mit.edu 37 8 110575725 110575725 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:110575725G>A ENST00000531677.1 + 6 621 c.621G>A c.(619-621)gtG>gtA p.V207V EBAG9_ENST00000337573.5_Intron|EBAG9_ENST00000395785.2_Intron O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 174 apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2) 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) TAGAGAGAGTGAGTCTGGGTC 0.383000 64 90 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35492234 35492234 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:35492234G>A ENST00000378880.2 - 5 1072 c.627C>T c.(625-627)agC>agT p.S209S PAMR1_ENST00000278360.3_Silent_p.S209S|PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Silent_p.S169S|PAMR1_ENST00000534803.1_5'UTR NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 209 CUB. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 AGGATCCTATGCTCTGGATAG 0.522000 15 14 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 876999 876999 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:876999G>T ENST00000312090.6 - 9 1685 c.1535C>A c.(1534-1536)aCg>aAg p.T512K MED16_ENST00000395808.3_Missense_Mutation_p.T512K|MED16_ENST00000269814.4_Missense_Mutation_p.T512K|MED16_ENST00000325464.1_Missense_Mutation_p.T512K|MED16_ENST00000589119.1_Missense_Mutation_p.T512K|MED16_ENST00000606828.1_Intron Q9Y2X0 MED16_HUMAN mediator complex subunit 16 512 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) GGTCTGGCGCGTGTACTCCTC 0.697000 4 3 0.00909568 0.00912631 1 1 0 TTN 7273 broad.mit.edu 37 2 179429435 179429435 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:179429435C>G ENST00000589042.1 - 326 81648 c.81424G>C c.(81424-81426)Gag>Cag p.E27142Q TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24574Q|TTN_ENST00000591111.1_Missense_Mutation_p.E25501Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18202Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18077Q|TTN_ENST00000342175.6_Missense_Mutation_p.E18269Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25501 Ig-like 129. 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) AACTCATACTCAAGGCCCTCA 0.418000 19 30 0 0 1 0 0 UPK1A 11045 broad.mit.edu 37 19 36159496 36159496 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:36159496C>T ENST00000222275.2 + 2 225 c.225C>T c.(223-225)ttC>ttT p.F75F UPK1A_ENST00000379013.2_Silent_p.F75F|UPK1A-AS1_ENST00000443196.1_RNA NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 75 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCTCCTTCTTCATGGTAGCCA 0.597000 7 13 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86048162 86048162 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:86048162G>C ENST00000414626.2 + 13 3122 c.2233G>C c.(2233-2235)Gaa>Caa p.E745Q LRRCC1_ENST00000360375.3_Missense_Mutation_p.E765Q Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 765 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 TTTAAGGACAGAAAGAAAAGT 0.363000 20 34 0 0 1 0 0 SERF2 10169 broad.mit.edu 37 15 44086132 44086132 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:44086132C>T ENST00000409960.2 + 3 522 c.475C>T c.(475-477)Cag>Tag p.Q159* SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000249786.4_3'UTR|SERF2_ENST00000339624.5_Nonsense_Mutation_p.Q122*|SERF2_ENST00000402131.1_3'UTR|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000403425.1_3'UTR|SERF2_ENST00000381359.1_3'UTR|SERF2_ENST00000409614.1_3'UTR NM_001199875.1 NP_001186804.1 P84101 SERF2_HUMAN small EDRK-rich factor 2 0 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) TCCTTCCCCTCAGGTAGCCTC 0.582000 4 5 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45872219 45872219 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:45872219T>C ENST00000391945.4 - 4 292 c.215A>G c.(214-216)tAc>tGc p.Y72C ERCC2_ENST00000391944.3_Missense_Mutation_p.Y72C|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y72C|ERCC2_ENST00000485403.2_Missense_Mutation_p.Y48C|ERCC2_ENST00000391940.4_Missense_Mutation_p.Y48C NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 72 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TCTTGAGCAGTAGATGAGTTT 0.577000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 28 50 0 0 1 0 0 NRIP2 83714 broad.mit.edu 37 12 2944131 2944131 + Missense_Mutation SNP G G C rs146664830 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:2944131G>C ENST00000337508.4 - 1 59 c.19C>G c.(19-21)Ctt>Gtt p.L7V NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 7 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGGAGGGAAAGAGGAAAAATA 0.562000 15 23 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50335123 50335123 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:50335123C>T ENST00000394697.2 + 10 1706 c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W ADCY7_ENST00000254235.3_Missense_Mutation_p.R456W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R456W|ADCY7_ENST00000566433.2_Missense_Mutation_p.R456W|ADCY7_ENST00000537579.1_Intron P51828 ADCY7_HUMAN adenylate cyclase 7 456 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CATCGACCCCCGGGTACGAGG 0.682000 4 5 0 0 1 0 0 DCTPP1 79077 broad.mit.edu 37 16 30440456 30440456 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:30440456C>T ENST00000319285.4 - 2 228 c.134G>A c.(133-135)cGa>cAa p.R45Q ZNF771_ENST00000566625.1_3'UTR|DCTPP1_ENST00000568434.1_5'UTR|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000568973.1_5'UTR|DCTPP1_ENST00000567983.1_Intron NM_024096.1 NP_077001.1 Q9H773 DCTP1_HUMAN dCTP pyrophosphatase 1 45 nucleoside triphosphate catabolic process cytosol dCTP diphosphatase activity|identical protein binding|magnesium ion binding kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1) 5 TTCCCAGTCTCGTTCCGCAGC 0.567000 21 53 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144995411 144995411 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144995411C>T ENST00000322810.4 - 32 9158 c.8989G>A c.(8989-8991)Gag>Aag p.E2997K PLEC_ENST00000398774.2_Missense_Mutation_p.E2828K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2860K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2883K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2864K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2838K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2860K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2846K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2887K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2997 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTGAGGTTCTCGTGCGTGTTG 0.657000 45 81 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127685049 127685049 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:127685049A>G ENST00000508053.1 - 29 3953 c.2979T>C c.(2977-2979)cgT>cgC p.R993R FBN2_ENST00000508989.1_Silent_p.R960R|FBN2_ENST00000262464.4_Silent_p.R993R P35556 FBN2_HUMAN fibrillin 2 993 EGF-like 14; 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) CCAAACATACACGGCCAGTCC 0.453000 8 6 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29245089 29245089 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:29245089C>T ENST00000379558.4 + 11 1777 c.1426C>T c.(1426-1428)Ctt>Ttt p.L476F FAM179A_ENST00000403861.2_Missense_Mutation_p.L421F|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 476 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGAGATGGATCTTAGAGCCTG 0.542000 29 59 0 0 1 0 0 KDELR3 11015 broad.mit.edu 37 22 38875600 38875600 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:38875600G>A ENST00000216014.4 + 3 367 c.195G>A c.(193-195)gtG>gtA p.V65V KDELR3_ENST00000409006.3_Silent_p.V65V|KDELR3_ENST00000471268.1_3'UTR NM_006855.2 NP_006846.1 O43731 ERD23_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 65 protein retention in ER lumen|protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane ER retention sequence binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 Melanoma(58;0.0286) CCTTTTAGGTGGTTTTTCTCC 0.438000 59 47 0 0 1 0 0 PELO 53918 broad.mit.edu 37 5 52096666 52096666 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:52096666C>T ENST00000274311.2 + 2 1423 c.438C>T c.(436-438)ctC>ctT p.L146L ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 146 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) AGGAAGGCCTCGCCCATATCT 0.582000 21 24 0 0 1 0 0 RCN3 57333 broad.mit.edu 37 19 50046469 50046469 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:50046469G>A ENST00000270645.3 + 7 1433 c.986G>A c.(985-987)tGa>tAa p.*329* NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 0 endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) GATGAGCTGTGAGCACCGCGC 0.652000 8 10 0 0 1 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134464 21134464 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:21134464G>A ENST00000215727.5 + 2 1147 c.864G>A c.(862-864)atG>atA p.M288I SERPIND1_ENST00000406799.1_Missense_Mutation_p.M288I|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 288 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CCCAGATGATGATTCTCAACT 0.423000 70 217 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13057683 13057683 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:13057683G>A ENST00000506447.1 + 20 4288 c.4208G>A c.(4207-4209)tGg>tAg p.W1403* CEP192_ENST00000430049.2_Nonsense_Mutation_p.W928*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.W807* NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 998 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ACTGACCGCTGGCTGCAAGTC 0.498000 14 33 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2604800 2604800 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:2604800C>T ENST00000570628.2 - 6 750 c.645G>A c.(643-645)ctG>ctA p.L215L CLUH_ENST00000435359.1_Silent_p.L215L|CLUH_ENST00000538975.1_Silent_p.L215L clustered mitochondria (cluA/CLU1) homolog TGAGTACTTTCAGGCACTGCA 0.662000 10 7 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56637606 56637606 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:56637606C>T ENST00000267116.7 - 27 3064 c.2943G>A c.(2941-2943)ctG>ctA p.L981L ANKRD52_ENST00000548241.1_5'UTR NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 981 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 CCCCATGACTCAGCAGGGCCT 0.567000 4 0 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71119661 71119661 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:71119661G>A ENST00000448642.2 + 8 729 c.340G>A c.(340-342)Gat>Aat p.D114N HK1_ENST00000359426.6_Missense_Mutation_p.D79N|HK1_ENST00000298649.3_Missense_Mutation_p.D78N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.D67N|HK1_ENST00000404387.2_Missense_Mutation_p.D83N P19367 HXK1_HUMAN hexokinase 1 79 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 AGAAAAGGGAGATTTCATTGC 0.483000 32 53 0 0 1 0 0 BIVM 54841 broad.mit.edu 37 13 103468829 103468829 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:103468829G>A ENST00000257336.1 + 4 1209 c.530G>A c.(529-531)aGa>aAa p.R177K BIVM_ENST00000448849.2_5'UTR|BIVM-ERCC5_ENST00000602836.1_Silent_p.K148K|BIVM_ENST00000419638.1_Missense_Mutation_p.R177K NM_017693.3 NP_060163.2 basic, immunoglobulin-like variable motif containing endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1) 25 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAAAAGGGAAGATATCAGAAG 0.328000 21 30 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74684374 74684374 + Missense_Mutation SNP G G A rs139078371 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:74684374G>A ENST00000334011.5 + 7 1557 c.1339G>A c.(1339-1341)Gtc>Atc p.V447I NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 447 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GATCGACGAGGTCCTGAAATA 0.552000 14 34 0 0 1 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139107066 139107066 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:139107066C>T ENST00000354926.4 + 10 1513 c.1159C>T c.(1159-1161)Cgc>Tgc p.R387C C7orf55-LUC7L2_ENST00000482860.1_3'UTR|LUC7L2_ENST00000541515.3_Missense_Mutation_p.R453C|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.R384C|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.R386C NM_001270643.1|NM_016019.4 NP_001257572.1|NP_057103.2 CTCTGAAGAGCGCGAAGCAGG 0.468000 22 73 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65759415 65759415 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:65759415G>A ENST00000341861.5 - 13 3311 c.1731C>T c.(1729-1731)atC>atT p.I577I DPP8_ENST00000559233.1_Silent_p.I577I|DPP8_ENST00000321147.6_Silent_p.I577I|DPP8_ENST00000358939.4_Silent_p.I561I|DPP8_ENST00000339244.5_Silent_p.I404I|DPP8_ENST00000300141.6_Silent_p.I561I|DPP8_ENST00000321118.7_Silent_p.I577I NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 577 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ATACCTGACTGATGCAGCAAG 0.408000 12 11 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95419768 95419768 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:95419768C>T ENST00000336148.5 - 5 804 c.680G>A c.(679-681)tGt>tAt p.C227Y NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GTTAGAGAAACATTTCCTGGC 0.428000 Direct reversal of damage;Homologous recombination 27 53 0 0 1 0 0 MCCC1 56922 broad.mit.edu 37 3 182804570 182804570 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:182804570C>T ENST00000265594.4 - 4 426 c.280G>A c.(280-282)Gaa>Aaa p.E94K MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_5'UTR NM_020166.3 NP_064551.3 Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 94 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) GAATATGCTTCATCTGCCTGT 0.438000 6 5 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98187148 98187148 + Missense_Mutation SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:98187148T>A ENST00000370192.3 - 5 501 c.401A>T c.(400-402)gAt>gTt p.D134V DPYD_ENST00000423006.2_Missense_Mutation_p.D97V|DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.D134V NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 134 '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) TACACAAAGATCAGAGGTTGG 0.383000 12 61 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588651 247588651 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:247588651G>A ENST00000366497.2 + 4 2686 c.1906G>A c.(1906-1908)Gag>Aag p.E636K NLRP3_ENST00000348069.2_Missense_Mutation_p.E636K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E636K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E636K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E636K|NLRP3_ENST00000336119.3_Missense_Mutation_p.E636K NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 636 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTGTTTGTACGAGATGCAGGA 0.478000 20 30 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15562865 15562865 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:15562865C>T ENST00000343625.7 - 17 2968 c.2883G>A c.(2881-2883)ctG>ctA p.L961L NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CCAGGTTTTTCAGACTGTGCC 0.577000 25 45 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48749802 48749802 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:48749802C>T ENST00000314191.2 - 58 7785 c.7729G>A c.(7729-7731)Gag>Aag p.E2577K PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2577K NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2578 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) AGAGGATGCTCGAACATGGGG 0.373000 Non-homologous end-joining 6 16 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135781455 135781455 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:135781455C>T ENST00000298552.3 - 15 1731 c.1510G>A c.(1510-1512)Gac>Aac p.D504N TSC1_ENST00000440111.2_Missense_Mutation_p.D504N|TSC1_ENST00000545250.1_Missense_Mutation_p.D453N NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 504 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) AAGGGAGAGTCAAAGCCTCCT 0.532000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 11 23 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50213550 50213550 + RNA SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:50213550G>A ENST00000376025.2 - 0 187 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GAgcagcggcggagccggcgg 0.697000 20 9 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36214671 36214671 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:36214671G>A ENST00000222270.7 + 8 3097 c.3097G>A c.(3097-3099)Gat>Aat p.D1033N KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.D1033N NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B CTGGGATTCCGATGAATCTCC 0.672000 5 8 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148523641 148523641 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:148523641G>T ENST00000320356.2 - 8 933 c.812C>A c.(811-813)tCt>tAt p.S271Y EZH2_ENST00000476773.1_Missense_Mutation_p.S262Y|EZH2_ENST00000541220.1_Missense_Mutation_p.S262Y|EZH2_ENST00000483967.1_Missense_Mutation_p.S262Y|EZH2_ENST00000350995.2_Missense_Mutation_p.S232Y|EZH2_ENST00000460911.1_Missense_Mutation_p.S271Y|EZH2_ENST00000536783.1_Missense_Mutation_p.S162Y|EZH2_ENST00000478654.1_Missense_Mutation_p.S262Y NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 271 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TCTCTGAACAGATTTAGCATT 0.423000 Mis DLBCL 15 37 6.72482e-11 6.94626e-11 1 1 0 HLA-C 3107 broad.mit.edu 37 6 31239458 31239458 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:31239458C>T ENST00000383329.3 - 2 275 c.261G>A c.(259-261)gaG>gaA p.E87E HLA-C_ENST00000376228.5_Silent_p.E87E Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 87 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 ACTTCTGTGTCTCCCGGTCCC 0.687000 16 14 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192516517 192516517 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:192516517G>A ENST00000392452.2 - 2 1454 c.1134C>T c.(1132-1134)ttC>ttT p.F378F NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 378 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 ACTGAGGGATGAAATAATTGG 0.532000 19 46 0 0 1 0 0 TRAV29DV5 28653 broad.mit.edu 37 14 22631672 22631672 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:22631672C>T ENST00000390458.3 + 0 375 ATGGAAGATTCACTGTCTTCT 0.423000 OREG0022575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 17 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33308756 33308756 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:33308756C>T ENST00000303296.4 + 2 1101 c.796C>T c.(796-798)Cag>Tag p.Q266* HIPK3_ENST00000379016.3_Nonsense_Mutation_p.Q266*|HIPK3_ENST00000525975.1_Nonsense_Mutation_p.Q266*|HIPK3_ENST00000456517.1_Nonsense_Mutation_p.Q266* NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 266 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 TGAATGCTTTCAGCACCGTAA 0.368000 6 87 0 0 1 0 0 MAPRE2 10982 broad.mit.edu 37 18 32682030 32682030 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:32682030C>T ENST00000436190.2 + 5 755 c.481C>T c.(481-483)Cga>Tga p.R161* MAPRE2_ENST00000589699.1_Nonsense_Mutation_p.R130*|MAPRE2_ENST00000300249.5_Nonsense_Mutation_p.R173*|MAPRE2_ENST00000538170.2_Nonsense_Mutation_p.R120*|MAPRE2_ENST00000588910.1_Nonsense_Mutation_p.R173*|MAPRE2_ENST00000413393.1_Nonsense_Mutation_p.R130* NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 173 cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 TGTAGAGGCACGACAAGGGCA 0.453000 18 14 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228107 39228107 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:39228107G>A ENST00000340369.3 - 2 3058 c.2830C>T c.(2830-2832)Ctg>Ttg p.L944L XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L944L NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 944 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCCCACCGCAGACTGTGCAGG 0.637000 39 14 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17746218 17746218 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:17746218C>G ENST00000380060.3 + 6 4267 c.3929C>G c.(3928-3930)aCt>aGt p.T1310S NHS_ENST00000398097.3_Missense_Mutation_p.T1154S NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1310 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GACTCACCAACTAGAGCAACA 0.443000 49 20 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109369565 109369565 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:109369565C>T ENST00000283195.6 + 13 1993 c.1867C>T c.(1867-1869)Cct>Tct p.P623S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 623 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAACAGTATTCCTGAACCTAT 0.308000 32 74 0 0 1 0 0 MAFK 7975 broad.mit.edu 37 7 1579901 1579901 + Missense_Mutation SNP G G A rs143840628 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:1579901G>A ENST00000343242.4 + 3 590 c.361G>A c.(361-363)Gtg>Atg p.V121M NM_002360.3 NP_002351.1 O60675 MAFK_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K 121 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15) CGCGCGCACCGTGGCCCGGGG 0.682000 3 7 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156784856 156784856 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:156784856G>C ENST00000537611.2 - 2 137 c.91C>G c.(91-93)Ccc>Gcc p.P31A TDO2_ENST00000506181.1_Intron NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 31 integral to membrane|plasma membrane CGCTCAGTGGGAGATGGCAGT 0.388000 52 47 0 0 1 0 0 TMC6 11322 broad.mit.edu 37 17 76115385 76115385 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:76115385G>A ENST00000590602.1 - 14 1963 c.1804C>T c.(1804-1806)Ctg>Ttg p.L602L TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.L181L|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Silent_p.L602L|TMC6_ENST00000591436.1_Silent_p.L181L|TMC6_ENST00000392467.3_Silent_p.L602L Q7Z403 TMC6_HUMAN transmembrane channel-like 6 602 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CACCAGGTCAGAGTCTGCCCA 0.622000 33 46 0 0 1 0 0 ALKBH8 91801 broad.mit.edu 37 11 107427575 107427575 + Missense_Mutation SNP C C T rs150490382 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:107427575C>T ENST00000428149.2 - 3 435 c.284G>A c.(283-285)aGa>aAa p.R95K ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Missense_Mutation_p.R95K|ALKBH8_ENST00000417449.2_Missense_Mutation_p.R98K|ALKBH8_ENST00000429370.1_Missense_Mutation_p.R95K NM_138775.2 NP_620130.2 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 (E. coli) 95 RRM. response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) AACATAGGCTCTCTTAGATTC 0.378000 20 32 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150817139 150817139 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:150817139C>T ENST00000397238.2 + 8 1035 c.1035C>T c.(1033-1035)atC>atT p.I345I AGAP3_ENST00000473312.1_Silent_p.I345I|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Silent_p.I525I|AGAP3_ENST00000463381.1_Silent_p.I117I NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 309 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 CCCCCAGCATCAGCCAGCGGG 0.652000 18 12 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673207 186673207 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:186673207G>A ENST00000343098.5 + 17 19441 c.19441G>A c.(19441-19443)Gaa>Aaa p.E6481K FSIP2_ENST00000424728.1_Missense_Mutation_p.E6392K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GGTAACAGCTGAAATTTCCAG 0.343000 26 28 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202631985 202631985 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:202631985G>A ENST00000264276.6 - 3 514 c.142C>T c.(142-144)Ctc>Ttc p.L48F ALS2_ENST00000467448.1_Missense_Mutation_p.L48F|ALS2_ENST00000496244.1_5'UTR NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 48 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TTCACTCCGAGGGCTGCCTGC 0.488000 14 31 0 0 1 0 0 MRPL41 64975 broad.mit.edu 37 9 140446839 140446839 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:140446839G>A ENST00000371443.5 + 2 1094 c.306G>A c.(304-306)aaG>aaA p.K102K NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 102 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) CCATCGAAAAGGACTTCAAGG 0.612000 13 18 0 0 1 0 0 TRAV4 28689 broad.mit.edu 37 14 22205041 22205041 + RNA SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:22205041G>A ENST00000390426.2 + 0 172 GACAAGAAGTGAACATAACCT 0.438000 27 18 0 0 1 0 0 SNCB 6620 broad.mit.edu 37 5 176053748 176053748 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:176053748C>T ENST00000310112.3 - 4 386 c.136G>A c.(136-138)Gaa>Aaa p.E46K SNCB_ENST00000393693.2_Missense_Mutation_p.E46K|SNCB_ENST00000510387.1_Missense_Mutation_p.E46K|SNCB_ENST00000506696.1_Missense_Mutation_p.E46K NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 46 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|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) ACCACACCTTCTCGGGTCTTG 0.577000 31 22 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:20523043G>A ENST00000359062.3 + 1 865 c.825G>A c.(823-825)ctG>ctA p.L275L RP11-284H19.1_ENST00000535755.1_RNA NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 275 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding p.L275L(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTCCCAGCTGATTGCTGGGA 0.627000 17 29 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131392643 131392643 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:131392643G>A ENST00000372739.3 + 52 6861 c.6751G>A c.(6751-6753)Gaa>Aaa p.E2251K SPTAN1_ENST00000372731.4_Missense_Mutation_p.E2246K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2251K NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2246 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 ATCCCAGCTTGAAGCTACCAA 0.607000 22 33 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846157 123846157 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:123846157C>T ENST00000369005.1 + 4 4482 c.4142C>T c.(4141-4143)tCc>tTc p.S1381F TACC2_ENST00000515603.1_Missense_Mutation_p.S1381F|TACC2_ENST00000334433.3_Missense_Mutation_p.S1381F|TACC2_ENST00000453444.2_Missense_Mutation_p.S1381F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S1381F NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1381 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGAGAGCCTTCCCAGGACCCA 0.612000 18 32 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59888694 59888694 + Silent SNP T T G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:59888694T>G ENST00000256858.6 + 5 1070 c.822T>G c.(820-822)ctT>ctG p.L274L KIAA1468_ENST00000398130.2_Silent_p.L274L Q9P260 K1468_HUMAN KIAA1468 274 LisH. binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) ACTATAAGCTTACATCAATAA 0.294000 30 17 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11533473 11533473 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:11533473G>A ENST00000356392.4 - 9 1260 c.1173C>T c.(1171-1173)ctC>ctT p.L391L CCDC151_ENST00000591179.1_Silent_p.L331L|CCDC151_ENST00000545100.1_Silent_p.L337L|CCDC151_ENST00000586836.1_Silent_p.L200L NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 391 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 TCTCGCTCTTGAGCGTCTCCA 0.657000 11 7 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13411423 13411423 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:13411423C>T ENST00000360228.5 - 18 2219 c.2220G>A c.(2218-2220)caG>caA p.Q740Q CACNA1A_ENST00000573710.2_Silent_p.Q741Q 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 741 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) CCTTGGCTTTCTGTAGGGCAA 0.522000 5 66 0 0 1 0 0 STK35 140901 broad.mit.edu 37 20 2083843 2083843 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:2083843G>A ENST00000381482.3 + 2 995 c.724G>A c.(724-726)Gag>Aag p.E242K STK35_ENST00000246032.3_Missense_Mutation_p.E109K|STK35_ENST00000400064.3_Missense_Mutation_p.E70K Q8TDR2 STK35_HUMAN serine/threonine kinase 35 242 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2) 13 CGAGAACGTGGAGCTGGCGCT 0.682000 5 11 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31864542 31864542 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:31864542C>T ENST00000395728.3 - 2 339 c.340G>A c.(340-342)Gac>Aac p.D114N EHMT2_ENST00000375537.4_Missense_Mutation_p.D57N|EHMT2_ENST00000375530.4_Missense_Mutation_p.D57N|EHMT2_ENST00000375528.4_Missense_Mutation_p.D114N Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 57 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCCAGGGAGTCGGGGGTGGCC 0.582000 30 21 0 0 1 0 0 RDH10 157506 broad.mit.edu 37 8 74231361 74231361 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:74231361G>C ENST00000240285.5 + 3 1234 c.556G>C c.(556-558)Gag>Cag p.E186Q RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.E21Q|RP11-434I12.2_ENST00000517475.1_RNA NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 186 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TACGATGCTGGAGATTAATCA 0.383000 45 78 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938996 14938996 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:14938996C>T ENST00000322301.3 - 2 145 c.58G>A c.(58-60)Gaa>Aaa p.E20K OR7A5_ENST00000594432.1_Missense_Mutation_p.E20K|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 AGTCCAGGTTCTTGTGAAAAT 0.458000 24 20 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68592492 68592492 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:68592492A>G ENST00000234313.7 + 1 188 c.9A>G c.(7-9)ccA>ccG p.P3P AC015969.3_ENST00000366218.2_RNA NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 3 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GCATGGAACCAAAGCGGATCA 0.597000 32 47 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147449958 147449958 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:147449958C>G ENST00000359874.3 + 3 227 c.154C>G c.(154-156)Caa>Gaa p.Q52E SPINK5_ENST00000256084.7_Missense_Mutation_p.Q52E|SPINK5_ENST00000398454.1_Missense_Mutation_p.Q52E NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 52 Kazal-like 1; atypical. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAATTTTTTCAAAGTCTTGA 0.328000 28 22 0 0 1 0 0 DUSP16 80824 broad.mit.edu 37 12 12630261 12630261 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:12630261G>C ENST00000228862.2 - 7 2135 c.1504C>G c.(1504-1506)Cca>Gca p.P502A DUSP16_ENST00000298573.4_3'UTR NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 502 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CGATGCAGTGGAGATAAAAGG 0.587000 37 58 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106633728 106633728 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:106633728C>T ENST00000378026.4 - 2 1019 c.883G>A c.(883-885)Gag>Aag p.E295K CKAP4_ENST00000552828.1_5'UTR NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 295 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 GTCTGTATCTCCTTCACAGCT 0.517000 35 86 0 0 1 0 0 CREB3L4 148327 broad.mit.edu 37 1 153941087 153941087 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:153941087G>A ENST00000368607.3 + 2 352 c.86G>A c.(85-87)gGa>gAa p.G29E CREB3L4_ENST00000368600.3_Missense_Mutation_p.G29E|CREB3L4_ENST00000368603.1_Missense_Mutation_p.G29E|CREB3L4_ENST00000271889.4_Missense_Mutation_p.G29E|CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.G29E NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 29 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGGAGCTGGGACTCCACTGC 0.617000 30 39 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74093986 74093986 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:74093986G>A ENST00000607838.1 - 5 625 c.531C>T c.(529-531)gaC>gaT p.D177D EXOC7_ENST00000332065.5_Silent_p.D177D|EXOC7_ENST00000405575.4_Silent_p.D177D|EXOC7_ENST00000411744.2_Silent_p.D177D|EXOC7_ENST00000335146.7_Silent_p.D177D|EXOC7_ENST00000467929.2_Silent_p.D136D|EXOC7_ENST00000589210.1_Silent_p.D177D NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 177 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) CCAGATCATCGTCACCACTGA 0.617000 34 77 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1932436 1932436 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:1932436G>A ENST00000503128.1 + 6 1701 c.1494G>A c.(1492-1494)caG>caA p.Q498Q WHSC1_ENST00000514045.1_Silent_p.Q498Q|WHSC1_ENST00000382895.3_Silent_p.Q498Q|WHSC1_ENST00000420906.2_Silent_p.Q498Q|WHSC1_ENST00000382892.2_Silent_p.Q498Q|WHSC1_ENST00000382891.5_Silent_p.Q498Q|WHSC1_ENST00000398261.1_Silent_p.Q498Q|WHSC1_ENST00000508803.1_Silent_p.Q498Q O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 498 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GTGAGAAGCAGAGAGCACGCT 0.537000 T IGH@ MM 17 28 0 0 1 0 0 IGLC2 3538 broad.mit.edu 37 22 23243367 23243367 + RNA SNP T T C rs8033 by1000genomes TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:23243367T>C ENST00000390323.2 + 0 212 CCAGCAGCTATCTGAGCCTGA 0.587000 4 36 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244218534 244218534 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:244218534G>A ENST00000358704.4 + 2 1607 c.1458G>A c.(1456-1458)caG>caA p.Q486Q NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 GGTTCACGCAGTCCGGGGACC 0.587000 14 42 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73444931 73444931 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:73444931C>T ENST00000556143.1 - 7 2151 c.1431G>A c.(1429-1431)gaG>gaA p.E477E ZFYVE1_ENST00000555072.1_Silent_p.E62E|ZFYVE1_ENST00000553891.1_Silent_p.E477E|ZFYVE1_ENST00000318876.5_Silent_p.E477E|ZFYVE1_ENST00000394207.2_Silent_p.E62E|ZFYVE1_ENST00000554145.1_Intron NM_001281735.1|NM_021260.2 NP_001268664.1|NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 477 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CCTCGCCTCTCTCATAGCAGG 0.463000 22 18 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47177528 47177528 + Missense_Mutation SNP G G A rs147914967 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:47177528G>A ENST00000319190.5 + 2 579 c.211G>A c.(211-213)Gag>Aag p.E71K TTC7A_ENST00000536057.1_Missense_Mutation_p.E71K|TTC7A_ENST00000394850.2_Missense_Mutation_p.E71K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E37K|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 71 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GCTGCTGGCTGAGGCCCTCCT 0.502000 64 96 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40557078 40557078 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:40557078C>T ENST00000357037.5 - 2 1219 c.800G>A c.(799-801)cGg>cAg p.R267Q NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 267 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CAGGGTGTGCCGCGTCTTCTC 0.607000 21 12 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1458977 1458977 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:1458977C>T ENST00000359801.3 - 3 763 c.727G>A c.(727-729)Gta>Ata p.V243I SIRPB2_ENST00000537284.1_Missense_Mutation_p.V105I|SIRPB2_ENST00000444444.2_Missense_Mutation_p.V145I NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 243 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGAAACTTTACACAGTAATAG 0.512000 24 48 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103142766 103142766 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:103142766C>T ENST00000295269.4 + 11 2456 c.1999C>T c.(1999-2001)Cag>Tag p.Q667* NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 667 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CGGGAATCCTCAGTCTGCAGG 0.507000 24 44 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7254567 7254567 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:7254567G>A ENST00000266542.4 - 3 509 c.417C>T c.(415-417)ttC>ttT p.F139F C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Silent_p.F139F|C1RL_ENST00000544702.1_Silent_p.F139F NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 139 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GCTGTGTGCGGAAGGTCAGCC 0.627000 50 76 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155316194 155316194 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:155316194C>G ENST00000368346.3 - 21 8524 c.7885G>C c.(7885-7887)Gac>Cac p.D2629H ASH1L_ENST00000392403.3_Missense_Mutation_p.D2624H|MIR555_ENST00000384987.1_RNA Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2629 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GGCCTTGGGTCACACTGCTCA 0.478000 39 51 0 0 1 0 0 DDI2 84301 broad.mit.edu 37 1 15978369 15978369 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:15978369C>G ENST00000480945.1 + 8 1333 c.1162C>G c.(1162-1164)Caa>Gaa p.Q388E NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 388 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AGAAGCCCTTCAAAAATCAGC 0.512000 13 16 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101109805 101109805 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:101109805C>G ENST00000314742.8 - 7 2134 c.1912G>C c.(1912-1914)Gaa>Caa p.E638Q NM_001040616.2 NP_001035706 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 638 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TCTGTGGATTCCACGTCAGAA 0.493000 40 24 0 0 1 0 0 OSR2 116039 broad.mit.edu 37 8 99961579 99961579 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:99961579G>C ENST00000297565.4 + 2 895 c.399G>C c.(397-399)atG>atC p.M133I OSR2_ENST00000522510.1_Missense_Mutation_p.M133I|OSR2_ENST00000435298.2_Missense_Mutation_p.M133I|OSR2_ENST00000457907.2_Missense_Mutation_p.M254I|OSR2_ENST00000523368.1_Missense_Mutation_p.M133I NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 133 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CGCCTAAGATGGGAGACCTGA 0.612000 48 103 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57173841 57173841 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:57173841C>T ENST00000504228.1 + 3 366 c.261C>T c.(259-261)atC>atT p.I87I KIAA1211_ENST00000264229.6_Silent_p.I87I|KIAA1211_ENST00000541073.1_Silent_p.I80I Q6ZU35 K1211_HUMAN KIAA1211 87 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AGCAGGACATCGTCCTCTCAG 0.517000 16 28 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32624002 32624002 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:32624002G>A ENST00000345122.3 + 7 4672 c.4357G>A c.(4357-4359)Gaa>Aaa p.E1453K ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E1452K|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.E192K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E1453K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E1452K|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.E188K NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1453 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTACAATGGAGAAATTGTAGA 0.418000 26 11 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36892168 36892168 + Silent SNP G G A rs113645261 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:36892168G>A ENST00000397224.4 - 7 1563 c.1470C>T c.(1468-1470)caC>caT p.H490H FOXRED2_ENST00000366463.3_Silent_p.H42H|FOXRED2_ENST00000216187.6_Silent_p.H490H|FOXRED2_ENST00000397223.4_Silent_p.H490H NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 490 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CGAAGAGCCCGTGCTTTGCCT 0.547000 4 52 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57870952 57870952 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:57870952G>A ENST00000393797.2 - 8 1262 c.1070C>T c.(1069-1071)cCg>cTg p.P357L ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P102L|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P286L|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P286L|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P286L|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P365L Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 286 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) TGGGTCAAGCGGTTCTGGGGT 0.522000 21 41 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121126442 121126442 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:121126442G>A ENST00000273666.6 + 24 3283 c.3012G>A c.(3010-3012)atG>atA p.M1004I STXBP5L_ENST00000497029.1_Missense_Mutation_p.M978I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.M980I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.M980I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.M1004I NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1004 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) GACATATCATGATAATGAGGT 0.373000 32 35 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19290767 19290767 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:19290767C>G ENST00000602925.1 + 5 1110 c.694C>G c.(694-696)Ctt>Gtt p.L232V DENND4C_ENST00000434457.2_Missense_Mutation_p.L232V|DENND4C_ENST00000380432.2_5'UTR NM_017925.5 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 0 DENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 AGATGTACCTCTTTTCTGCCT 0.363000 16 10 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139265753 139265753 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:139265753G>A ENST00000450536.2 - 5 1209 c.635C>T c.(634-636)tCt>tTt p.S212F REPS1_ENST00000409812.2_Missense_Mutation_p.S212F|REPS1_ENST00000258062.5_Missense_Mutation_p.S212F|REPS1_ENST00000415951.2_Missense_Mutation_p.S212F|REPS1_ENST00000367663.4_Missense_Mutation_p.S212F Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 212 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) ATCACCAGCAGAAGAACCTAT 0.428000 22 28 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158557520 158557520 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:158557520C>T ENST00000251527.5 - 9 1158 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 393 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TCCTGAGCTTCAATAAAATGT 0.428000 34 64 0 0 1 0 0 DLD 1738 broad.mit.edu 37 7 107531736 107531736 + Splice_Site SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:107531736T>A ENST00000205402.5 + 1 320 c.e1+2 DLD_ENST00000537148.1_Splice_Site|DLD_ENST00000440410.1_Splice_Site|DLD_ENST00000437604.2_Splice_Site NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) TTGGCCAAGGTGAGGGCCGAG 0.622000 12 21 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116594297 116594297 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:116594297A>G ENST00000410059.1 + 24 2637 c.2157A>G c.(2155-2157)atA>atG p.I719M DPP10_ENST00000310323.8_Missense_Mutation_p.I712M|DPP10_ENST00000393147.2_Missense_Mutation_p.I723M|DPP10_ENST00000409163.1_Missense_Mutation_p.I669M NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 719 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AAGAAAATATATTAATAATTC 0.333000 44 62 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 20 15 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171174530 171174530 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:171174530G>A ENST00000441535.1 + 7 1057 c.940G>A c.(940-942)Gag>Aag p.E314K RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.E314K|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 314 E -> G (in dbSNP:rs2020863). drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGCCATCTTTGAGGATGGAAC 0.413000 25 32 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72024481 72024481 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:72024481G>C ENST00000378743.3 - 18 3981 c.3623C>G c.(3622-3624)aCa>aGa p.T1208R NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1208 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCGGCTAAGTGTATAGTCTTG 0.318000 14 30 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 4277529 4277529 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:4277529A>G ENST00000602557.1 - 3 916 c.361T>C c.(361-363)Tgg>Cgg p.W121R CSMD1_ENST00000602723.1_Missense_Mutation_p.W121R|CSMD1_ENST00000542608.1_Missense_Mutation_p.W121R|CSMD1_ENST00000520002.1_Missense_Mutation_p.W121R|CSMD1_ENST00000400186.3_Missense_Mutation_p.W121R|CSMD1_ENST00000539096.1_Missense_Mutation_p.W121R|CSMD1_ENST00000537824.1_Missense_Mutation_p.W121R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 121 CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTCGTGAACCACAGAGTGAGG 0.413000 3 5 0 0 1 0 0 GSK3A 2931 broad.mit.edu 37 19 42744259 42744259 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:42744259G>A ENST00000398249.4 - 1 1786 c.73C>T c.(73-75)Cta>Tta p.L25L AC006486.9_ENST00000594664.1_Silent_p.L20L|GSK3A_ENST00000222330.3_Silent_p.L107L P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 107 Gly-rich. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) CCTTGGCCTAGAGTGGCTACG 0.587000 18 40 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2900171 2900171 + Silent SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:2900171C>G ENST00000355842.3 + 9 1760 c.897C>G c.(895-897)ctC>ctG p.L299L ADD1_ENST00000264758.7_Silent_p.L299L|ADD1_ENST00000398129.1_Silent_p.L299L|ADD1_ENST00000513328.2_Silent_p.L299L|ADD1_ENST00000398125.1_Silent_p.L299L|ADD1_ENST00000398123.2_Silent_p.L299L|ADD1_ENST00000446856.1_Silent_p.L299L|ADD1_ENST00000503455.2_Silent_p.L299L P35611 ADDA_HUMAN adducin 1 (alpha) 299 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTCTTATTCTCCGGAACCATG 0.493000 57 94 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90119460 90119460 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:90119460G>A ENST00000268138.7 + 1 748 c.643G>A c.(643-645)Gaa>Aaa p.E215K RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.E215K TOPBP1-interacting checkpoint and replication regulator GGATACCACCGAATGGTCTAA 0.542000 10 11 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55304265 55304265 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:55304265C>G ENST00000398661.2 - 9 1109 c.978G>C c.(976-978)ttG>ttC p.L326F HMGCLL1_ENST00000274901.4_Missense_Mutation_p.L296F|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.L264F|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.L130F|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.L193F NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 326 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GCATATATATCAAATCCTCAG 0.418000 30 22 0 0 1 0 0 REEP1 65055 broad.mit.edu 37 2 86459890 86459890 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:86459890G>A ENST00000541910.1 - 4 361 c.218C>T c.(217-219)tCa>tTa p.S73L REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000540790.1_Silent_p.F130F|REEP1_ENST00000538924.1_Silent_p.F158F|REEP1_ENST00000165698.5_Silent_p.F151F|REEP1_ENST00000535845.1_Silent_p.F124F NM_001164732.1 NP_001158204.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 0 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 CCTGCATGCTGAAGCTCCGCA 0.667000 13 18 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127961459 127961459 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:127961459G>C ENST00000223073.2 - 14 1537 c.1423C>G c.(1423-1425)Cag>Gag p.Q475E RBM28_ENST00000415472.2_Missense_Mutation_p.Q334E|RBM28_ENST00000481788.1_5'UTR NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TTGAGTTTCTGATGCTTCAGC 0.433000 15 30 0 0 1 0 0 GPR62 118442 broad.mit.edu 37 3 51990695 51990695 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:51990695G>A ENST00000322241.4 + 1 1366 c.1027G>A c.(1027-1029)Gag>Aag p.E343K NM_080865.3 NP_543141.3 Q9BZJ7 GPR62_HUMAN G protein-coupled receptor 62 343 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGCCCTTCTGAGGCTCCAGA 0.672000 22 10 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55882034 55882034 + Splice_Site SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:55882034C>T ENST00000447944.2 - 18 1582 c.e18+1 NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AATTCTTTTACCTGAATCCAT 0.413000 20 51 0 0 1 0 0 ACTL10 170487 broad.mit.edu 37 20 32255571 32255571 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:32255571G>A ENST00000330271.4 + 1 1268 c.268G>A c.(268-270)Gac>Aac p.D90N NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron NM_001024675.1 NP_001019846.1 Q5JWF8 CT134_HUMAN actin-like 10 90 CGTGTCCCTGGACTTCGAGGG 0.672000 14 18 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:137328351C>T ENST00000540193.1 + 9 1912 c.989C>T c.(988-990)tCc>tTc p.S330F RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607000 25 48 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607867 53607867 + Silent SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:53607867G>C ENST00000425354.2 - 7 1276 c.789C>G c.(787-789)ctC>ctG p.L263L RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000338561.5_Silent_p.L252L NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 263 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AGGCAGCTTTGAGCAGAGTGA 0.532000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 136 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148930407 148930407 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:148930407C>T ENST00000261798.5 - 1 553 c.121G>A c.(121-123)Gag>Aag p.E41K CSNK1A1_ENST00000515768.1_Missense_Mutation_p.E41K|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.E41K|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.E41K NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 41 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity p.E41*(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) ATGATTACCTCGCCGTTGGTG 0.547000 25 17 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27536750 27536750 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:27536750C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA AATTTGTTACCTAGAAGGCTG 0.348000 4 9 0 0 1 0 0 ICT1 3396 broad.mit.edu 37 17 73016475 73016475 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:73016475G>A ENST00000301585.5 + 4 364 c.351G>A c.(349-351)caG>caA p.Q117Q NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 117 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) CCGTGCGGCAGAAGATAGCCA 0.507000 20 29 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9580108 9580108 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:9580108C>T ENST00000285199.7 + 5 975 c.879C>T c.(877-879)ttC>ttT p.F293F USP43_ENST00000570475.1_Silent_p.F293F|USP43_ENST00000570827.2_3'UTR NM_001267576.1|NM_153210.4 NP_001254505.1|NP_694942.3 Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GCCAGCGGTTCCTGCGGGTTG 0.557000 8 4 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155410 155410 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:155410C>T ENST00000510175.1 + 0 845 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AAACCCTTCTCATGCGAAGAA 0.388000 10 17 0 0 1 0 0 SMUG1 23583 broad.mit.edu 37 12 54576210 54576210 + Silent SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:54576210G>C ENST00000508394.2 - 3 545 c.483C>G c.(481-483)gtC>gtG p.V161V SMUG1_ENST00000401977.2_Silent_p.V161V|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Silent_p.V161V|SMUG1_ENST00000505128.1_3'UTR NM_001243787.1|NM_001243788.1|NM_014311.2 NP_001230716.1|NP_001230717.1|NP_055126.1 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional uracil-DNA glycosylase 1 161 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 ATAGATTGTGGACAAAACAGT 0.562000 Base excision repair (BER), DNA glycosylases 34 74 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144996723 144996723 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144996723C>G ENST00000322810.4 - 31 7954 c.7785G>C c.(7783-7785)gaG>gaC p.E2595D PLEC_ENST00000398774.2_Missense_Mutation_p.E2426D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2458D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2481D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2462D|PLEC_ENST00000354958.2_Missense_Mutation_p.E2436D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2458D|PLEC_ENST00000356346.3_Missense_Mutation_p.E2444D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2485D NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2595 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCTTCTCCTTCTCACGCTCCA 0.637000 9 19 0 0 1 0 0 OR1D4 653166 broad.mit.edu 37 17 3144083 3144083 + RNA SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:3144083G>A ENST00000531680.1 + 0 114 NR_033795.1 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) ACCTGGTCACGGTGCTGGGAA 0.537000 22 24 0 0 1 0 0 C16orf86 388284 broad.mit.edu 37 16 67702120 67702120 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:67702120C>T ENST00000403458.4 + 4 726 c.571C>T c.(571-573)Cgg>Tgg p.R191W NM_001012984.2 NP_001013002.2 Q6ZW13 CP086_HUMAN chromosome 16 open reading frame 86 191 endometrium(2)|lung(4) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCAGCGCCTGCGGCCGCTGTA 0.657000 OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 10 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16358726 16358726 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:16358726G>A ENST00000375692.1 + 18 1913 c.1785G>A c.(1783-1785)caG>caA p.Q595Q CLCNKA_ENST00000331433.4_Silent_p.Q595Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.Q595Q|CLCNKA_ENST00000439316.2_Silent_p.Q552Q P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 595 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GCATCGTGCAGAGGGCCCAGC 0.642000 15 33 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345823 92345823 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:92345823C>G ENST00000377067.3 + 3 1080 c.708C>G c.(706-708)atC>atG p.I236M NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 236 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TTGAAGTCATCAACACCACAG 0.532000 24 40 0 0 1 0 0 SEPT3 55964 broad.mit.edu 37 22 42392933 42392933 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:42392933C>T ENST00000396426.3 + 11 1294 c.1039C>T c.(1039-1041)Cca>Tca p.P347S SEPT3_ENST00000406029.1_Missense_Mutation_p.P283S|SEPT3_ENST00000396425.3_3'UTR|SEPT3_ENST00000328414.8_3'UTR NM_145733.2 NP_663786.2 Q9UH03 SEPT3_HUMAN septin 3 347 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 CACTGTCCTTCCACCTGTGCC 0.577000 46 30 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109805873 109805873 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:109805873C>T ENST00000271332.3 + 8 4879 c.4818C>T c.(4816-4818)ggC>ggT p.G1606G NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1606 EGF-like 4; calcium-binding. 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) GCTTTGGGGGCAAGAGCTGCG 0.637000 8 26 0 0 1 0 0 PNKD 25953 broad.mit.edu 37 2 219137299 219137299 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:219137299C>T ENST00000248451.3 + 3 387 c.243C>T c.(241-243)atC>atT p.I81I PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron NM_001077399.2 NP_001070867.1 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 0 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTAGGGCCATCGGCTTCCCTT 0.587000 OREG0015199 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 26 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48517101 48517101 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:48517101C>T ENST00000358350.4 - 56 8485 c.7881G>A c.(7879-7881)ctG>ctA p.L2627L FRYL_ENST00000264319.7_Silent_p.L23L|FRYL_ENST00000503238.1_Silent_p.L2627L|FRYL_ENST00000537810.1_Silent_p.L2627L|FRYL_ENST00000507873.2_Silent_p.L23L NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2627 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTAGCTCTTTCAGAGCTAAGG 0.428000 38 69 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36762187 36762187 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:36762187G>A ENST00000354618.5 + 9 2343 c.2119G>A c.(2119-2121)Gag>Aag p.E707K THRAP3_ENST00000469141.2_Missense_Mutation_p.E707K NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 707 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTGATAGGCTGAGGGAAAATA 0.408000 T USP6 aneurysmal bone cysts 27 15 0 0 1 0 0 DBF4 10926 broad.mit.edu 37 7 87533643 87533643 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:87533643A>G ENST00000265728.1 + 11 1465 c.961A>G c.(961-963)Agt>Ggt p.S321G NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 321 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) CTTTGCACAGAGTAACCAGTA 0.284000 26 26 0 0 1 0 0 ZNF263 10127 broad.mit.edu 37 16 3340089 3340089 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:3340089C>T ENST00000219069.5 + 6 2459 c.1583C>T c.(1582-1584)tCt>tTt p.S528F ZNF263_ENST00000538765.1_Missense_Mutation_p.S176F NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 528 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 AAAAGTTTCTCTCGGAGTTCA 0.507000 10 34 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64119604 64119604 + Silent SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:64119604C>G ENST00000356786.5 + 19 3146 c.3102C>G c.(3100-3102)gcC>gcG p.A1034A CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.A186A NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1034 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CATCCTAGGCCGAGAAGTCTG 0.667000 16 20 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2209868 2209868 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:2209868G>A ENST00000511885.2 - 5 913 c.560C>T c.(559-561)tCt>tTt p.S187F POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.S187F Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 187 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TGAGTTCCCAGAATTTAGGTA 0.368000 DNA polymerases (catalytic subunits) 33 54 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434263 42434263 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:42434263G>A ENST00000397272.3 - 20 2566 c.2475C>T c.(2473-2475)gtC>gtT p.V825V PLA2G4F_ENST00000382396.4_Silent_p.V823V NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 823 PLA2c. 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) CGTTGTTCAGGACGTTGTATC 0.597000 25 13 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095044 167095044 + Missense_Mutation SNP G G A rs144186156 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:167095044G>A ENST00000361200.2 + 6 842 c.676G>A c.(676-678)Gaa>Aaa p.E226K DUSP27_ENST00000443333.1_Missense_Mutation_p.E226K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E226K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 226 Tyrosine-protein phosphatase. 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 GGTCAGCAGCGAAATGGGCAT 0.478000 26 42 0 0 1 0 0 SCN1B 6324 broad.mit.edu 37 19 35524891 35524891 + Silent SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:35524891C>G ENST00000415950.3 + 3 696 c.696C>G c.(694-696)ctC>ctG p.L232L SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000262631.5_Intron NM_199037.3 NP_950238.1 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta subunit 0 axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) gaacccagctctgtcacctgt 0.592000 3 4 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7182305 7182305 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:7182305G>A ENST00000379938.2 + 4 698 c.161G>A c.(160-162)aGa>aAa p.R54K RREB1_ENST00000379933.3_Missense_Mutation_p.R54K|RREB1_ENST00000334984.6_Missense_Mutation_p.R54K|RREB1_ENST00000349384.6_Missense_Mutation_p.R54K NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 54 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CGGATTGGCAGAAGGAACCAG 0.527000 23 15 0 0 1 0 0 ZRANB2 9406 broad.mit.edu 37 1 71544365 71544365 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:71544365C>T ENST00000370920.3 - 2 384 c.83G>A c.(82-84)aGa>aAa p.R28K ZRANB2_ENST00000254821.6_Missense_Mutation_p.R28K NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 28 mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 ACAGCTGGTTCTTCTAGCAAA 0.274000 31 64 0 0 1 0 0 C4orf33 132321 broad.mit.edu 37 4 130023826 130023826 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:130023826A>G ENST00000281146.5 + 2 782 c.61A>G c.(61-63)Atc>Gtc p.I21V C4orf33_ENST00000425929.1_Missense_Mutation_p.I21V|C4orf33_ENST00000502887.1_Missense_Mutation_p.I21V NM_173487.2 NP_775758.2 Q8N1A6 CD033_HUMAN chromosome 4 open reading frame 33 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GCCCGTATTTATCAGGCTGAA 0.408000 33 80 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772144 99772144 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:99772144G>C ENST00000370185.3 + 7 2367 c.1870G>C c.(1870-1872)Gag>Cag p.E624Q LPPR4_ENST00000370184.1_Missense_Mutation_p.E466Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.E566Q NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 624 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGTGAGGGTTGAGGCTCACCC 0.562000 20 37 0 0 1 0 0 MTFR1L 56181 broad.mit.edu 37 1 26153217 26153217 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:26153217G>A ENST00000466284.1 + 4 1933 c.351G>A c.(349-351)ctG>ctA p.L117L MTFR1L_ENST00000524618.1_Silent_p.L20L|MTFR1L_ENST00000474295.1_Silent_p.L117L|MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000374307.5_Silent_p.L117L|MTFR1L_ENST00000374300.3_Silent_p.L117L|MTFR1L_ENST00000374303.2_Silent_p.L117L|MTFR1L_ENST00000526894.1_Silent_p.L117L|MTFR1L_ENST00000374301.3_Silent_p.L117L mitochondrial fission regulator 1-like TTCTGGCCCTGAAGAAGCCAG 0.607000 33 60 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96012152 96012152 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:96012152C>G ENST00000371380.3 + 8 3411 c.3176C>G c.(3175-3177)cCc>cGc p.P1059R PLCE1_ENST00000260766.3_Missense_Mutation_p.P1059R|PLCE1_ENST00000371375.1_Missense_Mutation_p.P751R|PLCE1_ENST00000371385.3_Missense_Mutation_p.P751R Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GCTCGAAACCCCAGCCCCGGA 0.507000 14 44 0 0 1 0 0 ATL3 25923 broad.mit.edu 37 11 63398817 63398817 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:63398817G>C ENST00000398868.3 - 12 1510 c.1234C>G c.(1234-1236)Cgt>Ggt p.R412G ATL3_ENST00000538786.1_Missense_Mutation_p.R394G|ATL3_ENST00000332645.4_Missense_Mutation_p.R439G NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 412 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 TGCTGGTAACGAAAGCTGAAA 0.463000 39 60 0 0 1 0 0 IGFLR1 79713 broad.mit.edu 37 19 36231306 36231306 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:36231306C>T ENST00000592537.1 - 3 417 c.317G>A c.(316-318)gGc>gAc p.G106D IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000344990.3_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000246532.1_Missense_Mutation_p.G106D Q9H665 IGFR1_HUMAN IGF-like family receptor 1 106 integral to membrane|plasma membrane protein binding|receptor activity endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1) 15 CGGGGTTCTGCCCCCGCCCGC 0.706000 5 20 0 0 1 0 0 CARD16 114769 broad.mit.edu 37 11 104912200 104912200 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:104912200T>C ENST00000375706.2 - 3 538 c.521A>G c.(520-522)cAt>cGt p.H174R CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 AGATCCTTTATGCAAGGGGAG 0.383000 32 53 0 0 1 0 0 BFAR 51283 broad.mit.edu 37 16 14738279 14738279 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:14738279C>T ENST00000261658.2 + 2 353 c.76C>T c.(76-78)Cag>Tag p.Q26* BFAR_ENST00000563971.1_Nonsense_Mutation_p.Q26*|BFAR_ENST00000426842.2_5'UTR NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 26 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 CACCGGCCCTCAGATTTCTGT 0.493000 40 63 0 0 1 0 0 CRYM 1428 broad.mit.edu 37 16 21272618 21272618 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:21272618C>T ENST00000219599.3 - 9 1102 c.837G>A c.(835-837)gtG>gtA p.V279V CRYM_ENST00000415987.2_Silent_p.V237V|CRYM_ENST00000396023.2_Silent_p.V279V|CRYM_ENST00000543948.1_Silent_p.V279V NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 279 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) GGGCTGGTTTCACTCCCTTAA 0.517000 14 26 0 0 1 0 0 LACE1 246269 broad.mit.edu 37 6 108676919 108676919 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:108676919A>G ENST00000368977.4 + 4 663 c.477A>G c.(475-477)aaA>aaG p.K159K NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 159 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AGAGGAAAAAACGGGTTCATT 0.313000 34 16 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515257 113515257 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:113515257C>T ENST00000257600.3 + 2 791 c.288C>T c.(286-288)ttC>ttT p.F96F NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 96 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GGCGCAACTTCTACGACCCGT 0.672000 13 26 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119905579 119905579 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:119905579C>T ENST00000464295.1 - 6 971 c.526G>A c.(526-528)Gat>Aat p.D176N GPR156_ENST00000461057.1_Missense_Mutation_p.D176N|GPR156_ENST00000315843.3_Missense_Mutation_p.D176N Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 176 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) AGGATCACATCAGCCATCAAC 0.502000 32 66 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53301296 53301296 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:53301296G>A ENST00000566029.1 + 21 4620 c.4411G>A c.(4411-4413)Gaa>Aaa p.E1471K CHD9_ENST00000447540.1_Missense_Mutation_p.E1471K|CHD9_ENST00000398510.3_Missense_Mutation_p.E1471K|CHD9_ENST00000564845.1_Missense_Mutation_p.E1471K Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1471 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) ATCTGAAGCTGAAAGTGAAGG 0.413000 27 34 0 0 1 0 0 ATP5C1 509 broad.mit.edu 37 10 7844317 7844317 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:7844317C>T ENST00000356708.7 + 7 801 c.722C>T c.(721-723)tCt>tTt p.S241F ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.S241F|ATP5C1_ENST00000541227.1_Missense_Mutation_p.S194F NM_001001973.1 NP_001001973.1 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 241 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 ATCTACTACTCTCTGAAGGAG 0.448000 14 40 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6161924 6161924 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:6161924C>T ENST00000261405.5 - 16 2225 c.1971G>A c.(1969-1971)gtG>gtA p.V657V NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 657 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ACTGCAGGTACACCTGGCCTT 0.597000 11 26 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71152464 71152464 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:71152464G>A ENST00000355527.3 - 6 711 c.435C>T c.(433-435)atC>atT p.I145I DHCR7_ENST00000407721.2_Silent_p.I145I NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 145 I -> L (in SLOS). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GCAGGCCATTGATCTGATACT 0.552000 Smith-Lemli-Opitz syndrome 17 18 0 0 1 0 0 RRAS 6237 broad.mit.edu 37 19 50139972 50139972 + Silent SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:50139972C>A ENST00000246792.3 - 4 459 c.357G>T c.(355-357)gtG>gtT p.V119V NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 119 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) AGAGCTTGCCCACCTCGTTGA 0.627000 17 31 5.3912e-06 5.49258e-06 1 1 0 RXRB 6257 broad.mit.edu 37 6 33162525 33162525 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:33162525G>A ENST00000374680.3 - 10 1747 c.1536C>T c.(1534-1536)ctC>ctT p.L512L RXRB_ENST00000544186.1_Silent_p.L326L|RXRB_ENST00000374685.4_Silent_p.L516L NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 512 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TGTCACCAATGAGCTTGAAGA 0.557000 16 13 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100364685 100364685 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:100364685C>T ENST00000542585.1 + 0 4813 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.G1555G(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCTTCGATGGCGCCTTGCACC 0.602000 15 39 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47821562 47821562 + Nonsense_Mutation SNP C C A rs147564798 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:47821562C>A ENST00000359568.5 + 26 4996 c.4889C>A c.(4888-4890)tCg>tAg p.S1630* PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1630 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) GAGCCTCCTTCGGGCAGCCCT 0.557000 56 50 4.6707e-30 4.92697e-30 1 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204228552 204228552 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:204228552C>G ENST00000272203.3 - 8 1157 c.841G>C c.(841-843)Ggg>Cgg p.G281R PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G301R NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 281 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GCTGTGCTCCCTGGCCGGCTT 0.657000 25 51 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96943981 96943981 + Silent SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:96943981C>G ENST00000323853.5 - 39 5681 c.5604G>C c.(5602-5604)ctG>ctC p.L1868L SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1868 SEC63 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TCACCTGCCTCAGGAGATTGT 0.552000 29 57 0 0 1 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134339 21134339 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:21134339G>A ENST00000215727.5 + 2 1022 c.739G>A c.(739-741)Gag>Aag p.E247K SERPIND1_ENST00000406799.1_Missense_Mutation_p.E247K|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 247 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TTACTTTGCTGAGGCCCAGAT 0.433000 66 197 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128046431 128046431 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:128046431C>T ENST00000493187.2 - 7 1103 c.640G>A c.(640-642)Gag>Aag p.E214K ERCC3_ENST00000285398.2_Missense_Mutation_p.E278K P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 278 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGGAGTTCCTCAATCATTTCC 0.413000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 70 117 0 0 1 0 0 CREB3L4 148327 broad.mit.edu 37 1 153941855 153941855 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:153941855G>T ENST00000368607.3 + 4 733 c.467G>T c.(466-468)aGt>aTt p.S156I CREB3L4_ENST00000368600.3_Missense_Mutation_p.S136I|CREB3L4_ENST00000368603.1_Missense_Mutation_p.S156I|CREB3L4_ENST00000271889.4_Missense_Mutation_p.S156I|CREB3L4_ENST00000405694.3_Missense_Mutation_p.S9I|CREB3L4_ENST00000368601.1_Missense_Mutation_p.S156I NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 156 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGCATGGTCAGTGAGCTGCCC 0.557000 35 45 1.62565e-12 1.68795e-12 1 1 0 GNA13 10672 broad.mit.edu 37 17 63010911 63010911 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:63010911T>C ENST00000439174.2 - 4 843 c.598A>G c.(598-600)Aga>Gga p.R200G GNA13_ENST00000541118.1_Missense_Mutation_p.R105G NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 200 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 GTGGGTCTTCTGGCAAGCAGA 0.353000 26 43 0 0 1 0 0 RASSF2 9770 broad.mit.edu 37 20 4768393 4768393 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:4768393C>T ENST00000379400.3 - 10 894 c.699G>A c.(697-699)caG>caA p.Q233Q RASSF2_ENST00000478553.1_Intron|RASSF2_ENST00000379376.2_Silent_p.Q233Q NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 233 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 CCTTCAGCTTCTGTTTCTCTG 0.542000 16 21 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66463931 66463931 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:66463931G>A ENST00000359626.5 + 3 427 c.263G>A c.(262-264)gGa>gAa p.G88E NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 88 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) TCTCAGACTGGAACAGCGAAG 0.378000 25 56 0 0 1 0 0 LOC81691 81691 broad.mit.edu 37 16 20837242 20837242 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:20837242G>A ENST00000261377.6 + 8 1002 c.793G>A c.(793-795)Gaa>Aaa p.E265K AC004381.6_ENST00000564274.1_Missense_Mutation_p.E265K|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.E265K NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 GGTCAAACCTGAAAACAAGAT 0.473000 5 13 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87797475 87797475 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:87797475A>T ENST00000398204.4 + 25 2538 c.2215A>T c.(2215-2217)Ata>Tta p.I739L ADAM22_ENST00000398209.3_Missense_Mutation_p.I739L|ADAM22_ENST00000398201.4_Missense_Mutation_p.I739L|ADAM22_ENST00000265727.7_Missense_Mutation_p.I739L|ADAM22_ENST00000315984.7_Missense_Mutation_p.I739L NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 739 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CAATATCATAATAGGCATAAT 0.363000 14 34 0 0 1 0 0 CHPT1 56994 broad.mit.edu 37 12 102107962 102107962 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:102107962C>T ENST00000549872.1 + 2 558 c.368C>T c.(367-369)tCt>tTt p.S123F CHPT1_ENST00000229266.3_Missense_Mutation_p.S123F|CHPT1_ENST00000550385.1_3'UTR Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 123 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AGAACAAACTCTTGTTCCCCT 0.378000 37 95 0 0 1 0 0 CDK6 1021 broad.mit.edu 37 7 92462443 92462443 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:92462443C>T ENST00000265734.4 - 2 606 c.195G>A c.(193-195)ctG>ctA p.L65L CDK6_ENST00000424848.2_Silent_p.L65L NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 65 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CCAGGTGCCTCAGCACCGCCA 0.706000 T MLLT10 ALL OREG0018165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 5 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144810877 144810877 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144810877C>G ENST00000388913.3 - 5 879 c.754G>C c.(754-756)Gag>Cag p.E252Q NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 252 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGGATCTTCTCAAAGGACCAC 0.657000 13 28 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673435 186673435 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:186673435G>C ENST00000343098.5 + 17 19669 c.19669G>C c.(19669-19671)Gat>Cat p.D6557H FSIP2_ENST00000424728.1_Missense_Mutation_p.D6468H NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTTTCCATTAGATACAATTAA 0.308000 27 34 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73923539 73923539 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:73923539C>T ENST00000586717.1 - 8 703 c.430G>A c.(430-432)Gaa>Aaa p.E144K FBF1_ENST00000319129.5_Missense_Mutation_p.E144K|FBF1_ENST00000389570.4_Missense_Mutation_p.E144K A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 144 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 ATGGTACCTTCAGAGGAAAAC 0.577000 3 3 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81207685 81207685 + Silent SNP G G A rs3733335 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:81207685G>A ENST00000312465.7 + 3 892 c.666G>A c.(664-666)tcG>tcA p.S222S FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 222 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 TCAAGCAGTCGGAGCAGCCAG 0.478000 45 52 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133759700 133759700 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:133759700G>A ENST00000318560.5 + 11 2404 c.2023G>A c.(2023-2025)Gag>Aag p.E675K NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 675 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) AGCCCTCCGGGAGTCCGGGGG 0.682000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 20 24 0 0 1 0 0 SCFD2 152579 broad.mit.edu 37 4 53786903 53786903 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:53786903G>T ENST00000401642.3 - 6 1829 c.1696C>A c.(1696-1698)Cat>Aat p.H566N SCFD2_ENST00000388940.4_Missense_Mutation_p.H566N NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 566 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGGTGGGTATGATTTCCAGGA 0.393000 25 33 1.1804e-14 1.22992e-14 1 1 0 HIST1H1B 3009 broad.mit.edu 37 6 27835260 27835260 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:27835260C>T ENST00000331442.3 - 1 99 c.48G>A c.(46-48)gaG>gaA p.E16E NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 16 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CCGGGGATTTCTCCACCGGCG 0.582000 26 11 0 0 1 0 0 HSPA12B 116835 broad.mit.edu 37 20 3732653 3732653 + Missense_Mutation SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:3732653T>A ENST00000254963.2 + 13 2046 c.1901T>A c.(1900-1902)cTt>cAt p.L634H HSPA12B_ENST00000542646.1_Missense_Mutation_p.L468H NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 634 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 AGCCTCGAGCTTGAGCCCGCC 0.697000 5 7 0 0 1 0 0 FUZ 80199 broad.mit.edu 37 19 50315567 50315567 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:50315567C>T ENST00000313777.4 - 3 422 c.259G>A c.(259-261)Gag>Aag p.E87K FUZ_ENST00000533418.1_Missense_Mutation_p.E37K|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000526575.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.E87K|FUZ_ENST00000534008.1_5'UTR NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 87 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) ATGCCCACCTCAGATGACAGA 0.522000 6 28 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130066285 130066285 + Nonsense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:130066285G>T ENST00000278742.5 + 10 1583 c.1165G>T c.(1165-1167)Gag>Tag p.E389* NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 389 CUB 2. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CTACCTGCTGGAGCCCGGCGT 0.637000 4 11 1.23904e-05 1.25377e-05 1 1 0 HIF1A 3091 broad.mit.edu 37 14 62200933 62200933 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:62200933C>T ENST00000394997.1 + 8 1226 c.961C>T c.(961-963)Caa>Taa p.Q321* HIF1A_ENST00000539097.1_Nonsense_Mutation_p.Q344*|HIF1A_ENST00000337138.4_Nonsense_Mutation_p.Q320*|HIF1A_ENST00000557538.1_Nonsense_Mutation_p.Q261*|HIF1A_ENST00000323441.6_Nonsense_Mutation_p.Q320*|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA Q16665 HIF1A_HUMAN hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 320 Interaction with TSGA10 (By similarity).|PAC. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) GGTTGAAACTCAAGCAACTGT 0.383000 19 5 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7880494 7880494 + Missense_Mutation SNP C C T rs139361183 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:7880494C>T ENST00000283147.6 + 7 1619 c.1460C>T c.(1459-1461)tCg>tTg p.S487L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 487 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) AATGCCATCTCGGTTCTTTAC 0.448000 56 53 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27751476 27751476 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:27751476G>A ENST00000261588.4 + 15 1877 c.1858G>A c.(1858-1860)Gac>Aac p.D620N NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 620 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CATCCTGGTTGACCAGAAGAA 0.527000 27 66 0 0 1 0 0 PI4K2B 55300 broad.mit.edu 37 4 25253958 25253958 + Nonsense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:25253958C>A ENST00000264864.6 + 2 473 c.284C>A c.(283-285)tCa>tAa p.S95* PI4K2B_ENST00000512921.1_5'UTR NM_018323.3 NP_060793.2 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 95 cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) ATTGGTACTTCAGAGATGAAT 0.383000 19 37 4.35082e-09 4.47084e-09 1 1 0 HOXB1 3211 broad.mit.edu 37 17 46607197 46607197 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:46607197G>A ENST00000239174.6 - 2 710 c.618C>T c.(616-618)ctC>ctT p.L206L HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 206 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGTTGGTGCGGAGGCCACTGG 0.607000 48 33 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112466047 112466047 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:112466047G>A ENST00000230538.7 - 19 2839 c.2442C>T c.(2440-2442)agC>agT p.S814S LAMA4_ENST00000424408.2_Silent_p.S807S|LAMA4_ENST00000522006.1_Silent_p.S807S|LAMA4_ENST00000389463.4_Silent_p.S807S NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 814 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCCTCTGGATGCTGGCAGAAA 0.488000 30 12 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464862 25464862 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:25464862C>G ENST00000376351.3 + 1 872 c.513C>G c.(511-513)atC>atG p.I171M GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 171 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGCCCAGCATCTCCCGGGCGG 0.647000 18 36 0 0 1 0 0 GALK1 2584 broad.mit.edu 37 17 73754661 73754661 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:73754661G>C ENST00000588479.1 - 6 1387 c.813C>G c.(811-813)agC>agG p.S271R GALK1_ENST00000225614.2_Missense_Mutation_p.S271R|GALK1_ENST00000437911.1_Missense_Mutation_p.S301R P51570 GALK1_HUMAN galactokinase 1 271 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 5 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCCCTCTTTGCTCACCAGGT 0.701000 4 8 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196675332 196675332 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:196675332G>A ENST00000412723.1 - 3 582 c.436C>T c.(436-438)Cac>Tac p.H146Y PIGZ_ENST00000443835.1_Intron NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 146 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GGGGCCAGGTGGTACACGGCC 0.667000 13 24 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805210 22805210 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:22805210C>T ENST00000361524.3 - 4 2820 c.2672G>A c.(2671-2673)tGt>tAt p.C891Y ZNF521_ENST00000538137.2_Missense_Mutation_p.C891Y|ZNF521_ENST00000584787.1_Missense_Mutation_p.C671Y NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 891 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGCTGCCCCACAAATGTCGCA 0.522000 T PAX5 ALL 41 71 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197597072 197597072 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:197597072G>A ENST00000438796.2 + 18 1959 c.1915G>A c.(1915-1917)Gat>Aat p.D639N LRCH3_ENST00000441090.2_Missense_Mutation_p.D485N|LRCH3_ENST00000425562.2_Missense_Mutation_p.D639N|LRCH3_ENST00000536618.1_Missense_Mutation_p.D234N|LRCH3_ENST00000334859.4_Missense_Mutation_p.D639N|LRCH3_ENST00000414675.2_Missense_Mutation_p.D587N Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 639 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) ACCTACCACTGATTCTACAGA 0.403000 47 84 0 0 1 0 0 DR1 1810 broad.mit.edu 37 1 93812391 93812391 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:93812391G>A ENST00000370272.4 + 1 947 c.189G>A c.(187-189)aaG>aaA p.K63K DR1_ENST00000370267.1_Silent_p.K63K NM_001938.2 NP_001929.1 Q01658 NC2B_HUMAN down-regulator of transcription 1, TBP-binding (negative cofactor 2) histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity endometrium(3)|large_intestine(1) 4 all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155) all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977) AATCGGAAAAGAAGACCATCT 0.468000 7 14 0 0 1 0 0 LAPTM4A 9741 broad.mit.edu 37 2 20237361 20237361 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:20237361G>C ENST00000175091.4 - 3 754 c.247C>G c.(247-249)Ctt>Gtt p.L83V NM_014713.4 NP_055528.1 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 83 transport endomembrane system|Golgi apparatus|integral to membrane endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACGGCAAAAAGAACACAGGCA 0.289000 13 21 0 0 1 0 0 SLC16A1 6566 broad.mit.edu 37 1 113456585 113456585 + Silent SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:113456585A>C ENST00000538576.1 - 5 2262 c.1431T>G c.(1429-1431)gtT>gtG p.V477V SLC16A1_ENST00000369626.3_Silent_p.V477V NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 477 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CTGCTTTGGTAACTTCATTTG 0.458000 55 75 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86374830 86374830 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:86374830C>T ENST00000410111.3 - 13 1915 c.1528G>A c.(1528-1530)Gag>Aag p.E510K IMMT_ENST00000442664.2_Missense_Mutation_p.E509K|IMMT_ENST00000449247.2_Missense_Mutation_p.E499K|IMMT_ENST00000254636.5_Missense_Mutation_p.E411K|IMMT_ENST00000409051.2_Missense_Mutation_p.E463K NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 510 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTCACCTGCTCAAATTCAGAC 0.483000 21 29 0 0 1 0 0 RHBDF2 79651 broad.mit.edu 37 17 74474947 74474947 + Missense_Mutation SNP G G A rs138968491 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:74474947G>A ENST00000591885.1 - 6 1163 c.613C>T c.(613-615)Cgc>Tgc p.R205C RHBDF2_ENST00000389760.4_Missense_Mutation_p.R205C|RHBDF2_ENST00000313080.4_Missense_Mutation_p.R234C Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 234 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 CTCTTGCGGCGTGGCAGGTGG 0.687000 17 28 0 0 1 0 0 MAP6 4135 broad.mit.edu 37 11 75298823 75298823 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:75298823G>A ENST00000304771.3 - 4 2473 c.1723C>T c.(1723-1725)Cct>Tct p.P575S MAP6_ENST00000526740.1_Missense_Mutation_p.P246S|CTD-2530H12.4_ENST00000527803.1_RNA NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 575 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GGGACCATAGGAGCTTGATTC 0.502000 59 100 0 0 1 0 0 LDB1 8861 broad.mit.edu 37 10 103868831 103868831 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:103868831C>T ENST00000361198.5 - 10 1475 c.852G>A c.(850-852)aaG>aaA p.K284K LDB1_ENST00000425280.1_Silent_p.K320K NM_003893.4 NP_003884.1 Q86U70 LDB1_HUMAN LIM domain binding 1 320 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) GGCTCTTCTTCTTGCTGTTGC 0.592000 22 37 0 0 1 0 0 CSK 1445 broad.mit.edu 37 15 75091647 75091647 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:75091647G>A ENST00000220003.9 + 5 1006 c.277G>A c.(277-279)Gag>Aag p.E93K CSK_ENST00000567571.1_Missense_Mutation_p.E93K|CSK_ENST00000439220.2_Missense_Mutation_p.E93K|CSK_ENST00000309470.9_Missense_Mutation_p.E93K NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 93 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 GGAGCAGGCTGAGCGGCTTCT 0.632000 11 16 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084109 152084109 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:152084109G>A ENST00000368804.1 - 2 1583 c.1584C>T c.(1582-1584)ctC>ctT p.L528L NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 528 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCGCTGCTGGAGCCTCTCTT 0.652000 47 92 0 0 1 0 0 FOS 2353 broad.mit.edu 37 14 75747770 75747770 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:75747770G>T ENST00000303562.4 + 4 995 c.786G>T c.(784-786)atG>atT p.M262I FOS_ENST00000535987.1_Missense_Mutation_p.M226I|FOS_ENST00000555347.1_Missense_Mutation_p.M114I|FOS_ENST00000555686.1_Missense_Mutation_p.M148I NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 262 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) TCAGCAGCATGGAGCTGAAGA 0.597000 37 28 3.62531e-18 3.79733e-18 1 1 0 MYNN 55892 broad.mit.edu 37 3 169496653 169496653 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:169496653G>A ENST00000349841.5 + 3 1027 c.364G>A c.(364-366)Gct>Act p.A122T MYNN_ENST00000392733.1_Missense_Mutation_p.A122T|MYNN_ENST00000544106.1_Missense_Mutation_p.A122T|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.A122T NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 122 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TGCTTTTATTGCTAATCCTTC 0.343000 24 56 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77657032 77657032 + Silent SNP C C T rs143136849 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:77657032C>T ENST00000461745.1 + 21 4120 c.3220C>T c.(3220-3222)Cta>Tta p.L1074L ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Silent_p.L1090L|ROBO2_ENST00000332191.8_Silent_p.L1074L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1074 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 p.L1074L(1)|p.L1090L(1) 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) CAATGTCCCTCTACCTCCCCC 0.423000 10 34 0 0 1 0 0 FUNDC2 65991 broad.mit.edu 37 X 154282927 154282927 + Missense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:154282927C>A ENST00000369498.3 + 5 804 c.550C>A c.(550-552)Ctg>Atg p.L184M FUNDC2_ENST00000484175.1_3'UTR NM_023934.3 NP_076423.2 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 184 mitochondrion p.L184V(1) breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGAGGCTTTCTGCTTGGCAT 0.448000 51 25 2.81731e-22 2.9614e-22 1 1 0 RNF168 165918 broad.mit.edu 37 3 196198864 196198864 + Silent SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:196198864T>A ENST00000318037.3 - 6 2136 c.1542A>T c.(1540-1542)tcA>tcT p.S514S NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 514 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTTTGTCCCTTGAGCCTCTCT 0.423000 87 191 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160219955 160219955 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:160219955A>C ENST00000334256.4 - 17 1808 c.1503T>G c.(1501-1503)atT>atG p.I501M NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 501 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TTCCGCCTTGAATTGCCTCTG 0.348000 34 45 0 0 1 0 0 IST1 9798 broad.mit.edu 37 16 71961660 71961660 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:71961660G>C ENST00000378799.6 + 10 1401 c.1045G>C c.(1045-1047)Gac>Cac p.D349H IST1_ENST00000538565.1_3'UTR|IST1_ENST00000541571.2_Missense_Mutation_p.D349H|IST1_ENST00000535424.1_Missense_Mutation_p.D362H|IST1_ENST00000606369.1_Missense_Mutation_p.D201H|IST1_ENST00000544564.1_Missense_Mutation_p.D349H|IST1_ENST00000538850.1_Missense_Mutation_p.D201H|IST1_ENST00000378798.5_Missense_Mutation_p.D318H|IST1_ENST00000329908.8_Missense_Mutation_p.K347N P53990 IST1_HUMAN increased sodium tolerance 1 homolog (yeast) 347 Interaction with VPS4A, VTA1, MITD1 STAMBP and USP8.|Interaction with VTA1. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding AGCATCTGAAGACATTGACTT 0.458000 67 125 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71192177 71192177 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:71192177C>T ENST00000234396.4 + 14 1541 c.1468C>T c.(1468-1470)Ccg>Tcg p.P490S AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.P473S NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 490 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 GAAGCGCATTCCGCAGGCCGT 0.662000 OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 37 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74277802 74277802 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:74277802A>T ENST00000295897.4 + 7 892 c.803A>T c.(802-804)gAa>gTa p.E268V ALB_ENST00000415165.2_Missense_Mutation_p.E76V|ALB_ENST00000503124.1_Missense_Mutation_p.E118V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.E153V|ALB_ENST00000509063.1_Missense_Mutation_p.E268V NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 268 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GTCCACACGGAATGCTGCCAT 0.458000 32 62 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50036434 50036434 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:50036434C>T ENST00000261897.1 + 20 2540 c.1989C>T c.(1987-1989)ttC>ttT p.F663F PRPF40B_ENST00000548825.2_Silent_p.F698F|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Silent_p.F676F Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 676 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 TCCGGCTCTTCCGGGAGTTCC 0.567000 16 22 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99532219 99532219 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:99532219G>A ENST00000376460.1 - 27 2956 c.2876C>T c.(2875-2877)tCa>tTa p.S959L DOCK9_ENST00000448493.2_Missense_Mutation_p.S971L|DOCK9_ENST00000339416.2_Missense_Mutation_p.S960L|DOCK9_ENST00000442173.1_Missense_Mutation_p.S959L NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 960 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GAAAAACCATGAGTACTAAAA 0.363000 15 29 0 0 1 0 0 BLOC1S4 55330 broad.mit.edu 37 4 6718478 6718478 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:6718478C>G ENST00000320776.3 + 1 637 c.542C>G c.(541-543)tCg>tGg p.S181W NM_018366.2 NP_060836.1 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino AACGTGCCCTCGCTCTTTAGC 0.622000 6 8 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44556401 44556401 + Silent SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:44556401G>C ENST00000289547.4 - 17 3556 c.3501C>G c.(3499-3501)ctC>ctG p.L1167L NPC1L1_ENST00000546276.1_Silent_p.L1094L|NPC1L1_ENST00000381160.3_Silent_p.L1140L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1167 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGAGCAGGTTGAGGAGGCCGG 0.612000 3 12 0 0 1 0 0 OSBPL11 114885 broad.mit.edu 37 3 125313607 125313607 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:125313607G>A ENST00000296220.5 - 1 327 c.38C>T c.(37-39)tCg>tTg p.S13L NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 13 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 TTCGCTCTCCGAGACTTTCAT 0.562000 15 23 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076110 57076110 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:57076110G>A ENST00000532437.1 - 5 4386 c.4075C>T c.(4075-4077)Cca>Tca p.P1359S TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1359S Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1359 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GCTTCACTTGGAGCCCCAAAG 0.652000 48 104 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67694244 67694244 + Silent SNP A A G rs2303761 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:67694244A>G ENST00000219251.8 - 1 469 c.138T>C c.(136-138)cgT>cgC p.R46R ACD_ENST00000393919.4_Silent_p.R46R NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 46 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGCCCCGCCCACGTACACCCC 0.736000 6 12 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116307492 116307492 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:116307492C>T ENST00000533213.2 - 5 838 c.537G>A c.(535-537)ctG>ctA p.L179L ABLIM1_ENST00000277895.5_Silent_p.L239L|ABLIM1_ENST00000369252.4_Silent_p.L179L O14639 ABLM1_HUMAN actin binding LIM protein 1 239 LIM zinc-binding 2. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CCAGCGCCAGCAGCGCCTGCC 0.552000 12 19 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26533881 26533881 + Nonsense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:26533881G>T ENST00000333478.6 - 8 2700 c.2118C>A c.(2116-2118)taC>taA p.Y706* GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Nonsense_Mutation_p.Y508*|GPR113_ENST00000311519.1_Nonsense_Mutation_p.Y905*|GPR113_ENST00000421160.2_Nonsense_Mutation_p.Y836* NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 905 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTGAGGTAGGTAGAGCCCCA 0.607000 12 8 1.08611e-07 1.11415e-07 1 1 0 CLCN3P1 100419056 broad.mit.edu 37 9 15017388 15017388 + RNA SNP G G C rs112344710 by1000genomes TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:15017388G>C ENST00000609203.1 - 0 764 AATAGTTGAGGCTGCAAGTGA 0.373000 3 25 0 0 1 0 0 VPS37B 79720 broad.mit.edu 37 12 123353041 123353041 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:123353041C>G ENST00000267202.2 - 3 733 c.352G>C c.(352-354)Gag>Cag p.E118Q NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 118 Interaction with IST1.|VPS37 C-terminal. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) GTGTCTTCCTCAATCTTGGCC 0.557000 4 14 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33574708 33574708 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:33574708G>A ENST00000262873.7 + 13 1142 c.1050G>A c.(1048-1050)atG>atA p.M350I NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 308 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TTCTGTCTATGAACCCCTATG 0.567000 26 33 0 0 1 0 0 PDGFB 5155 broad.mit.edu 37 22 39636860 39636860 + Splice_Site SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:39636860G>A ENST00000381551.4 - 1 54 c.18C>T c.(16-18)ctC>ctT p.L6L PDGFB_ENST00000331163.6_Intron NM_033016.2 NP_148937.1 P01127 PDGFB_HUMAN platelet-derived growth factor beta polypeptide 0 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity p.L6L(2) COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) AGGTACTTACGAGGCCCATGA 0.473000 T COL1A1 DFSP 14 19 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33110348 33110348 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:33110348C>T ENST00000307363.5 - 3 504 c.360G>A c.(358-360)ctG>ctA p.L120L GLB1_ENST00000399402.3_Silent_p.L90L|GLB1_ENST00000445488.2_Silent_p.L168L|GLB1_ENST00000307377.8_Intron NM_000404.2 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 120 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) GCCCGGGCCTCAGGATAACCA 0.562000 45 27 0 0 1 0 0 CYB5B 80777 broad.mit.edu 37 16 69458758 69458758 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:69458758G>A ENST00000512062.1 + 1 331 c.160G>A c.(160-162)Gag>Aag p.E54K CYB5B_ENST00000561792.1_Missense_Mutation_p.E54K|CYB5B_ENST00000307892.8_Missense_Mutation_p.E58K|CYB5B_ENST00000515314.1_Missense_Mutation_p.E54K O43169 CYB5B_HUMAN cytochrome b5 type B (outer mitochondrial membrane) 54 Cytochrome b5 heme-binding. electron transport chain|transport integral to membrane|mitochondrial outer membrane heme binding endometrium(3)|kidney(3)|lung(2) 8 Ovarian(137;0.101) CTTCCTCAACGAGGTGGGGCC 0.602000 15 29 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65194231 65194231 + Splice_Site SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:65194231A>G ENST00000381210.3 - 3 440 c.330T>C c.(328-330)tgT>tgC p.C110C TECRL_ENST00000507440.1_Splice_Site_p.C110C NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 110 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 GCTTCTTACCACATTCTAGCT 0.299000 19 40 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607432 53607432 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:53607432G>A ENST00000425354.2 - 8 1353 c.866C>T c.(865-867)tCc>tTc p.S289F RARG_ENST00000543726.1_Missense_Mutation_p.S267F|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.S217F|RARG_ENST00000394426.1_Missense_Mutation_p.S289F|RARG_ENST00000338561.5_Missense_Mutation_p.S278F NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 289 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CAGCCCGTCGGAGAAGGTCAT 0.622000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 38 0 0 1 0 0 RAB3IL1 5866 broad.mit.edu 37 11 61672126 61672126 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:61672126G>A ENST00000394836.2 - 7 948 c.791C>T c.(790-792)tCg>tTg p.S264L RAB3IL1_ENST00000301773.5_Missense_Mutation_p.S238L NM_013401.2 NP_037533.2 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 264 protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 TACCAGCACCGAGAGCTGTGG 0.692000 3 10 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79063930 79063930 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:79063930G>A ENST00000388820.4 - 15 2583 c.2373C>T c.(2371-2373)atC>atT p.I791I ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 791 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CAGGCACCTGGATCCAGACAG 0.687000 7 4 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42271711 42271711 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr22:42271711C>G ENST00000361204.4 + 7 1535 c.1369C>G c.(1369-1371)Cta>Gta p.L457V NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 457 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGGAAGCCCTCTATTGGATGA 0.502000 36 34 0 0 1 0 0 LOC101929147 101929147 broad.mit.edu 37 1 119683300 119683300 + RNA SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:119683300G>A ENST00000440150.1 + 0 253 RP11-418J17.1_ENST00000425884.1_RNA TGTTTGGAATGACGTCTGTTC 0.627000 4 4 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158519993 158519993 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:158519993G>A ENST00000415822.2 + 1 340 c.199G>A c.(199-201)Gag>Aag p.E67K MFSD1_ENST00000392813.4_Missense_Mutation_p.E67K|MFSD1_ENST00000264266.8_Missense_Mutation_p.E18K NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 18 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) CGGCCCTGACGAGGCCGACAG 0.682000 4 12 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144995865 144995865 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144995865C>G ENST00000322810.4 - 32 8704 c.8535G>C c.(8533-8535)gaG>gaC p.E2845D PLEC_ENST00000398774.2_Missense_Mutation_p.E2676D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2708D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2731D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2712D|PLEC_ENST00000354958.2_Missense_Mutation_p.E2686D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2708D|PLEC_ENST00000356346.3_Missense_Mutation_p.E2694D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2735D NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2845 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CACTCAGCTTCTCATTGGTGG 0.672000 20 39 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111853158 111853158 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:111853158G>A ENST00000440460.2 + 8 1159 c.862G>A c.(862-864)Gaa>Aaa p.E288K DIXDC1_ENST00000315253.5_Missense_Mutation_p.E77K|DIXDC1_ENST00000389821.4_3'UTR NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 289 Actin-binding. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) GGAACAACAAGAATATTTAGA 0.423000 OREG0021331 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 13 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49132163 49132163 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:49132163C>T ENST00000443164.1 + 5 1989 c.1284C>T c.(1282-1284)ctC>ctT p.L428L SPHK2_ENST00000598088.1_Silent_p.L366L|SPHK2_ENST00000599748.1_Silent_p.L330L|SPHK2_ENST00000600537.1_Silent_p.L307L|SPHK2_ENST00000245222.4_Silent_p.L366L|SPHK2_ENST00000599029.1_Silent_p.L330L|SPHK2_ENST00000340932.3_Silent_p.L328L Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 366 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGCTGGGCCTCGCCACACTGC 0.667000 32 43 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120725491 120725491 + Silent SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:120725491T>C ENST00000263708.2 + 26 3408 c.2637T>C c.(2635-2637)taT>taC p.Y879Y PTPN4_ENST00000544261.1_Silent_p.Y512Y NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 879 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) AGCCAGTTTATCCACTAGATA 0.373000 32 78 0 0 1 0 0 DDI2 84301 broad.mit.edu 37 1 15959933 15959933 + Splice_Site SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:15959933G>C ENST00000480945.1 + 4 676 c.e4-1 NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TATTTTTGTAGAGAAATTTTC 0.393000 78 149 0 0 1 0 0 TLX1 3195 broad.mit.edu 37 10 102894051 102894051 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:102894051G>A ENST00000370196.6 + 2 2730 c.688G>A c.(688-690)Gag>Aag p.E230K TLX1_ENST00000467928.2_Missense_Mutation_p.E230K P31314 TLX1_HUMAN T-cell leukemia homeobox 1 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|upper_aerodigestive_tract(1) 2 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GGCCTCGGCCGAGCGCGCCGC 0.652000 T """TRB@, TRD@""" T-ALL 10 9 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118502031 118502031 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:118502031G>C ENST00000349139.5 + 27 2840 c.2793G>C c.(2791-2793)aaG>aaC p.K931N SPAG17_ENST00000336338.5_Intron NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) agaagaggaagaggaaaaaga 0.368000 14 39 0 0 1 0 0 SNCB 6620 broad.mit.edu 37 5 176053750 176053750 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:176053750C>T ENST00000310112.3 - 4 384 c.134G>A c.(133-135)cGa>cAa p.R45Q SNCB_ENST00000393693.2_Missense_Mutation_p.R45Q|SNCB_ENST00000510387.1_Missense_Mutation_p.R45Q|SNCB_ENST00000506696.1_Missense_Mutation_p.R45Q NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 45 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|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) CACACCTTCTCGGGTCTTGCT 0.572000 31 22 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64453240 64453240 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:64453240G>A ENST00000358025.3 + 19 2448 c.2218G>A c.(2218-2220)Gaa>Aaa p.E740K SYNE2_ENST00000554584.1_Missense_Mutation_p.E740K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E740K NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 740 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAAAGATGTTGAAAAACTCAT 0.388000 14 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179422195 179422195 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:179422195C>G ENST00000589042.1 - 329 88018 c.87794G>C c.(87793-87795)gGa>gCa p.G29265A TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26697A|TTN_ENST00000591111.1_Missense_Mutation_p.G27624A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20325A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20200A|TTN_ENST00000342175.6_Missense_Mutation_p.G20392A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27624 Fibronectin type-III 113. 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) TGCACTGCCTCCATTTGACAC 0.458000 24 66 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18874745 18874745 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:18874745G>A ENST00000388995.6 - 6 2622 c.2399C>T c.(2398-2400)aCg>aTg p.T800M SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.T800M|FAM83G_ENST00000345041.4_Missense_Mutation_p.T800M|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 800 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GCTACCGCCCGTCCTGGCCTT 0.637000 42 34 0 0 1 0 0 PPP1CB 5500 broad.mit.edu 37 2 29004678 29004678 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:29004678G>C ENST00000395366.2 + 4 762 c.490G>C c.(490-492)Gtg>Ctg p.V164L PPP1CB_ENST00000296122.6_Missense_Mutation_p.V164L|PPP1CB_ENST00000358506.2_Missense_Mutation_p.V164L NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 164 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) AGCAGCCATTGTGGATGAGAA 0.313000 11 38 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131760444 131760444 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:131760444C>T ENST00000368648.3 - 4 474 c.402G>A c.(400-402)atG>atA p.M134I EBF3_ENST00000355311.5_Missense_Mutation_p.M134I NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 134 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCTGTTTGGTCATTGAATCTA 0.488000 16 35 0 0 1 0 0 CRYZL1 9946 broad.mit.edu 37 21 34962153 34962153 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:34962153C>G ENST00000290244.5 - 12 1223 c.980G>C c.(979-981)aGa>aCa p.R327T CRYZL1_ENST00000381554.3_Missense_Mutation_p.R342T|CRYZL1_ENST00000445393.1_Missense_Mutation_p.E180Q|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_3'UTR O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 342 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding lung(1)|prostate(1)|urinary_tract(1) 3 TTGCTTTTTTCTTCCTTGATT 0.353000 24 12 0 0 1 0 0 ZNF182 7569 broad.mit.edu 37 X 47842407 47842407 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:47842407G>A ENST00000396965.1 - 6 581 c.231C>T c.(229-231)ctC>ctT p.L77L ZNF182_ENST00000376943.3_Silent_p.L58L|ZNF182_ENST00000305127.6_Silent_p.L77L NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 CCTCCAACTTGAGGATGAGGT 0.463000 26 4 0 0 1 0 0 CIB1 10519 broad.mit.edu 37 15 90774617 90774617 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:90774617G>A ENST00000328649.6 - 4 479 c.318C>T c.(316-318)atC>atT p.I106I NM_006384.3 NP_006375.2 Q99828 CIB1_HUMAN calcium and integrin binding 1 (calmyrin) 106 EF-hand 1. I -> T (in dbSNP:rs11551250). apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding lung(1)|prostate(1) 2 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) AATGGGACTTGATGTCTGGCG 0.572000 14 12 0 0 1 0 0 IMPAD1 54928 broad.mit.edu 37 8 57905976 57905976 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:57905976C>T ENST00000262644.4 - 1 427 c.169G>A c.(169-171)Gat>Aat p.D57N NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 57 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GTGCCCCCATcggccgcggcc 0.746000 6 8 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14042169 14042169 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:14042169G>C ENST00000311895.7 + 11 2725 c.2716G>C c.(2716-2718)Gca>Cca p.A906P NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 906 Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 CACCTCTTTTGCAGAAGTCGT 0.448000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 35 58 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56699306 56699306 + Missense_Mutation SNP C C A rs146870824 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:56699306C>A ENST00000260129.5 + 4 1326 c.849C>A c.(847-849)aaC>aaA p.N283K NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 283 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) ATGACAAGAACGATGAAAAAT 0.368000 50 95 1.86633e-21 1.95834e-21 1 1 0 LRIT2 340745 broad.mit.edu 37 10 85984111 85984111 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:85984111C>T ENST00000372113.4 - 2 875 c.870G>A c.(868-870)ctG>ctA p.L290L LRIT2_ENST00000538192.1_Silent_p.L290L NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 290 Ig-like. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TCCACATACTCAGGGGATAAG 0.527000 24 21 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627428 43627428 + Missense_Mutation SNP G G A rs11261835 by1000genomes TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:43627428G>A ENST00000332857.6 - 4 1287 c.1259C>T c.(1258-1260)cCc>cTc p.P420L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.P420L(1) GTGCAGAGAGGGGAGGCCCCA 0.498000 8 162 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74685896 74685896 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:74685896C>T ENST00000361070.4 - 3 740 c.643G>A c.(643-645)Gat>Aat p.D215N RFWD3_ENST00000571750.1_Missense_Mutation_p.D215N NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 215 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CTGTCAGAATCAGAACTACTA 0.478000 34 61 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5440230 5440230 + Missense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:5440230C>A ENST00000345221.3 - 8 3455 c.2901G>T c.(2899-2901)atG>atT p.M967I NLRP1_ENST00000269280.4_Missense_Mutation_p.M967I|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000572272.1_Missense_Mutation_p.M967I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.M967I NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 967 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GTTCCTGCCTCATCTCATCAC 0.622000 12 12 5.50884e-06 5.5933e-06 1 1 0 TSIX 9383 broad.mit.edu 37 X 73044223 73044223 + RNA SNP T T A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:73044223T>A ENST00000604411.1 + 0 32184 XIST_ENST00000429829.1_lincRNA NR_003255.2 AATCAACAGttacatttatat 0.299000 7 1 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 29 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179478451 179478451 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:179478451C>G ENST00000367618.3 + 21 2796 c.2409C>G c.(2407-2409)atC>atG p.I803M NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 803 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ATGAATGGATCAACACATGCT 0.348000 14 30 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33989000 33989000 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:33989000A>G ENST00000373381.4 - 67 10592 c.10416T>C c.(10414-10416)gaT>gaC p.D3472D NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3328 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) GGAGATGAAAATCTTCTTTCT 0.383000 6 3 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812478 2812478 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:2812478G>A ENST00000301740.8 + 11 2498 c.1949G>A c.(1948-1950)aGa>aAa p.R650K NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 650 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TCACGCTCTAGAACCCCAGCT 0.612000 34 51 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43913146 43913146 + Missense_Mutation SNP C C T rs145742147 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:43913146C>T ENST00000291536.3 - 2 265 c.98G>A c.(97-99)cGt>cAt p.R33H RSPH1_ENST00000398352.3_Intron NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 33 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 TGCCCTCCCACGTCCGTGCCT 0.522000 137 58 0 0 1 0 0 SLC25A41 284427 broad.mit.edu 37 19 6427193 6427193 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:6427193C>T ENST00000321510.6 - 6 929 c.861G>A c.(859-861)tcG>tcA p.S287S NM_173637.3 NP_775908.2 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 287 transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 GCGTCACAGACGACAGACTGA 0.627000 3 5 0 0 1 0 0 KRTCAP2 200185 broad.mit.edu 37 1 155145044 155145044 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:155145044C>T ENST00000295682.4 - 3 328 c.298G>A c.(298-300)Gag>Aag p.E100K KRTCAP2_ENST00000490672.1_5'UTR|RP11-201K10.3_ENST00000473363.2_Silent_p.L177L NM_173852.3 NP_776251.1 Q8N6L1 KTAP2_HUMAN keratinocyte associated protein 2 100 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CACTTACTCTCAGGGAAGATC 0.418000 18 41 0 0 1 0 0 GABRR3 200959 broad.mit.edu 37 3 97726706 97726706 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:97726706C>T ENST00000472788.1 - 0 657 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 GGACTTGTTTCCGTGTTTCCA 0.373000 6 13 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316005 30316005 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:30316005A>G ENST00000375377.1 - 3 3173 c.3072T>C c.(3070-3072)agT>agC p.S1024S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1024 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCTCTCCACCACTGTCAAACT 0.582000 54 80 0 0 1 0 0 GNL1 2794 broad.mit.edu 37 6 30523426 30523426 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:30523426C>T ENST00000376621.3 - 2 1115 c.145G>A c.(145-147)Gac>Aac p.D49N NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 49 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TCCGAGGTGTCGGTCTGTTCC 0.662000 19 17 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67291253 67291253 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:67291253G>C ENST00000299798.11 + 8 1406 c.1341G>C c.(1339-1341)ttG>ttC p.L447F NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 447 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CATAGGGCTTGACCATCAAGC 0.542000 16 54 0 0 1 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70736618 70736618 + Silent SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:70736618T>C ENST00000370944.4 - 12 1729 c.1416A>G c.(1414-1416)gtA>gtG p.V472V ANKRD13C_ENST00000262346.6_Silent_p.V437V|ANKRD13C_ENST00000464236.1_5'UTR NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 472 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 AGGGAGCTACTACTTCTAAAA 0.323000 11 23 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37864656 37864656 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:37864656G>A ENST00000406381.2 + 5 728 c.218G>A c.(217-219)cGa>cAa p.R73Q ERBB2_ENST00000540042.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R103Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R88Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R103Q|ERBB2_ENST00000445658.2_Intron NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 103 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CGGATTGTGCGAGGCACCCAG 0.612000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 28 27 0 0 1 0 0 RND1 27289 broad.mit.edu 37 12 49255809 49255809 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:49255809C>T ENST00000309739.5 - 3 431 c.301G>A c.(301-303)Gac>Aac p.D101N NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 101 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 AGTGCGCTGTCCACTGTCTCT 0.478000 24 28 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29639199 29639199 + Silent SNP T T G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:29639199T>G ENST00000318184.5 - 8 974 c.975A>C c.(973-975)ggA>ggC p.G325G OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 325 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) CTCTCTGGCTTCCATTCACTT 0.443000 21 31 0 0 1 0 0 AMACR 23600 broad.mit.edu 37 5 33997532 33997532 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:33997532C>G ENST00000382068.3 - 4 678 c.670G>C c.(670-672)Gtt>Ctt p.V224L AMACR_ENST00000426255.2_Silent_p.S277S|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000512079.1_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382085.3_Intron|AMACR_ENST00000335606.6_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000502637.1_Intron Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 TGGGCTGCAACGATGGCCATT 0.483000 OREG0016555 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 67 0 0 1 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452858 106452858 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:106452858C>T ENST00000390594.2 - 0 227 CTGTCGCACCCAGTGCATATA 0.572000 53 49 0 0 1 0 0 SNX22 79856 broad.mit.edu 37 15 64445876 64445876 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:64445876G>A ENST00000325881.4 + 5 444 c.385G>A c.(385-387)Gac>Aac p.D129N NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 129 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding large_intestine(3)|lung(1)|urinary_tract(2) 6 CCTGCCTGGCGACAGCAGGCA 0.647000 OREG0023180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 16 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210334350 210334350 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:210334350A>T ENST00000537238.1 + 9 1908 c.1517A>T c.(1516-1518)cAg>cTg p.Q506L SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.Q563L|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.Q506L|SYT14_ENST00000472886.1_Missense_Mutation_p.Q544L|SYT14_ENST00000534859.1_Missense_Mutation_p.Q570L|SYT14_ENST00000422431.1_Missense_Mutation_p.Q608L NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 544 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TCAAAAGGACAGCAAGTATGT 0.388000 35 62 0 0 1 0 0 LINC01566 283914 broad.mit.edu 37 16 34624141 34624141 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:34624141C>T ENST00000569242.1 + 0 1987 NR_027079.1 CCGTGGCTCGCAGCCATCACA 0.438000 9 18 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874026 144874026 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:144874026G>A ENST00000369359.4 - 34 5377 c.5339C>T c.(5338-5340)tCc>tTc p.S1780F PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1644F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600F Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1644 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) ATGATGGATGGAATCTATAAA 0.458000 T PDGFRB MPD 58 267 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113147110 113147110 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:113147110C>T ENST00000302558.3 - 20 3603 c.3412G>A c.(3412-3414)Gat>Aat p.D1138N RGPD8_ENST00000409750.1_Missense_Mutation_p.D998N NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GCATCACCATCAGAGAAATCA 0.448000 69 315 0 0 1 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98660209 98660209 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:98660209C>T ENST00000288985.7 + 3 888 c.583C>T c.(583-585)Cta>Tta p.L195L ERCC6L2_ENST00000466840.1_3'UTR NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 195 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding AGAGTTTTTACTAAGAAGTAT 0.338000 31 62 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944919 117944919 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:117944919G>A ENST00000356554.3 + 2 1149 c.414G>A c.(412-414)caG>caA p.Q138Q MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 138 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) CAGAAATTCAGACAGAGAAAA 0.403000 26 43 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78325484 78325484 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:78325484G>A ENST00000238561.5 + 4 384 c.285G>A c.(283-285)aaG>aaA p.K95K ADCK1_ENST00000341211.5_Intron NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 102 extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) CCTTCATCAAGGTGGGCCAGC 0.617000 28 27 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34120941 34120941 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr21:34120941T>C ENST00000331923.4 - 11 1981 c.1792A>G c.(1792-1794)Att>Gtt p.I598V PAXBP1_ENST00000290178.4_Missense_Mutation_p.I598V NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TGTGATTTAATACAGTCAATT 0.358000 50 16 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145726105 145726105 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:145726105G>T ENST00000292539.4 + 8 1785 c.868G>T c.(868-870)Gac>Tac p.D290Y PPP1R16A_ENST00000435887.1_Missense_Mutation_p.D290Y Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 290 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GCACGGGGCCGACCTGAACGC 0.721000 9 8 3.09899e-07 3.17353e-07 1 1 0 PRPF18 8559 broad.mit.edu 37 10 13652044 13652044 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:13652044G>C ENST00000378572.3 + 5 529 c.369G>C c.(367-369)ttG>ttC p.L123F NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 123 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 CTTAGGGATTGAGGAATGATT 0.383000 23 62 0 0 1 0 0 C11orf65 160140 broad.mit.edu 37 11 108277655 108277655 + Silent SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:108277655A>G ENST00000525729.1 - 3 186 c.117T>C c.(115-117)ttT>ttC p.F39F C11orf65_ENST00000393084.1_Silent_p.F88F|C11orf65_ENST00000529391.1_Silent_p.F88F Q8NCR3 CK065_HUMAN chromosome 11 open reading frame 65 88 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) GTCTGTGAGTAAAAATCTTAT 0.313000 25 32 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215259819 215259819 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:215259819C>T ENST00000444842.2 + 2 305 c.155C>T c.(154-156)aCg>aTg p.T52M KCNK2_ENST00000391894.2_Missense_Mutation_p.T37M|KCNK2_ENST00000391895.2_Missense_Mutation_p.T48M NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 52 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GAGAGTGACACGACCATTAAT 0.512000 15 32 0 0 1 0 0 TRIM50 135892 broad.mit.edu 37 7 72738632 72738632 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:72738632G>A ENST00000333149.2 - 2 354 c.154C>T c.(154-156)Cgc>Tgc p.R52C TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Missense_Mutation_p.R52C NM_178125.2 NP_835226.2 Q86XT4 TRI50_HUMAN tripartite motif containing 50 52 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 ACGGGGCAGCGCAGCTCGGCA 0.677000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 44 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30881858 30881858 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:30881858C>T ENST00000251071.5 - 8 2256 c.1506G>A c.(1504-1506)caG>caA p.Q502Q CAPRIN2_ENST00000417045.1_Silent_p.Q502Q|CAPRIN2_ENST00000298892.5_Silent_p.Q502Q|CAPRIN2_ENST00000395805.2_Silent_p.Q502Q|CAPRIN2_ENST00000308433.5_Silent_p.Q169Q|CAPRIN2_ENST00000538387.1_5'UTR NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 502 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CTTGTTCTTTCTGCAGCTGAA 0.473000 55 75 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37381683 37381683 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:37381683C>T ENST00000333461.5 - 1 442 c.73G>A c.(73-75)Gcc>Acc p.A25T NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 25 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 TCCTGGAGGGCGGAGACGGTC 0.716000 11 10 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28374103 28374103 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:28374103G>C ENST00000532254.1 - 1 726 c.41C>G c.(40-42)tCg>tGg p.S14W NM_001282524.1 NP_001269453.1 nuclear pore complex interacting protein family, member B6 CTGGTCATGCGACAGGAACTG 0.483000 3 16 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144995372 144995372 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144995372C>G ENST00000322810.4 - 32 9197 c.9028G>C c.(9028-9030)Gag>Cag p.E3010Q PLEC_ENST00000398774.2_Missense_Mutation_p.E2841Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2873Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2896Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2877Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2851Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2873Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2859Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2900Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3010 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCGGGGTCCTCCACGCAGCGC 0.647000 41 76 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19575010 19575010 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:19575010G>T ENST00000328405.2 + 16 3009 c.2743G>T c.(2743-2745)Gtg>Ttg p.V915L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 915 integral to membrane two-component sensor activity p.V915L(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CAGCACCTCTGTGTGTCCCTC 0.522000 57 22 2.47907e-22 2.61047e-22 1 1 0 SUPT5H 6829 broad.mit.edu 37 19 39936594 39936594 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:39936594G>A ENST00000599117.1 + 3 431 c.64G>A c.(64-66)Gag>Aag p.E22K SUPT5H_ENST00000598725.1_Missense_Mutation_p.E22K|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E22K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E22K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E22K O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 22 Glu-rich. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGTGACGGCGAGGAGGCCGA 0.657000 6 16 0 0 1 0 0 GNS 2799 broad.mit.edu 37 12 65130795 65130795 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:65130795G>C ENST00000258145.3 - 9 1257 c.1087C>G c.(1087-1089)Cag>Gag p.Q363E GNS_ENST00000418919.2_Missense_Mutation_p.Q307E|GNS_ENST00000543646.1_Missense_Mutation_p.Q395E|GNS_ENST00000542058.1_Missense_Mutation_p.Q343E NM_002076.3 NP_002067.1 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase 363 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4) 15 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) TTGCTTGTCTGATTTGGTTTG 0.453000 14 27 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5372147 5372147 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:5372147C>T ENST00000225296.3 - 1 233 c.33G>A c.(31-33)aaG>aaA p.K11K DHX33_ENST00000433302.3_Silent_p.K11K NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 11 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCCGGAATCTCTTGGCCGGCG 0.721000 2 0 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16458679 16458679 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:16458679G>A ENST00000308683.2 - 4 1235 c.1109C>T c.(1108-1110)tCa>tTa p.S370L NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 370 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GTTCTTTTCTGAGGGCAACTC 0.393000 14 48 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41482260 41482260 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:41482260C>T ENST00000314992.5 - 9 947 c.757G>A c.(757-759)Gct>Act p.A253T EXD1_ENST00000458580.2_Missense_Mutation_p.A311T NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 253 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 AGGTAGGTAGCTTCCAGGGCC 0.463000 37 12 0 0 1 0 0 INO80E 283899 broad.mit.edu 37 16 30012320 30012320 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:30012320C>T ENST00000563197.1 + 5 1372 c.355C>T c.(355-357)Ccc>Tcc p.P119S INO80E_ENST00000304516.7_Missense_Mutation_p.P119S|INO80E_ENST00000567705.1_Missense_Mutation_p.P119S|INO80E_ENST00000567254.1_Missense_Mutation_p.P119S NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 119 Pro-rich. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 AACAGGGTTTCCCCTTCAGGC 0.637000 10 21 0 0 1 0 0 NPBWR1 2831 broad.mit.edu 37 8 53853373 53853373 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:53853373C>T ENST00000331251.3 + 1 2383 c.906C>T c.(904-906)ctC>ctT p.L302L NM_005285.3 NP_005276.2 P48145 NPBW1_HUMAN neuropeptides B/W receptor 1 302 synaptic transmission plasma membrane opioid receptor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2) 17 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) ACAGCTGCCTCAACCCCTTCC 0.652000 12 35 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79434557 79434557 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:79434557C>T ENST00000264895.6 + 65 10465 c.10025C>T c.(10024-10026)tCg>tTg p.S3342L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3337 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATCCACATTTCGGTGCAGATC 0.433000 46 61 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8161479 8161479 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:8161479C>T ENST00000419822.2 - 2 421 c.386G>A c.(385-387)tGa>tAa p.*129* RIC3_ENST00000539720.1_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Intron|RIC3_ENST00000309737.6_Intron Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 0 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) ATTAGATTTTCATTGATGTAA 0.279000 14 12 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61431458 61431458 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:61431458C>T ENST00000398571.2 - 74 9393 c.9317G>A c.(9316-9318)aGc>aAc p.S3106N NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3106 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CCGAATATTGCTTTTCCCTCC 0.408000 25 42 0 0 1 0 0 TTC31 64427 broad.mit.edu 37 2 74718624 74718624 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:74718624C>T ENST00000410003.1 + 8 710 c.701C>T c.(700-702)tCt>tTt p.S234F TTC31_ENST00000442235.2_Missense_Mutation_p.S90F|TTC31_ENST00000233623.5_Missense_Mutation_p.S234F|TTC31_ENST00000463189.1_3'UTR Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 234 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CTGGATCTATCTAGCACTTTT 0.542000 88 183 0 0 1 0 0 TXK 7294 broad.mit.edu 37 4 48096182 48096182 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:48096182C>T ENST00000264316.4 - 8 706 c.621G>A c.(619-621)aaG>aaA p.K207K TXK_ENST00000510457.1_5'UTR NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 207 SH2. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 CTGAGTCATTCTTTTTTATCT 0.403000 22 48 0 0 1 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111643 142111643 + RNA SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:142111643G>A ENST00000390378.1 - 0 92 CTCTCGTTTTGATCAGGTGTG 0.567000 33 66 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135579901 135579901 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chrX:135579901G>A ENST00000535601.1 + 2 480 c.58G>A c.(58-60)Gaa>Aaa p.E20K HTATSF1_ENST00000218364.4_Missense_Mutation_p.E20K NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 20 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) GCGAATGCAAGAATTGTACGG 0.557000 39 14 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58570623 58570623 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:58570623C>T ENST00000401053.4 + 1 17 c.14C>T c.(13-15)tCg>tTg p.S5L ZNF135_ENST00000313434.5_5'UTR|ZNF135_ENST00000439855.2_5'UTR|ZNF135_ENST00000359978.6_Missense_Mutation_p.S5L NM_001164529.1|NM_007134.1 NP_001158001.1|NP_009065.1 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GAGTTAGGCTCGCGCCGGCGC 0.716000 10 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82583410 82583410 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:82583410C>T ENST00000333891.9 - 5 7196 c.6859G>A c.(6859-6861)Gac>Aac p.D2287N PCLO_ENST00000423517.2_Missense_Mutation_p.D2287N NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 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 GAAACAGTGTCAGCAACTGGC 0.393000 43 88 0 0 1 0 0 RAD51C 5889 broad.mit.edu 37 17 56774148 56774148 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:56774148G>A ENST00000337432.4 + 3 570 c.499G>A c.(499-501)Gat>Aat p.D167N RAD51C_ENST00000583539.1_Missense_Mutation_p.D167N|RAD51C_ENST00000487921.1_3'UTR NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 167 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTTTATGGTTGATAGAGTGGT 0.413000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 29 47 0 0 1 0 0 NKX3-2 579 broad.mit.edu 37 4 13543785 13543785 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:13543785C>T ENST00000382438.5 - 2 1469 c.834G>A c.(832-834)aaG>aaA p.K278K NM_001189.3 NP_001180.1 P78367 NKX32_HUMAN NK3 homeobox 2 278 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 CGGCCACCTTCTTGGCGGCGG 0.642000 4 11 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709869 128709869 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:128709869G>A ENST00000392665.2 - 2 414 c.270C>T c.(268-270)ctC>ctT p.L90L KCNJ1_ENST00000392666.1_Silent_p.L90L|KCNJ1_ENST00000324036.3_Silent_p.L90L|KCNJ1_ENST00000440599.2_Silent_p.L90L|KCNJ1_ENST00000392664.2_Silent_p.L109L NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 109 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) GGAATTCCGGGAGGTCTTTGT 0.448000 42 68 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72186109 72186109 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:72186109C>T ENST00000356056.5 - 26 5525 c.5053G>A c.(5053-5055)Gaa>Aaa p.E1685K MYO9A_ENST00000424560.1_Missense_Mutation_p.E1685K|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1666K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1685K|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1685 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTTAAGGCTTCTTTGCTGACA 0.378000 11 10 0 0 1 0 0 ABI1 10006 broad.mit.edu 37 10 27048155 27048155 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:27048155G>A ENST00000355394.4 - 9 1140 c.917C>T c.(916-918)tCa>tTa p.S306L ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376139.2_Missense_Mutation_p.S273L|ABI1_ENST00000376142.2_Missense_Mutation_p.S305L|ABI1_ENST00000376140.3_Missense_Mutation_p.S278L|ABI1_ENST00000376160.1_Missense_Mutation_p.S272L|ABI1_ENST00000359188.4_Missense_Mutation_p.S277L|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376170.4_Missense_Mutation_p.S277L|ABI1_ENST00000376134.3_Missense_Mutation_p.S279L|ABI1_ENST00000346832.5_Missense_Mutation_p.S322L|ABI1_ENST00000376138.3_Missense_Mutation_p.S278L|ABI1_ENST00000376166.1_Missense_Mutation_p.S272L Q8IZP0 ABI1_HUMAN abl-interactor 1 305 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACCAGGAGCTGAGCCCGGGGC 0.498000 14 47 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111951193 111951193 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:111951193G>A ENST00000377617.3 - 11 2167 c.2006C>T c.(2005-2007)tCg>tTg p.S669L ATXN2_ENST00000535949.1_Missense_Mutation_p.S380L|ATXN2_ENST00000608853.1_Missense_Mutation_p.S509L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S404L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S404L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S669L NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 669 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CGTTCCCCCCGAGGGACTGGT 0.512000 19 32 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169648584 169648584 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:169648584G>A ENST00000366787.3 - 4 786 c.537C>T c.(535-537)ttC>ttT p.F179F NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 179 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGTGCTCGTAGAAGGGCTCGT 0.617000 39 36 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122637962 122637962 + Missense_Mutation SNP C C T rs112914841 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:122637962C>T ENST00000263461.6 + 12 1900 c.1654C>T c.(1654-1656)Ctt>Ttt p.L552F NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 552 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 ACTGGTTGATCTTCCAACAGG 0.333000 16 28 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23400346 23400346 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:23400346G>A ENST00000307149.5 - 17 2393 c.2208C>T c.(2206-2208)atC>atT p.I736I NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 736 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GTAGCGTCACGATGTGCTGGA 0.617000 16 17 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57637672 57637672 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:57637672C>T ENST00000332782.2 - 12 1219 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K STAC3_ENST00000546246.2_Missense_Mutation_p.E154K|STAC3_ENST00000554578.1_Missense_Mutation_p.E301K NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 340 SH3 2. intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 CCGCCCGCTTCGTCTCCTTTC 0.562000 OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 16 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114246790 114246790 + Splice_Site SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:114246790C>T ENST00000369604.1 - 15 2287 c.e15-1 PHTF1_ENST00000369596.2_Splice_Site|PHTF1_ENST00000474926.1_Splice_Site|PHTF1_ENST00000393357.2_Splice_Site|PHTF1_ENST00000357783.2_Splice_Site|PHTF1_ENST00000369600.1_Splice_Site|PHTF1_ENST00000369598.1_Splice_Site Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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) GCCCCCGTCTCTGTGGAGTGA 0.428000 11 22 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43912159 43912159 + Missense_Mutation SNP G G C rs147754108 by1000genomes TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:43912159G>C ENST00000339069.5 + 13 1469 c.838G>C c.(838-840)Gag>Cag p.E280Q CRHR1_ENST00000314537.5_3'UTR|CRHR1_ENST00000398285.3_3'UTR P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 0 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) AGCCCCCAAAGAGCTGTGGCT 0.632000 5 11 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76107307 76107307 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:76107307G>A ENST00000238667.4 + 7 1601 c.1245G>A c.(1243-1245)atG>atA p.M415I FLVCR2_ENST00000555027.1_Missense_Mutation_p.M130I|FLVCR2_ENST00000539311.1_Missense_Mutation_p.M210I|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 415 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) GCTTCTTTATGACTGGCTATC 0.522000 14 20 0 0 1 0 0 ZNF557 79230 broad.mit.edu 37 19 7075710 7075710 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:7075710G>A ENST00000414706.1 + 4 549 c.76G>A c.(76-78)Gag>Aag p.E26K ZNF557_ENST00000252840.6_Missense_Mutation_p.E26K|ZNF557_ENST00000439035.2_Missense_Mutation_p.E19K NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) AGGACACACAGAGGGCGGAGA 0.522000 30 16 0 0 1 0 0 TERF2 7014 broad.mit.edu 37 16 69419340 69419340 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:69419340C>T ENST00000254942.3 - 2 445 c.429G>A c.(427-429)ctG>ctA p.L143L TERF2_ENST00000603068.1_Silent_p.L101L|TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Silent_p.L143L NM_005652.3 NP_005643.2 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 101 TRFH dimerization. age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) GCATAACCCGCAGCAATCGGG 0.532000 20 42 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69687308 69687308 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:69687308C>T ENST00000349945.1 + 6 2252 c.700C>T c.(700-702)Cag>Tag p.Q234* NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q234*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q328*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q234*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q328*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q310* NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 310 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGATAGAACACAGCAAGGCTT 0.398000 14 37 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247024465 247024465 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:247024465C>T ENST00000366508.1 - 29 4109 c.3973G>A c.(3973-3975)Gaa>Aaa p.E1325K AHCTF1_ENST00000391829.2_Missense_Mutation_p.E1290K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1299K|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1290 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) TCATCCATTTCTTGATGCTCC 0.423000 15 30 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129826498 129826498 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:129826498C>T ENST00000421865.2 + 61 8750 c.8701C>T c.(8701-8703)Cca>Tca p.P2901S NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2901 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAGAATTGGTCCAGTAAATAT 0.383000 28 10 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89386642 89386642 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:89386642G>A ENST00000439576.2 + 6 1188 c.814G>A c.(814-816)Gag>Aag p.E272K ACAN_ENST00000561243.1_Missense_Mutation_p.E272K|ACAN_ENST00000559004.1_Missense_Mutation_p.E272K|ACAN_ENST00000558207.1_Missense_Mutation_p.E272K|ACAN_ENST00000352105.7_Missense_Mutation_p.E272K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 272 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) AGCAGCCAATGAGTGCCGGCG 0.642000 12 11 0 0 1 0 0 INCA1 388324 broad.mit.edu 37 17 4892128 4892128 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:4892128C>G ENST00000396829.2 - 8 1073 c.507G>C c.(505-507)gaG>gaC p.E169D INCA1_ENST00000575780.1_Missense_Mutation_p.E154D|INCA1_ENST00000574617.1_Missense_Mutation_p.E169D|INCA1_ENST00000576820.1_Missense_Mutation_p.E169D|INCA1_ENST00000355025.3_Missense_Mutation_p.E154D NM_001167986.1 NP_001161458.1 Q0VD86 INCA1_HUMAN inhibitor of CDK, cyclin A1 interacting protein 1 169 nucleus upper_aerodigestive_tract(1) 1 AGGTTGCTCTCTCCTCTTCCA 0.582000 19 10 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72846043 72846043 + Silent SNP G G A rs147077649 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:72846043G>A ENST00000293190.5 - 7 1667 c.1521C>T c.(1519-1521)atC>atT p.I507I GRIN2C_ENST00000347612.4_Silent_p.I507I NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 507 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TGAGGGAGCCGATGGCCATGT 0.607000 30 50 0 0 1 0 0 TUT1 64852 broad.mit.edu 37 11 62342673 62342673 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:62342673C>T ENST00000476907.1 - 9 3209 c.2518G>A c.(2518-2520)Gac>Aac p.D840N MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.D878N Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 snRNA-specific 840 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGCATTCGGTCAGCCGGGGAG 0.567000 28 46 0 0 1 0 0 TTC33 23548 broad.mit.edu 37 5 40716332 40716332 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:40716332G>A ENST00000337702.4 - 5 856 c.704C>T c.(703-705)tCt>tTt p.S235F TTC33_ENST00000503936.2_5'UTR NM_012382.2 NP_036514.1 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 235 binding NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1) 11 CCCAGAAGCAGACACAATAAC 0.428000 24 42 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668818 53668818 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:53668818G>A ENST00000600412.1 - 2 845 c.730C>T c.(730-732)Cga>Tga p.R244* ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R309* Q9H7R5 ZN665_HUMAN zinc finger protein 665 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGAATTCTTCGATGACTTGCA 0.428000 59 136 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3824148 3824148 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:3824148G>A ENST00000497571.1 - 2 621 c.361C>T c.(361-363)Ccc>Tcc p.P121S KLF6_ENST00000542957.1_Missense_Mutation_p.P121S|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Missense_Mutation_p.P121S NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 121 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) TTGGCCGTGGGAGAAAGTTCC 0.532000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 93 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394514 233394514 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:233394514C>T ENST00000258229.9 - 5 1328 c.1094G>A c.(1093-1095)gGa>gAa p.G365E PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CAGTGGGTCTCCGGGTTGAGA 0.517000 30 65 0 0 1 0 0 DTWD2 285605 broad.mit.edu 37 5 118274974 118274974 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:118274974C>T ENST00000304058.4 - 3 193 c.123G>A c.(121-123)gtG>gtA p.V41V DTWD2_ENST00000510708.1_Silent_p.V107V|DTWD2_ENST00000515439.3_Intron Q8NBA8 DTWD2_HUMAN DTW domain containing 2 107 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) CTGTACGCAACACTTTGTTTT 0.333000 11 4 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8722214 8722214 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:8722214G>C ENST00000378641.3 + 23 2992 c.2517G>C c.(2515-2517)aaG>aaC p.K839N PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.K839N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K839N NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 839 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AAGAAGTAAAGAAAGAGGTGA 0.398000 5 20 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68238913 68238913 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:68238913G>A ENST00000347230.4 - 28 5473 c.5335C>T c.(5335-5337)Cat>Tat p.H1779Y ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H1779Y NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1779 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTAGGGGAATGTATACTGGAG 0.498000 8 3 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100019151 100019151 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:100019151T>C ENST00000258428.3 - 21 3725 c.3497A>G c.(3496-3498)aAt>aGt p.N1166S REV1_ENST00000393445.3_Missense_Mutation_p.N1165S NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 1166 Protein interaction domain; mediates interaction with DNA polymerase zeta. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTTCACATCATTGAATTCAAC 0.488000 Direct reversal of damage 28 47 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140069557 140069557 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:140069557G>A ENST00000323927.2 - 13 2310 c.2306C>T c.(2305-2307)tCa>tTa p.S769L ANAPC2_ENST00000487917.1_5'UTR NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 769 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) ACGATCCAGTGAGAGGCTCTC 0.622000 3 11 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467275 10467275 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:10467275C>T ENST00000382483.3 - 4 4556 c.4333G>A c.(4333-4335)Gag>Aag p.E1445K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1445 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) TCTGTGCCCTCTGCGGGGCAC 0.632000 99 126 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144917918 144917918 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:144917918G>A ENST00000529945.1 - 7 2296 c.1857C>T c.(1855-1857)ctC>ctT p.L619L PDE4DIP_ENST00000530740.1_Silent_p.L593L|PDE4DIP_ENST00000313431.9_Silent_p.L619L|PDE4DIP_ENST00000369354.3_Silent_p.L456L|PDE4DIP_ENST00000369351.3_Silent_p.L456L|PDE4DIP_ENST00000369349.3_Silent_p.L456L|PDE4DIP_ENST00000369359.4_Silent_p.L593L|PDE4DIP_ENST00000369356.4_Silent_p.L456L|PDE4DIP_ENST00000313382.9_Silent_p.L522L|PDE4DIP_ENST00000479408.2_Silent_p.L243L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 456 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) GATACTGTAGGAGCTCCCGAA 0.348000 T PDGFRB MPD 51 254 0 0 1 0 0 TUFM 7284 broad.mit.edu 37 16 28857543 28857543 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:28857543G>A ENST00000313511.3 - 1 186 c.48C>T c.(46-48)ttC>ttT p.F16F NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 13 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 ACTCACCGCTGAAGTGGGGCG 0.687000 3 6 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28858777 28858777 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:28858777C>T ENST00000357727.2 + 11 1798 c.1408C>T c.(1408-1410)Cag>Tag p.Q470* CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q463*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q437*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q437*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q331* NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 470 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AGCTTGCTCCCAGCAACAAGT 0.502000 46 81 0 0 1 0 0 C6orf89 221477 broad.mit.edu 37 6 36882094 36882094 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:36882094G>A ENST00000480824.2 + 5 732 c.438G>A c.(436-438)caG>caA p.Q146Q C6orf89_ENST00000355190.3_Silent_p.Q153Q|C6orf89_ENST00000510325.2_Silent_p.Q40Q|C6orf89_ENST00000373685.1_Silent_p.Q146Q|C6orf89_ENST00000359359.2_Silent_p.Q40Q Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 146 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACTGTGAGCAGAATGAGTCAG 0.517000 21 21 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31782285 31782285 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:31782285C>T ENST00000543095.2 - 28 4514 c.4330G>A c.(4330-4332)Gac>Aac p.D1444N HEATR5A_ENST00000439348.1_Missense_Mutation_p.D1438N|HEATR5A_ENST00000389961.3_Missense_Mutation_p.D1438N|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D1151N NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1438 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TAGACTAAGTCAAGCAGTCCA 0.428000 37 30 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36726373 36726373 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:36726373C>T ENST00000431169.1 - 2 454 c.154G>A c.(154-156)Gaa>Aaa p.E52K AOAH_ENST00000258749.5_Missense_Mutation_p.E52K|AOAH_ENST00000535891.1_Intron NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 52 Saposin B-type. inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GCAAGCTGTTCTATTACAGAC 0.512000 14 33 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244139 46244139 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:46244139C>T ENST00000334344.6 + 15 2405 c.2233C>T c.(2233-2235)Cag>Tag p.Q745* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q355*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q596* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 745 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTCTGTTGTTCAGAATCATAG 0.443000 """N, S, F""" hepatocellular carcinoma 41 51 0 0 1 0 0 NAMPT 10135 broad.mit.edu 37 7 105909656 105909656 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:105909656C>T ENST00000222553.3 - 5 857 c.550G>A c.(550-552)Gat>Aat p.D184N NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Missense_Mutation_p.D184N NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 184 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 TCCAGACCATCTAAGTTACCA 0.368000 11 28 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19619564 19619564 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:19619564G>C ENST00000438132.3 + 10 1164 c.1116G>C c.(1114-1116)aaG>aaC p.K372N C16orf62_ENST00000542263.1_Missense_Mutation_p.K372N|C16orf62_ENST00000251143.5_Missense_Mutation_p.K283N|C16orf62_ENST00000448695.1_Missense_Mutation_p.K133N|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000543152.1_Missense_Mutation_p.K32N|C16orf62_ENST00000417362.2_Missense_Mutation_p.K283N NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 283 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GGTTTTTCAAGATTGCCTCCA 0.353000 23 52 0 0 1 0 0 WDR26 80232 broad.mit.edu 37 1 224581534 224581534 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:224581534A>C ENST00000414423.2 - 13 2149 c.1956T>G c.(1954-1956)atT>atG p.I652M WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.I505M NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 652 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) TATTACCTTCAATATTCTGGT 0.388000 25 41 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55083551 55083551 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:55083551G>A ENST00000262288.3 + 13 1369 c.1314G>A c.(1312-1314)ggG>ggA p.G438G NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 438 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) CTGACCAAGGGGACATGGCTC 0.522000 25 56 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244406 46244406 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:46244406C>T ENST00000334344.6 + 15 2672 c.2500C>T c.(2500-2502)Caa>Taa p.Q834* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q444*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q685* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 834 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AACTTCATCTCAACAGACATC 0.433000 """N, S, F""" hepatocellular carcinoma 36 64 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17542916 17542916 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:17542916C>T ENST00000005226.7 - 13 1061 c.1062G>A c.(1060-1062)gaG>gaA p.E354E USH1C_ENST00000527720.1_Silent_p.E323E|USH1C_ENST00000527020.1_Silent_p.E335E|USH1C_ENST00000318024.4_Silent_p.E354E NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 354 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TCCGGTATCTCTCATTTTCCT 0.507000 5 91 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89654466 89654466 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:89654466C>T ENST00000355754.6 - 8 1306 c.1209G>A c.(1207-1209)gaG>gaA p.E403E NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 403 IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889). cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) CCTTCTTTTTCTCTATGGTGT 0.448000 58 91 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9888112 9888112 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:9888112G>A ENST00000357775.5 + 2 1670 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K TXNDC2_ENST00000306084.6_Missense_Mutation_p.E546K|TXNDC2_ENST00000536353.2_3'UTR NM_032243.5 NP_115619.4 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) Thioredoxin. 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 GGAAAAACTTGAAGCAGTCAT 0.378000 11 21 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228723 204228723 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:204228723C>G ENST00000272203.3 - 8 986 c.670G>C c.(670-672)Gag>Cag p.E224Q PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E244Q NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 224 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCTGGCCTCTCAGGCCTTCTC 0.652000 19 56 0 0 1 0 0 METTL25 84190 broad.mit.edu 37 12 82752565 82752565 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:82752565C>T ENST00000248306.3 + 1 290 c.221C>T c.(220-222)tCa>tTa p.S74L METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR|CCDC59_ENST00000548126.1_5'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 GCCCTGCCCTCAGAGACGCGC 0.662000 OREG0022008 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 38 0 0 1 0 0 TRIM14 9830 broad.mit.edu 37 9 100850218 100850218 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:100850218G>T ENST00000341469.2 - 6 872 c.863C>A c.(862-864)aCg>aAg p.T288K TRIM14_ENST00000342043.3_Missense_Mutation_p.T288K|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000375098.3_Missense_Mutation_p.T288K|TRIM14_ENST00000538344.1_Missense_Mutation_p.T69K NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 288 B30.2/SPRY. cytoplasm|intracellular zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) GCAGCGCACCGTCAGGCGATC 0.736000 3 8 0.115264 0.115264 1 1 0 NPFFR1 64106 broad.mit.edu 37 10 72026099 72026099 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:72026099C>T ENST00000277942.6 - 2 55 c.56G>A c.(55-57)gGg>gAg p.G19E NM_022146.4 NP_071429.1 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 integral to membrane|plasma membrane neuropeptide receptor activity endometrium(2)|lung(1) 3 AGTGTTAGTCCCATTCTGACT 0.552000 5 21 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136076567 136076567 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:136076567C>G ENST00000383202.2 - 28 3316 c.3060G>C c.(3058-3060)aaG>aaC p.K1020N STAG1_ENST00000236698.5_Missense_Mutation_p.K1020N|STAG1_ENST00000434713.2_Missense_Mutation_p.K760N|STAG1_ENST00000536929.1_Missense_Mutation_p.K604N NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 1020 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 CTTACACTGTCTTTTTGTCCT 0.294000 18 34 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165551902 165551902 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:165551902G>A ENST00000375458.2 - 11 2221 c.2000C>T c.(1999-2001)tCa>tTa p.S667L COBLL1_ENST00000194871.6_Missense_Mutation_p.S772L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S705L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S743L|COBLL1_ENST00000409184.3_Missense_Mutation_p.S705L NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 743 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CGGATCTTCTGAATGTATAAT 0.373000 58 104 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 29323103 29323103 + Translation_Start_Site SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:29323103A>T ENST00000434693.2 + 0 631 RBMS3_ENST00000445033.1_De_novo_Start_OutOfFrame|RBMS3_ENST00000383767.2_De_novo_Start_OutOfFrame|RBMS3-AS3_ENST00000413430.1_RNA|RBMS3_ENST00000396583.3_De_novo_Start_OutOfFrame|RBMS3_ENST00000452462.1_De_novo_Start_OutOfFrame|RBMS3_ENST00000273139.9_De_novo_Start_OutOfFrame|RBMS3_ENST00000383766.2_De_novo_Start_OutOfFrame NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GTGGTTTAAGAGGAAGCTCGG 0.483000 25 10 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28714075 28714075 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:28714075C>T ENST00000257197.3 - 13 2156 c.1895G>A c.(1894-1896)cGt>cAt p.R632H RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.R632H NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 632 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTGCCGTTGACGAAGAATGGC 0.348000 31 30 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179993589 179993589 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:179993589G>A ENST00000367607.3 + 14 3840 c.3422G>A c.(3421-3423)aGa>aAa p.R1141K NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1141 Ser-rich. 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 CATTCTAACAGAAAGTCTGCC 0.413000 21 27 0 0 1 0 0 RRS1 23212 broad.mit.edu 37 8 67342183 67342183 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:67342183C>T ENST00000320270.2 + 1 921 c.817C>T c.(817-819)Cgt>Tgt p.R273C NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 273 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GGAGCTGCTTCGTGTCATGAA 0.557000 14 25 0 0 1 0 0 DDAH2 23564 broad.mit.edu 37 6 31695035 31695035 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:31695035G>A ENST00000375789.2 - 6 1467 c.837C>T c.(835-837)ctC>ctT p.L279L DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375787.2_Silent_p.L279L|DDAH2_ENST00000375792.3_Silent_p.L279L O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 279 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 11 L-Citrulline(DB00155) GGCGTGTGCTGAGCACCAAGC 0.592000 50 53 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91806270 91806270 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:91806270G>A ENST00000389857.6 - 7 668 c.582C>T c.(580-582)ctC>ctT p.L194L NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 194 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TCCGCAGGTGGAGCACCATGC 0.662000 6 2 0 0 1 0 0 MRPL30 51263 broad.mit.edu 37 2 99804704 99804704 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:99804704C>T ENST00000338148.3 + 3 314 c.116C>T c.(115-117)tCa>tTa p.S39L MRPL30_ENST00000409145.1_Missense_Mutation_p.S39L|MRPL30_ENST00000465432.1_Intron|C2orf15_ENST00000512183.2_Missense_Mutation_p.S39L|MRPL30_ENST00000410042.1_Missense_Mutation_p.S39L NM_145212.3 NP_660213.1 Q8TCC3 RM30_HUMAN mitochondrial ribosomal protein L30 39 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 TTCACCAGATCAAGAATTCCA 0.279000 4 8 0 0 1 0 0 CARNS1 57571 broad.mit.edu 37 11 67190990 67190990 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:67190990G>C ENST00000445895.2 + 9 1885 c.1771G>C c.(1771-1773)Gat>Cat p.D591H CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000531040.1_Missense_Mutation_p.D565H|CARNS1_ENST00000423745.2_Missense_Mutation_p.D468H|CARNS1_ENST00000307823.3_Missense_Mutation_p.D468H A5YM72 CRNS1_HUMAN carnosine synthase 1 468 ATP-grasp. carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7) 11 CCTCAAGCTAGATGGCTGCTT 0.627000 10 15 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808004 18808004 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:18808004G>A ENST00000400664.1 + 1 581 c.529G>A c.(529-531)Gac>Aac p.D177N NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 177 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGCAGCAGCCGACGGCAGCTG 0.607000 11 30 0 0 1 0 0 SRP19 6728 broad.mit.edu 37 5 112200214 112200214 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:112200214G>A ENST00000505459.1 + 3 333 c.178G>A c.(178-180)Gta>Ata p.V60I CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000515463.1_Silent_p.T34T|SRP19_ENST00000282999.3_Missense_Mutation_p.V60I|CTC-487M23.8_ENST00000512790.1_3'UTR NM_001204193.1|NM_003135.2 NP_001191122.1|NP_003126.1 P09132 SRP19_HUMAN signal recognition particle 19kDa 60 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding breast(1)|cervix(1)|large_intestine(1) 3 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TGGACTTAACGTATTTCTTGA 0.323000 20 21 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84350762 84350762 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:84350762G>A ENST00000295488.3 - 12 2595 c.2433C>T c.(2431-2433)ctC>ctT p.L811L HELQ_ENST00000510985.1_Silent_p.L744L NM_133636.2 NP_598375 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 811 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTTTTTGTAGGAGTCCTTTTT 0.328000 Other identified genes with known or suspected DNA repair function 20 32 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22826363 22826363 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:22826363C>T ENST00000261374.3 + 1 866 c.432C>T c.(430-432)ggC>ggT p.G144G NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 144 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GGGCCTTGGGCACGGAACCCC 0.647000 10 16 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49052780 49052780 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:49052780C>T ENST00000226432.4 + 15 2118 c.1935C>T c.(1933-1935)atC>atT p.I645I CWH43_ENST00000513409.1_Silent_p.I618I NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 645 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AATTTAGGATCCCTGATGACC 0.393000 22 41 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25038496 25038496 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:25038496G>A ENST00000323482.4 - 1 322 c.243C>T c.(241-243)ctC>ctT p.L81L ACSS1_ENST00000376726.3_Silent_p.L81L|ACSS1_ENST00000432802.2_Silent_p.L81L NM_001252675.1|NM_032501.3 NP_001239604.1|NP_115890.2 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 81 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) TGTCCCACACGAGAGTGTCCC 0.657000 18 31 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58621779 58621779 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:58621779G>A ENST00000317147.5 - 4 546 c.214C>T c.(214-216)Cag>Tag p.Q72* CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q72*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q72* NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 72 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ATCAGAAACTGAGTCTTTAAA 0.353000 20 35 0 0 1 0 0 SFPQ 6421 broad.mit.edu 37 1 35657035 35657035 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:35657035G>A ENST00000357214.5 - 2 1022 c.924C>T c.(922-924)atC>atT p.I308I NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 308 RRM 1. alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CATCCTCCGTGATATCAGCAG 0.403000 T TFE3 papillary renal cell 15 16 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115815887 115815887 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:115815887G>A ENST00000343348.6 - 12 1968 c.1181C>T c.(1180-1182)aCg>aTg p.T394M SEMA6A_ENST00000510263.1_Missense_Mutation_p.T394M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T394M|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA NM_020796.3 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 394 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GAGCGGGTGCGTCTTGATGAA 0.498000 4 52 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27346359 27346359 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:27346359C>T ENST00000429845.2 - 13 1269 c.907G>A c.(907-909)Gac>Aac p.D303N NEK10_ENST00000341435.5_Missense_Mutation_p.D303N Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 303 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTCAAGTGGTCAGAGTGGAGC 0.542000 19 18 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130694262 130694262 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:130694262G>A ENST00000510168.1 + 18 2050 c.1500G>A c.(1498-1500)ttG>ttA p.L500L ATP2C1_ENST00000533801.2_Silent_p.L495L|ATP2C1_ENST00000507488.2_Silent_p.L484L|ATP2C1_ENST00000428331.2_Silent_p.L500L|ATP2C1_ENST00000504381.1_Silent_p.L445L|ATP2C1_ENST00000393221.4_Silent_p.L534L|ATP2C1_ENST00000513801.1_Silent_p.L484L|ATP2C1_ENST00000504948.1_Silent_p.L484L|ATP2C1_ENST00000508532.1_Silent_p.L500L|ATP2C1_ENST00000505330.1_Silent_p.L484L|ATP2C1_ENST00000328560.8_Silent_p.L500L|ATP2C1_ENST00000359644.3_Silent_p.L500L|ATP2C1_ENST00000422190.2_Silent_p.L500L P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 500 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) GGCAGACCTTGACACTTACTC 0.463000 Hailey-Hailey disease 25 33 0 0 1 0 0 GTF2E2 2961 broad.mit.edu 37 8 30464631 30464631 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:30464631C>T ENST00000355904.4 - 6 868 c.586G>A c.(586-588)Gat>Aat p.D196N GTF2E2_ENST00000522833.1_5'UTR NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 196 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) TTCTTCTTATCGGGACGATTT 0.308000 23 16 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29054237 29054237 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr18:29054237C>T ENST00000257189.4 + 15 2338 c.2255C>T c.(2254-2256)gCc>gTc p.A752V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 752 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTCGGAGCAGCCACTGGAGTT 0.537000 41 29 0 0 1 0 0 SLC38A9 153129 broad.mit.edu 37 5 54929659 54929659 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:54929659C>T ENST00000396865.2 - 14 1944 c.1353G>A c.(1351-1353)atG>atA p.M451I SLC38A9_ENST00000512595.1_Missense_Mutation_p.M388I|SLC38A9_ENST00000515629.1_Missense_Mutation_p.M388I|SLC38A9_ENST00000318672.3_Missense_Mutation_p.M451I|SLC38A9_ENST00000416547.2_Missense_Mutation_p.M327I|SLC38A9_ENST00000539768.1_3'UTR NM_173514.3 NP_775785.2 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 451 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) ATACAGTCATCATCTGGAACA 0.448000 15 25 0 0 1 0 0 CARS2 79587 broad.mit.edu 37 13 111357910 111357910 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr13:111357910C>T ENST00000257347.4 - 2 296 c.233G>A c.(232-234)tGt>tAt p.C78Y CARS2_ENST00000535398.1_Intron NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 78 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) AGTTGGTCCACAGCTATACCT 0.353000 12 29 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74453627 74453627 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:74453627G>A ENST00000307439.5 - 5 606 c.312C>T c.(310-312)gaC>gaT p.D104D RASSF6_ENST00000342081.3_Silent_p.D136D|RASSF6_ENST00000395777.2_Silent_p.D104D|RASSF6_ENST00000335049.5_Silent_p.D92D NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 136 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GATAGAGATCGTCAAATTCCC 0.383000 19 42 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97779539 97779539 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:97779539C>T ENST00000420699.2 + 1 307 c.63C>T c.(61-63)ttC>ttT p.F21F ANKRD36_ENST00000461153.2_Silent_p.F21F NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 21 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CGGATGGCTTCGCATTTCCCC 0.512000 21 61 0 0 1 0 0 TM2D1 83941 broad.mit.edu 37 1 62190818 62190818 + Translation_Start_Site SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:62190818C>T ENST00000294613.5 - 0 277 TM2D1_ENST00000371180.2_Missense_Mutation_p.S54N Q9BX74 TM2D1_HUMAN TM2 domain containing 1 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 TTTCTCGCCACTTCCGCTTCC 0.642000 27 37 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38481864 38481864 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:38481864C>T ENST00000263409.4 - 20 3289 c.3127G>A c.(3127-3129)Gac>Aac p.D1043N LIFR_ENST00000453190.2_Missense_Mutation_p.D1043N NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1043 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CTAGGAGAGTCTGGAGACACT 0.403000 T PLAG1 salivary adenoma 49 89 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206422 160206422 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:160206422C>T ENST00000392783.2 - 28 5155 c.4660G>A c.(4660-4662)Gaa>Aaa p.E1554K BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1518K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1520K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1454K NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CTATTCTTTTCAGTCAGCGTT 0.428000 61 115 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228847 204228847 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:204228847C>G ENST00000272203.3 - 8 862 c.546G>C c.(544-546)gaG>gaC p.E182D PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E202D NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 182 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GTGGGACGTTCTCCGAGTCTG 0.627000 12 32 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173953689 173953689 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:173953689C>T ENST00000367696.2 - 3 651 c.300G>A c.(298-300)aaG>aaA p.K100K RC3H1_ENST00000367694.2_Silent_p.K100K|RC3H1_ENST00000258349.4_Silent_p.K100K Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 100 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 CTACACATTTCTTGGCTTCCT 0.383000 12 16 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187466860 187466860 + Missense_Mutation SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:187466860A>T ENST00000261023.3 + 2 572 c.298A>T c.(298-300)Att>Ttt p.I100F ITGAV_ENST00000374907.3_Missense_Mutation_p.I100F|ITGAV_ENST00000433736.2_Missense_Mutation_p.I54F NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 100 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GTGCCAGCCAATTGAATTTGA 0.423000 17 29 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144997295 144997295 + Nonsense_Mutation SNP C C A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:144997295C>A ENST00000322810.4 - 31 7382 c.7213G>T c.(7213-7215)Gag>Tag p.E2405* PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2236*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2268*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2291*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2272*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2246*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2268*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2254*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2295* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2405 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCAGCCTCCTCCTGCAGGAAG 0.642000 9 21 3.07112e-06 3.13422e-06 1 1 0 LDB1 8861 broad.mit.edu 37 10 103869736 103869736 + Nonsense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:103869736C>T ENST00000361198.5 - 7 1105 c.482G>A c.(481-483)tGg>tAg p.W161* LDB1_ENST00000425280.1_Nonsense_Mutation_p.W197* NM_003893.4 NP_003884.1 Q86U70 LDB1_HUMAN LIM domain binding 1 197 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) GCTGAAGTGCCACGTCTTTAT 0.602000 18 38 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132666 52132666 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:52132666C>T ENST00000222107.4 - 3 783 c.645G>A c.(643-645)atG>atA p.M215I SIGLEC5_ENST00000534261.2_Missense_Mutation_p.M215I|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.M215I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.M215I|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.M215I O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 215 Ig-like C2-type 1. M -> V (in dbSNP:rs1807124). cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTTGGCGTTTCATCTGACAGG 0.632000 13 38 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53992675 53992675 + Missense_Mutation SNP G G C rs146004165 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:53992675G>C ENST00000263634.3 - 2 169 c.35C>G c.(34-36)tCt>tGt p.S12C GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.S50C|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Missense_Mutation_p.S47C|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Intron NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 47 intracellular signal transduction TCCAACTGTAGAGCACGTGTC 0.428000 37 76 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121251880 121251880 + Nonsense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:121251880G>T ENST00000264233.5 - 6 1045 c.917C>A c.(916-918)tCa>tAa p.S306* POLQ_ENST00000488282.1_5'UTR NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 306 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AAGTTTCATTGAAGAGTCATA 0.383000 DNA polymerases (catalytic subunits) 13 30 5.50884e-06 5.5933e-06 1 1 0 LONRF1 91694 broad.mit.edu 37 8 12583256 12583256 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr8:12583256C>T ENST00000398246.3 - 11 2212 c.2143G>A c.(2143-2145)Gag>Aag p.E715K LONRF1_ENST00000525024.1_Missense_Mutation_p.E141K|LONRF1_ENST00000533751.1_Missense_Mutation_p.E358K NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 715 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TCCTCCCTCTCGGGCATTGAT 0.393000 22 39 0 0 1 0 0 CCND3 896 broad.mit.edu 37 6 41903779 41903779 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:41903779G>A ENST00000511642.1 - 5 1286 c.535C>T c.(535-537)Cag>Tag p.Q179* CCND3_ENST00000372987.4_Nonsense_Mutation_p.Q210*|CCND3_ENST00000372991.4_Nonsense_Mutation_p.Q260*|CCND3_ENST00000414200.2_Nonsense_Mutation_p.Q188*|CCND3_ENST00000415497.2_Nonsense_Mutation_p.Q64*|CCND3_ENST00000372988.4_Nonsense_Mutation_p.Q179*|CCND3_ENST00000510503.1_Missense_Mutation_p.S133L|CCND3_ENST00000511686.1_5'UTR P30281 CCND3_HUMAN cyclin D3 260 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding p.Q260*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAGCTGGTCTGAGAGGCTTCC 0.627000 T IGH@ MM 6 3 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40049589 40049589 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:40049589G>T ENST00000373233.3 - 31 5863 c.5686C>A c.(5686-5688)Ccc>Acc p.P1896T NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1896 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTAGTAGTGGGCTCCGTGAGA 0.512000 39 42 3.3946e-10 3.50031e-10 1 1 0 YWHAB 7529 broad.mit.edu 37 20 43530229 43530229 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr20:43530229G>A ENST00000372839.3 + 3 329 c.55G>A c.(55-57)Gag>Aag p.E19K YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.E19K NM_003404.3 NP_003395.1 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 19 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1) 12 Myeloproliferative disorder(115;0.0122) TGAGCAGGCTGAGCGATATGA 0.458000 23 24 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27480481 27480481 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:27480481C>T ENST00000263980.3 - 1 920 c.345G>A c.(343-345)atG>atA p.M115I SLC9A1_ENST00000374086.3_Missense_Mutation_p.M115I|SLC9A1_ENST00000545949.1_5'UTR NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 115 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TACCTATCTTCATGAGGCAGG 0.587000 23 50 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273101 162273101 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:162273101G>A ENST00000389554.3 + 1 497 c.180G>A c.(178-180)acG>acA p.T60T NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 60 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GGGGGATGACGAATCAGTCAG 0.498000 31 60 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2115859 2115859 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr9:2115859A>C ENST00000382203.1 + 25 3703 c.3494A>C c.(3493-3495)cAg>cCg p.Q1165P SMARCA2_ENST00000349721.2_Missense_Mutation_p.Q1165P|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Q1165P|SMARCA2_ENST00000382194.1_Missense_Mutation_p.Q1165P P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1165 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CGCATCGGGCAGCAGAACGAG 0.562000 9 8 0 0 1 0 0 ECD 11319 broad.mit.edu 37 10 74899248 74899248 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:74899248G>A ENST00000372979.4 - 11 1446 c.1240C>T c.(1240-1242)Cag>Tag p.Q414* ECD_ENST00000454759.2_Nonsense_Mutation_p.Q371*|ECD_ENST00000430082.2_Nonsense_Mutation_p.Q447* NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 414 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) TCTAACCACTGGTCATCTGAA 0.428000 37 72 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77818388 77818388 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:77818388C>T ENST00000334306.2 - 1 614 c.615G>A c.(613-615)ctG>ctA p.L205L NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 205 Ala-rich. GCAGTACAGCCAGGTTGTTCT 0.731000 4 4 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7542296 7542296 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:7542296G>A ENST00000379802.3 + 1 489 c.148G>A c.(148-150)Gac>Aac p.D50N DSP_ENST00000418664.2_Missense_Mutation_p.D50N NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 50 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CGTGATCACCGACCAGAACTC 0.701000 2 1 0 0 1 0 0 ALKBH2 121642 broad.mit.edu 37 12 109530580 109530580 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:109530580G>A ENST00000429722.2 - 2 375 c.12C>T c.(10-12)ttC>ttT p.F4F ALKBH2_ENST00000440112.2_Silent_p.F4F|ALKBH2_ENST00000343075.3_Silent_p.F4F NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 4 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) CTTTCACCAGGAATCTGTCCA 0.522000 Direct reversal of damage 39 83 0 0 1 0 0 NOM1 64434 broad.mit.edu 37 7 156746908 156746908 + Silent SNP C C T rs114285170 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:156746908C>T ENST00000275820.3 + 3 1239 c.1224C>T c.(1222-1224)tgC>tgT p.C408C NOM1_ENST00000460332.1_3'UTR NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 408 MIF4G. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TGGGTGCCTGCGTCACTGCCT 0.542000 4 45 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100452766 100452766 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:100452766C>T ENST00000279907.7 - 14 2501 c.2289G>A c.(2287-2289)ttG>ttA p.L763L UHRF1BP1L_ENST00000545232.2_Silent_p.L413L NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 763 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TCTTCCGCTTCAATCGGCCAG 0.403000 47 59 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19650526 19650526 + Missense_Mutation SNP G G T rs142743091 TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:19650526G>T ENST00000586018.1 + 2 205 c.103G>T c.(103-105)Ggc>Tgc p.G35C CILP2_ENST00000291495.5_Missense_Mutation_p.G35C Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 35 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GACTGCACTGGGCCTGGAAAG 0.667000 23 62 1.42536e-11 1.47741e-11 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114299688 114299688 + Missense_Mutation SNP G G T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:114299688G>T ENST00000408937.3 + 14 2056 c.1682G>T c.(1681-1683)cGg>cTg p.R561L FOXP2_ENST00000393489.3_Missense_Mutation_p.R444L|FOXP2_ENST00000393494.2_Missense_Mutation_p.R536L|FOXP2_ENST00000393498.2_Missense_Mutation_p.R515L|FOXP2_ENST00000350908.4_Missense_Mutation_p.R536L|FOXP2_ENST00000403559.4_Missense_Mutation_p.R553L|FOXP2_ENST00000393491.3_Missense_Mutation_p.R351L|FOXP2_ENST00000393500.3_3'UTR NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 536 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TGGTTTACACGGACATTTGCT 0.398000 9 78 0.00621372 0.00624515 1 1 0 RRM2 6241 broad.mit.edu 37 2 10269168 10269168 + Splice_Site SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:10269168G>A ENST00000360566.2 + 9 1375 c.1084G>A c.(1084-1086)Gag>Aag p.E362K RRM2_ENST00000304567.5_Splice_Site_p.E302K NM_001165931.1 NP_001159403.1 P31350 RIR2_HUMAN ribonucleotide reductase M2 302 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) TGGTTCCTAGGAGTTCCTCAC 0.438000 37 86 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 192863864 192863864 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:192863864C>T ENST00000392314.1 - 6 998 c.607G>A c.(607-609)Gat>Aat p.D203N AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.D203N|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 203 Kazal-like 2. extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) CATGCATTATCATAAGATTTC 0.363000 29 52 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44876484 44876484 + Missense_Mutation SNP C C G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr15:44876484C>G ENST00000261866.7 - 30 5410 c.5394G>C c.(5392-5394)gaG>gaC p.E1798D SPG11_ENST00000427534.2_Missense_Mutation_p.E1798D|SPG11_ENST00000558319.1_Missense_Mutation_p.E1798D|SPG11_ENST00000535302.2_Missense_Mutation_p.E1798D NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1798 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) AGATCTGCTTCTCCAGCTCCT 0.567000 16 18 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50243401 50243401 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:50243401C>T ENST00000246801.3 - 10 1619 c.1537G>A c.(1537-1539)Gag>Aag p.E513K TSKS_ENST00000358830.3_Missense_Mutation_p.E313K NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 513 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTCAGGGCCTCTGCCCTGACG 0.647000 22 65 0 0 1 0 0 TMBIM6 7009 broad.mit.edu 37 12 50135933 50135933 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr12:50135933C>T ENST00000423828.1 + 1 342 c.14C>T c.(13-15)tCt>tTt p.S5F TMBIM6_ENST00000552699.1_Missense_Mutation_p.S5F|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron NM_001098576.1 NP_001092046.1 P55061 BI1_HUMAN transmembrane BAX inhibitor motif containing 6 0 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 TCACACTCCTCTGTGACACGC 0.692000 4 18 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183267920 183267920 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:183267920G>A ENST00000511685.1 + 3 472 c.349G>A c.(349-351)Gat>Aat p.D117N TENM3_ENST00000406950.2_Missense_Mutation_p.D117N teneurin transmembrane protein 3 TGCAGGGTCAGATGCTGATAC 0.532000 4 6 0 0 1 0 0 UROS 7390 broad.mit.edu 37 10 127486691 127486691 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr10:127486691G>A ENST00000368797.4 - 7 642 c.418C>T c.(418-420)Cta>Tta p.L140L UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368786.1_Silent_p.L140L NM_000375.2 NP_000366.1 P10746 HEM4_HUMAN uroporphyrinogen III synthase 140 heme biosynthetic process|uroporphyrinogen III biosynthetic process cytosol|mitochondrion uroporphyrinogen-III synthase activity endometrium(2)|large_intestine(2)|lung(2)|skin(1) 7 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) CAGGGAAATAGAAGAGGCAGT 0.507000 25 40 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147499895 147499895 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:147499895G>A ENST00000359874.3 + 26 2552 c.2479G>A c.(2479-2481)Gaa>Aaa p.E827K SPINK5_ENST00000256084.7_Missense_Mutation_p.E827K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E827K NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 827 Kazal-like 12. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAGAGGATGAAGACAGGAG 0.393000 7 7 0 0 1 0 0 NPPB 4879 broad.mit.edu 37 1 11918889 11918889 + Translation_Start_Site SNP A A T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:11918889A>T ENST00000376468.3 - 1 99 c.2T>A c.(1-3)aTg>aAg p.M1K NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 1 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) CTGGGGATCCATGTCTCTGGA 0.657000 24 43 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11586880 11586880 + Missense_Mutation SNP A A G TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:11586880A>G ENST00000294484.6 + 13 2924 c.2786A>G c.(2785-2787)cAg>cGg p.Q929R PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q929R NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 929 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ACCAAGGAGCAGCAGCACACC 0.592000 13 40 0 0 1 0 0 LOC728323 728323 broad.mit.edu 37 2 243061183 243061183 + RNA SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:243061183C>T ENST00000456398.1 + 0 531 ATTCAAGATACCCGAAGGTTC 0.358000 4 30 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210558419 210558419 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:210558419G>C ENST00000360351.4 + 7 2031 c.1525G>C c.(1525-1527)Gat>Cat p.D509H MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D505H|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 509 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.D509N(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCAGTTACAGATTCAGCCAT 0.428000 25 26 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70349010 70349010 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:70349010G>A ENST00000338508.4 - 24 2090 c.2091C>T c.(2089-2091)gtC>gtT p.V697V SHANK2_ENST00000449833.2_Silent_p.V108V|SHANK2_ENST00000409530.1_Silent_p.V107V|SHANK2_ENST00000357171.3_Silent_p.V108V|SHANK2_ENST00000423696.2_Silent_p.V317V|SHANK2_ENST00000449116.2_Silent_p.V108V|SHANK2_ENST00000409161.1_Silent_p.V107V Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 317 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCCTGTGGCCGACTTTGACAA 0.582000 8 59 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119456781 119456781 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:119456781G>A ENST00000369429.3 - 6 892 c.883C>T c.(883-885)Cga>Tga p.R295* TBX15_ENST00000207157.3_Nonsense_Mutation_p.R189* Q96SF7 TBX15_HUMAN T-box 15 295 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AAAGGGTTTCGGTCAATTTTT 0.333000 15 23 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1563943 1563943 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:1563943G>A ENST00000357210.4 + 16 2433 c.2217G>A c.(2215-2217)gtG>gtA p.V739V MIB2_ENST00000360522.4_Silent_p.V704V|MIB2_ENST00000504599.1_Silent_p.V695V|MIB2_ENST00000505820.2_Silent_p.V796V|MIB2_ENST00000520777.1_Silent_p.V792V|MIB2_ENST00000518681.1_Silent_p.V731V|MIB2_ENST00000378712.1_Silent_p.V616V|MIB2_ENST00000355826.5_Silent_p.V782V|MIB2_ENST00000378708.1_Silent_p.V645V|MIB2_ENST00000378710.3_Silent_p.V703V NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 739 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGCCCACGTGGGGCTGGTGC 0.697000 3 9 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24521660 24521660 + Silent SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:24521660T>C ENST00000355123.4 - 13 1811 c.1368A>G c.(1366-1368)cgA>cgG p.R456R ITSN2_ENST00000406921.3_Silent_p.R456R|ITSN2_ENST00000361999.3_Silent_p.R456R NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 456 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCGACGTTGTCGTTCAAGTT 0.338000 25 64 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89261279 89261279 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:89261279G>A ENST00000289746.2 + 14 2226 c.2161G>A c.(2161-2163)Gct>Act p.A721T NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 721 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGGCTTGGAGGCTGCAGATAG 0.637000 3 8 0 0 1 0 0 KLC3 147700 broad.mit.edu 37 19 45852790 45852790 + Missense_Mutation SNP G G C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:45852790G>C ENST00000470402.1 + 7 1215 c.1115G>C c.(1114-1116)cGg>cCg p.R372P KLC3_ENST00000391946.2_Missense_Mutation_p.R358P|KLC3_ENST00000585434.1_Missense_Mutation_p.R357P Q6P597 KLC3_HUMAN kinesin light chain 3 358 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CACTATGCCCGGGCCCTGAGC 0.637000 11 60 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81739167 81739167 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr16:81739167T>C ENST00000537098.3 + 19 2227 c.2155T>C c.(2155-2157)Tgc>Cgc p.C719R CMIP_ENST00000539778.2_Missense_Mutation_p.C625R|CMIP_ENST00000398040.4_Missense_Mutation_p.C566R|CMIP_ENST00000566513.1_3'UTR NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 685 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 GCTGAACCTGTGCGAGACCCC 0.637000 6 9 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128630024 128630024 + Nonsense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr7:128630024G>A ENST00000393245.1 - 11 1964 c.1591C>T c.(1591-1593)Cag>Tag p.Q531* TNPO3_ENST00000471234.1_Nonsense_Mutation_p.Q497*|TNPO3_ENST00000482320.1_Nonsense_Mutation_p.Q431*|TNPO3_ENST00000471166.1_Nonsense_Mutation_p.Q531*|TNPO3_ENST00000265388.5_Nonsense_Mutation_p.Q497* NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 497 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CCAAGGAACTGAGGATTTCGA 0.438000 23 50 0 0 1 0 0 C1orf141 400757 broad.mit.edu 37 1 67560923 67560923 + Missense_Mutation SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:67560923G>A ENST00000371007.2 - 7 707 c.598C>T c.(598-600)Cac>Tac p.H200Y C1orf141_ENST00000544837.1_Missense_Mutation_p.H200Y|C1orf141_ENST00000371006.1_Missense_Mutation_p.H200Y NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 200 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 ATTACCATGTGAGAAGTTACT 0.343000 7 15 0 0 1 0 0 TMEM177 80775 broad.mit.edu 37 2 120438762 120438762 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr2:120438762G>A ENST00000424086.1 + 2 806 c.333G>A c.(331-333)ttG>ttA p.L111L TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Silent_p.L111L|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.L111L NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 111 integral to membrane p.L111F(1) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) CCAGTTTCTTGGGAGACCTAG 0.587000 86 167 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27056181 27056191 + Frame_Shift_Del DEL CAGCCATATGG CAGCCATATGG - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:27056181_27056191delCAGCCATATGG ENST00000324856.7 + 2 1548_1558 c.1177_1187delCAGCCATATGG c.(1177-1188)cagccatatggcfs p.QPYG393fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.QPYG393fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.QPYG10fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 393 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 p.Y395*(1)|p.Q393*(1) 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) GATGAGACCTCAGCCATATGGCGGGACTAAC 0.545 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 22 65 --- --- --- --- IFI44L 10964 broad.mit.edu 37 1 79102839 79102840 + Frame_Shift_Ins INS - - A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:79102839_79102840insA ENST00000370751.5 + 6 1178_1179 c.999_1000insA c.(1000-1002)aaafs p.K334fs IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Frame_Shift_Ins_p.K76fs NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 ATCTCTACTCTAAAATGTTGGC 0.342 21 52 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202092266 202092267 + In_Frame_Ins INS - - ACA TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:202092266_202092267insACA ENST00000367282.5 + 1 281_282 c.175_176insACA c.(175-177)tat>tACAat p.59_60insN NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CGTGCAGCAGTATGTGCCTGAG 0.673 14 17 --- --- --- --- PLEKHA6 22874 broad.mit.edu 37 1 204197926 204197926 + Frame_Shift_Del DEL G G - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr1:204197926delG ENST00000272203.3 - 20 3131 c.2815delC c.(2815-2817)ctgfs p.L939fs PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.L959fs NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 939 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCAGGGCTCAGGGGAGTGTCA 0.557 15 43 --- --- --- --- C3orf17 25871 broad.mit.edu 37 3 112724493 112724519 + In_Frame_Del DEL CATGGATGCCTCTAAGATTTTCATGAA CATGGATGCCTCTAAGATTTTCATGAA - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:112724493_112724519delCATGGATGCCTCTAAGATTTTCATGAA ENST00000314400.5 - 9 1759_1785 c.1568_1594delTTCATGAAAATCTTAGAGGCATCCATG c.(1567-1596)attcatgaaaatcttagaggcatccatgaa>aaa p.523_532IHENLRGIHE>K C3orf17_ENST00000393857.2_In_Frame_Del_p.387_396IHENLRGIHE>K|C3orf17_ENST00000383675.2_In_Frame_Del_p.453_462IHENLRGIHE>K NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 523 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 GTTTCATTTTCATGGATGCCTCTAAGATTTTCATGAATCATTTTCTC 0.361 26 73 --- --- --- --- MAGEF1 64110 broad.mit.edu 37 3 184429408 184429414 + Frame_Shift_Del DEL CCAAGGC CCAAGGC - rs6770319 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr3:184429408_184429414delCCAAGGC ENST00000317897.3 - 1 422_428 c.196_202delGCCTTGG c.(196-204)gccttggcafs p.ALA66fs NM_022149.4 NP_071432.2 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 66 A -> S (in Ref. 1; AAG30208, 2; AAG38606 and 3; AAH10056). p.L67*(1) breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) CTGCGCCTTGCCAAGGCTTTGGCCGCC 0.681 33 56 --- --- --- --- LRRC66 339977 broad.mit.edu 37 4 52863983 52863983 + Frame_Shift_Del DEL C C - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr4:52863983delC ENST00000343457.3 - 3 793 c.787delG c.(787-789)gcafs p.A263fs NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 263 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 TGAAAGACTGCCACACTATCA 0.398 9 170 --- --- --- --- PPAP2A 8611 broad.mit.edu 37 5 54721068 54721070 + In_Frame_Del DEL GTT GTT - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:54721068_54721070delGTT ENST00000307259.8 - 6 1239_1241 c.819_821delAAC c.(817-822)acaact>act p.273_274TT>T SKIV2L2_ENST00000230640.5_3'UTR|PPAP2A_ENST00000264775.5_In_Frame_Del_p.274_275TT>T NM_003711.2 NP_003702.2 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 273 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) GTGATTCCCAGTTGTTGGTGTTT 0.438 30 44 --- --- --- --- G3BP1 10146 broad.mit.edu 37 5 151179821 151179822 + Frame_Shift_Ins INS - - GGTGG TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr5:151179821_151179822insGGTGG ENST00000394123.3 + 10 1143_1144 c.998_999insGGTGG c.(997-1002)atggtgfs p.-334fs G3BP1_ENST00000356245.3_Frame_Shift_Ins_p.-334fs|G3BP1_ENST00000543466.1_Frame_Shift_Ins_p.-152fs Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) CCCCGAAGAATGGTGAGACACC 0.416 14 24 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 5 2 --- --- --- --- MS4A2 2206 broad.mit.edu 37 11 59861476 59861476 + Frame_Shift_Del DEL C C - rs143436537 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:59861476delC ENST00000278888.3 + 6 679 c.577delC c.(577-579)cttfs p.L193fs NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 193 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) CATTCTGGGACTTGGTAGTGC 0.403 8 36 --- --- --- --- H2AFX 3014 broad.mit.edu 37 11 118965789 118965815 + In_Frame_Del DEL CCTGGGCGATCGTCACGCCGCCCAGCA CCTGGGCGATCGTCACGCCGCCCAGCA - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr11:118965789_118965815delCCTGGGCGATCGTCACGCCGCCCAGCA ENST00000530167.1 - 1 362_388 c.290_316delTGCTGGGCGGCGTGACGATCGCCCAGG c.(289-318)ctgctgggcggcgtgacgatcgcccaggga>cga p.97_106LLGGVTIAQG>R NM_002105.2 NP_002096.1 P16104 H2AX_HUMAN H2A histone family, member X 97 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding lung(3) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) AGGACGCCTCCCTGGGCGATCGTCACGCCGCCCAGCAGCTTGTTGAG 0.692 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 76 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95912274 95912289 + Frame_Shift_Del DEL CTGTTATGCAGCAGGT CTGTTATGCAGCAGGT - rs28526182 byFrequency TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr14:95912274_95912289delCTGTTATGCAGCAGGT ENST00000334258.5 - 8 1603_1618 c.1589_1604delACCTGCTGCATAACAG c.(1588-1605)gacctgctgcataacagcfs p.DLLHNS530fs SYNE3_ENST00000557275.1_Frame_Shift_Del_p.DLLHNS530fs|SYNE3_ENST00000553340.1_Frame_Shift_Del_p.DLLHNS530fs|SYNE3_ENST00000554873.1_Frame_Shift_Del_p.DLLHNS287fs NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CTGCAGGAGGCTGTTATGCAGCAGGTCTCTGTCCCT 0.597 17 33 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29556856 29556866 + Frame_Shift_Del DEL TTATTGACTGA TTATTGACTGA - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr17:29556856_29556866delTTATTGACTGA ENST00000358273.4 + 22 3237_3247 c.2854_2864delTTATTGACTGA c.(2854-2865)ttattgactgatfs p.LLTD952fs NF1_ENST00000356175.3_Frame_Shift_Del_p.LLTD952fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 952 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.L952*(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTTTAGGTTTTATTGACTGATACCAATACT 0.370 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 23 49 --- --- --- --- EPHX3 79852 broad.mit.edu 37 19 15342144 15342157 + Frame_Shift_Del DEL CAAGTCCACAGCCA CAAGTCCACAGCCA - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:15342144_15342157delCAAGTCCACAGCCA ENST00000221730.3 - 3 600_613 c.380_393delTGGCTGTGGACTTG c.(379-393)gtggctgtggacttgfs p.VAVDL127fs EPHX3_ENST00000602233.1_Frame_Shift_Del_p.VAVDL127fs|EPHX3_ENST00000435261.1_Frame_Shift_Del_p.VAVDL127fs NM_024794.2 NP_079070.1 Q9H6B9 EPHX3_HUMAN epoxide hydrolase 3 127 extracellular region hydrolase activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CATAGCCTCGCAAGTCCACAGCCACAACATGGAA 0.621 11 49 --- --- --- --- FCHO1 23149 broad.mit.edu 37 19 17877494 17877499 + In_Frame_Del DEL TGGGAG TGGGAG - TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff 69161742-3ba9-43f9-b258-4ef2925b854d g.chr19:17877494_17877499delTGGGAG ENST00000594202.1 + 7 490_495 c.211_216delTGGGAG c.(211-216)tgggagdel p.WE71del FCHO1_ENST00000389133.4_In_Frame_Del_p.WE71del|FCHO1_ENST00000600676.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000597512.1_In_Frame_Del_p.WE78del|FCHO1_ENST00000596951.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000596536.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000539407.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000252771.7_In_Frame_Del_p.WE71del|FCHO1_ENST00000595033.1_In_Frame_Del_p.WE21del NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 71 FCH. NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CGCCCCGCTCTGGGAGGTCTTCCGCG 0.641 8 20 --- --- --- ---