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 ZNF415 55786 broad.mit.edu 37 19 53612056 53612056 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:53612056G>A ENST00000455735.2 - 7 1706 c.1386C>T c.(1384-1386)tgC>tgT p.C462C ZNF415_ENST00000243643.4_Silent_p.C414C|ZNF415_ENST00000440291.1_Silent_p.C401C|ZNF415_ENST00000448501.1_Silent_p.C462C|ZNF415_ENST00000421033.1_Silent_p.C426C|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.C184C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.C414C Q09FC8 ZN415_HUMAN zinc finger protein 415 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CACATTCATTGCATTTGTAAG 0.403000 23 41 0 0 0.016522 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588692 140588692 + Missense_Mutation SNP C C A rs145009914 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:140588692C>A ENST00000239450.2 + 1 402 c.213C>A c.(211-213)aaC>aaA p.N71K PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 71 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTAATGATAACAAAGAGTGTT 0.522000 31 62 2.08457e-15 2.70994e-15 0.045705 1 0 UBE2NL 389898 broad.mit.edu 37 X 142967322 142967322 + Silent SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:142967322T>A ENST00000370494.1 + 1 150 c.120T>A c.(118-120)gcT>gcA p.A40A NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 40 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) TGGTCATTGCTGGGGAATCAA 0.473000 53 35 0 0 0.048971 0 0 GAREM 64762 broad.mit.edu 37 18 29867752 29867752 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:29867752G>A ENST00000399218.4 - 4 863 c.808C>T c.(808-810)Cgc>Tgc p.R270C RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.R270C NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 p.R270C(1) AACTTATAGCGGTGCCCCTCA 0.527000 16 67 0 0 0.028581 0 0 FER1L6 654463 broad.mit.edu 37 8 125061872 125061872 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:125061872A>G ENST00000522917.1 + 22 2955 c.2749A>G c.(2749-2751)Aca>Gca p.T917A FER1L6_ENST00000399018.1_Missense_Mutation_p.T917A|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 917 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTGGGTGCCACAGTGGCTGC 0.473000 14 49 0 0 0.016723 0 0 CDH19 28513 broad.mit.edu 37 18 64202289 64202289 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:64202289T>C ENST00000262150.2 - 8 1562 c.1270A>G c.(1270-1272)Aca>Gca p.T424A CDH19_ENST00000540086.1_Missense_Mutation_p.T424A NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 424 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) GAGTTACTTGTAGTGATTGTA 0.328000 4 33 0 0 0.009096 0 0 WDR72 256764 broad.mit.edu 37 15 54003099 54003099 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:54003099G>T ENST00000396328.1 - 9 1148 c.909C>A c.(907-909)acC>acA p.T303T WDR72_ENST00000557913.1_Silent_p.T302T|WDR72_ENST00000360509.5_Silent_p.T303T|WDR72_ENST00000559418.1_Silent_p.T315T NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 303 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GAGGATAAATGGTCTCTTTAA 0.383000 9 49 3.07112e-06 3.3403e-06 0.010729 1 0 IQGAP2 10788 broad.mit.edu 37 5 75954373 75954373 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:75954373G>T ENST00000274364.6 + 21 2707 c.2410G>T c.(2410-2412)Gtt>Ttt p.V804F IQGAP2_ENST00000396234.3_Missense_Mutation_p.V300F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V306F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V300F NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 804 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GGAACTAGAGGTTGCACGATT 0.448000 37 45 2.19358e-23 3.00928e-23 0.023175 1 0 ADSL 158 broad.mit.edu 37 22 40757500 40757500 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:40757500G>T ENST00000216194.7 + 9 927 c.871G>T c.(871-873)Gcg>Tcg p.A291S ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.A291S|ADSL_ENST00000454266.2_Missense_Mutation_p.A305S NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 291 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 AGGCTCAAGTGCGATGCCATA 0.522000 17 99 1.01871e-10 1.25274e-10 0.049695 1 0 DNAH7 56171 broad.mit.edu 37 2 196834805 196834805 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:196834805C>T ENST00000312428.6 - 17 2172 c.2072G>A c.(2071-2073)cGg>cAg p.R691Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 691 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTCCACAAACCGTTCACACCG 0.323000 19 54 0 0 0.014323 0 0 KLHL40 131377 broad.mit.edu 37 3 42727527 42727527 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:42727527C>T ENST00000287777.4 + 1 517 c.417C>T c.(415-417)ctC>ctT p.L139L NM_152393.2 NP_689606.2 kelch-like family member 40 TCTTCCGTCTCGGCCTCCTGC 0.652000 52 50 0 0 0.048971 0 0 SLIT3 6586 broad.mit.edu 37 5 168135107 168135107 + Splice_Site SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:168135107T>G ENST00000519560.1 - 26 3139 c.e26-2 SLIT3_ENST00000332966.8_Silent_p.P913P|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Splice_Site|CTC-558O2.1_ENST00000522615.1_RNA NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCACTGGCCCTGGGCAGCAAA 0.612000 5 41 0 0 0.021553 0 0 NLRP12 91662 broad.mit.edu 37 19 54313980 54313980 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:54313980G>T ENST00000324134.6 - 3 1101 c.933C>A c.(931-933)tgC>tgA p.C311* NLRP12_ENST00000345770.5_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.C311* NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 311 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCCAGCAGAGGCACCAGGGTC 0.567000 14 46 2.32078e-09 2.75467e-09 0.024245 1 0 WDR90 197335 broad.mit.edu 37 16 701826 701826 + Splice_Site SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:701826G>T ENST00000549091.1 + 9 932 c.e9-1 WDR90_ENST00000293879.4_Splice_Site NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TCCCCCAGCAGTCCGGCCGGG 0.687000 20 49 7.41877e-09 8.69238e-09 0.062417 1 0 COL4A1 1282 broad.mit.edu 37 13 110833680 110833680 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr13:110833680A>G ENST00000375820.4 - 29 2273 c.2152T>C c.(2152-2154)Ttt>Ctt p.F718L NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 718 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAGCCATTAAATCCCGGGCGA 0.502000 7 45 0 0 0.047766 0 0 NCR2 9436 broad.mit.edu 37 6 41318574 41318574 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:41318574G>C ENST00000373089.5 + 5 891 c.803G>C c.(802-804)aGc>aCc p.S268T NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 268 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) actaagataagcgatgatgat 0.408000 16 34 0 0 0.024245 0 0 PTPRB 5787 broad.mit.edu 37 12 70954538 70954538 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:70954538C>T ENST00000334414.6 - 17 4389 c.4345G>A c.(4345-4347)Ggc>Agc p.G1449S PTPRB_ENST00000550857.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1361S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1141S|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1448S|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1231S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1231 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGAACAAGGCCTTGAAACCGC 0.493000 15 47 0 0 0.020292 0 0 KLHL2 11275 broad.mit.edu 37 4 166232680 166232680 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:166232680T>C ENST00000226725.6 + 11 1561 c.1302T>C c.(1300-1302)aaT>aaC p.N434N KLHL2_ENST00000514860.1_Silent_p.N438N|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Silent_p.N346N|KLHL2_ENST00000506761.1_Silent_p.N268N|KLHL2_ENST00000421009.2_Silent_p.N337N NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 434 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) CTCCCATGAATACAAGGAGGA 0.418000 29 155 0 0 0.050027 0 0 SLC35G3 146861 broad.mit.edu 37 17 33521053 33521053 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:33521053C>A ENST00000297307.5 - 1 359 c.274G>T c.(274-276)Gac>Tac p.D92Y NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 92 DUF6 1. integral to membrane AGAAGGGGGTCGCCACGCAGT 0.582000 88 120 9.24773e-40 1.29468e-39 0.048971 1 0 OR2W3 343171 broad.mit.edu 37 1 248059405 248059405 + Missense_Mutation SNP G G A rs139271211 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:248059405G>A ENST00000537741.1 + 3 774 c.517G>A c.(517-519)Gag>Aag p.E173K OR2W3_ENST00000360358.3_Missense_Mutation_p.E173K Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGGCACCACGAGGTGGACCA 0.657000 41 76 0 0 0.025465 0 0 DACT1 51339 broad.mit.edu 37 14 59112625 59112625 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:59112625C>A ENST00000395153.3 + 4 1320 c.1173C>A c.(1171-1173)gcC>gcA p.A391A DACT1_ENST00000335867.4_Silent_p.A428A|DACT1_ENST00000541264.2_Silent_p.A147A|DACT1_ENST00000556859.1_Silent_p.A147A|DACT1_ENST00000395151.3_Silent_p.A147A NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 428 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.A428A(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CCGAACAAGCCGAAAGCAAGA 0.597000 7 46 5.18039e-06 5.58991e-06 0.038147 1 0 EEA1 8411 broad.mit.edu 37 12 93221688 93221688 + Splice_Site SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:93221688C>A ENST00000322349.8 - 12 1668 c.1404_splice c.e12+1 p.Q468_splice NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 468 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 GCTAGCTTACCTGCTCTTCTA 0.348000 43 129 1.00953e-15 1.31867e-15 0.045515 1 0 GRAMD1C 54762 broad.mit.edu 37 3 113634611 113634611 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:113634611C>T ENST00000358160.4 + 10 1508 c.1016C>T c.(1015-1017)gCt>gTt p.A339V GRAMD1C_ENST00000440446.2_Missense_Mutation_p.A134V|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.A172V|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.A68V NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 339 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 CATATCAGTGCTGACAGAATG 0.338000 11 40 0 0 0.008291 0 0 ABCC2 1244 broad.mit.edu 37 10 101591889 101591889 + Splice_Site SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:101591889G>A ENST00000370449.4 + 23 3371 c.e23+1 NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTTTGCCGGCGTAAGTATCTC 0.433000 10 63 0 0 0.008291 0 0 ZNF432 9668 broad.mit.edu 37 19 52537631 52537631 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:52537631C>A ENST00000594154.1 - 5 1513 c.1301G>T c.(1300-1302)tGt>tTt p.C434F ZNF432_ENST00000221315.5_Missense_Mutation_p.C434F O94892 ZN432_HUMAN zinc finger protein 432 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) ACCTTTTCCACATTCACTACA 0.408000 16 71 6.31663e-08 7.18516e-08 0.024245 1 0 MMP13 4322 broad.mit.edu 37 11 102825316 102825316 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:102825316C>G ENST00000260302.3 - 3 410 c.382G>C c.(382-384)Gat>Cat p.D128H MMP13_ENST00000340273.4_Missense_Mutation_p.D128H NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 128 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TGAGTCATATCAGGGGTGTAA 0.348000 12 79 0 0 0.033300 0 0 SLC35F1 222553 broad.mit.edu 37 6 118556735 118556735 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:118556735T>C ENST00000360388.4 + 3 614 c.413T>C c.(412-414)aTa>aCa p.I138T NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 138 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TTGGGACTCATAGACCTGGAA 0.433000 23 46 0 0 0.014323 0 0 ALG13 79868 broad.mit.edu 37 X 110951259 110951259 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:110951259C>G ENST00000394780.3 + 4 400 c.388C>G c.(388-390)Ctg>Gtg p.L130V ALG13_ENST00000251943.4_Missense_Mutation_p.L26V|ALG13-AS1_ENST00000430794.1_RNA NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 130 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 TCACAGGGTCCTGACTTGTCC 0.512000 7 7 0 0 0.029380 0 0 LHFP 10186 broad.mit.edu 37 13 39952615 39952615 + Missense_Mutation SNP C C T rs142526688 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr13:39952615C>T ENST00000379589.3 - 3 896 c.434G>A c.(433-435)aGt>aAt p.S145N NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 145 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) GACTTCCTCACTGTCCCAGCC 0.502000 T HMGA2 lipoma 10 47 0 0 0.020292 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537198 5537198 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:5537198T>A ENST00000380184.1 - 1 737 c.474A>T c.(472-474)aaA>aaT p.K158N HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 158 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GGGTATGCACTTTGGGTGCAT 0.507000 28 49 0 0 0.027356 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065526 55065526 + RNA SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:55065526C>A ENST00000526016.1 - 0 182 NR_038174.2 GCAATGGAAGCCATGTTCTTC 0.463000 10 14 1.33987e-11 1.67791e-11 0.008291 1 0 SEC31A 22872 broad.mit.edu 37 4 83748592 83748592 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:83748592C>G ENST00000432794.1 - 25 3423 c.3260G>C c.(3259-3261)gGc>gCc p.G1087A SEC31A_ENST00000505472.1_Missense_Mutation_p.G1105A|SEC31A_ENST00000355196.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000348405.4_Missense_Mutation_p.G1035A|SEC31A_ENST00000448323.1_Missense_Mutation_p.G1074A|SEC31A_ENST00000513858.1_Missense_Mutation_p.G921A|SEC31A_ENST00000311785.7_Missense_Mutation_p.G960A|SEC31A_ENST00000443462.2_Missense_Mutation_p.G1054A|SEC31A_ENST00000326950.5_Missense_Mutation_p.G1035A|SEC31A_ENST00000264405.5_Missense_Mutation_p.G823A|SEC31A_ENST00000508502.1_Missense_Mutation_p.G1059A|SEC31A_ENST00000505984.1_Missense_Mutation_p.G1020A|SEC31A_ENST00000395310.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000500777.2_Missense_Mutation_p.G921A|SEC31A_ENST00000509142.1_Missense_Mutation_p.G960A O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1074 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TGGTGGCATGCCTGTTTGACC 0.502000 30 147 0 0 0.041601 0 0 SPDL1 54908 broad.mit.edu 37 5 169015579 169015579 + Splice_Site SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:169015579G>C ENST00000265295.4 + 2 438 c.159_splice c.e2+1 p.E53_splice SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 CCATGACTGAGGTAGGACTCT 0.363000 9 38 0 0 0.008291 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84581990 84581990 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:84581990C>A ENST00000286744.5 + 16 2071 c.1847C>A c.(1846-1848)aCc>aAc p.T616N ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T616N NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 616 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AAGCTGCCCACCGAACGGCCC 0.617000 10 38 7.48243e-07 8.27005e-07 0.058154 1 0 L3MBTL4 91133 broad.mit.edu 37 18 5956275 5956275 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:5956275G>A ENST00000284898.6 - 20 2016 c.1816C>T c.(1816-1818)Cat>Tat p.H606Y RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.H606Y|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.H410Y|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.H597Y NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 606 SAM. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TCCTGGGAATGCCTGAACATC 0.498000 48 184 0 0 0.048971 0 0 KIAA0825 285600 broad.mit.edu 37 5 93856508 93856508 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:93856508G>T ENST00000513200.3 - 4 487 c.415C>A c.(415-417)Cat>Aat p.H139N KIAA0825_ENST00000329378.7_Missense_Mutation_p.H139N|KIAA0825_ENST00000427991.2_Missense_Mutation_p.H139N|KIAA0825_ENST00000312498.7_Missense_Mutation_p.H139N NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 139 breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 GAGAGGAAATGGAAAGATGTT 0.413000 4 37 0.00024832 0.000258746 0.009096 1 0 CELSR1 9620 broad.mit.edu 37 22 46806456 46806456 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:46806456G>A ENST00000262738.3 - 7 4771 c.4772C>T c.(4771-4773)tCc>tTc p.S1591F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1591 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGATCCAGGGACCTGGGTAG 0.642000 32 26 0 0 0.019004 0 0 BRIP1 83990 broad.mit.edu 37 17 59763502 59763502 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:59763502T>A ENST00000259008.2 - 19 2867 c.2600A>T c.(2599-2601)cAg>cTg p.Q867L BRIP1_ENST00000577598.1_Missense_Mutation_p.Q867L NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 867 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 GTGCTGAATCTGCTGCCGTAC 0.358000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 9 83 0 0 0.016723 0 0 NSD1 64324 broad.mit.edu 37 5 176721512 176721512 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:176721512C>A ENST00000439151.2 + 23 7188 c.7143C>A c.(7141-7143)ccC>ccA p.P2381P NSD1_ENST00000347982.4_Silent_p.P2112P|NSD1_ENST00000354179.4_Silent_p.P2112P|NSD1_ENST00000361032.4_Silent_p.P2278P NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2381 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCTCAGTTCCCACTGGCCTGA 0.562000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 16 63 2.31682e-05 2.47067e-05 0.024245 1 0 COL5A1 1289 broad.mit.edu 37 9 137704317 137704317 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:137704317A>G ENST00000371817.3 + 47 4127 c.3713A>G c.(3712-3714)gAg>gGg p.E1238G NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1238 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCTCCAGGCGAGAAGGGTGAG 0.527000 6 40 0 0 0.038147 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673889 20673889 + Missense_Mutation SNP C C T rs151244472 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:20673889C>T ENST00000525748.1 + 15 2398 c.2125C>T c.(2125-2127)Cgc>Tgc p.R709C SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 709 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TGGCTCTTACCGCTATCCTAA 0.488000 18 107 0 0 0.043863 0 0 ACSL4 2182 broad.mit.edu 37 X 108904779 108904779 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:108904779T>C ENST00000340800.2 - 15 2305 c.1801A>G c.(1801-1803)Atc>Gtc p.I601V ACSL4_ENST00000348502.6_Missense_Mutation_p.I560V|ACSL4_ENST00000469796.2_Missense_Mutation_p.I601V NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 601 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) AAAGCACAGATGTTGTCAATA 0.333000 22 19 0 0 0.016522 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369912 20369912 + RNA SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:20369912C>T ENST00000593655.1 - 0 199 AGGCGGCTGACATTGATACCA 0.413000 15 26 0 0 0.020292 0 0 TSEN34 79042 broad.mit.edu 37 19 54695621 54695621 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:54695621G>A ENST00000396383.1 + 3 604 c.293G>A c.(292-294)aGc>aAc p.S98N TSEN34_ENST00000302937.4_Missense_Mutation_p.S98N|TSEN34_ENST00000396388.2_Missense_Mutation_p.S98N|TSEN34_ENST00000429671.2_Missense_Mutation_p.S98N Q9BSV6 SEN34_HUMAN TSEN34 tRNA splicing endonuclease subunit 98 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAGGAGCAGAGCGCCTTGGCA 0.582000 25 72 0 0 0.024334 0 0 ABCA1 19 broad.mit.edu 37 9 107547893 107547893 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:107547893T>C ENST00000374736.3 - 49 6823 c.6429A>G c.(6427-6429)gtA>gtG p.V2143V NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 2143 ABC transporter 2. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGCTATTCGTACAACTATTG 0.428000 11 63 0 0 0.016723 0 0 CHRM2 1129 broad.mit.edu 37 7 136700500 136700500 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:136700500G>C ENST00000445907.2 + 3 1416 c.888G>C c.(886-888)atG>atC p.M296I CHRM2_ENST00000453373.1_Missense_Mutation_p.M296I|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M296I|CHRM2_ENST00000320658.5_Missense_Mutation_p.M296I|CHRM2_ENST00000402486.3_Missense_Mutation_p.M296I|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M296I|AC009264.1_ENST00000425981.2_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 296 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCTCTAATATGAGAGATGATG 0.478000 9 67 0 0 0.010729 0 0 SBK1 388228 broad.mit.edu 37 16 28331653 28331653 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:28331653C>T ENST00000341901.4 + 4 1475 c.686C>T c.(685-687)gCg>gTg p.A229V NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 229 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GACGGGCTGGCGGTGGACACG 0.736000 8 19 0 0 0.047766 0 0 ASPM 259266 broad.mit.edu 37 1 197091420 197091420 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:197091420C>G ENST00000367409.4 - 15 3866 c.3610G>C c.(3610-3612)Gag>Cag p.E1204Q ASPM_ENST00000367408.1_Missense_Mutation_p.E454Q|ASPM_ENST00000294732.7_Missense_Mutation_p.E1204Q NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1204 CH 2. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTGTATAGCTCTGAAGTATTT 0.363000 18 45 0 0 0.038395 0 0 HEPH 9843 broad.mit.edu 37 X 65480093 65480093 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:65480093T>C ENST00000519389.1 + 19 3529 c.3350T>C c.(3349-3351)tTt>tCt p.F1117S HEPH_ENST00000419594.1_Missense_Mutation_p.F874S|HEPH_ENST00000374727.3_Missense_Mutation_p.F1066S|HEPH_ENST00000343002.2_Missense_Mutation_p.F1063S|HEPH_ENST00000441993.2_Missense_Mutation_p.F1066S|HEPH_ENST00000336279.5_Missense_Mutation_p.F796S Q9BQS7 HEPH_HUMAN hephaestin 1063 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.F1063C(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TTCACTGTTTTTTCTCGAACA 0.473000 17 12 0 0 0.028581 0 0 SLC7A14 57709 broad.mit.edu 37 3 170185021 170185021 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:170185021T>C ENST00000231706.4 - 8 2453 c.2138A>G c.(2137-2139)gAg>gGg p.E713G CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 713 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCTCTCGCCCTCTGTGGCGTA 0.572000 24 48 0 0 0.021523 0 0 ANK1 286 broad.mit.edu 37 8 41572572 41572572 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:41572572G>A ENST00000396942.1 - 15 1706 c.1623C>T c.(1621-1623)caC>caT p.H541H ANK1_ENST00000289734.7_Silent_p.H541H|ANK1_ENST00000352337.4_Silent_p.H541H|ANK1_ENST00000396945.1_Silent_p.H541H|ANK1_ENST00000379758.2_Silent_p.H541H|ANK1_ENST00000347528.4_Silent_p.H541H|ANK1_ENST00000265709.8_Silent_p.H574H P16157 ANK1_HUMAN ankyrin 1, erythrocytic 541 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.H541H(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGCCGCCACGTGCAGAGGGG 0.627000 24 67 0 0 0.018920 0 0 DRD3 1814 broad.mit.edu 37 3 113866346 113866346 + Missense_Mutation SNP G G A rs141573183 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:113866346G>A ENST00000383673.2 - 4 872 c.442C>T c.(442-444)Cgg>Tgg p.R148W DRD3_ENST00000460779.1_Missense_Mutation_p.R148W|DRD3_ENST00000295881.7_Missense_Mutation_p.R148W|DRD3_ENST00000467632.1_Missense_Mutation_p.R148W NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 148 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GCCACGCGCCGACAGGAGCTC 0.562000 4 69 0 0 0.014758 0 0 FAM208B 54906 broad.mit.edu 37 10 5789010 5789010 + Nonsense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:5789010C>G ENST00000328090.5 + 15 4251 c.3626C>G c.(3625-3627)tCa>tGa p.S1209* NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1209 GTGGACTCATCATCAGCCTCT 0.473000 19 69 0 0 0.055883 0 0 OR5B3 441608 broad.mit.edu 37 11 58170004 58170004 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:58170004C>G ENST00000309403.2 - 1 878 c.879G>C c.(877-879)aaG>aaC p.K293N NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCTTCACTTCCTTGTTCCTCA 0.438000 6 94 0 0 0.013537 0 0 COL5A2 1290 broad.mit.edu 37 2 189962019 189962019 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:189962019C>T ENST00000374866.3 - 6 714 c.440G>A c.(439-441)gGg>gAg p.G147E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 147 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCTTTTGGCCCTCGCTCTCC 0.443000 8 55 0 0 0.058154 0 0 ZNF862 643641 broad.mit.edu 37 7 149545456 149545456 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:149545456G>A ENST00000223210.4 + 4 1119 c.874G>A c.(874-876)Gat>Aat p.D292N NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AGAAATCACTGATGGCATCCA 0.403000 3 14 0 0 0.009096 0 0 TRIM42 287015 broad.mit.edu 37 3 140409849 140409849 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:140409849G>A ENST00000286349.3 + 4 2091 c.1900G>A c.(1900-1902)Gag>Aag p.E634K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 634 Fibronectin type-III. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GGACTCTTTTGAGATGGAATT 0.418000 19 78 0 0 0.062417 0 0 PARD3 56288 broad.mit.edu 37 10 34690830 34690830 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:34690830C>T ENST00000374789.3 - 6 1055 c.730G>A c.(730-732)Gaa>Aaa p.E244K PARD3_ENST00000374788.3_Missense_Mutation_p.E244K|PARD3_ENST00000545693.1_Missense_Mutation_p.E244K|PARD3_ENST00000346874.4_Missense_Mutation_p.E244K|PARD3_ENST00000544292.1_5'UTR|PARD3_ENST00000374794.3_Missense_Mutation_p.E200K|PARD3_ENST00000545260.1_Missense_Mutation_p.E200K|PARD3_ENST00000374773.1_Missense_Mutation_p.E244K|PARD3_ENST00000374776.1_Missense_Mutation_p.E244K|PARD3_ENST00000340077.5_Missense_Mutation_p.E244K|PARD3_ENST00000374790.3_Missense_Mutation_p.E200K|PARD3_ENST00000350537.4_Missense_Mutation_p.E244K NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 244 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TTATCCTCTTCTGTCCCATCC 0.428000 58 119 0 0 0.048971 0 0 NLRC3 197358 broad.mit.edu 37 16 3602217 3602217 + RNA SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:3602217T>C ENST00000301749.7 - 0 2735 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAGACTCCTGTTCTGCTTCAA 0.532000 35 46 0 0 0.021022 0 0 CRTC3 64784 broad.mit.edu 37 15 91083350 91083350 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:91083350G>A ENST00000420329.2 + 2 359 c.212G>A c.(211-213)aGc>aAc p.S71N CRTC3_ENST00000268184.6_Missense_Mutation_p.S71N|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Missense_Mutation_p.S71N NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 71 Required for interaction with HTLV-1 TAX. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CAGCTGCGGAGCAGTGCGTCA 0.413000 T MAML2 salivary gland mucoepidermoid 29 40 0 0 0.054565 0 0 PTP4A3 11156 broad.mit.edu 37 8 142437153 142437153 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:142437153G>T ENST00000520105.1 + 4 1256 c.313G>T c.(313-315)Gtg>Ttg p.V105L PTP4A3_ENST00000521578.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000349124.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000329397.1_Missense_Mutation_p.V105L O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 105 Tyrosine-protein phosphatase. early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(2)|large_intestine(1)|lung(3) 6 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) TGTGCACTGCGTGGCGGGCCT 0.682000 27 147 8.53417e-09 9.95654e-09 0.054565 1 0 SGMS2 166929 broad.mit.edu 37 4 108831579 108831579 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:108831579A>T ENST00000394684.4 + 7 1525 c.968A>T c.(967-969)aAa>aTa p.K323I SGMS2_ENST00000359079.4_Missense_Mutation_p.K323I|SGMS2_ENST00000394686.3_Missense_Mutation_p.K323I|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 323 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) TTTTTTGAGAAAAATGTACAA 0.398000 29 30 0 0 0.037714 0 0 TCTN1 79600 broad.mit.edu 37 12 111078896 111078896 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:111078896G>T ENST00000551590.1 + 9 1202 c.1046G>T c.(1045-1047)gGg>gTg p.G349V HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.G171V|TCTN1_ENST00000397655.3_Missense_Mutation_p.G335V|TCTN1_ENST00000397659.4_Missense_Mutation_p.G349V Q2MV58 TECT1_HUMAN tectonic family member 1 349 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TTCGTTCTGGGGACAGTTAGC 0.393000 47 101 2.52991e-16 3.33654e-16 0.048971 1 0 CC2D2A 57545 broad.mit.edu 37 4 15556795 15556795 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:15556795A>G ENST00000424120.1 + 20 2841 c.2587A>G c.(2587-2589)Aat>Gat p.N863D CC2D2A_ENST00000503292.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.N814D|CC2D2A_ENST00000413206.1_Missense_Mutation_p.N863D Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 863 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GCTCGACCCAAATGACCCCAA 0.463000 10 27 0 0 0.008291 0 0 LILRB5 10990 broad.mit.edu 37 19 54761048 54761048 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:54761048G>A ENST00000450632.1 - 1 86 c.9C>T c.(7-9)ctC>ctT p.L3L LILRB5_ENST00000345866.6_Silent_p.L3L|LILRB5_ENST00000449561.2_Silent_p.L3L|LILRB5_ENST00000316219.5_Silent_p.L3L O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 3 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGAGAGGGTGAGGGTCATGG 0.587000 9 44 0 0 0.058154 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820232 50820232 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:50820232C>T ENST00000374115.3 + 1 1886 c.1446C>T c.(1444-1446)cgC>cgT p.R482R CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 482 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GTTCCGAGCGCGATGTGCTGC 0.667000 40 42 0 0 0.027894 0 0 PLCL1 5334 broad.mit.edu 37 2 198950188 198950188 + Missense_Mutation SNP C C G rs151231252 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:198950188C>G ENST00000428675.1 + 2 2345 c.1947C>G c.(1945-1947)atC>atG p.I649M PLCL1_ENST00000437704.2_Missense_Mutation_p.I551M NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 649 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.I551I(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CCATGAGGATCGATTCCAGTA 0.423000 5 45 0 0 0.014758 0 0 JDP2 122953 broad.mit.edu 37 14 75936093 75936093 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:75936093G>A ENST00000435893.2 + 4 680 c.407G>A c.(406-408)cGc>cAc p.R136H JDP2_ENST00000437176.1_Missense_Mutation_p.R136H|JDP2_ENST00000419727.2_Missense_Mutation_p.R136H|JDP2_ENST00000267569.5_Missense_Mutation_p.R147H NM_001135047.1|NM_130469.3 NP_001128519.1|NP_569736.1 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 136 nucleus sequence-specific DNA binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.0296) AACCGACACCGCCCCACCTGC 0.607000 17 40 0 0 0.033300 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559422 44559422 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:44559422C>T ENST00000332567.4 - 1 2566 c.2214G>A c.(2212-2214)ctG>ctA p.L738L KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 738 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCTTGGCCATCAGCGGGGCCA 0.562000 21 127 0 0 0.016522 0 0 GPAA1 8733 broad.mit.edu 37 8 145140516 145140516 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:145140516C>A ENST00000355091.4 + 11 1613 c.1492C>A c.(1492-1494)Ctg>Atg p.L498M GPAA1_ENST00000361036.6_Missense_Mutation_p.L438M NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 498 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGATGGCACTGAAGCTGGT 0.597000 30 97 4.74835e-14 6.08592e-14 0.045705 1 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013751 117013751 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:117013751C>T ENST00000306985.4 + 2 158 c.4C>T c.(4-6)Ccg>Tcg p.P2S MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.P2S NM_001085481.1 NP_001078950.1 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 beta 2 2 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule breast(1)|large_intestine(2)|lung(3) 6 CCACACCATGCCGTCGGAGAA 0.627000 33 29 0 0 0.054565 0 0 GJA8 2703 broad.mit.edu 37 1 147380527 147380527 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:147380527A>T ENST00000240986.4 + 2 498 c.445A>T c.(445-447)Agg>Tgg p.R149W GJA8_ENST00000369235.1_Missense_Mutation_p.R149W NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 149 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GACCCTGCTGAGGACCTACAT 0.607000 20 115 0 0 0.043863 0 0 ENPP3 5169 broad.mit.edu 37 6 132039838 132039838 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:132039838G>A ENST00000414305.1 + 17 1767 c.1439G>A c.(1438-1440)gGa>gAa p.G480E ENPP3_ENST00000358229.5_Missense_Mutation_p.G480E|ENPP3_ENST00000357639.3_Missense_Mutation_p.G480E O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 480 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AATTGTGGAGGAGGCAACCAT 0.294000 25 67 0 0 0.034045 0 0 SEMA5A 9037 broad.mit.edu 37 5 9136622 9136622 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:9136622C>A ENST00000382496.5 - 13 2258 c.1593G>T c.(1591-1593)gcG>gcT p.A531A NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 531 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TCACCGGACACGCAGAGATGC 0.587000 4 27 0.00024832 0.000258746 0.009096 1 0 CSMD3 114788 broad.mit.edu 37 8 113256689 113256689 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:113256689C>A ENST00000297405.5 - 65 10580 c.10336G>T c.(10336-10338)Ggt>Tgt p.G3446C CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3446 Sushi 28. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCTGTTCCACCTGCTAAGAAG 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 75 3.41278e-10 4.15933e-10 0.033300 1 0 ASXL3 80816 broad.mit.edu 37 18 31323155 31323155 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:31323155C>G ENST00000269197.5 + 12 3343 c.3343C>G c.(3343-3345)Caa>Gaa p.Q1115E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGCAAAGCATCAAGCTCGAGC 0.527000 4 23 0 0 0.009096 0 0 ATP2B2 491 broad.mit.edu 37 3 10401651 10401651 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:10401651G>A ENST00000397077.1 - 12 2256 c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 606 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ATGGACTTGCGCACGGAGTTG 0.577000 53 42 0 0 0.048971 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42168941 42168941 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:42168941T>A ENST00000444063.1 + 17 2186 c.2054T>A c.(2053-2055)aTc>aAc p.I685N L3MBTL1_ENST00000373135.3_Missense_Mutation_p.I685N|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.I753N|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.I753N|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.I690N Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 685 SAM. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 AAGTGGACCATCGATGAGGTG 0.612000 34 43 0 0 0.019004 0 0 KIRREL 55243 broad.mit.edu 37 1 158059256 158059256 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:158059256C>G ENST00000368172.1 + 5 463 c.451C>G c.(451-453)Cct>Gct p.P151A KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000359209.6_Intron|KIRREL_ENST00000368173.3_Missense_Mutation_p.P353A|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000416935.2_Intron Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 348 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GCCCAGGCCTCCTGGCTCCCC 0.617000 8 35 0 0 0.008291 0 0 AGAP4 119016 broad.mit.edu 37 10 46322017 46322017 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:46322017C>T ENST00000448048.2 - 7 1463 c.1338G>A c.(1336-1338)tcG>tcA p.S446S NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 446 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1)|lung(1)|ovary(1) 3 TGTTTTGGATCGACTGCAGGG 0.552000 63 48 0 0 0.048971 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000439 16000439 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:16000439C>G ENST00000221700.5 - 7 807 c.712G>C c.(712-714)Gag>Cag p.E238Q CYP4F2_ENST00000011989.7_Missense_Mutation_p.E89Q|CYP4F2_ENST00000592328.1_Missense_Mutation_p.E238Q NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 238 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGGAGGATCTCATGGTGTCTT 0.512000 9 131 0 0 0.028581 0 0 SNRPN 6638 broad.mit.edu 37 15 25221556 25221556 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:25221556C>T ENST00000444203.2 + 4 1311 c.272C>T c.(271-273)cCc>cTc p.P91L SNRPN_ENST00000346403.6_Missense_Mutation_p.P87L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P87L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P87L|SNRPN_ENST00000554227.2_Missense_Mutation_p.P91L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P87L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P87L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P87L|SNURF_ENST00000338094.6_3'UTR P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 87 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GGGCCACCCCCCAAAGATGTA 0.488000 Prader-Willi syndrome 12 51 0 0 0.016723 0 0 PCYT2 5833 broad.mit.edu 37 17 79865452 79865452 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:79865452T>C ENST00000538936.2 - 6 623 c.515A>G c.(514-516)gAg>gGg p.E172G PCYT2_ENST00000571105.1_Missense_Mutation_p.E172G|PCYT2_ENST00000331285.3_Missense_Mutation_p.E94G|PCYT2_ENST00000570388.1_Missense_Mutation_p.E94G|PCYT2_ENST00000570391.1_Missense_Mutation_p.E140G|PCYT2_ENST00000538721.2_Missense_Mutation_p.E172G NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 172 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GTCTGCATACTCCCGGTACTC 0.667000 3 9 0 0 0.004672 0 0 PAAF1 80227 broad.mit.edu 37 11 73620473 73620473 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:73620473G>A ENST00000544909.1 + 5 822 c.565G>A c.(565-567)Ggg>Agg p.G189R PAAF1_ENST00000376384.5_Missense_Mutation_p.G171R|PAAF1_ENST00000541951.1_Missense_Mutation_p.G73R|PAAF1_ENST00000310571.3_Missense_Mutation_p.G188R|PAAF1_ENST00000535604.1_Missense_Mutation_p.G73R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G171R|PAAF1_ENST00000544552.1_Missense_Mutation_p.G171R Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 188 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) CGTTGATCGGGGGAGGAATGT 0.507000 12 85 0 0 0.024245 0 0 LAMA2 3908 broad.mit.edu 37 6 129674405 129674405 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:129674405C>G ENST00000421865.2 + 32 4669 c.4620C>G c.(4618-4620)gaC>gaG p.D1540E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1540 Laminin EGF-like 17. 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) TGCCCTGTGACCCTGTCACAG 0.602000 23 50 0 0 0.018920 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734432 12734432 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:12734432T>A ENST00000380682.1 + 15 2360 c.1854T>A c.(1852-1854)tgT>tgA p.C618* NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 618 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGGCCCCCTGTGAGGCAGACT 0.532000 47 30 0 0 0.048971 0 0 LRP1B 53353 broad.mit.edu 37 2 141027836 141027836 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:141027836G>C ENST00000389484.3 - 86 14193 c.13222C>G c.(13222-13224)Ccc>Gcc p.P4408A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4408 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTGTCTCGGGGTCCAGCTGG 0.403000 TSP Lung(27;0.18) 19 38 0 0 0.062417 0 0 C10orf76 79591 broad.mit.edu 37 10 103789339 103789339 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:103789339C>A ENST00000311122.5 - 5 589 c.470G>T c.(469-471)tGg>tTg p.W157L C10orf76_ENST00000370033.4_Intron Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 0 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TGATAGTGTCCAGGAACAGCT 0.438000 11 54 3.86212e-05 4.08666e-05 0.008291 1 0 LAMA2 3908 broad.mit.edu 37 6 129714275 129714275 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:129714275G>T ENST00000421865.2 + 37 5369 c.5320G>T c.(5320-5322)Gaa>Taa p.E1774* NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1774 Domain II and I. 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) GGATCTCCGGGAAAAACTGGC 0.448000 17 47 4.7546e-09 5.59486e-09 0.028581 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 11 0.004672 0.00477699 0.004672 1 0 TMEM213 155006 broad.mit.edu 37 7 138487681 138487681 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:138487681G>A ENST00000442682.2 + 3 344 c.191G>A c.(190-192)cGc>cAc p.R64H TMEM213_ENST00000422794.2_Missense_Mutation_p.R114H|TMEM213_ENST00000397602.3_Missense_Mutation_p.R63H|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000458494.1_Missense_Mutation_p.R40H NM_001085429.1 NP_001078898.1 A2RRL7 TM213_HUMAN transmembrane protein 213 64 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(1) 6 CGGTGCTGCCGCACAGGAGTG 0.627000 19 36 0 0 0.055883 0 0 NDST4 64579 broad.mit.edu 37 4 115998155 115998155 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:115998155G>T ENST00000264363.2 - 2 716 c.38C>A c.(37-39)aCa>aAa p.T13K NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 13 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AACAATCAATGTTCGAAAACT 0.348000 4 20 0.00909568 0.00923093 0.009096 1 0 TMPRSS9 360200 broad.mit.edu 37 19 2408379 2408379 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:2408379G>A ENST00000332578.3 + 7 766 c.766G>A c.(766-768)Gcc>Acc p.A256T NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 256 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) GAAGTGGGTGGCCTACGTGGG 0.672000 17 21 0 0 0.062417 0 0 ATRX 546 broad.mit.edu 37 X 76907828 76907828 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:76907828C>G ENST00000373344.5 - 15 4547 c.4333G>C c.(4333-4335)Gaa>Caa p.E1445Q ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E1407Q NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1445 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) tcctcctcttcttcctcAGAA 0.378000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 22 21 0 0 0.055883 0 0 ADSL 158 broad.mit.edu 37 22 40757501 40757501 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:40757501C>G ENST00000216194.7 + 9 928 c.872C>G c.(871-873)gCg>gGg p.A291G ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.A291G|ADSL_ENST00000454266.2_Missense_Mutation_p.A305G NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 291 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity p.A291V(2) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 GGCTCAAGTGCGATGCCATAT 0.527000 18 98 0 0 0.055883 0 0 EIF2B3 8891 broad.mit.edu 37 1 45444037 45444037 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:45444037C>T ENST00000360403.2 - 3 370 c.244G>A c.(244-246)Gct>Act p.A82T EIF2B3_ENST00000372183.3_Missense_Mutation_p.A82T|EIF2B3_ENST00000480675.1_5'UTR NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 82 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) CCCATGTCAGCGTCATCAGGA 0.363000 62 106 0 0 0.048971 0 0 MMRN1 22915 broad.mit.edu 37 4 90856493 90856493 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:90856493G>T ENST00000394980.1 + 7 1981 c.1662G>T c.(1660-1662)aaG>aaT p.K554N MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.K554N|MMRN1_ENST00000508372.1_Missense_Mutation_p.K296N Q13201 MMRN1_HUMAN multimerin 1 554 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AAAATATAAAGAAGCAGAGTT 0.383000 10 59 5.50884e-06 5.92092e-06 0.013537 1 0 CAMTA1 23261 broad.mit.edu 37 1 7724486 7724486 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:7724486G>T ENST00000303635.7 + 9 2086 c.1879G>T c.(1879-1881)Gtc>Ttc p.V627F CAMTA1_ENST00000439411.2_Missense_Mutation_p.V627F NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ACCCCTCCCCGTCGAGCAGAA 0.652000 T WWTR1 epitheliod hemangioendothelioma 79 81 2.27196e-54 3.19714e-54 0.048971 1 0 SYNE3 161176 broad.mit.edu 37 14 95922000 95922000 + Missense_Mutation SNP G G T rs143391386 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:95922000G>T ENST00000334258.5 - 5 865 c.851C>A c.(850-852)gCg>gAg p.A284E SYNE3_ENST00000557275.1_Missense_Mutation_p.A284E|SYNE3_ENST00000554873.1_Missense_Mutation_p.A41E|SYNE3_ENST00000553340.1_Missense_Mutation_p.A284E NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 AATGACACCCGCAGACTGCTC 0.567000 20 181 3.8784e-16 5.09041e-16 0.062417 1 0 FAM155A 728215 broad.mit.edu 37 13 108518775 108518775 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr13:108518775C>A ENST00000375915.2 - 1 308 c.170G>T c.(169-171)tGg>tTg p.W57L NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 57 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GGCGCAGAACCACAAGTGATC 0.602000 75 74 1.23106e-19 1.66375e-19 0.048971 1 0 SYBU 55638 broad.mit.edu 37 8 110587410 110587410 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:110587410G>C ENST00000399066.3 - 6 2435 c.1708C>G c.(1708-1710)Ctc>Gtc p.L570V SYBU_ENST00000276646.9_Missense_Mutation_p.L573V|SYBU_ENST00000532779.1_Missense_Mutation_p.L505V|SYBU_ENST00000422135.1_Missense_Mutation_p.L573V|SYBU_ENST00000533895.1_Missense_Mutation_p.L572V|SYBU_ENST00000533065.1_Missense_Mutation_p.L454V|SYBU_ENST00000446070.2_Missense_Mutation_p.L572V|SYBU_ENST00000424158.2_Missense_Mutation_p.L578V|SYBU_ENST00000528331.1_Missense_Mutation_p.L454V|SYBU_ENST00000408889.3_Missense_Mutation_p.L454V|SYBU_ENST00000440310.1_Missense_Mutation_p.L573V|SYBU_ENST00000408908.2_Missense_Mutation_p.L573V|SYBU_ENST00000529690.1_Missense_Mutation_p.L443V|SYBU_ENST00000433638.1_Missense_Mutation_p.L573V|SYBU_ENST00000528647.1_Missense_Mutation_p.L572V|SYBU_ENST00000533171.1_Missense_Mutation_p.L573V|SYBU_ENST00000419099.1_Missense_Mutation_p.L572V|SYBU_ENST00000529175.1_Missense_Mutation_p.L367V NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 573 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TCTCTCATGAGGCGGTTTGCA 0.547000 12 69 0 0 0.010729 0 0 CACNG5 27091 broad.mit.edu 37 17 64881204 64881204 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:64881204C>T ENST00000533854.1 + 6 912 c.675C>T c.(673-675)tcC>tcT p.S225S CACNG5_ENST00000307139.3_Silent_p.S225S Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 225 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GCAACTGCTCCGATTACTCAG 0.622000 13 35 0 0 0.016723 0 0 SDK1 221935 broad.mit.edu 37 7 4188976 4188976 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:4188976C>T ENST00000404826.2 + 30 4645 c.4506C>T c.(4504-4506)ggC>ggT p.G1502G SDK1_ENST00000389531.3_Silent_p.G1502G NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1502 Fibronectin type-III 9. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGGTCCCGGGCAGCGACGGGG 0.677000 10 22 0 0 0.008291 0 0 TMEM132A 54972 broad.mit.edu 37 11 60699222 60699222 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:60699222G>T ENST00000005286.4 + 6 1234 c.1081G>T c.(1081-1083)Ggc>Tgc p.G361C TMEM132A_ENST00000453848.2_Missense_Mutation_p.G360C NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 360 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CACTGGTGGGGGCGTAGCGGT 0.567000 27 131 1.68575e-08 1.93366e-08 0.034045 1 0 CYP4F3 4051 broad.mit.edu 37 19 15760804 15760804 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:15760804A>T ENST00000221307.7 + 7 777 c.729A>T c.(727-729)atA>atT p.I243I CYP4F3_ENST00000585846.1_Silent_p.I243I|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.I243I|CYP4F3_ENST00000586182.1_Silent_p.I243I NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 243 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TCCTGTACATAGACTTCCTGT 0.562000 7 71 0 0 0.045705 0 0 MYH15 22989 broad.mit.edu 37 3 108100408 108100408 + Splice_Site SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:108100408T>G ENST00000273353.3 - 42 5883 c.e42-2 NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTCTTGAACCTGAAAAACAGA 0.453000 58 98 0 0 0.048971 0 0 RLF 6018 broad.mit.edu 37 1 40705888 40705888 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:40705888G>C ENST00000372771.4 + 8 5541 c.5514G>C c.(5512-5514)gaG>gaC p.E1838D NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1838 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CAATTCATGAGAACCTGACTG 0.398000 15 85 0 0 0.028581 0 0 WDR55 54853 broad.mit.edu 37 5 140048308 140048308 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:140048308G>T ENST00000358337.5 + 4 729 c.492G>T c.(490-492)atG>atT p.M164I NM_017706.4 NP_060176.2 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 164 rRNA processing cytoplasm|nucleolus NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAATGGATATGAGGCAACATG 0.537000 9 38 0.0477658 0.0482965 0.047766 1 0 TMEM167A 153339 broad.mit.edu 37 5 82357723 82357723 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:82357723C>T ENST00000502346.1 - 3 293 c.121G>A c.(121-123)Ggt>Agt p.G41S TMEM167A_ENST00000511450.1_5'UTR NM_174909.4 NP_777569.1 Q8TBQ9 KISHA_HUMAN transmembrane protein 167A 41 Golgi membrane|integral to membrane large_intestine(1)|lung(1) 2 CAAAATATACCCAACAATCTG 0.303000 9 40 0 0 0.008291 0 0 EPHA2 1969 broad.mit.edu 37 1 16477390 16477390 + Splice_Site SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:16477390C>G ENST00000358432.5 - 2 308 c.e2+1 EPHA2_ENST00000461614.1_Intron NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGCTTACATACCCCTTTGCCA 0.617000 37 74 0 0 0.045515 0 0 LRP1B 53353 broad.mit.edu 37 2 141128763 141128763 + Silent SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:141128763A>G ENST00000389484.3 - 70 11831 c.10860T>C c.(10858-10860)gcT>gcC p.A3620A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3620 LDL-receptor class A 28. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGAACCATCAGCACAATCAT 0.303000 TSP Lung(27;0.18) 3 21 0 0 0.004672 0 0 CNTN6 27255 broad.mit.edu 37 3 1444056 1444056 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:1444056A>G ENST00000446702.2 + 22 3499 c.2872A>G c.(2872-2874)Aca>Gca p.T958A CNTN6_ENST00000350110.2_Missense_Mutation_p.T958A|CNTN6_ENST00000539053.1_Missense_Mutation_p.T886A Q9UQ52 CNTN6_HUMAN contactin 6 958 Fibronectin type-III 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AACAAACAATACATCAGCTGA 0.368000 19 21 0 0 0.043863 0 0 GLRB 2743 broad.mit.edu 37 4 158060002 158060002 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:158060002G>T ENST00000264428.4 + 7 922 c.652G>T c.(652-654)Gga>Tga p.G218* GLRB_ENST00000541722.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000509282.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 218 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CTGGCAGTCAGGAGATCCTGT 0.284000 12 70 2.61681e-11 3.24723e-11 0.020292 1 0 TDG 6996 broad.mit.edu 37 12 104373699 104373699 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:104373699G>T ENST00000392872.3 + 3 491 c.257G>T c.(256-258)gGc>gTc p.G86V TDG_ENST00000266775.9_Missense_Mutation_p.G82V|TDG_ENST00000544861.1_5'UTR NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 86 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAAAAATCTGGCAAGTCTGCA 0.338000 Base excision repair (BER), DNA glycosylases 14 79 1.52009e-12 1.92123e-12 0.024245 1 0 WWC1 23286 broad.mit.edu 37 5 167855056 167855056 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:167855056G>T ENST00000265293.4 + 12 2331 c.1829G>T c.(1828-1830)gGg>gTg p.G610V WWC1_ENST00000521089.1_Missense_Mutation_p.G610V NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 610 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACGGCCCAGGGGTGTGGCCTG 0.542000 15 31 6.31663e-08 7.18516e-08 0.024245 1 0 DOCK4 9732 broad.mit.edu 37 7 111379256 111379256 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:111379256G>A ENST00000428084.1 - 49 5438 c.5166C>T c.(5164-5166)aaC>aaT p.N1722N DOCK4_ENST00000494651.2_Silent_p.N596N|DOCK4_ENST00000437633.1_Silent_p.N1713N Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1713 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ACAGGCAAGAGTTTTCTCGGG 0.483000 15 85 0 0 0.038395 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532025 84532025 + RNA SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:84532025T>C ENST00000527857.1 + 0 2047 NR_026851.1 AGGTCCATGTTCCCATCTCCA 0.483000 8 39 0 0 0.047766 0 0 TCL6 27004 broad.mit.edu 37 14 96130030 96130030 + RNA SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:96130030C>A ENST00000467865.1 + 0 438 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) GGACTTTAATCTTAAGTGGAC 0.423000 T TRA@ T-ALL 15 27 2.61681e-11 3.24723e-11 0.020292 1 0 HTR1A 3350 broad.mit.edu 37 5 63256581 63256581 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:63256581C>T ENST00000323865.3 - 1 1199 c.966G>A c.(964-966)gaG>gaA p.E322E RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 322 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CATTTTTCCTCTCGAAAGAGG 0.617000 7 55 0 0 0.038147 0 0 RIPK2 8767 broad.mit.edu 37 8 90798848 90798848 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:90798848G>A ENST00000220751.4 + 9 1371 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K RIPK2_ENST00000540020.1_Missense_Mutation_p.E216K NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 353 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|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 cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TCAGCTCCATGAAAATAGTGG 0.318000 24 112 0 0 0.027356 0 0 KCTD3 51133 broad.mit.edu 37 1 215752341 215752341 + Splice_Site SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:215752341A>G ENST00000259154.4 + 7 691 c.e7-1 NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TTCTCTTTATAGGTATTCCTA 0.333000 4 28 0 0 0.014758 0 0 TECTA 7007 broad.mit.edu 37 11 120984288 120984288 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:120984288C>T ENST00000392793.1 + 6 922 c.651C>T c.(649-651)acC>acT p.T217T TECTA_ENST00000264037.2_Silent_p.T217T O75443 TECTA_HUMAN tectorin alpha 217 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GAAACCTCACCAATTTCTTCA 0.468000 10 53 0 0 0.008291 0 0 GRID1 2894 broad.mit.edu 37 10 87614326 87614326 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:87614326C>A ENST00000327946.7 - 8 1245 c.1160G>T c.(1159-1161)aGt>aTt p.S387I NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 387 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GGGATTCGAACTGTCCTCCCG 0.498000 Multiple Myeloma(13;0.14) 7 67 0.0581538 0.0585829 0.058154 1 0 RIMS3 9783 broad.mit.edu 37 1 41101587 41101587 + Splice_Site SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:41101587C>A ENST00000372684.3 - 4 829 c.e4+1 RIMS3_ENST00000372683.1_Splice_Site NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) GCTGCACGCACGTGCCGTCGG 0.667000 14 55 1.15088e-07 1.30369e-07 0.028581 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68675796 68675796 + Missense_Mutation SNP G G A rs138448914 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:68675796G>A ENST00000255078.3 + 3 551 c.440G>A c.(439-441)cGa>cAa p.R147Q IGHMBP2_ENST00000539224.1_Missense_Mutation_p.R147Q NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 147 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACTTACAGGCGACTGAAAAAG 0.453000 44 57 0 0 0.045515 0 0 FAM208B 54906 broad.mit.edu 37 10 5790610 5790610 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:5790610G>A ENST00000328090.5 + 15 5851 c.5226G>A c.(5224-5226)aaG>aaA p.K1742K NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1742 GTGAAACAAAGGAGCTATTGA 0.498000 13 40 0 0 0.013537 0 0 BEX4 56271 broad.mit.edu 37 X 102471104 102471104 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:102471104C>A ENST00000372695.5 + 3 258 c.23C>A c.(22-24)gCg>gAg p.A8E BEX4_ENST00000372691.3_Missense_Mutation_p.A8E NM_001080425.3 NP_001073894.1 Q9NWD9 BEX4_HUMAN brain expressed, X-linked 4 8 cytoplasm|nucleus endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 9 GAGGAACTAGCGGCAAACAAT 0.512000 20 21 7.21436e-19 9.60742e-19 0.049695 1 0 FER1L5 90342 broad.mit.edu 37 2 97370099 97370099 + RNA SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:97370099G>A ENST00000457909.1 + 0 5452 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 ATTCAGCTCCGGTGAGTGGCA 0.483000 58 120 0 0 0.048971 0 0 DHX8 1659 broad.mit.edu 37 17 41570954 41570954 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:41570954G>A ENST00000262415.3 + 7 1077 c.1005G>A c.(1003-1005)atG>atA p.M335I DHX8_ENST00000540306.1_Missense_Mutation_p.M335I NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 335 S1 motif. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GCCTGAGCATGAAGGTAGGTG 0.527000 15 70 0 0 0.020292 0 0 DCDC1 341019 broad.mit.edu 37 11 31327197 31327197 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:31327197C>A ENST00000597505.1 - 4 718 c.719G>T c.(718-720)gGa>gTa p.G240V DCDC1_ENST00000452803.1_Missense_Mutation_p.G240V P59894 DCDC1_HUMAN doublecortin domain containing 1 240 Doublecortin. intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) AAAGGGCTCTCCCGTTGAAAC 0.413000 31 69 6.05902e-23 8.27056e-23 0.064281 1 0 TRIM58 25893 broad.mit.edu 37 1 248028155 248028155 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:248028155T>A ENST00000366481.3 + 3 713 c.665T>A c.(664-666)cTg>cAg p.L222Q NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 222 intracellular zinc ion binding p.L222P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGAGCCGGCTGGTCCAGCAG 0.692000 7 22 0 0 0.029380 0 0 IPO7 10527 broad.mit.edu 37 11 9459832 9459832 + Splice_Site SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:9459832G>A ENST00000379719.3 + 22 2837 c.2695_splice c.e22+1 p.E899_splice NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 899 Asp-rich. interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) tgatgaAACCGGTAAGGGATT 0.428000 32 33 0 0 0.037714 0 0 CSNK2A1 1457 broad.mit.edu 37 20 489118 489118 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:489118G>T ENST00000217244.3 - 3 453 c.78C>A c.(76-78)taC>taA p.Y26* CSNK2A1_ENST00000460062.1_Intron|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000400217.1_Intron NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 26 axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CATGTGACTCGTAATCCCAGT 0.458000 33 29 1.59361e-14 2.05215e-14 0.027894 1 0 PCDHA2 56146 broad.mit.edu 37 5 140184653 140184653 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:140184653C>T ENST00000520672.2 + 2 2503 c.2397C>T c.(2395-2397)aaC>aaT p.N799N PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATATGGAACTTCAATCTTC 0.358000 6 8 0 0 0.047766 0 0 PDX1 3651 broad.mit.edu 37 13 28498541 28498541 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr13:28498541G>C ENST00000381033.4 + 2 674 c.555G>C c.(553-555)ttG>ttC p.L185F NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 185 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) TGTTGAACTTGACCGAGAGAC 0.587000 5 71 0 0 0.021553 0 0 ITPR2 3709 broad.mit.edu 37 12 26818845 26818845 + Nonsense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:26818845G>A ENST00000381340.3 - 14 1965 c.1549C>T c.(1549-1551)Cag>Tag p.Q517* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 517 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AAATTCACCTGTGCCAGTATG 0.343000 21 50 0 0 0.016522 0 0 GALNT14 79623 broad.mit.edu 37 2 31133837 31133837 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:31133837C>G ENST00000349752.5 - 15 2228 c.1589G>C c.(1588-1590)gGc>gCc p.G530A GALNT14_ENST00000406653.1_Missense_Mutation_p.G510A|GALNT14_ENST00000420311.2_Missense_Mutation_p.G495A|GALNT14_ENST00000324589.5_Missense_Mutation_p.G535A|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.G497A NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 530 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GATTTCCTTGCCGTTCTCGGT 0.542000 16 71 0 0 0.043863 0 0 ACAN 176 broad.mit.edu 37 15 89398229 89398229 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:89398229C>A ENST00000439576.2 + 12 2787 c.2413C>A c.(2413-2415)Cca>Aca p.P805T ACAN_ENST00000561243.1_Missense_Mutation_p.P805T|ACAN_ENST00000559004.1_Missense_Mutation_p.P805T|ACAN_ENST00000352105.7_Missense_Mutation_p.P805T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 805 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) CTCAGAGGAACCATTCCCCTC 0.602000 7 8 0.000157383 0.000165252 0.038147 1 0 ABCA13 154664 broad.mit.edu 37 7 48312325 48312325 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:48312325T>A ENST00000435803.1 + 17 3086 c.3062T>A c.(3061-3063)cTt>cAt p.L1021H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1021 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCAGAGGTTCTTGGGGGAATT 0.338000 8 13 0 0 0.038147 0 0 PCDH10 57575 broad.mit.edu 37 4 134073285 134073285 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:134073285G>T ENST00000264360.4 + 1 2816 c.1990G>T c.(1990-1992)Ggg>Tgg p.G664W NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 664 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GCGCGACCATGGGCAGCCGCC 0.731000 5 35 0.000602214 0.000622744 0.014758 1 0 NPPB 4879 broad.mit.edu 37 1 11918291 11918291 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:11918291G>A ENST00000376468.3 - 2 465 c.368C>T c.(367-369)tCc>tTc p.S123F NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 123 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) CAGGCCACTGGAGGAGCTGAT 0.602000 23 32 0 0 0.018920 0 0 IFIH1 64135 broad.mit.edu 37 2 163134806 163134806 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:163134806C>A ENST00000263642.2 - 9 2069 c.1674G>T c.(1672-1674)atG>atT p.M558I NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 558 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 GAATCCTTGTCATTATTTCTA 0.289000 5 38 1.23904e-05 1.3265e-05 0.014758 1 0 KRT34 3885 broad.mit.edu 37 17 39538432 39538432 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:39538432G>T ENST00000394001.1 - 1 223 c.193C>A c.(193-195)Ccc>Acc p.P65T NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 65 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CAGCTGGGGGGCACGCAGGGC 0.622000 19 72 1.01871e-10 1.25274e-10 0.049695 1 0 CDHR2 54825 broad.mit.edu 37 5 176005489 176005489 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:176005489G>A ENST00000510636.1 + 16 1972 c.1698G>A c.(1696-1698)ctG>ctA p.L566L CDHR2_ENST00000261944.5_Silent_p.L566L|CDHR2_ENST00000506348.1_Silent_p.L566L NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 566 Cadherin 5. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GCGGGAACCTGTCCTCCTCCA 0.627000 4 23 0 0 0.014758 0 0 QSOX1 5768 broad.mit.edu 37 1 180159622 180159622 + Missense_Mutation SNP C C T rs143670617 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:180159622C>T ENST00000367602.3 + 10 1269 c.1195C>T c.(1195-1197)Cat>Tat p.H399Y QSOX1_ENST00000367600.5_Missense_Mutation_p.H399Y O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 399 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GAGTGAGCCGCATTTCCGGGG 0.557000 50 121 0 0 0.048971 0 0 LIN7A 8825 broad.mit.edu 37 12 81331469 81331469 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:81331469C>A ENST00000552864.1 - 1 235 c.33G>T c.(31-33)acG>acT p.T11T NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 11 exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 CCATGTCTGCCGTGGGAGCCG 0.637000 6 13 0.00198382 0.00203602 0.029380 1 0 KIF2B 84643 broad.mit.edu 37 17 51900732 51900732 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:51900732C>T ENST00000268919.4 + 1 494 c.338C>T c.(337-339)aCg>aTg p.T113M NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 113 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.T113M(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CGTACCGCCACGAAATGGGTT 0.592000 19 92 0 0 0.043863 0 0 COL19A1 1310 broad.mit.edu 37 6 70778326 70778326 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:70778326G>T ENST00000322773.4 + 15 1284 c.1182G>T c.(1180-1182)ggG>ggT p.G394G COL19A1_ENST00000393344.1_Silent_p.G16G NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 394 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GTTCCCTGGGGATACAAGGCC 0.418000 13 38 1.67942e-08 1.93366e-08 0.038395 1 0 TSR3 115939 broad.mit.edu 37 16 1400139 1400139 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:1400139C>A ENST00000007390.2 - 4 729 c.623G>T c.(622-624)tGc>tTc p.C208F NM_001001410.2 NP_001001410.1 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) CGGGCTGCCGCAGGCCGCGTA 0.622000 17 18 1.5739e-10 1.92679e-10 0.028581 1 0 SLC35F3 148641 broad.mit.edu 37 1 234367481 234367481 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:234367481G>A ENST00000366618.3 + 3 747 c.602G>A c.(601-603)cGa>cAa p.R201Q SLC35F3_ENST00000366617.3_Missense_Mutation_p.R132Q NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 132 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GTGAAGCAGCGATACAGGTAG 0.597000 23 138 0 0 0.014323 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4499579 4499579 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:4499579A>G ENST00000301284.4 + 14 1731 c.1667A>G c.(1666-1668)gAg>gGg p.E556G HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E556G NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 556 transcription, DNA-dependent nucleus DNA binding|protein binding CCAAAGATCgaggcggtgcag 0.622000 8 3 0 0 0.038147 0 0 EDN3 1908 broad.mit.edu 37 20 57896161 57896161 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:57896161C>T ENST00000311585.7 + 3 825 c.455C>T c.(454-456)tCa>tTa p.S152L EDN3_ENST00000395654.3_Missense_Mutation_p.S152L|EDN3_ENST00000371025.3_Missense_Mutation_p.S152L|EDN3_ENST00000371028.2_Missense_Mutation_p.S152L|EDN3_ENST00000337938.2_Missense_Mutation_p.S152L NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 152 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) CTGCAGCTCTCACATCGGCCA 0.582000 33 77 0 0 0.054565 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919048 8919048 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:8919048G>T ENST00000256707.3 - 19 2773 c.2592C>A c.(2590-2592)gaC>gaA p.D864E KIDINS220_ENST00000418530.1_Missense_Mutation_p.D822E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D864E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D864E|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D865E NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 864 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGCATGGAACGTCTCCATTTG 0.398000 17 114 1.33834e-09 1.59548e-09 0.043863 1 0 FBXO18 84893 broad.mit.edu 37 10 5953002 5953002 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:5953002G>T ENST00000379999.5 + 7 1379 c.1275G>T c.(1273-1275)acG>acT p.T425T FBXO18_ENST00000379994.1_Silent_p.T111T|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.T374T NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 374 K -> N (in Ref. 2; AAP97705). DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 CCAGCTCCACGGTGACCATGC 0.582000 17 96 1.33834e-09 1.59548e-09 0.043863 1 0 ZNF506 440515 broad.mit.edu 37 19 19905448 19905448 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:19905448C>G ENST00000443905.2 - 4 1395 c.1248G>C c.(1246-1248)aaG>aaC p.K416N ZNF506_ENST00000450683.2_Missense_Mutation_p.K384N|ZNF506_ENST00000540806.2_Missense_Mutation_p.K416N|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA Q5JVG8 ZN506_HUMAN zinc finger protein 506 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 TATGAATTTTCTTATGTTTAT 0.338000 28 29 0 0 0.030593 0 0 PCLO 27445 broad.mit.edu 37 7 82582945 82582945 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:82582945T>A ENST00000423517.2 - 5 7661 c.7324A>T c.(7324-7326)Aag>Tag p.K2442* PCLO_ENST00000333891.8_Nonsense_Mutation_p.K2442* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2373 Pro-rich. 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 ACTGTTAACTTTTTTTTAGGA 0.498000 3 12 0 0 0.004672 0 0 MBD5 55777 broad.mit.edu 37 2 149226943 149226943 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:149226943A>T ENST00000407073.1 + 9 2428 c.1431A>T c.(1429-1431)gtA>gtT p.V477V MBD5_ENST00000404807.1_Silent_p.V477V NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 477 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TGCCACCTGTAGGACCCCAGG 0.502000 7 31 0 0 0.029380 0 0 OR52N4 390072 broad.mit.edu 37 11 5776293 5776293 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:5776293C>G ENST00000317254.3 + 1 371 c.323C>G c.(322-324)aCc>aGc p.T108S TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TTCACCCACACCTTCACAGGG 0.483000 18 72 0 0 0.043863 0 0 FAM184A 79632 broad.mit.edu 37 6 119341265 119341265 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:119341265C>A ENST00000338891.7 - 4 1653 c.1210G>T c.(1210-1212)Gaa>Taa p.E404* FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E284*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E284*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E404*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E284*|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 404 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTTTCTGATTCTAAATCTTTA 0.363000 13 35 9.05144e-12 1.13873e-11 0.016723 1 0 TRPM3 80036 broad.mit.edu 37 9 73150933 73150933 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:73150933C>A ENST00000377110.2 - 25 5303 c.5060G>T c.(5059-5061)aGc>aTc p.S1687I TRPM3_ENST00000377106.1_Missense_Mutation_p.S1559I|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1546I|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1536I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1691I|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1549I|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1559I|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1714I|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1549I|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1546I NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1712 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CATGGACAGGCTGTCCCCTCG 0.522000 40 72 2.19489e-29 3.05716e-29 0.025465 1 0 FMO4 2329 broad.mit.edu 37 1 171310604 171310604 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:171310604G>T ENST00000367749.3 + 10 1633 c.1303G>T c.(1303-1305)Gat>Tat p.D435Y NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 435 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGCCTACATGGATGATATCGC 0.473000 18 34 1.45105e-14 1.87743e-14 0.038395 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886180 88886180 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:88886180C>G ENST00000319675.3 - 1 116 c.20G>C c.(19-21)cGa>cCa p.R7P NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 7 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTCGAGCAGTCGCGGTCTTTT 0.522000 14 34 0 0 0.020292 0 0 RGL1 23179 broad.mit.edu 37 1 183876207 183876207 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:183876207C>T ENST00000304685.3 + 15 2100 c.1639C>T c.(1639-1641)Cgg>Tgg p.R547W RGL1_ENST00000539189.1_Missense_Mutation_p.R483W|RGL1_ENST00000360851.3_Missense_Mutation_p.R512W|RGL1_ENST00000367531.1_Missense_Mutation_p.R547W|RGL1_ENST00000536277.1_Missense_Mutation_p.R510W NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 512 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GCCCAAGCCTCGGAAGAGCAT 0.557000 7 8 0 0 0.047766 0 0 CEP112 201134 broad.mit.edu 37 17 64062993 64062993 + Silent SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:64062993A>G ENST00000392769.2 - 10 1076 c.858T>C c.(856-858)atT>atC p.I286I CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000537949.1_Silent_p.I244I|CEP112_ENST00000535342.2_Silent_p.I286I NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 286 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 TTCTTTCTAAAATCTGCAAAT 0.244000 7 13 0 0 0.029380 0 0 WDR78 79819 broad.mit.edu 37 1 67292591 67292591 + Missense_Mutation SNP A A C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:67292591A>C ENST00000371026.3 - 15 2306 c.2251T>G c.(2251-2253)Tac>Gac p.Y751D WDR78_ENST00000431318.1_Missense_Mutation_p.Y464D NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 751 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GCAACGTCGTAAACAACAGAA 0.398000 21 94 0 0 0.055883 0 0 CILP 8483 broad.mit.edu 37 15 65490300 65490300 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:65490300A>G ENST00000261883.4 - 9 2490 c.2324T>C c.(2323-2325)aTc>aCc p.I775T NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 775 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 AATCACGGAGATCACAACCCC 0.562000 54 87 0 0 0.048971 0 0 NPHS1 4868 broad.mit.edu 37 19 36340485 36340485 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:36340485G>T ENST00000378910.5 - 6 678 c.679C>A c.(679-681)Ccc>Acc p.P227T NPHS1_ENST00000353632.6_Missense_Mutation_p.P227T NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 227 Ig-like C2-type 2. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCTTGATGGGGGCCTCCAGT 0.587000 28 55 1.30988e-24 1.80604e-24 0.045705 1 0 WBP11P1 441818 broad.mit.edu 37 18 30092097 30092097 + RNA SNP C C T rs718721 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:30092097C>T ENST00000567636.1 + 0 472 NR_003558.1 TATTCTATGACTCTATGAAAA 0.348000 3 10 0 0 0.004672 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757693 99757693 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:99757693C>A ENST00000360039.4 - 4 1711 c.1319G>T c.(1318-1320)cGg>cTg p.R440L GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378L|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440L NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 440 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAATCCACTCCGAAGTATATA 0.557000 14 67 1.05317e-09 1.26659e-09 0.020292 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37419231 37419231 + Nonsense_Mutation SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:37419231T>G ENST00000374660.1 + 3 366 c.267T>G c.(265-267)taT>taG p.Y89* ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y89*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y89* Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 145 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTCTCCATTATGCTGTTTATA 0.433000 16 32 0 0 0.028581 0 0 PAPPA 5069 broad.mit.edu 37 9 119097340 119097340 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:119097340C>A ENST00000328252.3 + 13 3967 c.3598C>A c.(3598-3600)Cct>Act p.P1200T PAPPA_ENST00000534838.1_Missense_Mutation_p.P238T NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1200 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GACCTACAGCCCTGCCGAGCA 0.617000 9 54 0.00829132 0.00844601 0.008291 1 0 EGLN1 54583 broad.mit.edu 37 1 231556851 231556851 + Missense_Mutation SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:231556851T>G ENST00000366641.3 - 1 3939 c.784A>C c.(784-786)Aag>Cag p.K262Q NM_022051.2 NP_071334.1 Q9GZT9 EGLN1_HUMAN egl-9 family hypoxia-inducible factor 1 262 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) CCGGGCTCCTTGCCCTCGATC 0.592000 58 66 0 0 0.048971 0 0 PIGK 10026 broad.mit.edu 37 1 77627356 77627356 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:77627356C>A ENST00000370812.3 - 7 648 c.625G>T c.(625-627)Gca>Tca p.A209S PIGK_ENST00000359130.1_Missense_Mutation_p.A209S|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.A133S|PIGK_ENST00000445065.1_Missense_Mutation_p.A115S NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 209 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 TACATGGATGCTCCTTGGCAA 0.358000 35 59 1.36161e-19 1.83114e-19 0.019004 1 0 SLC30A2 7780 broad.mit.edu 37 1 26370885 26370885 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:26370885G>T ENST00000374276.3 - 3 558 c.322C>A c.(322-324)Ctc>Atc p.L108I SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374278.3_Intron NM_001004434.1 NP_001004434.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 90 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) AAGTCAGTGAGCAGGTGTGCT 0.597000 5 17 5.9392e-07 6.59106e-07 0.021553 1 0 STXBP4 252983 broad.mit.edu 37 17 53158524 53158524 + Missense_Mutation SNP G G A rs35447433 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:53158524G>A ENST00000376352.2 + 16 1676 c.1469G>A c.(1468-1470)cGt>cAt p.R490H STXBP4_ENST00000434978.2_Missense_Mutation_p.R468H NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 490 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 AAATCTGTTCGTGCCTTACTT 0.378000 7 14 0 0 0.029380 0 0 ZNF135 7694 broad.mit.edu 37 19 58579086 58579086 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:58579086T>A ENST00000506786.1 + 5 1662 c.1108T>A c.(1108-1110)Tgt>Agt p.C370S ZNF135_ENST00000439855.2_Missense_Mutation_p.C412S|ZNF135_ENST00000313434.5_Missense_Mutation_p.C412S|ZNF135_ENST00000401053.4_Missense_Mutation_p.C436S|ZNF135_ENST00000511556.1_Missense_Mutation_p.C424S|ZNF135_ENST00000359978.6_Intron B4DHH9 B4DHH9_HUMAN zinc finger protein 135 424 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) GCCCTATGAGTGTGGTGAGTG 0.542000 18 25 0 0 0.033300 0 0 COL11A1 1301 broad.mit.edu 37 1 103405901 103405901 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:103405901A>T ENST00000358392.2 - 43 3719 c.3402T>A c.(3400-3402)ccT>ccA p.P1134P COL11A1_ENST00000353414.4_Silent_p.P1083P|COL11A1_ENST00000370096.3_Silent_p.P1122P|COL11A1_ENST00000512756.1_Silent_p.P1006P NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1122 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CGTCTTCCCCAGGGGAGCCGG 0.463000 25 39 0 0 0.045705 0 0 MYEOV2 150678 broad.mit.edu 37 2 241066107 241066107 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:241066107C>A ENST00000307266.3 - 5 631 c.632G>T c.(631-633)aGc>aTc p.S211I NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCTGTCTTCGCTGACCTCTCG 0.478000 41 57 2.66277e-13 3.38109e-13 0.027894 1 0 IGKV1D-17 28900 broad.mit.edu 37 2 90122049 90122049 + RNA SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:90122049T>A ENST00000483379.1 + 0 448 GCAGTGGATCTGGGACAGAAT 0.483000 61 96 0 0 0.048971 0 0 LPHN3 23284 broad.mit.edu 37 4 62758534 62758534 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:62758534C>G ENST00000512091.1 + 9 2184 c.1437C>G c.(1435-1437)gaC>gaG p.D479E LPHN3_ENST00000514996.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514591.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514157.1_Missense_Mutation_p.D479E|LPHN3_ENST00000508946.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506700.1_Missense_Mutation_p.D479E|LPHN3_ENST00000507625.1_Missense_Mutation_p.D547E|LPHN3_ENST00000506720.1_Missense_Mutation_p.D547E|LPHN3_ENST00000504896.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506746.1_Missense_Mutation_p.D547E|LPHN3_ENST00000545650.1_Missense_Mutation_p.D479E|LPHN3_ENST00000511324.1_Missense_Mutation_p.D547E|LPHN3_ENST00000509896.1_Missense_Mutation_p.D547E|LPHN3_ENST00000508693.1_Missense_Mutation_p.D547E|LPHN3_ENST00000507164.1_Missense_Mutation_p.D547E Q9HAR2 LPHN3_HUMAN latrophilin 3 479 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TACTTGATGACATGACCACAC 0.527000 9 42 0 0 0.058154 0 0 C11orf52 91894 broad.mit.edu 37 11 111796827 111796827 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:111796827G>T ENST00000278601.5 + 4 372 c.276G>T c.(274-276)gtG>gtT p.V92V C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR NM_080659.2 NP_542390.2 Q96A22 CK052_HUMAN chromosome 11 open reading frame 52 92 lung(2)|ovary(1) 3 all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) CCCGGGAAGTGAAACACGTGC 0.552000 7 49 8.12818e-05 8.56755e-05 0.029380 1 0 PCDHA8 56140 broad.mit.edu 37 5 140223207 140223207 + Silent SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:140223207G>C ENST00000531613.1 + 1 2301 c.2301G>C c.(2299-2301)acG>acC p.T767T PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.T767T|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGAAGACGGACCTCATGG 0.572000 12 33 0 0 0.013537 0 0 NCAM1 4684 broad.mit.edu 37 11 113105876 113105876 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:113105876G>A ENST00000316851.7 + 13 1785 c.1785G>A c.(1783-1785)acG>acA p.T595T NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.T604T|NCAM1_ENST00000533760.1_Silent_p.T477T NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 605 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGTTCAAGACGCAGCCAGTCC 0.622000 5 17 0 0 0.014758 0 0 TRPC5 7224 broad.mit.edu 37 X 111097062 111097062 + Silent SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:111097062T>A ENST00000262839.2 - 4 2091 c.1173A>T c.(1171-1173)acA>acT p.T391T NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 391 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CATGAAGGTCTGTCCTGACAA 0.483000 46 28 0 0 0.048971 0 0 ST5 6764 broad.mit.edu 37 11 8737365 8737365 + Splice_Site SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:8737365G>C ENST00000534127.1 - 9 2015 c.1629_splice c.e9-1 p.L544_splice ST5_ENST00000357665.1_Splice_Site_p.L544_splice|ST5_ENST00000313726.6_Splice_Site_p.L544_splice|ST5_ENST00000526757.1_Splice_Site_p.L124_splice|ST5_ENST00000526099.1_Splice_Site_p.L57_splice|ST5_ENST00000530991.1_Splice_Site_p.L16_splice|ST5_ENST00000530438.1_Splice_Site_p.L124_splice NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 544 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TTCAGGGAAAGCTGGCGTGGG 0.632000 18 42 0 0 0.038395 0 0 OR4N2 390429 broad.mit.edu 37 14 20296501 20296501 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:20296501G>T ENST00000315947.1 + 1 894 c.894G>T c.(892-894)atG>atT p.M298I OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGCTTCCATGAAAAAGGTGT 0.353000 14 28 1.5842e-08 1.83257e-08 0.016723 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374223 95374223 + RNA SNP A A G rs9839680 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:95374223A>G ENST00000494840.1 - 0 1638 NR_077228.1 ACGTATGTGCAGTGACATTAC 0.428000 3 29 0 0 0.009096 0 0 AC008268.2 0 broad.mit.edu 37 2 96457948 96457948 + RNA SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:96457948C>T ENST00000471661.1 + 0 116 GTGACTGGTTCGTGGTTCTTC 0.562000 4 18 0 0 0.021553 0 0 ZNF471 57573 broad.mit.edu 37 19 57035697 57035697 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:57035697G>T ENST00000308031.5 + 5 394 c.261G>T c.(259-261)tgG>tgT p.W87C ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) TTTCAGATTGGGAATCTATAT 0.333000 14 50 2.23348e-06 2.43896e-06 0.028581 1 0 KIAA1429 25962 broad.mit.edu 37 8 95538791 95538791 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:95538791C>T ENST00000297591.5 - 8 1756 c.1681G>A c.(1681-1683)Gaa>Aaa p.E561K KIAA1429_ENST00000437199.1_Missense_Mutation_p.E561K|KIAA1429_ENST00000421249.2_Missense_Mutation_p.E561K NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 561 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GACAAGACTTCATAGAAATGG 0.403000 33 164 0 0 0.064281 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204425081 204425081 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:204425081G>A ENST00000367187.3 - 12 2402 c.1846C>T c.(1846-1848)Cgc>Tgc p.R616C PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616C|PIK3C2B_ENST00000496872.1_5'UTR NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 616 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TCATGCTTGCGGCTCCCGGGC 0.612000 39 64 0 0 0.042209 0 0 MYOCD 93649 broad.mit.edu 37 17 12661501 12661501 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:12661501C>T ENST00000425538.1 + 12 2502 c.2302C>T c.(2302-2304)Cct>Tct p.P768S MYOCD_ENST00000395988.1_Missense_Mutation_p.P672S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P720S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 720 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGTAACACAGCCTCCATCCTA 0.393000 11 49 0 0 0.010729 0 0 SMEK2 57223 broad.mit.edu 37 2 55831140 55831140 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:55831140C>T ENST00000272313.5 - 3 598 c.271G>A c.(271-273)Gat>Aat p.D91N SMEK2_ENST00000407823.3_Missense_Mutation_p.D91N|SMEK2_ENST00000345102.5_Missense_Mutation_p.D91N NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 91 WH1. microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAGATCTCATCACAGCCAGCT 0.299000 16 65 0 0 0.055883 0 0 ACTG1 71 broad.mit.edu 37 17 79478246 79478246 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:79478246C>T ENST00000575842.1 - 3 1196 c.770G>A c.(769-771)tGt>tAt p.C257Y ACTG1_ENST00000573283.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000575087.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000331925.2_Missense_Mutation_p.C257Y P63261 ACTG_HUMAN actin, gamma 1 257 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CGCCTCCGGACACCGGAACCG 0.577000 18 108 0 0 0.055883 0 0 SVEP1 79987 broad.mit.edu 37 9 113163273 113163273 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:113163273T>C ENST00000401783.2 - 40 10019 c.9683A>G c.(9682-9684)gAg>gGg p.E3228G SVEP1_ENST00000374469.1_Missense_Mutation_p.E3205G|SVEP1_ENST00000297826.5_Missense_Mutation_p.E1154G NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3228 Sushi 30. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GAATGGTGGCTCCCAGGTTCC 0.368000 14 29 0 0 0.024245 0 0 PCCB 5096 broad.mit.edu 37 3 135969356 135969356 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:135969356C>T ENST00000471595.1 + 1 157 c.139C>T c.(139-141)Ctg>Ttg p.L47L PCCB_ENST00000483687.1_Silent_p.L47L|PCCB_ENST00000478469.1_Silent_p.L47L|PCCB_ENST00000490504.1_Silent_p.L47L|PCCB_ENST00000469217.1_Silent_p.L47L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000462637.1_Silent_p.L47L|PCCB_ENST00000468777.1_Silent_p.L47L|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000466072.1_Silent_p.L47L|PCCB_ENST00000251654.4_Silent_p.L47L P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 47 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) CCGGACCGCGCTGCTGGGAGG 0.667000 OREG0015823 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 16 0 0 0.010729 0 0 MYOM1 8736 broad.mit.edu 37 18 3116435 3116435 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:3116435C>T ENST00000400569.3 - 21 3530 c.3197G>A c.(3196-3198)gGg>gAg p.G1066E MYOM1_ENST00000261606.7_Missense_Mutation_p.G970E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G1066E P52179 MYOM1_HUMAN myomesin 1 1066 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CGGAGTCCGCCCGGAGTGGAC 0.547000 22 23 0 0 0.021523 0 0 AHNAK 79026 broad.mit.edu 37 11 62289123 62289123 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:62289123T>C ENST00000378024.4 - 5 13040 c.12766A>G c.(12766-12768)Aag>Gag p.K4256E AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4256 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATGGAGATCTTGGGGGCTTTG 0.478000 61 327 0 0 0.048971 0 0 SYNE1 23345 broad.mit.edu 37 6 152665276 152665276 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:152665276G>T ENST00000367255.5 - 74 12766 c.12165C>A c.(12163-12165)gtC>gtA p.V4055V SYNE1_ENST00000423061.1_Silent_p.V3984V|SYNE1_ENST00000448038.1_Silent_p.V3984V|SYNE1_ENST00000341594.5_Silent_p.V3920V|SYNE1_ENST00000265368.4_Silent_p.V4055V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4055 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.V4055V(2)|p.V3984V(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATCCGGCTGGACTGCAGAAA 0.483000 HNSCC(10;0.0054) 42 39 3.61848e-18 4.79536e-18 0.030466 1 0 ZHX3 23051 broad.mit.edu 37 20 39832794 39832794 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:39832794C>A ENST00000309060.3 - 4 1178 c.763G>T c.(763-765)Ggg>Tgg p.G255W ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.G255W|ZHX3_ENST00000544979.2_Missense_Mutation_p.G255W|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.G255W|ZHX3_ENST00000540170.1_Missense_Mutation_p.G255W|ZHX3_ENST00000559234.1_Missense_Mutation_p.G255W Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 255 Required for homodimerization and interaction with NFYA. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) ATCAGGGGCCCGTTGGCGGCA 0.582000 22 69 1.87028e-06 2.05055e-06 0.062417 1 0 LRP1B 53353 broad.mit.edu 37 2 141571366 141571366 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:141571366A>G ENST00000389484.3 - 32 6190 c.5219T>C c.(5218-5220)aTa>aCa p.I1740T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1740 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACATAGTCTATCGATAGACC 0.343000 TSP Lung(27;0.18) 7 58 0 0 0.047766 0 0 HIF3A 64344 broad.mit.edu 37 19 46815462 46815462 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:46815462G>C ENST00000339613.2 + 7 902 c.647G>C c.(646-648)tGt>tCt p.C216S HIF3A_ENST00000300862.3_Missense_Mutation_p.C270S|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Missense_Mutation_p.C203S|HIF3A_ENST00000472815.1_Missense_Mutation_p.C203S|HIF3A_ENST00000420102.2_Missense_Mutation_p.C221S|HIF3A_ENST00000600383.1_Missense_Mutation_p.C203S|HIF3A_ENST00000377670.4_Missense_Mutation_p.C272S Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CTGATCGGCTGTTCCGCCTAC 0.602000 57 98 0 0 0.048971 0 0 GRM3 2913 broad.mit.edu 37 7 86479718 86479718 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:86479718C>T ENST00000394720.2 + 4 1528 c.1351C>T c.(1351-1353)Cct>Tct p.P451S GRM3_ENST00000361669.2_Silent_p.S808S|GRM3_ENST00000546348.1_Silent_p.S400S|GRM3_ENST00000536043.1_Silent_p.S680S|GRM3_ENST00000439827.1_Missense_Mutation_p.P453S Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 0 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCTCTGTCAGCCTGAGTGGCT 0.488000 17 30 0 0 0.043863 0 0 SGSM3 27352 broad.mit.edu 37 22 40800432 40800432 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:40800432C>T ENST00000248929.9 + 5 528 c.339C>T c.(337-339)gcC>gcT p.A113A SGSM3_ENST00000454798.2_Silent_p.A46A NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 113 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 TGGTGCTGGCCGGCATCCCAC 0.607000 23 12 0 0 0.018920 0 0 SEMA5A 9037 broad.mit.edu 37 5 9190523 9190523 + Missense_Mutation SNP G G C rs147170997 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:9190523G>C ENST00000382496.5 - 11 1794 c.1129C>G c.(1129-1131)Cag>Gag p.Q377E NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 377 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATGAACTTCTGAGCATCCTGC 0.577000 23 33 0 0 0.016522 0 0 ZNF398 57541 broad.mit.edu 37 7 148851047 148851047 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:148851047G>T ENST00000475153.1 + 2 302 c.35G>T c.(34-36)tGg>tTg p.W12L ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W17L|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR Q8TD17 ZN398_HUMAN zinc finger protein 398 12 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) ACATCTGAATGGGACTCCGAG 0.493000 21 88 2.98393e-07 3.35232e-07 0.016522 1 0 C12orf40 283461 broad.mit.edu 37 12 40076610 40076610 + Missense_Mutation SNP A A C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:40076610A>C ENST00000324616.5 + 8 1038 c.884A>C c.(883-885)aAt>aCt p.N295T C12orf40_ENST00000398716.1_Missense_Mutation_p.N218T|C12orf40_ENST00000405531.3_Missense_Mutation_p.N295T NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 295 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 CTATCAGAGAATTGTGACTCT 0.318000 34 81 0 0 0.045705 0 0 ARID1A 8289 broad.mit.edu 37 1 27100151 27100151 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:27100151C>A ENST00000324856.7 + 16 4318 c.3947C>A c.(3946-3948)tCg>tAg p.S1316* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1316*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S933*|ARID1A_ENST00000540690.1_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1316 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AACCCAGACTCGGGGATGTAT 0.587000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 41 38 9.39024e-22 1.27539e-21 0.036044 1 0 UNC79 57578 broad.mit.edu 37 14 94088414 94088414 + Nonsense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:94088414C>G ENST00000553484.1 + 31 5055 c.4901C>G c.(4900-4902)tCa>tGa p.S1634* UNC79_ENST00000555664.1_Nonsense_Mutation_p.S1612*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.S1435*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.S1612* Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1612 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GATCTATCCTCAGATTCAACC 0.468000 36 97 0 0 0.054565 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502529 90502529 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:90502529C>T ENST00000325643.5 + 4 3193 c.3127C>T c.(3127-3129)Cca>Tca p.P1043S NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GGAGAAGCCCCCAACTTGGGA 0.602000 9 60 0 0 0.058154 0 0 BRIP1 83990 broad.mit.edu 37 17 59763514 59763514 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:59763514C>A ENST00000259008.2 - 19 2855 c.2588G>T c.(2587-2589)tGg>tTg p.W863L BRIP1_ENST00000577598.1_Missense_Mutation_p.W863L NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 863 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CTGCCGTACCCATTTAGAAAG 0.348000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 6 80 3.86212e-05 4.08666e-05 0.008291 1 0 ATP2B3 492 broad.mit.edu 37 X 152807330 152807330 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:152807330C>A ENST00000370186.1 + 4 936 c.610C>A c.(610-612)Ctc>Atc p.L204I ATP2B3_ENST00000263519.4_Missense_Mutation_p.L204I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L204I|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L204I Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 204 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGGCAGCTCCTCCAGGTCCC 0.622000 61 27 3.07184e-27 4.25692e-27 0.048971 1 0 GFRA1 2674 broad.mit.edu 37 10 118029071 118029071 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:118029071T>A ENST00000439649.3 - 4 729 c.362A>T c.(361-363)tAt>tTt p.Y121F GFRA1_ENST00000355422.6_Missense_Mutation_p.Y121F|GFRA1_ENST00000369236.1_Missense_Mutation_p.Y121F NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 121 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) AACTGGTTCATATGGGGAATC 0.403000 8 49 0 0 0.047766 0 0 HUWE1 10075 broad.mit.edu 37 X 53672318 53672318 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:53672318C>G ENST00000342160.3 - 6 906 c.449G>C c.(448-450)cGt>cCt p.R150P HUWE1_ENST00000262854.6_Missense_Mutation_p.R150P|HUWE1_ENST00000218328.8_Missense_Mutation_p.R150P Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 150 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGATCCCAGACGAGTGATGTA 0.458000 16 14 0 0 0.028581 0 0 BRD8 10902 broad.mit.edu 37 5 137476488 137476488 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:137476488A>G ENST00000254900.5 - 26 3892 c.3521T>C c.(3520-3522)cTg>cCg p.L1174P NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1174 Bromo 2. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTGGAACATCAGCATCAGGTC 0.483000 60 255 0 0 0.048971 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100441774 100441774 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:100441774C>A ENST00000279907.7 - 18 4131 c.3919G>T c.(3919-3921)Gca>Tca p.A1307S UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A957S NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1307 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 ATTACTGTTGCAACAGTTTCA 0.279000 11 15 1.58986e-06 1.75013e-06 0.008291 1 0 USP17L2 377630 broad.mit.edu 37 8 11994697 11994697 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:11994697C>A ENST00000333796.3 - 1 1889 c.1573G>T c.(1573-1575)Gct>Tct p.A525S FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 525 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 ACAAGCAGAGCCCTCTTGCTG 0.577000 12 42 1.05317e-09 1.26659e-09 0.020292 1 0 CFH 3075 broad.mit.edu 37 1 196643062 196643062 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:196643062G>T ENST00000367429.4 + 3 560 c.320G>T c.(319-321)gGt>gTt p.G107V CFH_ENST00000439155.2_Missense_Mutation_p.G107V|CFH_ENST00000359637.2_Missense_Mutation_p.G107V NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 107 Sushi 2. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTTGAATATGGTGTAAAAGCT 0.333000 20 127 1.22574e-08 1.42394e-08 0.014323 1 0 OR52N5 390075 broad.mit.edu 37 11 5799295 5799295 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:5799295G>A ENST00000317093.2 - 1 602 c.570C>T c.(568-570)caC>caT p.H190H TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CTACAGACATGTGGTCGCAGT 0.423000 4 65 0 0 0.009096 0 0 MMEL1 79258 broad.mit.edu 37 1 2540804 2540804 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:2540804G>A ENST00000288709.6 - 6 722 c.482C>T c.(481-483)aCg>aTg p.T161M MMEL1_ENST00000378412.3_Missense_Mutation_p.T170M|MMEL1_ENST00000502556.1_Intron NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 170 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GCGGTACAGCGTCCTGGCCTT 0.687000 6 5 0 0 0.038147 0 0 FBXL13 222235 broad.mit.edu 37 7 102604000 102604000 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:102604000G>T ENST00000393772.2 - 8 1130 c.704C>A c.(703-705)cCc>cAc p.P235H FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379305.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379308.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P235H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P235H|FBXL13_ENST00000456695.1_Missense_Mutation_p.P235H|FBXL13_ENST00000313221.4_Missense_Mutation_p.P235H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P235H Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 235 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GAAAGTTTTGGGTCGGAGAAG 0.328000 20 55 3.62473e-10 4.39801e-10 0.062417 1 0 DOCK1 1793 broad.mit.edu 37 10 129183096 129183096 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:129183096G>C ENST00000280333.6 + 38 3896 c.3787G>C c.(3787-3789)Ggg>Cgg p.G1263R NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1263 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCAGCGGGACGGGTACCAGGC 0.562000 13 71 0 0 0.020292 0 0 OR10A7 121364 broad.mit.edu 37 12 55615024 55615024 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:55615024T>C ENST00000326258.1 + 1 216 c.216T>C c.(214-216)tgT>tgC p.C72C NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TTGAAGTATGTTTCACCTTGG 0.408000 50 171 0 0 0.048971 0 0 ESPL1 9700 broad.mit.edu 37 12 53676136 53676136 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:53676136A>T ENST00000257934.4 + 14 2799 c.2708A>T c.(2707-2709)cAg>cTg p.Q903L ESPL1_ENST00000552462.1_Missense_Mutation_p.Q903L NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 903 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CTGCGTGTCCAGGTCCTGCAG 0.577000 43 90 0 0 0.033182 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504953 151504953 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:151504953C>A ENST00000317605.4 + 1 1877 c.772C>A c.(772-774)Cgg>Agg p.R258R LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 258 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GAAGACTCTGCGGGACCGCCA 0.627000 31 23 2.4375e-19 3.26195e-19 0.034045 1 0 LAMA5 3911 broad.mit.edu 37 20 60908211 60908211 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:60908211G>A ENST00000252999.3 - 26 3283 c.3217C>T c.(3217-3219)Cgg>Tgg p.R1073W NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1073 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGCAGGGCCGGGGCAGGCTG 0.701000 8 6 0 0 0.038147 0 0 ANKRD46 157567 broad.mit.edu 37 8 101541965 101541965 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:101541965C>T ENST00000520311.1 - 3 900 c.97G>A c.(97-99)Gaa>Aaa p.E33K ANKRD46_ENST00000520552.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519597.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519316.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000335659.3_Missense_Mutation_p.E33K NM_001270378.1 NP_001257307.1 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 33 integral to membrane kidney(1)|large_intestine(2)|lung(4) 7 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) AAGCCACTTTCCAAAAGCCGC 0.453000 14 90 0 0 0.020292 0 0 NSD1 64324 broad.mit.edu 37 5 176684042 176684042 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:176684042G>C ENST00000439151.2 + 13 4901 c.4856G>C c.(4855-4857)tGt>tCt p.C1619S NSD1_ENST00000347982.4_Missense_Mutation_p.C1350S|NSD1_ENST00000361032.4_Missense_Mutation_p.C1516S|NSD1_ENST00000354179.4_Missense_Mutation_p.C1350S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1619 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CATGAAGAGTGTGTCCAGAAG 0.468000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 39 50 0 0 0.027894 0 0 LRFN5 145581 broad.mit.edu 37 14 42361015 42361015 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:42361015A>G ENST00000298119.4 + 4 3137 c.1948A>G c.(1948-1950)Aag>Gag p.K650E LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 650 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GACTGGCACAAAGCCAAGTAC 0.478000 HNSCC(30;0.082) 12 26 0 0 0.010729 0 0 TFIP11 24144 broad.mit.edu 37 22 26894935 26894935 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:26894935T>A ENST00000407690.1 - 10 1619 c.1336A>T c.(1336-1338)Act>Tct p.T446S TFIP11_ENST00000405938.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407431.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407148.1_Missense_Mutation_p.T446S NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 446 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GTGCCATAAGTGCAGTCCTGA 0.557000 106 63 0 0 0.048971 0 0 ABCA12 26154 broad.mit.edu 37 2 215880315 215880315 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:215880315T>A ENST00000272895.7 - 15 2074 c.1855A>T c.(1855-1857)Aaa>Taa p.K619* ABCA12_ENST00000389661.4_Nonsense_Mutation_p.K301* NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 619 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAGAATTCTTTCATTGCATCT 0.403000 8 25 0 0 0.038147 0 0 OR5W2 390148 broad.mit.edu 37 11 55681277 55681277 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:55681277C>T ENST00000344514.1 - 1 781 c.782G>A c.(781-783)cGg>cAg p.R261Q NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261Q(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGAACTTGGCCGGAAATACAT 0.443000 6 69 0 0 0.021553 0 0 MYH4 4622 broad.mit.edu 37 17 10362566 10362566 + Splice_Site SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:10362566A>T ENST00000255381.2 - 15 1698 c.e15+1 CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGTCATATGAACCTTCTCGAT 0.473000 15 51 0 0 0.024245 0 0 DENND4A 10260 broad.mit.edu 37 15 65959832 65959832 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:65959832T>C ENST00000443035.3 - 29 5408 c.5193A>G c.(5191-5193)ttA>ttG p.L1731L DENND4A_ENST00000431932.2_Silent_p.L1688L NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1688 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TCAATCCAGGTAAGTTACTGG 0.368000 9 47 0 0 0.008291 0 0 TRRAP 8295 broad.mit.edu 37 7 98609784 98609784 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:98609784G>T ENST00000359863.4 + 72 11595 c.11386G>T c.(11386-11388)Gcc>Tcc p.A3796S TRRAP_ENST00000355540.3_Missense_Mutation_p.A3767S|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3785S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3796 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCTCTCGGCCGCCGGGCAGCC 0.582000 16 23 1.99824e-07 2.25421e-07 0.033300 1 0 NSD1 64324 broad.mit.edu 37 5 176637776 176637776 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:176637776C>A ENST00000439151.2 + 5 2421 c.2376C>A c.(2374-2376)tgC>tgA p.C792* NSD1_ENST00000347982.4_Nonsense_Mutation_p.C523*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.C689*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.C523* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 792 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GTATAAAGTGCAAACACAAAG 0.428000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 11 38 0.000673444 0.000693774 0.008291 1 0 ZNF415 55786 broad.mit.edu 37 19 53612056 53612056 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:53612056G>A ENST00000455735.2 - 7 1706 c.1386C>T c.(1384-1386)tgC>tgT p.C462C ZNF415_ENST00000440291.1_Silent_p.C401C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.C184C|ZNF415_ENST00000500065.4_Silent_p.C414C|ZNF415_ENST00000421033.1_Silent_p.C426C|ZNF415_ENST00000448501.1_Silent_p.C462C|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.C414C|ZNF415_ENST00000595193.1_3'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CACATTCATTGCATTTGTAAG 0.403000 23 41 0 0 0.016522 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588692 140588692 + Missense_Mutation SNP C C A rs145009914 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:140588692C>A ENST00000239450.2 + 1 402 c.213C>A c.(211-213)aaC>aaA p.N71K PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 71 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTAATGATAACAAAGAGTGTT 0.522000 31 62 2.08457e-15 2.70222e-15 0.045705 1 0 UBE2NL 389898 broad.mit.edu 37 X 142967322 142967322 + Silent SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:142967322T>A ENST00000370494.1 + 1 150 c.120T>A c.(118-120)gcT>gcA p.A40A NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 40 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) TGGTCATTGCTGGGGAATCAA 0.473000 53 35 0 0 0.048971 0 0 GAREM 64762 broad.mit.edu 37 18 29867752 29867752 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr18:29867752G>A ENST00000399218.4 - 4 863 c.808C>T c.(808-810)Cgc>Tgc p.R270C GAREM_ENST00000269209.6_Missense_Mutation_p.R270C|RP11-344B2.2_ENST00000579580.1_RNA NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 p.R270C(1) AACTTATAGCGGTGCCCCTCA 0.527000 16 67 0 0 0.028581 0 0 FER1L6 654463 broad.mit.edu 37 8 125061872 125061872 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:125061872A>G ENST00000522917.1 + 22 2955 c.2749A>G c.(2749-2751)Aca>Gca p.T917A FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T917A|FER1L6-AS2_ENST00000601180.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 917 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTGGGTGCCACAGTGGCTGC 0.473000 14 49 0 0 0.016723 0 0 CDH19 28513 broad.mit.edu 37 18 64202289 64202289 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr18:64202289T>C ENST00000262150.2 - 8 1562 c.1270A>G c.(1270-1272)Aca>Gca p.T424A CDH19_ENST00000540086.1_Missense_Mutation_p.T424A NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 424 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) GAGTTACTTGTAGTGATTGTA 0.328000 4 33 0 0 0.009096 0 0 WDR72 256764 broad.mit.edu 37 15 54003099 54003099 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr15:54003099G>T ENST00000396328.1 - 9 1148 c.909C>A c.(907-909)acC>acA p.T303T WDR72_ENST00000557913.1_Silent_p.T302T|WDR72_ENST00000559418.1_Silent_p.T315T|WDR72_ENST00000360509.5_Silent_p.T303T NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 303 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GAGGATAAATGGTCTCTTTAA 0.383000 9 49 3.07112e-06 3.34596e-06 0.010729 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 3 17 0 0 0.004672 0 0 ADSL 158 broad.mit.edu 37 22 40757500 40757500 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr22:40757500G>T ENST00000216194.7 + 9 927 c.871G>T c.(871-873)Gcg>Tcg p.A291S ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.A291S|ADSL_ENST00000454266.2_Missense_Mutation_p.A305S NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 291 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 AGGCTCAAGTGCGATGCCATA 0.522000 17 99 1.01871e-10 1.25105e-10 0.049695 1 0 DNAH7 56171 broad.mit.edu 37 2 196834805 196834805 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:196834805C>T ENST00000312428.6 - 17 2172 c.2072G>A c.(2071-2073)cGg>cAg p.R691Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 691 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTCCACAAACCGTTCACACCG 0.323000 19 54 0 0 0.014323 0 0 KLHL40 131377 broad.mit.edu 37 3 42727527 42727527 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:42727527C>T ENST00000287777.4 + 1 517 c.417C>T c.(415-417)ctC>ctT p.L139L NM_152393.2 NP_689606.2 kelch-like family member 40 TCTTCCGTCTCGGCCTCCTGC 0.652000 52 50 0 0 0.048971 0 0 SLIT3 6586 broad.mit.edu 37 5 168135107 168135107 + Splice_Site SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:168135107T>G ENST00000519560.1 - 26 3139 c.e26-2 CTC-558O2.1_ENST00000522615.1_RNA|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Silent_p.P913P|SLIT3_ENST00000404867.3_Splice_Site NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCACTGGCCCTGGGCAGCAAA 0.612000 5 41 0 0 0.021553 0 0 NLRP12 91662 broad.mit.edu 37 19 54313980 54313980 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:54313980G>T ENST00000324134.6 - 3 1101 c.933C>A c.(931-933)tgC>tgA p.C311* NLRP12_ENST00000345770.5_Nonsense_Mutation_p.C311*|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.C311*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.C311* NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 311 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCCAGCAGAGGCACCAGGGTC 0.567000 14 46 2.32078e-09 2.75347e-09 0.024245 1 0 WDR90 197335 broad.mit.edu 37 16 701826 701826 + Splice_Site SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr16:701826G>T ENST00000549091.1 + 9 932 c.e9-1 WDR90_ENST00000293879.4_Splice_Site NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TCCCCCAGCAGTCCGGCCGGG 0.687000 20 49 7.41877e-09 8.69145e-09 0.012319 1 0 COL4A1 1282 broad.mit.edu 37 13 110833680 110833680 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr13:110833680A>G ENST00000375820.4 - 29 2273 c.2152T>C c.(2152-2154)Ttt>Ctt p.F718L NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 718 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAGCCATTAAATCCCGGGCGA 0.502000 7 45 0 0 0.047766 0 0 NCR2 9436 broad.mit.edu 37 6 41318574 41318574 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:41318574G>C ENST00000373089.5 + 5 891 c.803G>C c.(802-804)aGc>aCc p.S268T NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 268 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) actaagataagcgatgatgat 0.408000 16 34 0 0 0.024245 0 0 PTPRB 5787 broad.mit.edu 37 12 70954538 70954538 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:70954538C>T ENST00000334414.6 - 17 4389 c.4345G>A c.(4345-4347)Ggc>Agc p.G1449S PTPRB_ENST00000261266.5_Missense_Mutation_p.G1231S|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1448S|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1361S|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1141S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1141S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1231 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGAACAAGGCCTTGAAACCGC 0.493000 15 47 0 0 0.020292 0 0 KLHL2 11275 broad.mit.edu 37 4 166232680 166232680 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:166232680T>C ENST00000226725.6 + 11 1561 c.1302T>C c.(1300-1302)aaT>aaC p.N434N KLHL2_ENST00000421009.2_Silent_p.N337N|KLHL2_ENST00000506761.1_Silent_p.N268N|KLHL2_ENST00000538127.1_Silent_p.N346N|KLHL2_ENST00000514860.1_Silent_p.N438N|KLHL2_ENST00000509028.1_3'UTR NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 434 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) CTCCCATGAATACAAGGAGGA 0.418000 29 155 0 0 0.050027 0 0 SLC35G3 146861 broad.mit.edu 37 17 33521053 33521053 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:33521053C>A ENST00000297307.5 - 1 359 c.274G>T c.(274-276)Gac>Tac p.D92Y NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 92 DUF6 1. integral to membrane AGAAGGGGGTCGCCACGCAGT 0.582000 88 120 9.24773e-40 1.28824e-39 0.048971 1 0 OR2W3 343171 broad.mit.edu 37 1 248059405 248059405 + Missense_Mutation SNP G G A rs139271211 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:248059405G>A ENST00000537741.1 + 3 774 c.517G>A c.(517-519)Gag>Aag p.E173K OR2W3_ENST00000360358.3_Missense_Mutation_p.E173K Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGGCACCACGAGGTGGACCA 0.657000 41 76 0 0 0.025465 0 0 DACT1 51339 broad.mit.edu 37 14 59112625 59112625 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:59112625C>A ENST00000395153.3 + 4 1320 c.1173C>A c.(1171-1173)gcC>gcA p.A391A DACT1_ENST00000335867.4_Silent_p.A428A|DACT1_ENST00000556859.1_Silent_p.A147A|DACT1_ENST00000541264.2_Silent_p.A147A|DACT1_ENST00000395151.3_Silent_p.A147A NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 428 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.A428A(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CCGAACAAGCCGAAAGCAAGA 0.597000 7 46 5.18039e-06 5.60042e-06 0.038147 1 0 EEA1 8411 broad.mit.edu 37 12 93221688 93221688 + Splice_Site SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:93221688C>A ENST00000322349.8 - 12 1668 c.1404_splice c.e12+1 p.Q468_splice NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 468 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 GCTAGCTTACCTGCTCTTCTA 0.348000 43 129 1.00953e-15 1.31474e-15 0.045515 1 0 GRAMD1C 54762 broad.mit.edu 37 3 113634611 113634611 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:113634611C>T ENST00000358160.4 + 10 1508 c.1016C>T c.(1015-1017)gCt>gTt p.A339V GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.A134V|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.A172V|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.A68V NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 339 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 CATATCAGTGCTGACAGAATG 0.338000 11 40 0 0 0.008291 0 0 ABCC2 1244 broad.mit.edu 37 10 101591889 101591889 + Splice_Site SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:101591889G>A ENST00000370449.4 + 23 3371 c.e23+1 NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTTTGCCGGCGTAAGTATCTC 0.433000 10 63 0 0 0.008291 0 0 ZNF432 9668 broad.mit.edu 37 19 52537631 52537631 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:52537631C>A ENST00000594154.1 - 5 1513 c.1301G>T c.(1300-1302)tGt>tTt p.C434F ZNF432_ENST00000221315.5_Missense_Mutation_p.C434F O94892 ZN432_HUMAN zinc finger protein 432 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) ACCTTTTCCACATTCACTACA 0.408000 16 71 6.31663e-08 7.18966e-08 0.024245 1 0 MMP13 4322 broad.mit.edu 37 11 102825316 102825316 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:102825316C>G ENST00000260302.3 - 3 410 c.382G>C c.(382-384)Gat>Cat p.D128H MMP13_ENST00000340273.4_Missense_Mutation_p.D128H NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 128 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TGAGTCATATCAGGGGTGTAA 0.348000 12 79 0 0 0.033300 0 0 SLC35F1 222553 broad.mit.edu 37 6 118556735 118556735 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:118556735T>C ENST00000360388.4 + 3 614 c.413T>C c.(412-414)aTa>aCa p.I138T NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 138 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TTGGGACTCATAGACCTGGAA 0.433000 23 46 0 0 0.014323 0 0 ALG13 79868 broad.mit.edu 37 X 110951259 110951259 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:110951259C>G ENST00000394780.3 + 4 400 c.388C>G c.(388-390)Ctg>Gtg p.L130V ALG13_ENST00000251943.4_Missense_Mutation_p.L26V|ALG13-AS1_ENST00000430794.1_RNA NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 130 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 TCACAGGGTCCTGACTTGTCC 0.512000 7 7 0 0 0.029380 0 0 LHFP 10186 broad.mit.edu 37 13 39952615 39952615 + Missense_Mutation SNP C C T rs142526688 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr13:39952615C>T ENST00000379589.3 - 3 896 c.434G>A c.(433-435)aGt>aAt p.S145N NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 145 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) GACTTCCTCACTGTCCCAGCC 0.502000 T HMGA2 lipoma 10 47 0 0 0.020292 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537198 5537198 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:5537198T>A ENST00000380184.1 - 1 737 c.474A>T c.(472-474)aaA>aaT p.K158N HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 158 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GGGTATGCACTTTGGGTGCAT 0.507000 28 49 0 0 0.027356 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065526 55065526 + RNA SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:55065526C>A ENST00000526016.1 - 0 182 NR_038174.2 GCAATGGAAGCCATGTTCTTC 0.463000 10 14 1.33987e-11 1.67484e-11 0.008291 1 0 SEC31A 22872 broad.mit.edu 37 4 83748592 83748592 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:83748592C>G ENST00000432794.1 - 25 3423 c.3260G>C c.(3259-3261)gGc>gCc p.G1087A SEC31A_ENST00000448323.1_Missense_Mutation_p.G1074A|SEC31A_ENST00000505984.1_Missense_Mutation_p.G1020A|SEC31A_ENST00000264405.5_Missense_Mutation_p.G823A|SEC31A_ENST00000509142.1_Missense_Mutation_p.G960A|SEC31A_ENST00000326950.5_Missense_Mutation_p.G1035A|SEC31A_ENST00000508502.1_Missense_Mutation_p.G1059A|SEC31A_ENST00000513858.1_Missense_Mutation_p.G921A|SEC31A_ENST00000355196.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000505472.1_Missense_Mutation_p.G1105A|SEC31A_ENST00000500777.2_Missense_Mutation_p.G921A|SEC31A_ENST00000443462.2_Missense_Mutation_p.G1054A|SEC31A_ENST00000348405.4_Missense_Mutation_p.G1035A|SEC31A_ENST00000395310.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000311785.7_Missense_Mutation_p.G960A O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1074 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TGGTGGCATGCCTGTTTGACC 0.502000 30 147 0 0 0.041601 0 0 SPDL1 54908 broad.mit.edu 37 5 169015579 169015579 + Splice_Site SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:169015579G>C ENST00000265295.4 + 2 438 c.159_splice c.e2+1 p.E53_splice SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 CCATGACTGAGGTAGGACTCT 0.363000 9 38 0 0 0.008291 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84581990 84581990 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr15:84581990C>A ENST00000286744.5 + 16 2071 c.1847C>A c.(1846-1848)aCc>aAc p.T616N ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T616N NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 616 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AAGCTGCCCACCGAACGGCCC 0.617000 10 38 7.48243e-07 8.28095e-07 0.006214 1 0 L3MBTL4 91133 broad.mit.edu 37 18 5956275 5956275 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr18:5956275G>A ENST00000284898.6 - 20 2016 c.1816C>T c.(1816-1818)Cat>Tat p.H606Y L3MBTL4_ENST00000400105.2_Missense_Mutation_p.H606Y|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.H597Y|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.H410Y|RP11-793A3.1_ENST00000577704.1_RNA NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 606 SAM. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TCCTGGGAATGCCTGAACATC 0.498000 48 184 0 0 0.048971 0 0 KIAA0825 285600 broad.mit.edu 37 5 93856508 93856508 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:93856508G>T ENST00000513200.3 - 4 487 c.415C>A c.(415-417)Cat>Aat p.H139N KIAA0825_ENST00000329378.7_Missense_Mutation_p.H139N|KIAA0825_ENST00000427991.2_Missense_Mutation_p.H139N|KIAA0825_ENST00000312498.7_Missense_Mutation_p.H139N NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 139 breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 GAGAGGAAATGGAAAGATGTT 0.413000 4 37 0.00024832 0.000259439 0.009096 1 0 CHRM2 1129 broad.mit.edu 37 7 136700500 136700500 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:136700500G>C ENST00000445907.2 + 3 1416 c.888G>C c.(886-888)atG>atC p.M296I CHRM2_ENST00000402486.3_Missense_Mutation_p.M296I|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M296I|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M296I|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M296I|CHRM2_ENST00000397608.3_Missense_Mutation_p.M296I|AC009264.1_ENST00000598184.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 296 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCTCTAATATGAGAGATGATG 0.478000 9 67 0 0 0.010729 0 0 CELSR1 9620 broad.mit.edu 37 22 46806456 46806456 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr22:46806456G>A ENST00000262738.3 - 7 4771 c.4772C>T c.(4771-4773)tCc>tTc p.S1591F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1591 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGATCCAGGGACCTGGGTAG 0.642000 32 26 0 0 0.019004 0 0 BRIP1 83990 broad.mit.edu 37 17 59763502 59763502 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:59763502T>A ENST00000259008.2 - 19 2867 c.2600A>T c.(2599-2601)cAg>cTg p.Q867L BRIP1_ENST00000577598.1_Missense_Mutation_p.Q867L NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 867 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 GTGCTGAATCTGCTGCCGTAC 0.358000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 9 83 0 0 0.016723 0 0 NSD1 64324 broad.mit.edu 37 5 176721512 176721512 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:176721512C>A ENST00000439151.2 + 23 7188 c.7143C>A c.(7141-7143)ccC>ccA p.P2381P NSD1_ENST00000354179.4_Silent_p.P2112P|NSD1_ENST00000361032.4_Silent_p.P2278P|NSD1_ENST00000347982.4_Silent_p.P2112P NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2381 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCTCAGTTCCCACTGGCCTGA 0.562000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 16 63 2.31682e-05 2.47599e-05 0.024245 1 0 COL5A1 1289 broad.mit.edu 37 9 137704317 137704317 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr9:137704317A>G ENST00000371817.3 + 47 4127 c.3713A>G c.(3712-3714)gAg>gGg p.E1238G NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1238 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCTCCAGGCGAGAAGGGTGAG 0.527000 6 40 0 0 0.038147 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673889 20673889 + Missense_Mutation SNP C C T rs151244472 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:20673889C>T ENST00000525748.1 + 15 2398 c.2125C>T c.(2125-2127)Cgc>Tgc p.R709C SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 709 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TGGCTCTTACCGCTATCCTAA 0.488000 18 107 0 0 0.043863 0 0 ACSL4 2182 broad.mit.edu 37 X 108904779 108904779 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:108904779T>C ENST00000340800.2 - 15 2305 c.1801A>G c.(1801-1803)Atc>Gtc p.I601V ACSL4_ENST00000469796.2_Missense_Mutation_p.I601V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I560V NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 601 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) AAAGCACAGATGTTGTCAATA 0.333000 22 19 0 0 0.016522 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369912 20369912 + RNA SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:20369912C>T ENST00000593655.1 - 0 199 AGGCGGCTGACATTGATACCA 0.413000 15 26 0 0 0.020292 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80914579 80914579 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:80914579C>A ENST00000576599.1 - 11 1414 c.664G>T c.(664-666)Gtg>Ttg p.V222L B3GNTL1_ENST00000320865.3_Missense_Mutation_p.V333L Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 333 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) ACCAGCTTCACGCAGATGACG 0.652000 3 3 0.00909568 0.00926106 0.009096 1 0 ABCA1 19 broad.mit.edu 37 9 107547893 107547893 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr9:107547893T>C ENST00000374736.3 - 49 6823 c.6429A>G c.(6427-6429)gtA>gtG p.V2143V NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 2143 ABC transporter 2. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGCTATTCGTACAACTATTG 0.428000 11 63 0 0 0.016723 0 0 EPHA2 1969 broad.mit.edu 37 1 16477390 16477390 + Splice_Site SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:16477390C>G ENST00000358432.5 - 2 308 c.e2+1 EPHA2_ENST00000461614.1_Intron NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGCTTACATACCCCTTTGCCA 0.617000 37 74 0 0 0.045515 0 0 SBK1 388228 broad.mit.edu 37 16 28331653 28331653 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr16:28331653C>T ENST00000341901.4 + 4 1475 c.686C>T c.(685-687)gCg>gTg p.A229V NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 229 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GACGGGCTGGCGGTGGACACG 0.736000 8 19 0 0 0.047766 0 0 ASPM 259266 broad.mit.edu 37 1 197091420 197091420 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:197091420C>G ENST00000367409.4 - 15 3866 c.3610G>C c.(3610-3612)Gag>Cag p.E1204Q ASPM_ENST00000367408.1_Missense_Mutation_p.E454Q|ASPM_ENST00000294732.7_Missense_Mutation_p.E1204Q NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1204 CH 2. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTGTATAGCTCTGAAGTATTT 0.363000 18 45 0 0 0.038395 0 0 HEPH 9843 broad.mit.edu 37 X 65480093 65480093 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:65480093T>C ENST00000519389.1 + 19 3529 c.3350T>C c.(3349-3351)tTt>tCt p.F1117S HEPH_ENST00000441993.2_Missense_Mutation_p.F1066S|HEPH_ENST00000374727.3_Missense_Mutation_p.F1066S|HEPH_ENST00000336279.5_Missense_Mutation_p.F796S|HEPH_ENST00000419594.1_Missense_Mutation_p.F874S|HEPH_ENST00000343002.2_Missense_Mutation_p.F1063S Q9BQS7 HEPH_HUMAN hephaestin 1063 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.F1063C(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TTCACTGTTTTTTCTCGAACA 0.473000 17 12 0 0 0.028581 0 0 SLC7A14 57709 broad.mit.edu 37 3 170185021 170185021 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:170185021T>C ENST00000231706.4 - 8 2453 c.2138A>G c.(2137-2139)gAg>gGg p.E713G CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 713 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCTCTCGCCCTCTGTGGCGTA 0.572000 24 48 0 0 0.021523 0 0 ANK1 286 broad.mit.edu 37 8 41572572 41572572 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:41572572G>A ENST00000396942.1 - 15 1706 c.1623C>T c.(1621-1623)caC>caT p.H541H ANK1_ENST00000396945.1_Silent_p.H541H|ANK1_ENST00000347528.4_Silent_p.H541H|ANK1_ENST00000352337.4_Silent_p.H541H|ANK1_ENST00000379758.2_Silent_p.H541H|ANK1_ENST00000289734.7_Silent_p.H541H|ANK1_ENST00000265709.8_Silent_p.H574H P16157 ANK1_HUMAN ankyrin 1, erythrocytic 541 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.H541H(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGCCGCCACGTGCAGAGGGG 0.627000 24 67 0 0 0.018920 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 5 46 0 0 0.029380 0 0 DRD3 1814 broad.mit.edu 37 3 113866346 113866346 + Missense_Mutation SNP G G A rs141573183 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:113866346G>A ENST00000383673.2 - 4 872 c.442C>T c.(442-444)Cgg>Tgg p.R148W DRD3_ENST00000467632.1_Missense_Mutation_p.R148W|DRD3_ENST00000295881.7_Missense_Mutation_p.R148W|DRD3_ENST00000460779.1_Missense_Mutation_p.R148W NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 148 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GCCACGCGCCGACAGGAGCTC 0.562000 4 69 0 0 0.014758 0 0 FAM208B 54906 broad.mit.edu 37 10 5789010 5789010 + Nonsense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:5789010C>G ENST00000328090.5 + 15 4251 c.3626C>G c.(3625-3627)tCa>tGa p.S1209* NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1209 GTGGACTCATCATCAGCCTCT 0.473000 19 69 0 0 0.055883 0 0 OR5B3 441608 broad.mit.edu 37 11 58170004 58170004 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:58170004C>G ENST00000309403.2 - 1 878 c.879G>C c.(877-879)aaG>aaC p.K293N NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCTTCACTTCCTTGTTCCTCA 0.438000 6 94 0 0 0.013537 0 0 COL5A2 1290 broad.mit.edu 37 2 189962019 189962019 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:189962019C>T ENST00000374866.3 - 6 714 c.440G>A c.(439-441)gGg>gAg p.G147E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 147 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCTTTTGGCCCTCGCTCTCC 0.443000 8 55 0 0 0.006214 0 0 ZNF862 643641 broad.mit.edu 37 7 149545456 149545456 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:149545456G>A ENST00000223210.4 + 4 1119 c.874G>A c.(874-876)Gat>Aat p.D292N NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AGAAATCACTGATGGCATCCA 0.403000 3 14 0 0 0.009096 0 0 IQGAP2 10788 broad.mit.edu 37 5 75954373 75954373 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:75954373G>T ENST00000274364.6 + 21 2707 c.2410G>T c.(2410-2412)Gtt>Ttt p.V804F IQGAP2_ENST00000379730.3_Missense_Mutation_p.V306F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V300F|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V300F NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 804 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GGAACTAGAGGTTGCACGATT 0.448000 37 45 2.19358e-23 2.99611e-23 0.023175 1 0 PARD3 56288 broad.mit.edu 37 10 34690830 34690830 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:34690830C>T ENST00000374789.3 - 6 1055 c.730G>A c.(730-732)Gaa>Aaa p.E244K PARD3_ENST00000374773.1_Missense_Mutation_p.E244K|PARD3_ENST00000545693.1_Missense_Mutation_p.E244K|PARD3_ENST00000374776.1_Missense_Mutation_p.E244K|PARD3_ENST00000374788.3_Missense_Mutation_p.E244K|PARD3_ENST00000374790.3_Missense_Mutation_p.E200K|PARD3_ENST00000544292.1_5'UTR|PARD3_ENST00000350537.4_Missense_Mutation_p.E244K|PARD3_ENST00000346874.4_Missense_Mutation_p.E244K|PARD3_ENST00000545260.1_Missense_Mutation_p.E200K|PARD3_ENST00000340077.5_Missense_Mutation_p.E244K|PARD3_ENST00000374794.3_Missense_Mutation_p.E200K NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 244 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TTATCCTCTTCTGTCCCATCC 0.428000 58 119 0 0 0.048971 0 0 NLRC3 197358 broad.mit.edu 37 16 3602217 3602217 + RNA SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr16:3602217T>C ENST00000301749.7 - 0 2735 NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAGACTCCTGTTCTGCTTCAA 0.532000 35 46 0 0 0.021022 0 0 CRTC3 64784 broad.mit.edu 37 15 91083350 91083350 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr15:91083350G>A ENST00000420329.2 + 2 359 c.212G>A c.(211-213)aGc>aAc p.S71N CRTC3_ENST00000560098.1_Missense_Mutation_p.S71N|CRTC3_ENST00000268184.6_Missense_Mutation_p.S71N|CRTC3_ENST00000558619.1_3'UTR NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 71 Required for interaction with HTLV-1 TAX. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CAGCTGCGGAGCAGTGCGTCA 0.413000 T MAML2 salivary gland mucoepidermoid 29 40 0 0 0.054565 0 0 PTP4A3 11156 broad.mit.edu 37 8 142437153 142437153 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:142437153G>T ENST00000520105.1 + 4 1256 c.313G>T c.(313-315)Gtg>Ttg p.V105L PTP4A3_ENST00000329397.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000349124.1_Missense_Mutation_p.V105L O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 105 Tyrosine-protein phosphatase. early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(2)|large_intestine(1)|lung(3) 6 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) TGTGCACTGCGTGGCGGGCCT 0.682000 27 147 8.53417e-09 9.95654e-09 0.054565 1 0 SGMS2 166929 broad.mit.edu 37 4 108831579 108831579 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:108831579A>T ENST00000394684.4 + 7 1525 c.968A>T c.(967-969)aAa>aTa p.K323I SGMS2_ENST00000359079.4_Missense_Mutation_p.K323I|SGMS2_ENST00000394686.3_Missense_Mutation_p.K323I|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 323 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) TTTTTTGAGAAAAATGTACAA 0.398000 29 30 0 0 0.037714 0 0 TCTN1 79600 broad.mit.edu 37 12 111078896 111078896 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:111078896G>T ENST00000551590.1 + 9 1202 c.1046G>T c.(1045-1047)gGg>gTg p.G349V TCTN1_ENST00000397655.3_Missense_Mutation_p.G335V|TCTN1_ENST00000397659.4_Missense_Mutation_p.G349V|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.G171V Q2MV58 TECT1_HUMAN tectonic family member 1 349 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TTCGTTCTGGGGACAGTTAGC 0.393000 47 101 2.52991e-16 3.3257e-16 0.048971 1 0 CC2D2A 57545 broad.mit.edu 37 4 15556795 15556795 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:15556795A>G ENST00000424120.1 + 20 2841 c.2587A>G c.(2587-2589)Aat>Gat p.N863D CC2D2A_ENST00000413206.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000503292.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.N814D Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 863 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 GCTCGACCCAAATGACCCCAA 0.463000 10 27 0 0 0.008291 0 0 LILRB5 10990 broad.mit.edu 37 19 54761048 54761048 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:54761048G>A ENST00000450632.1 - 1 86 c.9C>T c.(7-9)ctC>ctT p.L3L LILRB5_ENST00000449561.2_Silent_p.L3L|LILRB5_ENST00000316219.5_Silent_p.L3L|LILRB5_ENST00000345866.6_Silent_p.L3L O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 3 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGAGAGGGTGAGGGTCATGG 0.587000 9 44 0 0 0.006214 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820232 50820232 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:50820232C>T ENST00000374115.3 + 1 1886 c.1446C>T c.(1444-1446)cgC>cgT p.R482R CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 482 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GTTCCGAGCGCGATGTGCTGC 0.667000 40 42 0 0 0.027894 0 0 PLCL1 5334 broad.mit.edu 37 2 198950188 198950188 + Missense_Mutation SNP C C G rs151231252 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:198950188C>G ENST00000428675.1 + 2 2345 c.1947C>G c.(1945-1947)atC>atG p.I649M PLCL1_ENST00000437704.2_Missense_Mutation_p.I551M NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 649 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.I551I(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CCATGAGGATCGATTCCAGTA 0.423000 5 45 0 0 0.014758 0 0 JDP2 122953 broad.mit.edu 37 14 75936093 75936093 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:75936093G>A ENST00000435893.2 + 4 680 c.407G>A c.(406-408)cGc>cAc p.R136H JDP2_ENST00000419727.2_Missense_Mutation_p.R136H|JDP2_ENST00000437176.1_Missense_Mutation_p.R136H|JDP2_ENST00000267569.5_Missense_Mutation_p.R147H NM_001135047.1|NM_130469.3 NP_001128519.1|NP_569736.1 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 136 nucleus sequence-specific DNA binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.0296) AACCGACACCGCCCCACCTGC 0.607000 17 40 0 0 0.033300 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559422 44559422 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr18:44559422C>T ENST00000332567.4 - 1 2566 c.2214G>A c.(2212-2214)ctG>ctA p.L738L KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 738 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCTTGGCCATCAGCGGGGCCA 0.562000 21 127 0 0 0.016522 0 0 GPAA1 8733 broad.mit.edu 37 8 145140516 145140516 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:145140516C>A ENST00000355091.4 + 11 1613 c.1492C>A c.(1492-1494)Ctg>Atg p.L498M GPAA1_ENST00000361036.6_Missense_Mutation_p.L438M NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 498 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGATGGCACTGAAGCTGGT 0.597000 30 97 4.74835e-14 6.07096e-14 0.045705 1 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013751 117013751 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:117013751C>T ENST00000306985.4 + 2 158 c.4C>T c.(4-6)Ccg>Tcg p.P2S MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.P2S NM_001085481.1 NP_001078950.1 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 beta 2 2 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule breast(1)|large_intestine(2)|lung(3) 6 CCACACCATGCCGTCGGAGAA 0.627000 33 29 0 0 0.054565 0 0 GJA8 2703 broad.mit.edu 37 1 147380527 147380527 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:147380527A>T ENST00000240986.4 + 2 498 c.445A>T c.(445-447)Agg>Tgg p.R149W GJA8_ENST00000369235.1_Missense_Mutation_p.R149W NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 149 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GACCCTGCTGAGGACCTACAT 0.607000 20 115 0 0 0.043863 0 0 ENPP3 5169 broad.mit.edu 37 6 132039838 132039838 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:132039838G>A ENST00000414305.1 + 17 1767 c.1439G>A c.(1438-1440)gGa>gAa p.G480E ENPP3_ENST00000357639.3_Missense_Mutation_p.G480E|ENPP3_ENST00000358229.5_Missense_Mutation_p.G480E O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 480 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AATTGTGGAGGAGGCAACCAT 0.294000 25 67 0 0 0.034045 0 0 SEMA5A 9037 broad.mit.edu 37 5 9136622 9136622 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:9136622C>A ENST00000382496.5 - 13 2258 c.1593G>T c.(1591-1593)gcG>gcT p.A531A NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 531 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TCACCGGACACGCAGAGATGC 0.587000 4 27 0.00024832 0.000259439 0.009096 1 0 CSMD3 114788 broad.mit.edu 37 8 113256689 113256689 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:113256689C>A ENST00000297405.5 - 65 10580 c.10336G>T c.(10336-10338)Ggt>Tgt p.G3446C CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3446 Sushi 28. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCTGTTCCACCTGCTAAGAAG 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 75 3.41278e-10 4.15469e-10 0.033300 1 0 ASXL3 80816 broad.mit.edu 37 18 31323155 31323155 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr18:31323155C>G ENST00000269197.5 + 12 3343 c.3343C>G c.(3343-3345)Caa>Gaa p.Q1115E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGCAAAGCATCAAGCTCGAGC 0.527000 4 23 0 0 0.009096 0 0 ATP2B2 491 broad.mit.edu 37 3 10401651 10401651 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:10401651G>A ENST00000397077.1 - 12 2256 c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 606 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ATGGACTTGCGCACGGAGTTG 0.577000 53 42 0 0 0.048971 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42168941 42168941 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr20:42168941T>A ENST00000444063.1 + 17 2186 c.2054T>A c.(2053-2055)aTc>aAc p.I685N L3MBTL1_ENST00000418998.1_Missense_Mutation_p.I753N|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.I685N|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.I690N|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.I753N Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 685 SAM. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 AAGTGGACCATCGATGAGGTG 0.612000 34 43 0 0 0.019004 0 0 KIRREL 55243 broad.mit.edu 37 1 158059256 158059256 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:158059256C>G ENST00000368172.1 + 5 463 c.451C>G c.(451-453)Cct>Gct p.P151A KIRREL_ENST00000368173.3_Missense_Mutation_p.P353A|KIRREL_ENST00000359209.6_Intron|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000416935.2_Intron Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 348 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GCCCAGGCCTCCTGGCTCCCC 0.617000 8 35 0 0 0.008291 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000439 16000439 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:16000439C>G ENST00000221700.5 - 7 807 c.712G>C c.(712-714)Gag>Cag p.E238Q CYP4F2_ENST00000592328.1_Missense_Mutation_p.E238Q|CYP4F2_ENST00000011989.7_Missense_Mutation_p.E89Q NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 238 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGGAGGATCTCATGGTGTCTT 0.512000 9 131 0 0 0.028581 0 0 MYH14 79784 broad.mit.edu 37 19 50766677 50766677 + Splice_Site SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:50766677G>A ENST00000440075.2 + 22 2741 c.2694_splice c.e22+1 p.K898_splice MYH14_ENST00000596571.1_Splice_Site_p.K857_splice|MYH14_ENST00000425460.1_Splice_Site_p.K865_splice|MYH14_ENST00000262269.8_Splice_Site_p.K898_splice|MYH14_ENST00000601313.1_Splice_Site_p.K898_splice|MYH14_ENST00000598205.1_Splice_Site_p.K865_splice|MYH14_ENST00000376970.2_Splice_Site_p.K890_splice Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 857 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) TGTTTACCAAGGTGAGGGCAG 0.622000 3 13 0 0 0.004672 0 0 SNRPN 6638 broad.mit.edu 37 15 25221556 25221556 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr15:25221556C>T ENST00000444203.2 + 4 1311 c.272C>T c.(271-273)cCc>cTc p.P91L SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.P87L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P87L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P87L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P87L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P87L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P87L|SNRPN_ENST00000554227.2_Missense_Mutation_p.P91L P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 87 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GGGCCACCCCCCAAAGATGTA 0.488000 Prader-Willi syndrome 12 51 0 0 0.016723 0 0 PCYT2 5833 broad.mit.edu 37 17 79865452 79865452 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:79865452T>C ENST00000538936.2 - 6 623 c.515A>G c.(514-516)gAg>gGg p.E172G PCYT2_ENST00000331285.3_Missense_Mutation_p.E94G|PCYT2_ENST00000538721.2_Missense_Mutation_p.E172G|PCYT2_ENST00000570388.1_Missense_Mutation_p.E94G|PCYT2_ENST00000570391.1_Missense_Mutation_p.E140G|PCYT2_ENST00000571105.1_Missense_Mutation_p.E172G NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 172 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GTCTGCATACTCCCGGTACTC 0.667000 3 9 0 0 0.004672 0 0 PAAF1 80227 broad.mit.edu 37 11 73620473 73620473 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:73620473G>A ENST00000544909.1 + 5 822 c.565G>A c.(565-567)Ggg>Agg p.G189R PAAF1_ENST00000535604.1_Missense_Mutation_p.G73R|PAAF1_ENST00000376384.5_Missense_Mutation_p.G171R|PAAF1_ENST00000541951.1_Missense_Mutation_p.G73R|PAAF1_ENST00000544552.1_Missense_Mutation_p.G171R|PAAF1_ENST00000310571.3_Missense_Mutation_p.G188R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G171R Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 188 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) CGTTGATCGGGGGAGGAATGT 0.507000 12 85 0 0 0.024245 0 0 LAMA2 3908 broad.mit.edu 37 6 129674405 129674405 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:129674405C>G ENST00000421865.2 + 32 4669 c.4620C>G c.(4618-4620)gaC>gaG p.D1540E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1540 Laminin EGF-like 17. 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) TGCCCTGTGACCCTGTCACAG 0.602000 23 50 0 0 0.018920 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734432 12734432 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:12734432T>A ENST00000380682.1 + 15 2360 c.1854T>A c.(1852-1854)tgT>tgA p.C618* NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 618 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGGCCCCCTGTGAGGCAGACT 0.532000 47 30 0 0 0.048971 0 0 LRP1B 53353 broad.mit.edu 37 2 141027836 141027836 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:141027836G>C ENST00000389484.3 - 86 14193 c.13222C>G c.(13222-13224)Ccc>Gcc p.P4408A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4408 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTGTCTCGGGGTCCAGCTGG 0.403000 TSP Lung(27;0.18) 19 38 0 0 0.012319 0 0 C10orf76 79591 broad.mit.edu 37 10 103789339 103789339 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:103789339C>A ENST00000311122.5 - 5 589 c.470G>T c.(469-471)tGg>tTg p.W157L C10orf76_ENST00000370033.4_Intron Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 0 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TGATAGTGTCCAGGAACAGCT 0.438000 11 54 3.86212e-05 4.09619e-05 0.008291 1 0 LAMA2 3908 broad.mit.edu 37 6 129714275 129714275 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:129714275G>T ENST00000421865.2 + 37 5369 c.5320G>T c.(5320-5322)Gaa>Taa p.E1774* NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1774 Domain II and I. 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) GGATCTCCGGGAAAAACTGGC 0.448000 17 47 4.7546e-09 5.59365e-09 0.028581 1 0 TRPC5 7224 broad.mit.edu 37 X 111097062 111097062 + Silent SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:111097062T>A ENST00000262839.2 - 4 2091 c.1173A>T c.(1171-1173)acA>acT p.T391T NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 391 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CATGAAGGTCTGTCCTGACAA 0.483000 46 28 0 0 0.048971 0 0 TMEM213 155006 broad.mit.edu 37 7 138487681 138487681 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:138487681G>A ENST00000442682.2 + 3 344 c.191G>A c.(190-192)cGc>cAc p.R64H TMEM213_ENST00000397602.3_Missense_Mutation_p.R63H|TMEM213_ENST00000458494.1_Missense_Mutation_p.R40H|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000422794.2_Missense_Mutation_p.R114H NM_001085429.1 NP_001078898.1 A2RRL7 TM213_HUMAN transmembrane protein 213 64 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(1) 6 CGGTGCTGCCGCACAGGAGTG 0.627000 19 36 0 0 0.055883 0 0 NDST4 64579 broad.mit.edu 37 4 115998155 115998155 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:115998155G>T ENST00000264363.2 - 2 716 c.38C>A c.(37-39)aCa>aAa p.T13K NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 13 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AACAATCAATGTTCGAAAACT 0.348000 4 20 0.00909568 0.00926106 0.009096 1 0 TMPRSS9 360200 broad.mit.edu 37 19 2408379 2408379 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:2408379G>A ENST00000332578.3 + 7 766 c.766G>A c.(766-768)Gcc>Acc p.A256T NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 256 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) GAAGTGGGTGGCCTACGTGGG 0.672000 17 21 0 0 0.012319 0 0 ATRX 546 broad.mit.edu 37 X 76907828 76907828 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:76907828C>G ENST00000373344.5 - 15 4547 c.4333G>C c.(4333-4335)Gaa>Caa p.E1445Q ATRX_ENST00000395603.3_Missense_Mutation_p.E1407Q|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1445 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) tcctcctcttcttcctcAGAA 0.378000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 22 21 0 0 0.055883 0 0 EIF2B3 8891 broad.mit.edu 37 1 45444037 45444037 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:45444037C>T ENST00000360403.2 - 3 370 c.244G>A c.(244-246)Gct>Act p.A82T EIF2B3_ENST00000372183.3_Missense_Mutation_p.A82T|EIF2B3_ENST00000480675.1_5'UTR NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 82 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) CCCATGTCAGCGTCATCAGGA 0.363000 62 106 0 0 0.048971 0 0 MMRN1 22915 broad.mit.edu 37 4 90856493 90856493 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:90856493G>T ENST00000394980.1 + 7 1981 c.1662G>T c.(1660-1662)aaG>aaT p.K554N MMRN1_ENST00000264790.2_Missense_Mutation_p.K554N|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.K296N Q13201 MMRN1_HUMAN multimerin 1 554 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AAAATATAAAGAAGCAGAGTT 0.383000 10 59 5.50884e-06 5.93259e-06 0.013537 1 0 CAMTA1 23261 broad.mit.edu 37 1 7724486 7724486 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:7724486G>T ENST00000303635.7 + 9 2086 c.1879G>T c.(1879-1881)Gtc>Ttc p.V627F CAMTA1_ENST00000439411.2_Missense_Mutation_p.V627F NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ACCCCTCCCCGTCGAGCAGAA 0.652000 T WWTR1 epitheliod hemangioendothelioma 79 81 2.27196e-54 3.18074e-54 0.048971 1 0 SYNE3 161176 broad.mit.edu 37 14 95922000 95922000 + Missense_Mutation SNP G G T rs143391386 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:95922000G>T ENST00000334258.5 - 5 865 c.851C>A c.(850-852)gCg>gAg p.A284E SYNE3_ENST00000557275.1_Missense_Mutation_p.A284E|SYNE3_ENST00000553340.1_Missense_Mutation_p.A284E|SYNE3_ENST00000554873.1_Missense_Mutation_p.A41E NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 AATGACACCCGCAGACTGCTC 0.567000 20 181 3.8784e-16 5.07455e-16 0.012319 1 0 FAM155A 728215 broad.mit.edu 37 13 108518775 108518775 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr13:108518775C>A ENST00000375915.2 - 1 308 c.170G>T c.(169-171)tGg>tTg p.W57L NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 57 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GGCGCAGAACCACAAGTGATC 0.602000 75 74 1.23106e-19 1.65719e-19 0.048971 1 0 SYBU 55638 broad.mit.edu 37 8 110587410 110587410 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:110587410G>C ENST00000399066.3 - 6 2435 c.1708C>G c.(1708-1710)Ctc>Gtc p.L570V SYBU_ENST00000422135.1_Missense_Mutation_p.L573V|SYBU_ENST00000533895.1_Missense_Mutation_p.L572V|SYBU_ENST00000408889.3_Missense_Mutation_p.L454V|SYBU_ENST00000528331.1_Missense_Mutation_p.L454V|SYBU_ENST00000424158.2_Missense_Mutation_p.L578V|SYBU_ENST00000533171.1_Missense_Mutation_p.L573V|SYBU_ENST00000419099.1_Missense_Mutation_p.L572V|SYBU_ENST00000533065.1_Missense_Mutation_p.L454V|SYBU_ENST00000433638.1_Missense_Mutation_p.L573V|SYBU_ENST00000276646.9_Missense_Mutation_p.L573V|SYBU_ENST00000532779.1_Missense_Mutation_p.L505V|SYBU_ENST00000440310.1_Missense_Mutation_p.L573V|SYBU_ENST00000408908.2_Missense_Mutation_p.L573V|SYBU_ENST00000529690.1_Missense_Mutation_p.L443V|SYBU_ENST00000529175.1_Missense_Mutation_p.L367V|SYBU_ENST00000446070.2_Missense_Mutation_p.L572V|SYBU_ENST00000528647.1_Missense_Mutation_p.L572V NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 573 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TCTCTCATGAGGCGGTTTGCA 0.547000 12 69 0 0 0.010729 0 0 CACNG5 27091 broad.mit.edu 37 17 64881204 64881204 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:64881204C>T ENST00000533854.1 + 6 912 c.675C>T c.(673-675)tcC>tcT p.S225S CACNG5_ENST00000307139.3_Silent_p.S225S Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 225 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GCAACTGCTCCGATTACTCAG 0.622000 13 35 0 0 0.016723 0 0 SDK1 221935 broad.mit.edu 37 7 4188976 4188976 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:4188976C>T ENST00000404826.2 + 30 4645 c.4506C>T c.(4504-4506)ggC>ggT p.G1502G SDK1_ENST00000389531.3_Silent_p.G1502G NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1502 Fibronectin type-III 9. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGGTCCCGGGCAGCGACGGGG 0.677000 10 22 0 0 0.008291 0 0 TMEM132A 54972 broad.mit.edu 37 11 60699222 60699222 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:60699222G>T ENST00000005286.4 + 6 1234 c.1081G>T c.(1081-1083)Ggc>Tgc p.G361C TMEM132A_ENST00000453848.2_Missense_Mutation_p.G360C NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 360 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CACTGGTGGGGGCGTAGCGGT 0.567000 27 131 1.68575e-08 1.93447e-08 0.034045 1 0 CYP4F3 4051 broad.mit.edu 37 19 15760804 15760804 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:15760804A>T ENST00000221307.7 + 7 777 c.729A>T c.(727-729)atA>atT p.I243I CYP4F3_ENST00000585846.1_Silent_p.I243I|CYP4F3_ENST00000591058.1_Silent_p.I243I|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.I243I NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 243 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TCCTGTACATAGACTTCCTGT 0.562000 7 71 0 0 0.045705 0 0 MYH15 22989 broad.mit.edu 37 3 108100408 108100408 + Splice_Site SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:108100408T>G ENST00000273353.3 - 42 5883 c.e42-2 NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTCTTGAACCTGAAAAACAGA 0.453000 58 98 0 0 0.048971 0 0 RLF 6018 broad.mit.edu 37 1 40705888 40705888 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:40705888G>C ENST00000372771.4 + 8 5541 c.5514G>C c.(5512-5514)gaG>gaC p.E1838D NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1838 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CAATTCATGAGAACCTGACTG 0.398000 15 85 0 0 0.028581 0 0 WDR55 54853 broad.mit.edu 37 5 140048308 140048308 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:140048308G>T ENST00000358337.5 + 4 729 c.492G>T c.(490-492)atG>atT p.M164I NM_017706.4 NP_060176.2 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 164 rRNA processing cytoplasm|nucleolus NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAATGGATATGAGGCAACATG 0.537000 9 38 0.0477658 0.0482831 0.047766 1 0 TMEM167A 153339 broad.mit.edu 37 5 82357723 82357723 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:82357723C>T ENST00000502346.1 - 3 293 c.121G>A c.(121-123)Ggt>Agt p.G41S TMEM167A_ENST00000511450.1_5'UTR NM_174909.4 NP_777569.1 Q8TBQ9 KISHA_HUMAN transmembrane protein 167A 41 Golgi membrane|integral to membrane large_intestine(1)|lung(1) 2 CAAAATATACCCAACAATCTG 0.303000 9 40 0 0 0.008291 0 0 TRIM42 287015 broad.mit.edu 37 3 140409849 140409849 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:140409849G>A ENST00000286349.3 + 4 2091 c.1900G>A c.(1900-1902)Gag>Aag p.E634K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 634 Fibronectin type-III. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GGACTCTTTTGAGATGGAATT 0.418000 19 78 0 0 0.012319 0 0 LRP1B 53353 broad.mit.edu 37 2 141128763 141128763 + Silent SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:141128763A>G ENST00000389484.3 - 70 11831 c.10860T>C c.(10858-10860)gcT>gcC p.A3620A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3620 LDL-receptor class A 28. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGAACCATCAGCACAATCAT 0.303000 TSP Lung(27;0.18) 3 21 0 0 0.004672 0 0 CNTN6 27255 broad.mit.edu 37 3 1444056 1444056 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:1444056A>G ENST00000446702.2 + 22 3499 c.2872A>G c.(2872-2874)Aca>Gca p.T958A CNTN6_ENST00000539053.1_Missense_Mutation_p.T886A|CNTN6_ENST00000350110.2_Missense_Mutation_p.T958A Q9UQ52 CNTN6_HUMAN contactin 6 958 Fibronectin type-III 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AACAAACAATACATCAGCTGA 0.368000 19 21 0 0 0.043863 0 0 GLRB 2743 broad.mit.edu 37 4 158060002 158060002 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:158060002G>T ENST00000264428.4 + 7 922 c.652G>T c.(652-654)Gga>Tga p.G218* GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000541722.1_Nonsense_Mutation_p.G218* NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 218 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CTGGCAGTCAGGAGATCCTGT 0.284000 12 70 2.61681e-11 3.24207e-11 0.020292 1 0 TDG 6996 broad.mit.edu 37 12 104373699 104373699 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:104373699G>T ENST00000392872.3 + 3 491 c.257G>T c.(256-258)gGc>gTc p.G86V TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.G82V NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 86 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAAAAATCTGGCAAGTCTGCA 0.338000 Base excision repair (BER), DNA glycosylases 14 79 1.52009e-12 1.91723e-12 0.024245 1 0 WWC1 23286 broad.mit.edu 37 5 167855056 167855056 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:167855056G>T ENST00000265293.4 + 12 2331 c.1829G>T c.(1828-1830)gGg>gTg p.G610V WWC1_ENST00000521089.1_Missense_Mutation_p.G610V NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 610 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACGGCCCAGGGGTGTGGCCTG 0.542000 15 31 6.31663e-08 7.18966e-08 0.024245 1 0 DOCK4 9732 broad.mit.edu 37 7 111379256 111379256 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:111379256G>A ENST00000428084.1 - 49 5438 c.5166C>T c.(5164-5166)aaC>aaT p.N1722N DOCK4_ENST00000494651.2_Silent_p.N596N|DOCK4_ENST00000437633.1_Silent_p.N1713N Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1713 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ACAGGCAAGAGTTTTCTCGGG 0.483000 15 85 0 0 0.038395 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532025 84532025 + RNA SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr9:84532025T>C ENST00000527857.1 + 0 2047 NR_026851.1 AGGTCCATGTTCCCATCTCCA 0.483000 8 39 0 0 0.047766 0 0 TCL6 27004 broad.mit.edu 37 14 96130030 96130030 + RNA SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:96130030C>A ENST00000467865.1 + 0 438 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) GGACTTTAATCTTAAGTGGAC 0.423000 T TRA@ T-ALL 15 27 2.61681e-11 3.24207e-11 0.020292 1 0 HTR1A 3350 broad.mit.edu 37 5 63256581 63256581 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:63256581C>T ENST00000323865.3 - 1 1199 c.966G>A c.(964-966)gaG>gaA p.E322E RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 322 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CATTTTTCCTCTCGAAAGAGG 0.617000 7 55 0 0 0.038147 0 0 RIPK2 8767 broad.mit.edu 37 8 90798848 90798848 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:90798848G>A ENST00000220751.4 + 9 1371 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K RIPK2_ENST00000540020.1_Missense_Mutation_p.E216K NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 353 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|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 cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TCAGCTCCATGAAAATAGTGG 0.318000 24 112 0 0 0.027356 0 0 KCTD3 51133 broad.mit.edu 37 1 215752341 215752341 + Splice_Site SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:215752341A>G ENST00000259154.4 + 7 691 c.e7-1 NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TTCTCTTTATAGGTATTCCTA 0.333000 4 28 0 0 0.014758 0 0 TECTA 7007 broad.mit.edu 37 11 120984288 120984288 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:120984288C>T ENST00000392793.1 + 6 922 c.651C>T c.(649-651)acC>acT p.T217T TECTA_ENST00000264037.2_Silent_p.T217T O75443 TECTA_HUMAN tectorin alpha 217 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GAAACCTCACCAATTTCTTCA 0.468000 10 53 0 0 0.008291 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 5 36 0 0 0.014758 0 0 RIMS3 9783 broad.mit.edu 37 1 41101587 41101587 + Splice_Site SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:41101587C>A ENST00000372684.3 - 4 829 c.e4+1 RIMS3_ENST00000372683.1_Splice_Site NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) GCTGCACGCACGTGCCGTCGG 0.667000 14 55 1.15088e-07 1.30464e-07 0.028581 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68675796 68675796 + Missense_Mutation SNP G G A rs138448914 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:68675796G>A ENST00000255078.3 + 3 551 c.440G>A c.(439-441)cGa>cAa p.R147Q IGHMBP2_ENST00000539224.1_Missense_Mutation_p.R147Q NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 147 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACTTACAGGCGACTGAAAAAG 0.453000 44 57 0 0 0.045515 0 0 FAM208B 54906 broad.mit.edu 37 10 5790610 5790610 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:5790610G>A ENST00000328090.5 + 15 5851 c.5226G>A c.(5224-5226)aaG>aaA p.K1742K NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1742 GTGAAACAAAGGAGCTATTGA 0.498000 13 40 0 0 0.013537 0 0 BEX4 56271 broad.mit.edu 37 X 102471104 102471104 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:102471104C>A ENST00000372695.5 + 3 258 c.23C>A c.(22-24)gCg>gAg p.A8E BEX4_ENST00000372691.3_Missense_Mutation_p.A8E NM_001080425.3 NP_001073894.1 Q9NWD9 BEX4_HUMAN brain expressed, X-linked 4 8 cytoplasm|nucleus endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 9 GAGGAACTAGCGGCAAACAAT 0.512000 20 21 7.21436e-19 9.57356e-19 0.049695 1 0 FER1L5 90342 broad.mit.edu 37 2 97370099 97370099 + RNA SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:97370099G>A ENST00000457909.1 + 0 5452 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 ATTCAGCTCCGGTGAGTGGCA 0.483000 58 120 0 0 0.048971 0 0 DHX8 1659 broad.mit.edu 37 17 41570954 41570954 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:41570954G>A ENST00000262415.3 + 7 1077 c.1005G>A c.(1003-1005)atG>atA p.M335I DHX8_ENST00000540306.1_Missense_Mutation_p.M335I NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 335 S1 motif. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GCCTGAGCATGAAGGTAGGTG 0.527000 15 70 0 0 0.020292 0 0 DCDC1 341019 broad.mit.edu 37 11 31327197 31327197 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:31327197C>A ENST00000597505.1 - 4 718 c.719G>T c.(718-720)gGa>gTa p.G240V DCDC1_ENST00000452803.1_Missense_Mutation_p.G240V P59894 DCDC1_HUMAN doublecortin domain containing 1 240 Doublecortin. intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) AAAGGGCTCTCCCGTTGAAAC 0.413000 31 69 6.05902e-23 8.23556e-23 0.017118 1 0 TRIM58 25893 broad.mit.edu 37 1 248028155 248028155 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:248028155T>A ENST00000366481.3 + 3 713 c.665T>A c.(664-666)cTg>cAg p.L222Q NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 222 intracellular zinc ion binding p.L222P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGAGCCGGCTGGTCCAGCAG 0.692000 7 22 0 0 0.029380 0 0 IPO7 10527 broad.mit.edu 37 11 9459832 9459832 + Splice_Site SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:9459832G>A ENST00000379719.3 + 22 2837 c.2695_splice c.e22+1 p.E899_splice NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 899 Asp-rich. interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) tgatgaAACCGGTAAGGGATT 0.428000 32 33 0 0 0.037714 0 0 CSNK2A1 1457 broad.mit.edu 37 20 489118 489118 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr20:489118G>T ENST00000217244.3 - 3 453 c.78C>A c.(76-78)taC>taA p.Y26* CSNK2A1_ENST00000400217.1_Intron|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000460062.1_Intron NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 26 axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CATGTGACTCGTAATCCCAGT 0.458000 33 29 1.59361e-14 2.04684e-14 0.027894 1 0 PCDHA2 56146 broad.mit.edu 37 5 140184653 140184653 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:140184653C>T ENST00000520672.2 + 2 2503 c.2397C>T c.(2395-2397)aaC>aaT p.N799N PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATATGGAACTTCAATCTTC 0.358000 6 8 0 0 0.047766 0 0 PDX1 3651 broad.mit.edu 37 13 28498541 28498541 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr13:28498541G>C ENST00000381033.4 + 2 674 c.555G>C c.(553-555)ttG>ttC p.L185F NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 185 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) TGTTGAACTTGACCGAGAGAC 0.587000 5 71 0 0 0.021553 0 0 ITPR2 3709 broad.mit.edu 37 12 26818845 26818845 + Nonsense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:26818845G>A ENST00000381340.3 - 14 1965 c.1549C>T c.(1549-1551)Cag>Tag p.Q517* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 517 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AAATTCACCTGTGCCAGTATG 0.343000 21 50 0 0 0.016522 0 0 GALNT14 79623 broad.mit.edu 37 2 31133837 31133837 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:31133837C>G ENST00000349752.5 - 15 2228 c.1589G>C c.(1588-1590)gGc>gCc p.G530A GALNT14_ENST00000324589.5_Missense_Mutation_p.G535A|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.G510A|GALNT14_ENST00000356174.3_Missense_Mutation_p.G497A|GALNT14_ENST00000420311.2_Missense_Mutation_p.G495A NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 530 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GATTTCCTTGCCGTTCTCGGT 0.542000 16 71 0 0 0.043863 0 0 ACAN 176 broad.mit.edu 37 15 89398229 89398229 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr15:89398229C>A ENST00000439576.2 + 12 2787 c.2413C>A c.(2413-2415)Cca>Aca p.P805T ACAN_ENST00000561243.1_Missense_Mutation_p.P805T|ACAN_ENST00000559004.1_Missense_Mutation_p.P805T|ACAN_ENST00000352105.7_Missense_Mutation_p.P805T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 805 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) CTCAGAGGAACCATTCCCCTC 0.602000 7 8 0.000157383 0.000165667 0.038147 1 0 ADSL 158 broad.mit.edu 37 22 40757501 40757501 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr22:40757501C>G ENST00000216194.7 + 9 928 c.872C>G c.(871-873)gCg>gGg p.A291G ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.A291G|ADSL_ENST00000454266.2_Missense_Mutation_p.A305G NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 291 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity p.A291V(2) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 GGCTCAAGTGCGATGCCATAT 0.527000 18 98 0 0 0.055883 0 0 ABCA13 154664 broad.mit.edu 37 7 48312325 48312325 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:48312325T>A ENST00000435803.1 + 17 3086 c.3062T>A c.(3061-3063)cTt>cAt p.L1021H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1021 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCAGAGGTTCTTGGGGGAATT 0.338000 8 13 0 0 0.038147 0 0 PCDH10 57575 broad.mit.edu 37 4 134073285 134073285 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:134073285G>T ENST00000264360.4 + 1 2816 c.1990G>T c.(1990-1992)Ggg>Tgg p.G664W NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 664 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GCGCGACCATGGGCAGCCGCC 0.731000 5 35 0.000602214 0.000624519 0.014758 1 0 NPPB 4879 broad.mit.edu 37 1 11918291 11918291 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:11918291G>A ENST00000376468.3 - 2 465 c.368C>T c.(367-369)tCc>tTc p.S123F NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 123 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) CAGGCCACTGGAGGAGCTGAT 0.602000 23 32 0 0 0.018920 0 0 IFIH1 64135 broad.mit.edu 37 2 163134806 163134806 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:163134806C>A ENST00000263642.2 - 9 2069 c.1674G>T c.(1672-1674)atG>atT p.M558I NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 558 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 GAATCCTTGTCATTATTTCTA 0.289000 5 38 1.23904e-05 1.32924e-05 0.014758 1 0 KRT34 3885 broad.mit.edu 37 17 39538432 39538432 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:39538432G>T ENST00000394001.1 - 1 223 c.193C>A c.(193-195)Ccc>Acc p.P65T NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 65 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CAGCTGGGGGGCACGCAGGGC 0.622000 19 72 1.01871e-10 1.25105e-10 0.049695 1 0 SLC29A4 222962 broad.mit.edu 37 7 5342477 5342477 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:5342477C>T ENST00000396872.2 + 11 1661 c.1500C>T c.(1498-1500)gcC>gcT p.A500A SLC29A4_ENST00000439491.2_Intron|SLC29A4_ENST00000297195.4_Silent_p.A500A|SLC29A4_ENST00000406453.3_Silent_p.A486A NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 500 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TGGGGTCCGCCGTGGCCTACT 0.677000 3 3 0 0 0.004672 0 0 CDHR2 54825 broad.mit.edu 37 5 176005489 176005489 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:176005489G>A ENST00000510636.1 + 16 1972 c.1698G>A c.(1696-1698)ctG>ctA p.L566L CDHR2_ENST00000506348.1_Silent_p.L566L|CDHR2_ENST00000261944.5_Silent_p.L566L NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 566 Cadherin 5. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GCGGGAACCTGTCCTCCTCCA 0.627000 4 23 0 0 0.014758 0 0 QSOX1 5768 broad.mit.edu 37 1 180159622 180159622 + Missense_Mutation SNP C C T rs143670617 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:180159622C>T ENST00000367602.3 + 10 1269 c.1195C>T c.(1195-1197)Cat>Tat p.H399Y QSOX1_ENST00000367600.5_Missense_Mutation_p.H399Y O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 399 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GAGTGAGCCGCATTTCCGGGG 0.557000 50 121 0 0 0.048971 0 0 LIN7A 8825 broad.mit.edu 37 12 81331469 81331469 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:81331469C>A ENST00000552864.1 - 1 235 c.33G>T c.(31-33)acG>acT p.T11T NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 11 exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 CCATGTCTGCCGTGGGAGCCG 0.637000 6 13 0.00198382 0.00204217 0.029380 1 0 KIF2B 84643 broad.mit.edu 37 17 51900732 51900732 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:51900732C>T ENST00000268919.4 + 1 494 c.338C>T c.(337-339)aCg>aTg p.T113M NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 113 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.T113M(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CGTACCGCCACGAAATGGGTT 0.592000 19 92 0 0 0.043863 0 0 COL19A1 1310 broad.mit.edu 37 6 70778326 70778326 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:70778326G>T ENST00000322773.4 + 15 1284 c.1182G>T c.(1180-1182)ggG>ggT p.G394G COL19A1_ENST00000393344.1_Silent_p.G16G NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 394 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GTTCCCTGGGGATACAAGGCC 0.418000 13 38 1.67942e-08 1.93447e-08 0.038395 1 0 TSR3 115939 broad.mit.edu 37 16 1400139 1400139 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr16:1400139C>A ENST00000007390.2 - 4 729 c.623G>T c.(622-624)tGc>tTc p.C208F NM_001001410.2 NP_001001410.1 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) CGGGCTGCCGCAGGCCGCGTA 0.622000 17 18 1.5739e-10 1.92442e-10 0.028581 1 0 SLC35F3 148641 broad.mit.edu 37 1 234367481 234367481 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:234367481G>A ENST00000366618.3 + 3 747 c.602G>A c.(601-603)cGa>cAa p.R201Q SLC35F3_ENST00000366617.3_Missense_Mutation_p.R132Q NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 132 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GTGAAGCAGCGATACAGGTAG 0.597000 23 138 0 0 0.014323 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4499579 4499579 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:4499579A>G ENST00000301284.4 + 14 1731 c.1667A>G c.(1666-1668)gAg>gGg p.E556G HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E556G NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 556 transcription, DNA-dependent nucleus DNA binding|protein binding CCAAAGATCgaggcggtgcag 0.622000 8 3 0 0 0.038147 0 0 EDN3 1908 broad.mit.edu 37 20 57896161 57896161 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr20:57896161C>T ENST00000311585.7 + 3 825 c.455C>T c.(454-456)tCa>tTa p.S152L EDN3_ENST00000395654.3_Missense_Mutation_p.S152L|EDN3_ENST00000337938.2_Missense_Mutation_p.S152L|EDN3_ENST00000371025.3_Missense_Mutation_p.S152L|EDN3_ENST00000371028.2_Missense_Mutation_p.S152L NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 152 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) CTGCAGCTCTCACATCGGCCA 0.582000 33 77 0 0 0.054565 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919048 8919048 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:8919048G>T ENST00000256707.3 - 19 2773 c.2592C>A c.(2590-2592)gaC>gaA p.D864E KIDINS220_ENST00000427284.1_Missense_Mutation_p.D864E|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D822E|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D865E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D864E NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 864 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGCATGGAACGTCTCCATTTG 0.398000 17 114 1.33834e-09 1.59461e-09 0.043863 1 0 FBXO18 84893 broad.mit.edu 37 10 5953002 5953002 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:5953002G>T ENST00000379999.5 + 7 1379 c.1275G>T c.(1273-1275)acG>acT p.T425T FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.T374T|FBXO18_ENST00000379994.1_Silent_p.T111T NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 374 K -> N (in Ref. 2; AAP97705). DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 CCAGCTCCACGGTGACCATGC 0.582000 17 96 1.33834e-09 1.59461e-09 0.043863 1 0 ZNF506 440515 broad.mit.edu 37 19 19905448 19905448 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:19905448C>G ENST00000443905.2 - 4 1395 c.1248G>C c.(1246-1248)aaG>aaC p.K416N CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.K416N|ZNF506_ENST00000450683.2_Missense_Mutation_p.K384N|CTC-559E9.6_ENST00000591884.1_RNA Q5JVG8 ZN506_HUMAN zinc finger protein 506 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 TATGAATTTTCTTATGTTTAT 0.338000 28 29 0 0 0.030593 0 0 PCLO 27445 broad.mit.edu 37 7 82582945 82582945 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:82582945T>A ENST00000423517.2 - 5 7661 c.7324A>T c.(7324-7326)Aag>Tag p.K2442* PCLO_ENST00000333891.8_Nonsense_Mutation_p.K2442* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2373 Pro-rich. 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 ACTGTTAACTTTTTTTTAGGA 0.498000 3 12 0 0 0.004672 0 0 MBD5 55777 broad.mit.edu 37 2 149226943 149226943 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:149226943A>T ENST00000407073.1 + 9 2428 c.1431A>T c.(1429-1431)gtA>gtT p.V477V MBD5_ENST00000404807.1_Silent_p.V477V NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 477 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TGCCACCTGTAGGACCCCAGG 0.502000 7 31 0 0 0.029380 0 0 OR52N4 390072 broad.mit.edu 37 11 5776293 5776293 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:5776293C>G ENST00000317254.3 + 1 371 c.323C>G c.(322-324)aCc>aGc p.T108S TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TTCACCCACACCTTCACAGGG 0.483000 18 72 0 0 0.043863 0 0 FAM184A 79632 broad.mit.edu 37 6 119341265 119341265 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:119341265C>A ENST00000338891.7 - 4 1653 c.1210G>T c.(1210-1212)Gaa>Taa p.E404* FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E284*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E284*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E284*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E404* NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 404 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTTTCTGATTCTAAATCTTTA 0.363000 13 35 9.05144e-12 1.1365e-11 0.016723 1 0 TRPM3 80036 broad.mit.edu 37 9 73150933 73150933 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr9:73150933C>A ENST00000377110.2 - 25 5303 c.5060G>T c.(5059-5061)aGc>aTc p.S1687I TRPM3_ENST00000377105.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1559I|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1546I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1559I|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1536I|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1549I|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1549I|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1714I|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1691I NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1712 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CATGGACAGGCTGTCCCCTCG 0.522000 40 72 2.19489e-29 3.04242e-29 0.025465 1 0 FMO4 2329 broad.mit.edu 37 1 171310604 171310604 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:171310604G>T ENST00000367749.3 + 10 1633 c.1303G>T c.(1303-1305)Gat>Tat p.D435Y NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 435 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGCCTACATGGATGATATCGC 0.473000 18 34 1.45105e-14 1.87232e-14 0.038395 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886180 88886180 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:88886180C>G ENST00000319675.3 - 1 116 c.20G>C c.(19-21)cGa>cCa p.R7P NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 7 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTCGAGCAGTCGCGGTCTTTT 0.522000 14 34 0 0 0.020292 0 0 RGL1 23179 broad.mit.edu 37 1 183876207 183876207 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:183876207C>T ENST00000304685.3 + 15 2100 c.1639C>T c.(1639-1641)Cgg>Tgg p.R547W RGL1_ENST00000536277.1_Missense_Mutation_p.R510W|RGL1_ENST00000367531.1_Missense_Mutation_p.R547W|RGL1_ENST00000360851.3_Missense_Mutation_p.R512W|RGL1_ENST00000539189.1_Missense_Mutation_p.R483W NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 512 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GCCCAAGCCTCGGAAGAGCAT 0.557000 7 8 0 0 0.047766 0 0 CEP112 201134 broad.mit.edu 37 17 64062993 64062993 + Silent SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:64062993A>G ENST00000392769.2 - 10 1076 c.858T>C c.(856-858)atT>atC p.I286I CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000535342.2_Silent_p.I286I|CEP112_ENST00000537949.1_Silent_p.I244I NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 286 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 TTCTTTCTAAAATCTGCAAAT 0.244000 7 13 0 0 0.029380 0 0 WDR78 79819 broad.mit.edu 37 1 67292591 67292591 + Missense_Mutation SNP A A C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:67292591A>C ENST00000371026.3 - 15 2306 c.2251T>G c.(2251-2253)Tac>Gac p.Y751D WDR78_ENST00000431318.1_Missense_Mutation_p.Y464D NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 751 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GCAACGTCGTAAACAACAGAA 0.398000 21 94 0 0 0.055883 0 0 CILP 8483 broad.mit.edu 37 15 65490300 65490300 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr15:65490300A>G ENST00000261883.4 - 9 2490 c.2324T>C c.(2323-2325)aTc>aCc p.I775T NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 775 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 AATCACGGAGATCACAACCCC 0.562000 54 87 0 0 0.048971 0 0 NPHS1 4868 broad.mit.edu 37 19 36340485 36340485 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:36340485G>T ENST00000378910.5 - 6 678 c.679C>A c.(679-681)Ccc>Acc p.P227T NPHS1_ENST00000353632.6_Missense_Mutation_p.P227T NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 227 Ig-like C2-type 2. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCTTGATGGGGGCCTCCAGT 0.587000 28 55 1.30988e-24 1.79787e-24 0.045705 1 0 WBP11P1 441818 broad.mit.edu 37 18 30092097 30092097 + RNA SNP C C T rs718721 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr18:30092097C>T ENST00000567636.1 + 0 472 NR_003558.1 TATTCTATGACTCTATGAAAA 0.348000 3 10 0 0 0.004672 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757693 99757693 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:99757693C>A ENST00000360039.4 - 4 1711 c.1319G>T c.(1318-1320)cGg>cTg p.R440L GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440L|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378L|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 440 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAATCCACTCCGAAGTATATA 0.557000 14 67 1.05317e-09 1.26561e-09 0.020292 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37419231 37419231 + Nonsense_Mutation SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:37419231T>G ENST00000374660.1 + 3 366 c.267T>G c.(265-267)taT>taG p.Y89* ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y89*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y89* Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 145 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTCTCCATTATGCTGTTTATA 0.433000 16 32 0 0 0.028581 0 0 PAPPA 5069 broad.mit.edu 37 9 119097340 119097340 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr9:119097340C>A ENST00000328252.3 + 13 3967 c.3598C>A c.(3598-3600)Cct>Act p.P1200T PAPPA_ENST00000534838.1_Missense_Mutation_p.P238T NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1200 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GACCTACAGCCCTGCCGAGCA 0.617000 9 54 0.00829132 0.00850392 0.008291 1 0 EGLN1 54583 broad.mit.edu 37 1 231556851 231556851 + Missense_Mutation SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:231556851T>G ENST00000366641.3 - 1 3939 c.784A>C c.(784-786)Aag>Cag p.K262Q NM_022051.2 NP_071334.1 Q9GZT9 EGLN1_HUMAN egl-9 family hypoxia-inducible factor 1 262 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) CCGGGCTCCTTGCCCTCGATC 0.592000 58 66 0 0 0.048971 0 0 PIGK 10026 broad.mit.edu 37 1 77627356 77627356 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:77627356C>A ENST00000370812.3 - 7 648 c.625G>T c.(625-627)Gca>Tca p.A209S PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.A133S|PIGK_ENST00000359130.1_Missense_Mutation_p.A209S|PIGK_ENST00000445065.1_Missense_Mutation_p.A115S NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 209 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 TACATGGATGCTCCTTGGCAA 0.358000 35 59 1.36161e-19 1.82417e-19 0.019004 1 0 SLC30A2 7780 broad.mit.edu 37 1 26370885 26370885 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:26370885G>T ENST00000374276.3 - 3 558 c.322C>A c.(322-324)Ctc>Atc p.L108I SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374278.3_Intron NM_001004434.1 NP_001004434.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 90 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) AAGTCAGTGAGCAGGTGTGCT 0.597000 5 17 5.9392e-07 6.59911e-07 0.021553 1 0 STXBP4 252983 broad.mit.edu 37 17 53158524 53158524 + Missense_Mutation SNP G G A rs35447433 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:53158524G>A ENST00000376352.2 + 16 1676 c.1469G>A c.(1468-1470)cGt>cAt p.R490H STXBP4_ENST00000434978.2_Missense_Mutation_p.R468H NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 490 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 AAATCTGTTCGTGCCTTACTT 0.378000 7 14 0 0 0.029380 0 0 ZNF135 7694 broad.mit.edu 37 19 58579086 58579086 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:58579086T>A ENST00000506786.1 + 5 1662 c.1108T>A c.(1108-1110)Tgt>Agt p.C370S ZNF135_ENST00000439855.2_Missense_Mutation_p.C412S|ZNF135_ENST00000401053.4_Missense_Mutation_p.C436S|ZNF135_ENST00000511556.1_Missense_Mutation_p.C424S|ZNF135_ENST00000313434.5_Missense_Mutation_p.C412S|ZNF135_ENST00000359978.6_Intron B4DHH9 B4DHH9_HUMAN zinc finger protein 135 424 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) GCCCTATGAGTGTGGTGAGTG 0.542000 18 25 0 0 0.033300 0 0 COL11A1 1301 broad.mit.edu 37 1 103405901 103405901 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:103405901A>T ENST00000358392.2 - 43 3719 c.3402T>A c.(3400-3402)ccT>ccA p.P1134P COL11A1_ENST00000353414.4_Silent_p.P1083P|COL11A1_ENST00000512756.1_Silent_p.P1006P|COL11A1_ENST00000370096.3_Silent_p.P1122P NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1122 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CGTCTTCCCCAGGGGAGCCGG 0.463000 25 39 0 0 0.045705 0 0 MYEOV2 150678 broad.mit.edu 37 2 241066107 241066107 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:241066107C>A ENST00000307266.3 - 5 631 c.632G>T c.(631-633)aGc>aTc p.S211I NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCTGTCTTCGCTGACCTCTCG 0.478000 41 57 2.66277e-13 3.37364e-13 0.027894 1 0 IGKV1D-17 28900 broad.mit.edu 37 2 90122049 90122049 + RNA SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:90122049T>A ENST00000483379.1 + 0 448 GCAGTGGATCTGGGACAGAAT 0.483000 61 96 0 0 0.048971 0 0 LPHN3 23284 broad.mit.edu 37 4 62758534 62758534 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:62758534C>G ENST00000512091.1 + 9 2184 c.1437C>G c.(1435-1437)gaC>gaG p.D479E LPHN3_ENST00000511324.1_Missense_Mutation_p.D547E|LPHN3_ENST00000504896.1_Missense_Mutation_p.D479E|LPHN3_ENST00000509896.1_Missense_Mutation_p.D547E|LPHN3_ENST00000507164.1_Missense_Mutation_p.D547E|LPHN3_ENST00000506720.1_Missense_Mutation_p.D547E|LPHN3_ENST00000508946.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506700.1_Missense_Mutation_p.D479E|LPHN3_ENST00000508693.1_Missense_Mutation_p.D547E|LPHN3_ENST00000545650.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514996.1_Missense_Mutation_p.D479E|LPHN3_ENST00000507625.1_Missense_Mutation_p.D547E|LPHN3_ENST00000514591.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514157.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506746.1_Missense_Mutation_p.D547E Q9HAR2 LPHN3_HUMAN latrophilin 3 479 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TACTTGATGACATGACCACAC 0.527000 9 42 0 0 0.006214 0 0 C11orf52 91894 broad.mit.edu 37 11 111796827 111796827 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:111796827G>T ENST00000278601.5 + 4 372 c.276G>T c.(274-276)gtG>gtT p.V92V C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR NM_080659.2 NP_542390.2 Q96A22 CK052_HUMAN chromosome 11 open reading frame 52 92 lung(2)|ovary(1) 3 all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) CCCGGGAAGTGAAACACGTGC 0.552000 7 49 8.12818e-05 8.58827e-05 0.029380 1 0 PCDHA8 56140 broad.mit.edu 37 5 140223207 140223207 + Silent SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:140223207G>C ENST00000531613.1 + 1 2301 c.2301G>C c.(2299-2301)acG>acC p.T767T PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.T767T NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGAAGACGGACCTCATGG 0.572000 12 33 0 0 0.013537 0 0 NCAM1 4684 broad.mit.edu 37 11 113105876 113105876 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:113105876G>A ENST00000316851.7 + 13 1785 c.1785G>A c.(1783-1785)acG>acA p.T595T NCAM1_ENST00000533760.1_Silent_p.T477T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.T604T NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 605 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGTTCAAGACGCAGCCAGTCC 0.622000 5 17 0 0 0.014758 0 0 ST5 6764 broad.mit.edu 37 11 8737365 8737365 + Splice_Site SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:8737365G>C ENST00000534127.1 - 9 2015 c.1629_splice c.e9-1 p.L544_splice ST5_ENST00000526099.1_Splice_Site_p.L57_splice|ST5_ENST00000357665.1_Splice_Site_p.L544_splice|ST5_ENST00000313726.6_Splice_Site_p.L544_splice|ST5_ENST00000526757.1_Splice_Site_p.L124_splice|ST5_ENST00000530991.1_Splice_Site_p.L16_splice|ST5_ENST00000530438.1_Splice_Site_p.L124_splice NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 544 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TTCAGGGAAAGCTGGCGTGGG 0.632000 18 42 0 0 0.038395 0 0 OR4N2 390429 broad.mit.edu 37 14 20296501 20296501 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:20296501G>T ENST00000315947.1 + 1 894 c.894G>T c.(892-894)atG>atT p.M298I OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGCTTCCATGAAAAAGGTGT 0.353000 14 28 1.5842e-08 1.83296e-08 0.016723 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374223 95374223 + RNA SNP A A G rs9839680 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:95374223A>G ENST00000494840.1 - 0 1638 NR_077228.1 ACGTATGTGCAGTGACATTAC 0.428000 3 29 0 0 0.009096 0 0 AC008268.2 0 broad.mit.edu 37 2 96457948 96457948 + RNA SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:96457948C>T ENST00000471661.1 + 0 116 GTGACTGGTTCGTGGTTCTTC 0.562000 4 18 0 0 0.021553 0 0 ZNF471 57573 broad.mit.edu 37 19 57035697 57035697 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:57035697G>T ENST00000308031.5 + 5 394 c.261G>T c.(259-261)tgG>tgT p.W87C ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) TTTCAGATTGGGAATCTATAT 0.333000 14 50 2.23348e-06 2.44287e-06 0.028581 1 0 KIAA1429 25962 broad.mit.edu 37 8 95538791 95538791 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:95538791C>T ENST00000297591.5 - 8 1756 c.1681G>A c.(1681-1683)Gaa>Aaa p.E561K KIAA1429_ENST00000421249.2_Missense_Mutation_p.E561K|KIAA1429_ENST00000437199.1_Missense_Mutation_p.E561K NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 561 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GACAAGACTTCATAGAAATGG 0.403000 33 164 0 0 0.017118 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204425081 204425081 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:204425081G>A ENST00000367187.3 - 12 2402 c.1846C>T c.(1846-1848)Cgc>Tgc p.R616C PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616C|PIK3C2B_ENST00000496872.1_5'UTR NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 616 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TCATGCTTGCGGCTCCCGGGC 0.612000 39 64 0 0 0.042209 0 0 MYOCD 93649 broad.mit.edu 37 17 12661501 12661501 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:12661501C>T ENST00000425538.1 + 12 2502 c.2302C>T c.(2302-2304)Cct>Tct p.P768S MYOCD_ENST00000395988.1_Missense_Mutation_p.P672S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P720S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 720 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGTAACACAGCCTCCATCCTA 0.393000 11 49 0 0 0.010729 0 0 SMEK2 57223 broad.mit.edu 37 2 55831140 55831140 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:55831140C>T ENST00000272313.5 - 3 598 c.271G>A c.(271-273)Gat>Aat p.D91N SMEK2_ENST00000345102.5_Missense_Mutation_p.D91N|SMEK2_ENST00000407823.3_Missense_Mutation_p.D91N NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 91 WH1. microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAGATCTCATCACAGCCAGCT 0.299000 16 65 0 0 0.055883 0 0 ACTG1 71 broad.mit.edu 37 17 79478246 79478246 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:79478246C>T ENST00000575842.1 - 3 1196 c.770G>A c.(769-771)tGt>tAt p.C257Y ACTG1_ENST00000575087.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000331925.2_Missense_Mutation_p.C257Y|ACTG1_ENST00000573283.1_Missense_Mutation_p.C257Y P63261 ACTG_HUMAN actin, gamma 1 257 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CGCCTCCGGACACCGGAACCG 0.577000 18 108 0 0 0.055883 0 0 SVEP1 79987 broad.mit.edu 37 9 113163273 113163273 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr9:113163273T>C ENST00000401783.2 - 40 10019 c.9683A>G c.(9682-9684)gAg>gGg p.E3228G SVEP1_ENST00000374469.1_Missense_Mutation_p.E3205G|SVEP1_ENST00000297826.5_Missense_Mutation_p.E1154G NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3228 Sushi 30. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GAATGGTGGCTCCCAGGTTCC 0.368000 14 29 0 0 0.024245 0 0 PCCB 5096 broad.mit.edu 37 3 135969356 135969356 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr3:135969356C>T ENST00000471595.1 + 1 157 c.139C>T c.(139-141)Ctg>Ttg p.L47L PCCB_ENST00000478469.1_Silent_p.L47L|PCCB_ENST00000469217.1_Silent_p.L47L|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000251654.4_Silent_p.L47L|PCCB_ENST00000483687.1_Silent_p.L47L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000468777.1_Silent_p.L47L|PCCB_ENST00000462637.1_Silent_p.L47L|PCCB_ENST00000490504.1_Silent_p.L47L|PCCB_ENST00000466072.1_Silent_p.L47L P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 47 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) CCGGACCGCGCTGCTGGGAGG 0.667000 OREG0015823 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 16 0 0 0.010729 0 0 MYOM1 8736 broad.mit.edu 37 18 3116435 3116435 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr18:3116435C>T ENST00000400569.3 - 21 3530 c.3197G>A c.(3196-3198)gGg>gAg p.G1066E MYOM1_ENST00000261606.7_Missense_Mutation_p.G970E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G1066E P52179 MYOM1_HUMAN myomesin 1 1066 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CGGAGTCCGCCCGGAGTGGAC 0.547000 22 23 0 0 0.021523 0 0 AGAP4 119016 broad.mit.edu 37 10 46322017 46322017 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:46322017C>T ENST00000448048.2 - 7 1463 c.1338G>A c.(1336-1338)tcG>tcA p.S446S NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 446 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1)|lung(1)|ovary(1) 3 TGTTTTGGATCGACTGCAGGG 0.552000 63 48 0 0 0.048971 0 0 AHNAK 79026 broad.mit.edu 37 11 62289123 62289123 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:62289123T>C ENST00000378024.4 - 5 13040 c.12766A>G c.(12766-12768)Aag>Gag p.K4256E AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4256 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATGGAGATCTTGGGGGCTTTG 0.478000 61 327 0 0 0.048971 0 0 SYNE1 23345 broad.mit.edu 37 6 152665276 152665276 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:152665276G>T ENST00000367255.5 - 74 12766 c.12165C>A c.(12163-12165)gtC>gtA p.V4055V SYNE1_ENST00000341594.5_Silent_p.V3920V|SYNE1_ENST00000423061.1_Silent_p.V3984V|SYNE1_ENST00000448038.1_Silent_p.V3984V|SYNE1_ENST00000265368.4_Silent_p.V4055V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4055 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.V4055V(2)|p.V3984V(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATCCGGCTGGACTGCAGAAA 0.483000 HNSCC(10;0.0054) 42 39 3.61848e-18 4.77912e-18 0.030466 1 0 ZHX3 23051 broad.mit.edu 37 20 39832794 39832794 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr20:39832794C>A ENST00000309060.3 - 4 1178 c.763G>T c.(763-765)Ggg>Tgg p.G255W ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.G255W|ZHX3_ENST00000559234.1_Missense_Mutation_p.G255W|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.G255W|ZHX3_ENST00000544979.2_Missense_Mutation_p.G255W|ZHX3_ENST00000432768.2_Missense_Mutation_p.G255W Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 255 Required for homodimerization and interaction with NFYA. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) ATCAGGGGCCCGTTGGCGGCA 0.582000 22 69 1.87028e-06 2.05364e-06 0.012319 1 0 LRP1B 53353 broad.mit.edu 37 2 141571366 141571366 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:141571366A>G ENST00000389484.3 - 32 6190 c.5219T>C c.(5218-5220)aTa>aCa p.I1740T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1740 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACATAGTCTATCGATAGACC 0.343000 TSP Lung(27;0.18) 7 58 0 0 0.047766 0 0 HIF3A 64344 broad.mit.edu 37 19 46815462 46815462 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:46815462G>C ENST00000339613.2 + 7 902 c.647G>C c.(646-648)tGt>tCt p.C216S HIF3A_ENST00000472815.1_Missense_Mutation_p.C203S|HIF3A_ENST00000300862.3_Missense_Mutation_p.C270S|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Missense_Mutation_p.C203S|HIF3A_ENST00000244303.6_Missense_Mutation_p.C203S|HIF3A_ENST00000420102.2_Missense_Mutation_p.C221S|HIF3A_ENST00000377670.4_Missense_Mutation_p.C272S Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CTGATCGGCTGTTCCGCCTAC 0.602000 57 98 0 0 0.048971 0 0 TSEN34 79042 broad.mit.edu 37 19 54695621 54695621 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:54695621G>A ENST00000396383.1 + 3 604 c.293G>A c.(292-294)aGc>aAc p.S98N TSEN34_ENST00000302937.4_Missense_Mutation_p.S98N|TSEN34_ENST00000429671.2_Missense_Mutation_p.S98N|TSEN34_ENST00000396388.2_Missense_Mutation_p.S98N Q9BSV6 SEN34_HUMAN TSEN34 tRNA splicing endonuclease subunit 98 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAGGAGCAGAGCGCCTTGGCA 0.582000 25 72 0 0 0.024334 0 0 GRM3 2913 broad.mit.edu 37 7 86479718 86479718 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:86479718C>T ENST00000394720.2 + 4 1528 c.1351C>T c.(1351-1353)Cct>Tct p.P451S GRM3_ENST00000546348.1_Silent_p.S400S|GRM3_ENST00000361669.2_Silent_p.S808S|GRM3_ENST00000439827.1_Missense_Mutation_p.P453S|GRM3_ENST00000536043.1_Silent_p.S680S Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 0 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCTCTGTCAGCCTGAGTGGCT 0.488000 17 30 0 0 0.043863 0 0 SGSM3 27352 broad.mit.edu 37 22 40800432 40800432 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr22:40800432C>T ENST00000248929.9 + 5 528 c.339C>T c.(337-339)gcC>gcT p.A113A SGSM3_ENST00000454798.2_Silent_p.A46A NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 113 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 TGGTGCTGGCCGGCATCCCAC 0.607000 23 12 0 0 0.018920 0 0 SEMA5A 9037 broad.mit.edu 37 5 9190523 9190523 + Missense_Mutation SNP G G C rs147170997 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:9190523G>C ENST00000382496.5 - 11 1794 c.1129C>G c.(1129-1131)Cag>Gag p.Q377E NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 377 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATGAACTTCTGAGCATCCTGC 0.577000 23 33 0 0 0.016522 0 0 ZNF398 57541 broad.mit.edu 37 7 148851047 148851047 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:148851047G>T ENST00000475153.1 + 2 302 c.35G>T c.(34-36)tGg>tTg p.W12L ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W17L|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR Q8TD17 ZN398_HUMAN zinc finger protein 398 12 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) ACATCTGAATGGGACTCCGAG 0.493000 21 88 2.98393e-07 3.35543e-07 0.016522 1 0 C12orf40 283461 broad.mit.edu 37 12 40076610 40076610 + Missense_Mutation SNP A A C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:40076610A>C ENST00000324616.5 + 8 1038 c.884A>C c.(883-885)aAt>aCt p.N295T C12orf40_ENST00000398716.1_Missense_Mutation_p.N218T|C12orf40_ENST00000405531.3_Missense_Mutation_p.N295T NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 295 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 CTATCAGAGAATTGTGACTCT 0.318000 34 81 0 0 0.045705 0 0 ARID1A 8289 broad.mit.edu 37 1 27100151 27100151 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:27100151C>A ENST00000324856.7 + 16 4318 c.3947C>A c.(3946-3948)tCg>tAg p.S1316* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S933*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1316* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1316 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AACCCAGACTCGGGGATGTAT 0.587000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 41 38 9.39024e-22 1.27018e-21 0.036044 1 0 UNC79 57578 broad.mit.edu 37 14 94088414 94088414 + Nonsense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:94088414C>G ENST00000553484.1 + 31 5055 c.4901C>G c.(4900-4902)tCa>tGa p.S1634* UNC79_ENST00000256339.4_Nonsense_Mutation_p.S1435*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.S1612*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.S1612* Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1612 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GATCTATCCTCAGATTCAACC 0.468000 36 97 0 0 0.054565 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502529 90502529 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr9:90502529C>T ENST00000325643.5 + 4 3193 c.3127C>T c.(3127-3129)Cca>Tca p.P1043S NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GGAGAAGCCCCCAACTTGGGA 0.602000 9 60 0 0 0.006214 0 0 BRIP1 83990 broad.mit.edu 37 17 59763514 59763514 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:59763514C>A ENST00000259008.2 - 19 2855 c.2588G>T c.(2587-2589)tGg>tTg p.W863L BRIP1_ENST00000577598.1_Missense_Mutation_p.W863L NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 863 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CTGCCGTACCCATTTAGAAAG 0.348000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 6 80 3.86212e-05 4.09619e-05 0.008291 1 0 ATP2B3 492 broad.mit.edu 37 X 152807330 152807330 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:152807330C>A ENST00000370186.1 + 4 936 c.610C>A c.(610-612)Ctc>Atc p.L204I ATP2B3_ENST00000349466.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L204I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L204I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L204I Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 204 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGGCAGCTCCTCCAGGTCCC 0.622000 61 27 3.07184e-27 4.23702e-27 0.048971 1 0 GFRA1 2674 broad.mit.edu 37 10 118029071 118029071 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:118029071T>A ENST00000439649.3 - 4 729 c.362A>T c.(361-363)tAt>tTt p.Y121F GFRA1_ENST00000355422.6_Missense_Mutation_p.Y121F|GFRA1_ENST00000369236.1_Missense_Mutation_p.Y121F NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 121 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) AACTGGTTCATATGGGGAATC 0.403000 8 49 0 0 0.047766 0 0 HUWE1 10075 broad.mit.edu 37 X 53672318 53672318 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:53672318C>G ENST00000342160.3 - 6 906 c.449G>C c.(448-450)cGt>cCt p.R150P HUWE1_ENST00000262854.6_Missense_Mutation_p.R150P|HUWE1_ENST00000218328.8_Missense_Mutation_p.R150P Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 150 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGATCCCAGACGAGTGATGTA 0.458000 16 14 0 0 0.028581 0 0 BRD8 10902 broad.mit.edu 37 5 137476488 137476488 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:137476488A>G ENST00000254900.5 - 26 3892 c.3521T>C c.(3520-3522)cTg>cCg p.L1174P NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1174 Bromo 2. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTGGAACATCAGCATCAGGTC 0.483000 60 255 0 0 0.048971 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100441774 100441774 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:100441774C>A ENST00000279907.7 - 18 4131 c.3919G>T c.(3919-3921)Gca>Tca p.A1307S UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A957S NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1307 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 ATTACTGTTGCAACAGTTTCA 0.279000 11 15 1.58986e-06 1.75261e-06 0.008291 1 0 USP17L2 377630 broad.mit.edu 37 8 11994697 11994697 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:11994697C>A ENST00000333796.3 - 1 1889 c.1573G>T c.(1573-1575)Gct>Tct p.A525S FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 525 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 ACAAGCAGAGCCCTCTTGCTG 0.577000 12 42 1.05317e-09 1.26561e-09 0.020292 1 0 CFH 3075 broad.mit.edu 37 1 196643062 196643062 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:196643062G>T ENST00000367429.4 + 3 560 c.320G>T c.(319-321)gGt>gTt p.G107V CFH_ENST00000439155.2_Missense_Mutation_p.G107V|CFH_ENST00000359637.2_Missense_Mutation_p.G107V NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 107 Sushi 2. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTTGAATATGGTGTAAAAGCT 0.333000 20 127 1.22574e-08 1.42409e-08 0.014323 1 0 OR52N5 390075 broad.mit.edu 37 11 5799295 5799295 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:5799295G>A ENST00000317093.2 - 1 602 c.570C>T c.(568-570)caC>caT p.H190H TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CTACAGACATGTGGTCGCAGT 0.423000 4 65 0 0 0.009096 0 0 MMEL1 79258 broad.mit.edu 37 1 2540804 2540804 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:2540804G>A ENST00000288709.6 - 6 722 c.482C>T c.(481-483)aCg>aTg p.T161M MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.T170M NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 170 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GCGGTACAGCGTCCTGGCCTT 0.687000 6 5 0 0 0.038147 0 0 TSIX 9383 broad.mit.edu 37 X 73041212 73041212 + RNA SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chrX:73041212A>T ENST00000604411.1 + 0 29173 XIST_ENST00000429829.1_lincRNA NR_003255.2 TTTGAAGCATATTTTGGCTTC 0.333000 7 4 0 0 0.038147 0 0 FBXL13 222235 broad.mit.edu 37 7 102604000 102604000 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:102604000G>T ENST00000393772.2 - 8 1130 c.704C>A c.(703-705)cCc>cAc p.P235H FBXL13_ENST00000456695.1_Missense_Mutation_p.P235H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P235H|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P235H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P235H|FBXL13_ENST00000379305.3_Missense_Mutation_p.P235H|FBXL13_ENST00000313221.4_Missense_Mutation_p.P235H Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 235 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GAAAGTTTTGGGTCGGAGAAG 0.328000 20 55 3.62473e-10 4.39361e-10 0.012319 1 0 DOCK1 1793 broad.mit.edu 37 10 129183096 129183096 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:129183096G>C ENST00000280333.6 + 38 3896 c.3787G>C c.(3787-3789)Ggg>Cgg p.G1263R NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1263 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCAGCGGGACGGGTACCAGGC 0.562000 13 71 0 0 0.020292 0 0 OR10A7 121364 broad.mit.edu 37 12 55615024 55615024 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:55615024T>C ENST00000326258.1 + 1 216 c.216T>C c.(214-216)tgT>tgC p.C72C NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TTGAAGTATGTTTCACCTTGG 0.408000 50 171 0 0 0.048971 0 0 ESPL1 9700 broad.mit.edu 37 12 53676136 53676136 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:53676136A>T ENST00000257934.4 + 14 2799 c.2708A>T c.(2707-2709)cAg>cTg p.Q903L ESPL1_ENST00000552462.1_Missense_Mutation_p.Q903L NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 903 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CTGCGTGTCCAGGTCCTGCAG 0.577000 43 90 0 0 0.033182 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504953 151504953 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr4:151504953C>A ENST00000317605.4 + 1 1877 c.772C>A c.(772-774)Cgg>Agg p.R258R LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 258 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GAAGACTCTGCGGGACCGCCA 0.627000 31 23 2.4375e-19 3.25e-19 0.034045 1 0 LAMA5 3911 broad.mit.edu 37 20 60908211 60908211 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr20:60908211G>A ENST00000252999.3 - 26 3283 c.3217C>T c.(3217-3219)Cgg>Tgg p.R1073W NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1073 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGCAGGGCCGGGGCAGGCTG 0.701000 8 6 0 0 0.038147 0 0 ANKRD46 157567 broad.mit.edu 37 8 101541965 101541965 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr8:101541965C>T ENST00000520311.1 - 3 900 c.97G>A c.(97-99)Gaa>Aaa p.E33K ANKRD46_ENST00000520552.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519597.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519316.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000335659.3_Missense_Mutation_p.E33K NM_001270378.1 NP_001257307.1 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 33 integral to membrane kidney(1)|large_intestine(2)|lung(4) 7 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) AAGCCACTTTCCAAAAGCCGC 0.453000 14 90 0 0 0.020292 0 0 NSD1 64324 broad.mit.edu 37 5 176684042 176684042 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:176684042G>C ENST00000439151.2 + 13 4901 c.4856G>C c.(4855-4857)tGt>tCt p.C1619S NSD1_ENST00000354179.4_Missense_Mutation_p.C1350S|NSD1_ENST00000361032.4_Missense_Mutation_p.C1516S|NSD1_ENST00000347982.4_Missense_Mutation_p.C1350S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1619 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CATGAAGAGTGTGTCCAGAAG 0.468000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 39 50 0 0 0.027894 0 0 LRFN5 145581 broad.mit.edu 37 14 42361015 42361015 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:42361015A>G ENST00000298119.4 + 4 3137 c.1948A>G c.(1948-1950)Aag>Gag p.K650E LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 650 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GACTGGCACAAAGCCAAGTAC 0.478000 HNSCC(30;0.082) 12 26 0 0 0.010729 0 0 TFIP11 24144 broad.mit.edu 37 22 26894935 26894935 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr22:26894935T>A ENST00000407690.1 - 10 1619 c.1336A>T c.(1336-1338)Act>Tct p.T446S TFIP11_ENST00000405938.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407148.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407431.1_Missense_Mutation_p.T446S NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 446 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GTGCCATAAGTGCAGTCCTGA 0.557000 106 63 0 0 0.048971 0 0 ABCA12 26154 broad.mit.edu 37 2 215880315 215880315 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:215880315T>A ENST00000272895.7 - 15 2074 c.1855A>T c.(1855-1857)Aaa>Taa p.K619* ABCA12_ENST00000389661.4_Nonsense_Mutation_p.K301* NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 619 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAGAATTCTTTCATTGCATCT 0.403000 8 25 0 0 0.038147 0 0 OR5W2 390148 broad.mit.edu 37 11 55681277 55681277 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr11:55681277C>T ENST00000344514.1 - 1 781 c.782G>A c.(781-783)cGg>cAg p.R261Q NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261Q(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGAACTTGGCCGGAAATACAT 0.443000 6 69 0 0 0.021553 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 121 0 0 0.014758 0 0 MYH4 4622 broad.mit.edu 37 17 10362566 10362566 + Splice_Site SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:10362566A>T ENST00000255381.2 - 15 1698 c.e15+1 CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGTCATATGAACCTTCTCGAT 0.473000 15 51 0 0 0.024245 0 0 DENND4A 10260 broad.mit.edu 37 15 65959832 65959832 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr15:65959832T>C ENST00000443035.3 - 29 5408 c.5193A>G c.(5191-5193)ttA>ttG p.L1731L DENND4A_ENST00000431932.2_Silent_p.L1688L NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1688 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TCAATCCAGGTAAGTTACTGG 0.368000 9 47 0 0 0.008291 0 0 TRRAP 8295 broad.mit.edu 37 7 98609784 98609784 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:98609784G>T ENST00000359863.4 + 72 11595 c.11386G>T c.(11386-11388)Gcc>Tcc p.A3796S TRRAP_ENST00000355540.3_Missense_Mutation_p.A3767S|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3785S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3796 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCTCTCGGCCGCCGGGCAGCC 0.582000 16 23 1.99824e-07 2.25607e-07 0.033300 1 0 NSD1 64324 broad.mit.edu 37 5 176637776 176637776 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:176637776C>A ENST00000439151.2 + 5 2421 c.2376C>A c.(2374-2376)tgC>tgA p.C792* NSD1_ENST00000354179.4_Nonsense_Mutation_p.C523*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.C689*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.C523* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 792 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GTATAAAGTGCAAACACAAAG 0.428000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 11 38 0.000673444 0.000695809 0.008291 1 0 AMPD1 270 broad.mit.edu 37 1 115216688 115216688 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:115216688delA ENST00000369538.3 - 13 1950 c.1903delT c.(1903-1905)acfs p.Y635fs AMPD1_ENST00000520113.2_Frame_Shift_Del_p.Y639fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Y606fs NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 606 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AAAAACAAGTACTGTAGCACG 0.343 10 75 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 7 129 --- --- --- --- IL19 29949 broad.mit.edu 37 1 207010323 207010323 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:207010323delA ENST00000270218.6 + 4 1104 c.165delA c.(163-165)ccfs p.P55fs IL19_ENST00000340758.2_Frame_Shift_Del_p.P93fs NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 55 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) ACACCTTCCCAAATGTCACTA 0.418 24 176 --- --- --- --- RNF181 51255 broad.mit.edu 37 2 85824002 85824006 + Frame_Shift_Del DEL TGCCT TGCCT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:85824002_85824006delTGCCT ENST00000441634.1 + 3 314_318 c.275_279delTGCCT c.(274-279)afs p.MP92fs RNF181_ENST00000306368.4_Frame_Shift_Del_p.MP92fs Q9P0P0 RN181_HUMAN ring finger protein 181 92 ligase activity|zinc ion binding lung(1)|stomach(1) 2 GCCATTGAGATGCCTTGCCATCACC 0.532 15 194 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243704 233243716 + Frame_Shift_Del DEL TGGAACCGCGAGG TGGAACCGCGAGG - rs113323105 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:233243704_233243716delTGGAACCGCGAGG ENST00000392027.2 + 2 369_381 c.100_112delTGGAACCGCGAGG c.(100-114)cafs p.WNREA34fs NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 34 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CCCGGACTTCTGGAACCGCGAGGCAGCCGAGGC 0.634 11 96 --- --- --- --- CDH9 1007 broad.mit.edu 37 5 26988405 26988405 + Frame_Shift_Del DEL C C - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:26988405delC ENST00000231021.4 - 2 208 c.36delG c.(34-36)tgfs p.W12fs NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 12 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ACATATAGGTCCAGATGAATA 0.348 7 84 --- --- --- --- LIN28B 389421 broad.mit.edu 37 6 105474345 105474346 + Frame_Shift_Ins INS - - A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:105474345_105474346insA ENST00000345080.4 + 3 574_575 c.371_372insA c.(370-372)caafs p.Q124fs NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 124 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) AAAAGAAAACCAAAGGGAGATA 0.376 25 83 --- --- --- --- EPHA1 2041 broad.mit.edu 37 7 143095840 143095841 + Frame_Shift_Ins INS - - G rs143087087 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:143095840_143095841insG ENST00000275815.3 - 6 1275_1276 c.1189_1190insC c.(1189-1191)gggfs p.G397fs NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 397 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGTGAGCCCCCGGGCCCCCGGC 0.614 13 41 --- --- --- --- ITGA8 8516 broad.mit.edu 37 10 15646284 15646284 + Frame_Shift_Del DEL C C - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:15646284delC ENST00000378076.3 - 20 2394 c.2041delG c.(2041-2043)aafs p.E681fs NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 681 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TATGCTCCTTCCCCTTCATTT 0.358 12 36 --- --- --- --- ANKRD30A 91074 broad.mit.edu 37 10 37508037 37508037 + Frame_Shift_Del DEL T T - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:37508037delT ENST00000374660.1 + 40 3685 c.3586delT c.(3586-3588)ttfs p.F1196fs ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.F1077fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.F1077fs Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1165 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAATAAATACTTTGAGGACAT 0.333 24 96 --- --- --- --- FAM213A 84293 broad.mit.edu 37 10 82187100 82187100 + Frame_Shift_Del DEL G G - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:82187100delG ENST00000372181.1 + 4 894 c.424delG c.(424-426)gtfs p.G142fs FAM213A_ENST00000372185.1_Frame_Shift_Del_p.G131fs|FAM213A_ENST00000372187.5_Frame_Shift_Del_p.G142fs|FAM213A_ENST00000372188.1_Frame_Shift_Del_p.G142fs NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 142 extracellular region AAAGTTCTATGGTCCACAAAG 0.493 36 116 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56490314 56490319 + In_Frame_Del DEL AAGGCT AAGGCT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:56490314_56490319delAAGGCT ENST00000267101.3 + 18 2523_2528 c.2083_2088delAAGGCT c.(2083-2088)del p.KA695del ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_In_Frame_Del_p.KA52del|ERBB3_ENST00000415288.2_In_Frame_Del_p.KA636del NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 695 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) CCCCAGTGAGAAGGCTAACAAAGTCT 0.510 48 163 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24788954 24788954 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:24788954delA ENST00000310677.4 - 22 2840 c.2727delT c.(2725-2727)ttfs p.F909fs ADCY4_ENST00000554068.2_Frame_Shift_Del_p.F909fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.F909fs NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 909 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TCACCTCATCAAAATCAGCAA 0.453 27 52 --- --- --- --- TMX1 81542 broad.mit.edu 37 14 51713848 51713858 + Frame_Shift_Del DEL GGACTAAGAAG GGACTAAGAAG - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:51713848_51713858delGGACTAAGAAG ENST00000457354.2 + 4 478_488 c.353_363delGGACTAAGAAG c.(352-363)afs p.RTKK118fs NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 118 Thioredoxin. anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 CAGGGTCCAAGGACTAAGAAGGACTTCATAA 0.351 8 95 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67289038 67289043 + In_Frame_Del DEL TCTTTA TCTTTA - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:67289038_67289043delTCTTTA ENST00000299798.11 + 3 670_675 c.605_610delTCTTTA c.(604-612)ctc>c p.LFI202del SLC9A5_ENST00000561472.2_3'UTR NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 202 L -> V (in Ref. 4; AAA87678). 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) AATGAGACTCTCTTTATCATCGTCTT 0.583 7 95 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20859932 20859933 + RNA INS - - T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:20859932_20859933insT ENST00000582583.1 + 0 622 RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000579168.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000437829.1_RNA|RP11-344E13.3_ENST00000584433.1_RNA TTTCTTCTGTCTTTTTTTTCCA 0.401 3 5 --- --- --- --- MYO19 80179 broad.mit.edu 37 17 34852240 34852241 + Frame_Shift_Del DEL TT TT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:34852240_34852241delTT ENST00000431794.3 - 26 3289_3290 c.2767_2768delAA c.(2767-2769)gfs p.K923fs MYO19_ENST00000268852.9_Frame_Shift_Del_p.K723fs|ZNHIT3_ENST00000592616.1_Intron|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000590858.1_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 923 Mitochondrial targeting. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCAGTGAAACTTTATCGATCCC 0.495 10 44 --- --- --- --- FSCN2 25794 broad.mit.edu 37 17 79503253 79503255 + In_Frame_Del DEL GAA GAA - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:79503253_79503255delGAA ENST00000417245.2 + 3 1201_1203 c.1065_1067delGAA c.(1063-1068)atg>at p.MK355del FSCN2_ENST00000334850.7_In_Frame_Del_p.MK355del NM_001077182.2|NM_012418.3 NP_001070650.1|NP_036550.1 O14926 FSCN2_HUMAN fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 355 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging endometrium(1)|lung(1)|prostate(1)|urinary_tract(1) 4 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) ACGTGTGCATGAAGAAGAATGGG 0.601 5 5 --- --- --- --- SMCHD1 23347 broad.mit.edu 37 18 2703849 2703852 + Frame_Shift_Del DEL GAAT GAAT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:2703849_2703852delGAAT ENST00000320876.6 + 13 2145_2148 c.1807_1810delGAAT c.(1807-1812)ggfs p.EW603fs SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.EW603fs|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 603 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TGCAGCAATAGAATGGGATGGAAA 0.319 12 83 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15271836 15271836 + Frame_Shift_Del DEL G G - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:15271836delG ENST00000263388.2 - 33 6678 c.6603delC c.(6601-6603)ccfs p.P2201fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 2201 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCGGGGAGACGGGGGTCCCTG 0.741 2 4 --- --- --- --- ZNF211 10520 broad.mit.edu 37 19 58152339 58152340 + Frame_Shift_Del DEL CT CT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:58152339_58152340delCT ENST00000544273.1 + 5 848_849 c.521_522delCT c.(520-522)cfs p.P174fs ZNF211_ENST00000391703.3_Frame_Shift_Del_p.P101fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.P166fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.P162fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.P227fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.P175fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.P153fs Q13398 ZN211_HUMAN zinc finger protein 211 162 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAGAGGCACCTTTCAGAAGTT 0.470 25 58 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194933 28194934 + In_Frame_Ins INS - - TGC rs34890218 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:28194933_28194934insTGC ENST00000302326.4 - 1 2552_2553 c.1598_1599insGCA c.(1597-1599)cca>cGCAca p.533_533P>RT NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 533 Poly-Gln. 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 gctgctgctgttgctgctgctg 0.653 T ETV6 """AML, meningioma""" 5 5 --- --- --- --- CHEK2 11200 broad.mit.edu 37 22 29095857 29095867 + Frame_Shift_Del DEL AGCTTGCAGGT AGCTTGCAGGT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:29095857_29095867delAGCTTGCAGGT ENST00000544772.1 - 10 1740_1750 c.304_314delACCTGCAAGCT c.(304-315)cfs p.TCKL102fs CHEK2_ENST00000348295.3_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382580.2_Frame_Shift_Del_p.TCKL366fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 323 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 GTAAAAATAGAGCTTGCAGGTAGCTTCTTTC 0.464 F breast Direct reversal of damage;Other conserved DNA damage response genes 48 124 --- --- --- --- AMPD1 270 broad.mit.edu 37 1 115216688 115216688 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:115216688delA ENST00000369538.3 - 13 1950 c.1903delT c.(1903-1905)acfs p.Y635fs AMPD1_ENST00000520113.2_Frame_Shift_Del_p.Y639fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Y606fs NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 606 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AAAAACAAGTACTGTAGCACG 0.343 10 75 --- --- --- --- IL19 29949 broad.mit.edu 37 1 207010323 207010323 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr1:207010323delA ENST00000270218.6 + 4 1104 c.165delA c.(163-165)ccfs p.P55fs IL19_ENST00000340758.2_Frame_Shift_Del_p.P93fs NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 55 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) ACACCTTCCCAAATGTCACTA 0.418 24 176 --- --- --- --- RNF181 51255 broad.mit.edu 37 2 85824002 85824006 + Frame_Shift_Del DEL TGCCT TGCCT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:85824002_85824006delTGCCT ENST00000441634.1 + 3 314_318 c.275_279delTGCCT c.(274-279)afs p.MP92fs RNF181_ENST00000306368.4_Frame_Shift_Del_p.MP92fs Q9P0P0 RN181_HUMAN ring finger protein 181 92 ligase activity|zinc ion binding lung(1)|stomach(1) 2 GCCATTGAGATGCCTTGCCATCACC 0.532 15 194 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243704 233243716 + Frame_Shift_Del DEL TGGAACCGCGAGG TGGAACCGCGAGG - rs113323105 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr2:233243704_233243716delTGGAACCGCGAGG ENST00000392027.2 + 2 369_381 c.100_112delTGGAACCGCGAGG c.(100-114)cafs p.WNREA34fs NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 34 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CCCGGACTTCTGGAACCGCGAGGCAGCCGAGGC 0.634 11 96 --- --- --- --- CDH9 1007 broad.mit.edu 37 5 26988405 26988405 + Frame_Shift_Del DEL C C - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr5:26988405delC ENST00000231021.4 - 2 208 c.36delG c.(34-36)tgfs p.W12fs NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 12 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ACATATAGGTCCAGATGAATA 0.348 7 84 --- --- --- --- LIN28B 389421 broad.mit.edu 37 6 105474345 105474346 + Frame_Shift_Ins INS - - A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr6:105474345_105474346insA ENST00000345080.4 + 3 574_575 c.371_372insA c.(370-372)caafs p.Q124fs NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 124 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) AAAAGAAAACCAAAGGGAGATA 0.376 25 83 --- --- --- --- EPHA1 2041 broad.mit.edu 37 7 143095840 143095841 + Frame_Shift_Ins INS - - G rs143087087 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr7:143095840_143095841insG ENST00000275815.3 - 6 1275_1276 c.1189_1190insC c.(1189-1191)gggfs p.G397fs NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 397 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGTGAGCCCCCGGGCCCCCGGC 0.614 13 41 --- --- --- --- ITGA8 8516 broad.mit.edu 37 10 15646284 15646284 + Frame_Shift_Del DEL C C - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:15646284delC ENST00000378076.3 - 20 2394 c.2041delG c.(2041-2043)aafs p.E681fs NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 681 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TATGCTCCTTCCCCTTCATTT 0.358 12 36 --- --- --- --- ANKRD30A 91074 broad.mit.edu 37 10 37508037 37508037 + Frame_Shift_Del DEL T T - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:37508037delT ENST00000374660.1 + 40 3685 c.3586delT c.(3586-3588)ttfs p.F1196fs ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.F1077fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.F1077fs Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1165 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAATAAATACTTTGAGGACAT 0.333 24 96 --- --- --- --- FAM213A 84293 broad.mit.edu 37 10 82187100 82187100 + Frame_Shift_Del DEL G G - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr10:82187100delG ENST00000372181.1 + 4 894 c.424delG c.(424-426)gtfs p.G142fs FAM213A_ENST00000372188.1_Frame_Shift_Del_p.G142fs|FAM213A_ENST00000372185.1_Frame_Shift_Del_p.G131fs|FAM213A_ENST00000372187.5_Frame_Shift_Del_p.G142fs NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 142 extracellular region AAAGTTCTATGGTCCACAAAG 0.493 36 116 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56490314 56490319 + In_Frame_Del DEL AAGGCT AAGGCT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr12:56490314_56490319delAAGGCT ENST00000267101.3 + 18 2523_2528 c.2083_2088delAAGGCT c.(2083-2088)del p.KA695del ERBB3_ENST00000415288.2_In_Frame_Del_p.KA636del|ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_In_Frame_Del_p.KA52del NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 695 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) CCCCAGTGAGAAGGCTAACAAAGTCT 0.510 48 163 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24788954 24788954 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:24788954delA ENST00000310677.4 - 22 2840 c.2727delT c.(2725-2727)ttfs p.F909fs ADCY4_ENST00000554068.2_Frame_Shift_Del_p.F909fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.F909fs NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 909 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TCACCTCATCAAAATCAGCAA 0.453 27 52 --- --- --- --- TMX1 81542 broad.mit.edu 37 14 51713848 51713858 + Frame_Shift_Del DEL GGACTAAGAAG GGACTAAGAAG - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr14:51713848_51713858delGGACTAAGAAG ENST00000457354.2 + 4 478_488 c.353_363delGGACTAAGAAG c.(352-363)afs p.RTKK118fs NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 118 Thioredoxin. anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 CAGGGTCCAAGGACTAAGAAGGACTTCATAA 0.351 8 95 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67289038 67289043 + In_Frame_Del DEL TCTTTA TCTTTA - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr16:67289038_67289043delTCTTTA ENST00000299798.11 + 3 670_675 c.605_610delTCTTTA c.(604-612)ctc>c p.LFI202del SLC9A5_ENST00000561472.2_3'UTR NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 202 L -> V (in Ref. 4; AAA87678). 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) AATGAGACTCTCTTTATCATCGTCTT 0.583 7 95 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20859932 20859933 + RNA INS - - T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:20859932_20859933insT ENST00000582583.1 + 0 622 RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000584433.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000437829.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000579168.2_RNA|RP11-344E13.3_ENST00000581958.1_RNA TTTCTTCTGTCTTTTTTTTCCA 0.401 3 5 --- --- --- --- MYO19 80179 broad.mit.edu 37 17 34852240 34852241 + Frame_Shift_Del DEL TT TT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:34852240_34852241delTT ENST00000431794.3 - 26 3289_3290 c.2767_2768delAA c.(2767-2769)gfs p.K923fs ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000592616.1_Intron|MYO19_ENST00000268852.9_Frame_Shift_Del_p.K723fs NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 923 Mitochondrial targeting. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCAGTGAAACTTTATCGATCCC 0.495 10 44 --- --- --- --- FSCN2 25794 broad.mit.edu 37 17 79503253 79503255 + In_Frame_Del DEL GAA GAA - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr17:79503253_79503255delGAA ENST00000417245.2 + 3 1201_1203 c.1065_1067delGAA c.(1063-1068)atg>at p.MK355del FSCN2_ENST00000334850.7_In_Frame_Del_p.MK355del NM_001077182.2|NM_012418.3 NP_001070650.1|NP_036550.1 O14926 FSCN2_HUMAN fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 355 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging endometrium(1)|lung(1)|prostate(1)|urinary_tract(1) 4 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) ACGTGTGCATGAAGAAGAATGGG 0.601 5 5 --- --- --- --- SMCHD1 23347 broad.mit.edu 37 18 2703849 2703852 + Frame_Shift_Del DEL GAAT GAAT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr18:2703849_2703852delGAAT ENST00000320876.6 + 13 2145_2148 c.1807_1810delGAAT c.(1807-1812)ggfs p.EW603fs SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.EW603fs|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 603 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TGCAGCAATAGAATGGGATGGAAA 0.319 12 83 --- --- --- --- ZNF211 10520 broad.mit.edu 37 19 58152339 58152340 + Frame_Shift_Del DEL CT CT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr19:58152339_58152340delCT ENST00000544273.1 + 5 848_849 c.521_522delCT c.(520-522)cfs p.P174fs ZNF211_ENST00000541801.1_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.P166fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.P227fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.P101fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.P162fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.P175fs Q13398 ZN211_HUMAN zinc finger protein 211 162 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAGAGGCACCTTTCAGAAGTT 0.470 25 58 --- --- --- --- CHEK2 11200 broad.mit.edu 37 22 29095857 29095867 + Frame_Shift_Del DEL AGCTTGCAGGT AGCTTGCAGGT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 901c2ed5-8348-4dd9-a84c-6c0b18d6525e e55ecf9c-0059-48ac-ba84-6879a8ec7311 g.chr22:29095857_29095867delAGCTTGCAGGT ENST00000544772.1 - 10 1740_1750 c.304_314delACCTGCAAGCT c.(304-315)cfs p.TCKL102fs CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000348295.3_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000382580.2_Frame_Shift_Del_p.TCKL366fs NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 323 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 GTAAAAATAGAGCTTGCAGGTAGCTTCTTTC 0.464 F breast Direct reversal of damage;Other conserved DNA damage response genes 48 124 --- --- --- ---