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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MED24 9862 broad.mit.edu 37 17 38188975 38188975 + Missense_Mutation SNP G C C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:38188975G>C uc002hts.3 - 7 1138 c.938C>G c.(937-939)gCt>gGt p.A313G MED24_uc010wes.2_Missense_Mutation_p.A148G|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Missense_Mutation_p.A288G|MED24_uc002htu.3_Missense_Mutation_p.A275G|MED24_uc010cwn.3_Missense_Mutation_p.A275G|MED24_uc010weu.2_Missense_Mutation_p.A198G|MED24_uc010wev.1_Missense_Mutation_p.A238G|MED24_uc010wew.1_Missense_Mutation_p.A217G|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Missense_Mutation_p.A129G|MED24_uc010wfa.1_Missense_Mutation_p.A257G|MED24_uc010wfb.1_Missense_Mutation_p.A300G NM_014815 NP_055630 O75448 MED24_HUMAN Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA. 288 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) CACGAAGCAAGCTTTCCAGAT 0.577000 63 30 0 0 0.003755 0 0 SLFN5 162394 broad.mit.edu 37 17 33586549 33586549 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:33586549C>T uc002hjf.4 + 1 957 c.840C>T c.(838-840)ttC>ttT p.F280F SLFN5_uc002hje.3_Silent_p.F280F|SLFN5_uc010wcg.2_Silent_p.F280F NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN Homo sapiens schlafen family member 5 (SLFN5), mRNA. 280 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TCCTTAACTTCCTTGAAGTGC 0.473000 98 47 0 0 0.003610 0 0 OR51E2 81285 broad.mit.edu 37 11 4703846 4703846 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:4703846G>A uc001lzk.2 - 1 340 c.96C>T c.(94-96)tcC>tcT p.S32S OR51E2_uc021qcr.1_Silent_p.S32S NM_030774 NP_110401 Q9H255 O51E2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CTACATACATGGAAAGGAGGG 0.498000 37 21 0 0 0.012319 0 0 CTNND2 1501 broad.mit.edu 37 5 11565169 11565169 + Splice_Site SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:11565169C>T uc003jfa.1 - 3 320 c.175_splice c.e3-1 p.E59_splice CTNND2_uc010itt.2_Splice_Site|CTNND2_uc011cmy.1_Splice_Site|CTNND2_uc011cmz.1_Splice_Site|CTNND2_uc010itu.1_Splice_Site NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 59 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 ACTGTAATTCCTGAAAGAAAC 0.473000 21 10 0 0 0.008291 0 0 HBD 3045 broad.mit.edu 37 11 5255401 5255401 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:5255401G>A uc001maf.1 - 1 330 c.135C>T c.(133-135)tcC>tcT p.S45S NM_000519 NP_000510 P02042 HBD_HUMAN Homo sapiens hemoglobin, delta (HBD), mRNA. 45 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCCCCAAAGGACTCAAAGA 0.527000 62 28 0 0 0.008361 0 0 PRAM1 84106 broad.mit.edu 37 19 8564455 8564455 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8564455G>A uc002mkd.3 - 1 300 c.237C>T c.(235-237)ctC>ctT p.L79L NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 127 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GCTTCTTGGGGAGGTCAGTGA 0.667000 158 9 0 0 0.007835 0 0 ZMYM3 9203 broad.mit.edu 37 X 70468049 70468049 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:70468049G>A uc004dzh.2 - 10 2117 c.1938C>T c.(1936-1938)ctC>ctT p.L646L BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.L646L|ZMYM3_uc004dzj.2_Silent_p.L646L NM_201599 NP_963893 Q14202 ZMYM3_HUMAN Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA. 646 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CGCTGAATCGGAGTTTCTCAT 0.547000 20 6 0 0 0.001984 0 0 TRIM9 114088 broad.mit.edu 37 14 51464813 51464813 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:51464813C>T uc001wyx.4 - 6 2323 c.1558G>A c.(1558-1560)Gga>Aga p.G520R TRIM9_uc001wyy.2_Missense_Mutation_p.G516R|TRIM9_uc001wyz.4_Missense_Mutation_p.G520R NM_015163 NP_055978 Q9C026 TRIM9_HUMAN Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA. 520 Fibronectin type-III. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) GGGCTGACTCCTGTTTTGTTG 0.537000 21 20 0 0 0.008871 0 0 ADH1C 126 broad.mit.edu 37 4 100261813 100261813 + RNA SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:100261813C>T uc021xqi.1 - 6 c.968G>A NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TCAGGAGGTACCCCTACAATG 0.458000 131 69 0 0 0.003610 0 0 BMP3 651 broad.mit.edu 37 4 81967316 81967316 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:81967316C>T uc003hmg.4 + 1 1061 c.741C>T c.(739-741)gcC>gcT p.A247A NM_001201 NP_001192 P12645 BMP3_HUMAN Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA. 247 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.A247S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 CCAATGATGCCGCCATTTCTG 0.483000 72 43 0 0 0.008740 0 0 CELSR3 1951 broad.mit.edu 37 3 48677265 48677265 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:48677265G>A uc003cuf.1 - 35 10047 c.10047C>T c.(10045-10047)gcC>gcT p.A3349A CELSR3_uc010hkf.3_Silent_p.A541A|CELSR3_uc010hkg.3_Silent_p.A1234A|CELSR3_uc003cul.3_Silent_p.A3251A NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 3251 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGTTGAAAGAGGCAAGGATGG 0.607000 97 44 0 0 0.007835 0 0 CACNA1C 775 broad.mit.edu 37 12 2224481 2224481 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:2224481G>A uc009zdu.1 + 1 454 c.141G>A c.(139-141)ggG>ggA p.G47G CACNA1C_uc001qkc.2_Silent_p.G47G|CACNA1C_uc001qjz.2_Silent_p.G47G|CACNA1C_uc001qkd.2_Silent_p.G47G|CACNA1C_uc001qke.2_Silent_p.G47G|CACNA1C_uc001qkf.2_Silent_p.G47G|CACNA1C_uc009zdw.1_Silent_p.G47G|CACNA1C_uc001qkg.2_Silent_p.G47G|CACNA1C_uc001qkh.2_Silent_p.G47G|CACNA1C_uc001qkl.2_Silent_p.G47G|CACNA1C_uc001qkj.2_Silent_p.G47G|CACNA1C_uc001qkk.2_Silent_p.G47G|CACNA1C_uc001qkn.2_Silent_p.G47G|CACNA1C_uc001qkm.2_Silent_p.G47G|CACNA1C_uc001qko.2_Silent_p.G47G|CACNA1C_uc001qkp.2_Silent_p.G47G|CACNA1C_uc001qkq.2_Silent_p.G47G|CACNA1C_uc001qku.2_Silent_p.G47G|CACNA1C_uc001qkr.2_Silent_p.G47G|CACNA1C_uc001qks.2_Silent_p.G47G|CACNA1C_uc001qkt.2_Silent_p.G47G|CACNA1C_uc009zdv.1_Silent_p.G47G|CACNA1C_uc001qkb.2_Silent_p.G47G NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 47 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCACCCCGGGGGCTGCCCTGT 0.677000 7 5 0 0 0.000602 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103566849 103566849 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:103566849G>A uc001ymk.3 + 0 369 c.293G>A c.(292-294)gGc>gAc p.G98D NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA. 98 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CCAGCTACCGGCCATTCCCAG 0.632000 28 3 0 0 0.009096 0 0 DKFZp686O16217 0 broad.mit.edu 37 14 106053600 106053600 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:106053600C>T uc001yrt.3 - 3 746 c.715G>A c.(715-717)Gtg>Atg p.V239M abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment; GTCAGCGTCACCAGCTCGTTC 0.667000 28 11 0 0 0.002450 0 0 PPT1 5538 broad.mit.edu 37 1 40539851 40539851 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:40539851C>T uc001cfb.2 - 8 1035 c.803G>A c.(802-804)cGc>cAc p.R268H PPT1_uc010ojf.1_Missense_Mutation_p.R194H|PPT1_uc010ojg.1_Missense_Mutation_p.R165H|PPT1_uc009vwa.2_Non-coding_Transcript NM_000310 NP_000301 P50897 PPT1_HUMAN Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA. 268 DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TAGCCCCAGGCGGTCCTGCAG 0.403000 60 4 0 0 0.001168 0 0 ERC2 26059 broad.mit.edu 37 3 56173549 56173549 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:56173549G>A uc021wzo.1 - 4 1601 c.1461C>T c.(1459-1461)atC>atT p.I487I ERC2_uc003dhr.1_Silent_p.I487I NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 487 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CAGTCTGAAGGATGGCAGCCC 0.433000 30 14 0 0 0.004990 0 0 COL15A1 1306 broad.mit.edu 37 9 101817395 101817395 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:101817395G>A uc004azb.1 + 32 3249 c.3043G>A c.(3043-3045)Gat>Aat p.D1015N NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 1015 Nonhelical region 7 (NC7). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCCTCCACTTGATCTAGCTTA 0.353000 38 60 0 0 0.003610 0 0 TTC21A 199223 broad.mit.edu 37 3 39151626 39151626 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:39151626C>T uc003cjc.2 + 2 441 c.264C>T c.(262-264)atC>atT p.I88I GORASP1_uc003civ.1_5'Flank|GORASP1_uc003ciw.1_5'Flank|GORASP1_uc003cix.1_5'Flank|GORASP1_uc003ciy.1_5'Flank|GORASP1_uc011ayw.1_5'Flank|GORASP1_uc003ciz.1_5'Flank|TTC21A_uc003cja.3_Silent_p.I88I|TTC21A_uc010hho.2_Intron|TTC21A_uc003cjb.3_Intron|TTC21A_uc011ayx.1_Silent_p.I88I|TTC21A_uc003cjd.2_Non-coding_Transcript NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 88 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GATGTGAAATCATTGGTGAGT 0.557000 30 19 0 0 0.007413 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814337 106814337 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:106814337C>T uc003ymd.3 + 7 2050 c.2027C>T c.(2026-2028)cCc>cTc p.P676L ZFPM2_uc011lhs.2_Missense_Mutation_p.P407L NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 676 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCAGTGTCCCCTTAGTGGAT 0.428000 17 19 0 0 0.007413 0 0 GCN1L1 10985 broad.mit.edu 37 12 120575810 120575810 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:120575810G>A uc001txo.3 - 47 6301 c.6288C>T c.(6286-6288)ttC>ttT p.F2096F NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 2096 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGACGAAAGGAAAGCCAGCA 0.577000 20 6 0 0 0.001168 0 0 XIRP1 165904 broad.mit.edu 37 3 39226215 39226215 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:39226215G>A uc003cjk.2 - 1 4951 c.4722C>T c.(4720-4722)ttC>ttT p.F1574F XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.F257F|XIRP1_uc021wvz.1_Silent_p.F1574F NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1574 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GAGGTCCCTGGAAATGGCCTC 0.587000 85 57 0 0 0.003610 0 0 RAD21 5885 broad.mit.edu 37 8 117866524 117866524 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:117866524G>A uc003yod.3 - 8 1409 c.1121C>T c.(1120-1122)tCt>tTt p.S374F NM_006265 NP_006256 O60216 RAD21_HUMAN Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA. 374 Interaction with STAG1.|Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) AGCAGGTAAAGAAAACAGTTT 0.348000 29 38 0 0 0.007835 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140724205 140724205 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:140724205G>A uc003ljm.2 + 0 605 c.605G>A c.(604-606)cGt>cAt p.R202H PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R202H NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 202 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R202H(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTGGACCGTGAGAAAAAA 0.537000 49 27 0 0 0.005443 0 0 RFX6 222546 broad.mit.edu 37 6 117250035 117250035 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:117250035C>T uc003pxm.3 + 17 2575 c.2512C>T c.(2512-2514)Cac>Tac p.H838Y NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 838 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CAGTGACATCCACGATCCACT 0.473000 52 29 0 0 0.005443 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872096 51872096 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:51872096C>T uc002xwo.3 + 1 2986 c.2099C>T c.(2098-2100)tCc>tTc p.S700F TSHZ2_uc021wex.1_Missense_Mutation_p.S697F NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 700 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GCCCTGCAGTCCGTCCTGAAC 0.612000 31 16 0 0 0.004007 0 0 CRISP3 10321 broad.mit.edu 37 6 49703299 49703299 + Nonsense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:49703299C>T uc021zai.1 - 3 352 c.264G>A c.(262-264)tgG>tgA p.W88* CRISP3_uc003ozs.3_Nonsense_Mutation_p.W78* NM_001190986 NP_001177915 P54108 CRIS3_HUMAN Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA. 65 innate immune response proteinaceous extracellular matrix|specific granule p.K88N(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CCTCTTTGTTCCATTCCTGAA 0.378000 57 37 0 0 0.006230 0 0 XPOT 11260 broad.mit.edu 37 12 64828325 64828325 + Nonsense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:64828325C>T uc001ssb.3 + 19 2997 c.2491C>T c.(2491-2493)Caa>Taa p.Q831* NM_007235 NP_009166 O43592 XPOT_HUMAN Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA. 831 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.Q831R(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TACTGTTATCCAAGGAGCAGT 0.353000 43 15 0 0 0.002450 0 0 MAGED1 9500 broad.mit.edu 37 X 51639952 51639952 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:51639952C>T uc004dpn.3 + 4 1559 c.1369C>T c.(1369-1371)Cct>Tct p.P457S MAGED1_uc004dpm.3_Missense_Mutation_p.P401S|MAGED1_uc004dpo.3_Missense_Mutation_p.P401S NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 401 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CTGGCAAGGTCCTCCTGACTG 0.647000 Multiple Myeloma(10;0.10) 13 5 0 0 0.000602 0 0 LRRC28 123355 broad.mit.edu 37 15 99874192 99874192 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:99874192C>T uc002bva.1 + 5 605 c.450C>T c.(448-450)ccC>ccT p.P150P LRRC28_uc010urs.1_Intron|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_Intron|LRRC28_uc002bvc.1_Silent_p.P150P|LRRC28_uc010uru.1_Intron|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA. 150 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) TAACTTTACCCGAGAGGCTTC 0.478000 48 29 0 0 0.006320 0 0 MUC16 94025 broad.mit.edu 37 19 8969339 8969339 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8969339G>A uc002mkp.3 - 78 43209 c.43005C>T c.(43003-43005)tcC>tcT p.S14335S MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S1135S|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14431 SEA 15. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTTGTCCTGGGAATATGGTA 0.473000 56 43 0 0 0.009718 0 0 LIFR 3977 broad.mit.edu 37 5 38482701 38482701 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:38482701C>T uc010ive.1 - 18 2992 c.2660G>A c.(2659-2661)aGt>aAt p.S887N LIFR_uc003jli.2_Missense_Mutation_p.S887N NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 887 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CTCACAGACACTCTTTTGAAA 0.259000 T PLAG1 salivary adenoma 38 13 0 0 0.004007 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564501 66564501 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:66564501G>A uc002lkk.2 + 7 1322 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K CCDC102B_uc002lki.2_Missense_Mutation_p.E367K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E367K NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 367 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GGACAAGAGGGAAATACTTGA 0.403000 67 32 0 0 0.003755 0 0 SCNN1D 6339 broad.mit.edu 37 1 1226673 1226673 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:1226673C>T uc001adt.1 + 17 2318 c.2092C>T c.(2092-2094)Ctg>Ttg p.L698L SCNN1D_uc001adu.1_Silent_p.L534L|SCNN1D_uc001adw.2_Silent_p.L600L|SCNN1D_uc001adv.2_Silent_p.L534L|SCNN1D_uc001adx.2_Silent_p.L323L NM_001130413 NP_001123885 Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA. lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CCTCTGCAGCCTGTGGTTTGG 0.726000 2 9 0 0 0.004482 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266137 41266137 + Missense_Mutation SNP C G G rs121913409 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:41266137C>G uc010hia.1 + 3 290 c.134C>G c.(133-135)tCt>tGt p.S45C CTNNB1_uc003ckq.2_Missense_Mutation_p.S45C|CTNNB1_uc003ckp.2_Missense_Mutation_p.S45C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45C|CTNNB1_uc011azf.1_Missense_Mutation_p.S38C|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 45 Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma). Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S45F(830)|p.S45P(194)|p.S45del(137)|p.A5_A80del(119)|p.S45Y(43)|p.S45C(42)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.S45A(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.P44A(9)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.S45_S47>C(4)|p.P44_S45del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.P44S(4)|p.P44L(3)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45fs*2(2)|p.S45E(2)|p.A21_A80del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.S45_G48del(2)|p.V22_L139>V(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.P16_K133del(2)|p.T40_L46del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.P44del(1)|p.A20_Q143del(1)|p.A43_E53del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.S45T(1)|p.V22_A97del(1)|p.S45S(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.P44_S45insAP(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.P44_S45insGATTTAP(1)|p.E9_I140del(1)|p.S45_E54del(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACAGCTCCTTCTCTGAGTGGT 0.498000 S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 26 15 0 0 0.002450 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819825 70819826 + Missense_Mutation DNP GG AA AA TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:70819825_70819826GG>AA uc001dex.4 - 0 592_593 c.266_267CC>TT c.(265-267)tcc>tTT p.S89F ANKRD13C_uc009wbk.3_Missense_Mutation_p.S89F|ANKRD13C_uc001dey.4_Missense_Mutation_p.S89F|HHLA3_uc010oqp.2_5'Flank|HHLA3_uc001dfb.3_5'Flank|HHLA3_uc001dfa.3_5'Flank|HHLA3_uc001dfc.3_5'Flank NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA. 89 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 CCGGGGACTGGGAGTTGGCAGT 0.673000 92 48 0 0 0.004672 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559405 44559405 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:44559405C>T uc002lcr.1 - 0 2584 c.2231G>A c.(2230-2232)cGa>cAa p.R744Q KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron|TCEB3C_uc010xdb.2_5'Flank NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 744 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 CTTGTAGTCTCGAATTGCCTT 0.557000 106 51 0 0 0.003610 0 0 C6 729 broad.mit.edu 37 5 41160458 41160458 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:41160458G>A uc003jmk.2 - 10 1680 c.1470C>T c.(1468-1470)atC>atT p.I490I C6_uc003jml.1_Silent_p.I490I NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 490 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCAAGTCCACGATGGGGGCAA 0.498000 43 16 0 0 0.003163 0 0 APOB 338 broad.mit.edu 37 2 21232960 21232960 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:21232960G>A uc002red.3 - 25 6908 c.6780C>T c.(6778-6780)atC>atT p.I2260I NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2260 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTGTATCTGGATTCTGATTT 0.343000 142 223 0 0 0.003610 0 0 LOC650368 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:3427845C>T uc010qxs.1 + 8 c.838C>T LOC650368_uc001lxy.2_Non-coding_Transcript Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA. CTTCAAGTGGCAGGAGCAGAA 0.587000 46 5 0 0 0.000602 0 0 TPRG1L 127262 broad.mit.edu 37 1 3542430 3542430 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:3542430G>A uc001akm.3 + 2 528 c.447G>A c.(445-447)caG>caA p.Q149Q TPRG1L_uc009vlj.3_Intron NM_182752 NP_877429 Q5T0D9 TPRGL_HUMAN Homo sapiens tumor protein p63 regulated 1-like (TPRG1L), mRNA. 149 cell junction|synaptic vesicle endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) GAGAATTCCAGTTTCCCCCTA 0.488000 12 19 0 0 0.006122 0 0 KIAA1109 84162 broad.mit.edu 37 4 123249418 123249418 + Missense_Mutation SNP G C C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:123249418G>C uc003ieh.3 + 63 11200 c.11155G>C c.(11155-11157)Gat>Cat p.D3719H KIAA1109_uc003iem.3_Missense_Mutation_p.D110H NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 3719 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GGGCCGACGGGATGACAGTTT 0.438000 51 31 0 0 0.003271 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715029 92715029 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:92715029G>A uc001pdk.1 + 1 743 c.640G>A c.(640-642)Gct>Act p.A214T NM_005959 NP_005950 P49286 MTR1B_HUMAN Homo sapiens melatonin receptor 1B (MTNR1B), mRNA. 214 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCTCCCTATCGCTGTCGTGTC 0.612000 133 111 0 0 0.003610 0 0 AMPD1 270 broad.mit.edu 37 1 115221019 115221019 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:115221019C>T uc001efe.2 - 7 1174 c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K AMPD1_uc001eff.2_Missense_Mutation_p.E372K NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 343 Substrate binding (By similarity). purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding p.N376N(1) 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) GCAAAAAGTTCCTTTAGGGTC 0.378000 44 24 0 0 0.003330 0 0 OR8D4 338662 broad.mit.edu 37 11 123777609 123777609 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:123777609G>A uc010saa.2 + 0 471 c.471G>A c.(469-471)gtG>gtA p.V157V NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA. 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A156T(1) large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CTGATGCTGTGATCCATGGAG 0.468000 89 61 0 0 0.003610 0 0 DSG2 1829 broad.mit.edu 37 18 29102174 29102174 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:29102174G>A uc002kwu.4 + 5 840 c.652G>A c.(652-654)Gga>Aga p.G218R NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 218 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TAAAGATACAGGAGAGATTTA 0.393000 32 19 0 0 0.010504 0 0 STX17 55014 broad.mit.edu 37 9 102730754 102730754 + Silent SNP T G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:102730754T>G uc004bal.4 + 7 844 c.708T>G c.(706-708)ggT>ggG p.G236G STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript NM_017919 NP_060389 P56962 STX17_HUMAN Homo sapiens syntaxin 17 (STX17), mRNA. 236 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CTGTGGCAGGTGCACTCATCG 0.488000 5 4 0 0 0.001855 0 0 CSMD2 114784 broad.mit.edu 37 1 34006741 34006741 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:34006741G>A uc001bxm.1 - 58 9623 c.9446C>T c.(9445-9447)cCc>cTc p.P3149L CSMD2_uc001bxn.1_Missense_Mutation_p.P3005L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3121 Sushi 25. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTTGCAGACGGGCTTGGTTCC 0.498000 37 38 0 0 0.011902 0 0 APC 324 broad.mit.edu 37 5 112174732 112174732 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:112174732C>T uc003kpz.4 + 16 3634 c.3441C>T c.(3439-3441)taC>taT p.Y1147Y APC_uc011cvt.2_Silent_p.Y1129Y|APC_uc003kpy.4_Silent_p.Y1147Y|APC_uc010jbz.3_Silent_p.Y864Y|APC_uc010jca.3_Silent_p.Y447Y NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1147 Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R1146fs*21(1)|p.N1142fs*5(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GTGAACGTTACTCTGAAGAAG 0.343000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 26 13 0 0 0.001855 0 0 ZNF676 163223 broad.mit.edu 37 19 22363885 22363885 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:22363885G>A uc002nqs.1 - 2 952 c.634C>T c.(634-636)Ctt>Ttt p.L212F NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 212 KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TGTTTAGTAAGGATTGAGAAC 0.353000 28 14 0 0 0.001855 0 0 SHANK1 50944 broad.mit.edu 37 19 51201136 51201136 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:51201136C>T uc002psx.1 - 11 1844 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 609 SH3. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GCCACTTCTTCCAGGCAGTCA 0.567000 23 12 0 0 0.002450 0 0 ARC 23237 broad.mit.edu 37 8 143695445 143695445 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:143695445C>T uc022bca.1 - 0 188 c.188G>A c.(187-189)gGg>gAg p.G63E ARC_uc003ywn.1_Missense_Mutation_p.G63E NM_015193 NP_056008 Q7LC44 ARC_HUMAN Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA. 63 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) CCGGTGCAGCCCCTTCAGCTC 0.682000 17 6 0 0 0.003080 0 0 PSG7 5676 broad.mit.edu 37 19 43439606 43439606 + Missense_Mutation SNP C T T rs146684607 by1000genomes TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:43439606C>T uc002ovl.4 - 2 479 c.377G>A c.(376-378)cGa>cAa p.R126Q PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 127 Ig-like V-type. female pregnancy extracellular region Prostate(69;0.00682) CCCATCACCTCGCTTTATGAT 0.493000 358 107 0 0 0.003610 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68956357 68956357 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:68956357C>T uc003hdt.1 - 2 215 c.166G>A c.(166-168)Gat>Aat p.D56N NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA. 56 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 AAAGACTTATCATCTGAAAGG 0.333000 37 21 0 0 0.003330 0 0 PTPRB 5787 broad.mit.edu 37 12 70954554 70954554 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:70954554C>T uc001swb.4 - 14 3705 c.3675G>A c.(3673-3675)acG>acA p.T1225T PTPRB_uc010sto.2_Silent_p.T1135T|PTPRB_uc010stp.2_Silent_p.T1135T|PTPRB_uc001swc.4_Silent_p.T1443T|PTPRB_uc001swa.4_Silent_p.T1355T|PTPRB_uc001swd.4_Silent_p.T1442T|PTPRB_uc009zrr.2_Silent_p.T1322T NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1225 Fibronectin type-III 14. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.T1225K(1)|p.L1224P(1) 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) ACCGCCACTCCGTCAGGTCCT 0.488000 30 11 0 0 0.001368 0 0 NAA25 80018 broad.mit.edu 37 12 112492209 112492209 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:112492209G>A uc001ttm.3 - 13 1669 c.1611C>T c.(1609-1611)atC>atT p.I537I NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.I509I|NAA25_uc009zwa.2_Silent_p.I537I NM_024953 NP_079229 Q14CX7 NAA25_HUMAN Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA. 537 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TATCATGCTGGATATGCTTAG 0.433000 42 17 0 0 0.004007 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 83420 83420 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrGL000209.1:83420C>T uc002qui.2 + 6 1063 c.1052C>T c.(1051-1053)cCt>cTt p.P351L KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.P348L|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Missense_Mutation_p.P256L|KIR2DL2_uc010evh.1_Missense_Mutation_p.P244L|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron NM_001083539 NP_001077008 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA. 256 regulation of immune response integral to membrane|plasma membrane receptor activity GTCAAAATCCCTTTCACCATC 0.488000 8 27 0 0 0.007291 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342294 60342294 + RNA SNP A C C rs76100965 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:60342294A>C uc010woz.2 - 13 c.1835T>G Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 TAAGTTTAACAAAAAATAAAA 0.483000 119 5 0 0 0.006214 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274114 10274114 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:10274114C>T uc010uym.2 - 2 465 c.155G>A c.(154-156)cGa>cAa p.R52Q GRIN2A_uc002czo.4_Missense_Mutation_p.R52Q|GRIN2A_uc002czr.4_Missense_Mutation_p.R52Q|GRIN2A_uc010buk.3_Missense_Mutation_p.R52Q NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 52 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R52*(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCACAGTGTTCGAAGTTCGCG 0.682000 82 36 0 0 0.008740 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671784 176671784 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:176671784C>T uc001gkz.3 + 8 4442 c.3278C>T c.(3277-3279)gCt>gTt p.A1093V PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1093 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L1092I(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAAGTTCTAGCTGAAGCTGGA 0.507000 44 21 0 0 0.012319 0 0 HERC2 8924 broad.mit.edu 37 15 28519439 28519439 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:28519439C>T uc001zbj.3 - 6 904 c.798G>A c.(796-798)acG>acA p.T266T HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 266 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAACTCACCCCGTCACGACGG 0.577000 16 9 0 0 0.006214 0 0 GPR123 84435 broad.mit.edu 37 10 134910573 134910573 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:134910573G>A uc001llw.3 + 11 2259 c.2259G>A c.(2257-2259)ctG>ctA p.L753L GPR123_uc001llx.4_Silent_p.L33L Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 33 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TCTGCCTCCTGGCCTCCTTCG 0.622000 26 25 0 0 0.003954 0 0 CNR1 1268 broad.mit.edu 37 6 88854925 88854925 + Silent SNP C T T rs144795421 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:88854925C>T uc010kbz.3 - 1 199 c.69G>A c.(67-69)gtG>gtA p.V23V CNR1_uc011dzr.2_Silent_p.V23V|CNR1_uc011dzs.2_Silent_p.V23V|CNR1_uc003pmq.4_Silent_p.V23V|CNR1_uc011dzt.2_Silent_p.V23V|CNR1_uc010kca.3_Intron|CNR1_uc021zco.1_Silent_p.V23V NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 23 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.V23M(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CATTTGAGCCCACGTACAGGA 0.463000 89 36 0 0 0.006230 0 0 LOC442459 442459 broad.mit.edu 37 X 98975143 98975143 + RNA SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:98975143C>T uc011mrd.1 - 7 c.1200G>A Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA. AAAGCTGGTTCATCAAACCAT 0.488000 13 5 0 0 0.001168 0 0 OR4C15 81309 broad.mit.edu 37 11 55321908 55321908 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:55321908G>A uc010rig.2 + 0 126 c.126G>A c.(124-126)atG>atA p.M42I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GACTATACATGATCCCTGTTG 0.373000 HNSCC(20;0.049) 74 45 0 0 0.003610 0 0 PTPRD 5789 broad.mit.edu 37 9 8486162 8486162 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:8486162G>A uc003zkk.3 - 27 3398 c.2655C>T c.(2653-2655)atC>atT p.I885I PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 885 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTCCCTTGTGGATGTCTGTAG 0.463000 TSP Lung(15;0.13) 18 20 0 0 0.012319 0 0 VPS41 27072 broad.mit.edu 37 7 38813801 38813801 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:38813801G>A uc003tgy.3 - 11 952 c.926C>T c.(925-927)cCa>cTa p.P309L VPS41_uc003tgz.3_Missense_Mutation_p.P284L|VPS41_uc010kxn.3_Missense_Mutation_p.P220L NM_014396 NP_055211 P49754 VPS41_HUMAN Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA. 309 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 CTCAGAAAGTGGCTGGATGAT 0.378000 121 79 0 0 0.003610 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41000789 41000789 + Missense_Mutation SNP C A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:41000789C>A uc003jmj.4 - 37 4831 c.4341G>T c.(4339-4341)aaG>aaT p.K1447N HEATR7B2_uc003jmi.4_Missense_Mutation_p.K1002N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1447 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 CAACTCCAATCTTGGGGTTGG 0.488000 13 9 1.12685e-05 1.14909e-05 0.004482 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43846162 43846162 + Missense_Mutation SNP T C C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:43846162T>C uc010skx.2 - 13 1994 c.1994A>G c.(1993-1995)tAt>tGt p.Y665C NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 665 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TAGGTAGAAATAATTGGTTCC 0.338000 34 22 0 0 0.012319 0 0 NWD1 284434 broad.mit.edu 37 19 16902356 16902356 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:16902356G>A uc002neu.4 + 13 3558 c.3136G>A c.(3136-3138)Gaa>Aaa p.E1046K NWD1_uc002net.4_Missense_Mutation_p.E911K|NWD1_uc002nev.4_Missense_Mutation_p.E840K|NWD1_uc021uqg.1_Missense_Mutation_p.E911K NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1046 ATP binding p.G1046R(1) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATCAAAGAAGAAACACCTAC 0.502000 44 32 0 0 0.002836 0 0 TBC1D21 161514 broad.mit.edu 37 15 74180077 74180077 + Splice_Site SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:74180077G>A uc002avz.3 + 9 977 c.894_splice c.e9+1 p.L298_splice TBC1D21_uc010ulc.2_Splice_Site_p.L262_splice NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA. 298 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 ACATCCTCCTGGTGAGAGCAC 0.652000 45 22 0 0 0.002299 0 0 KPRP 448834 broad.mit.edu 37 1 152732718 152732718 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:152732718C>T uc001fal.1 + 1 712 c.654C>T c.(652-654)ttC>ttT p.F218F KPRP_uc021ozf.1_Silent_p.F218F NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 218 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGCTGTTTCCCTCAGTATC 0.572000 103 52 0 0 0.003610 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727171 25727171 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:25727171C>T uc003nfd.3 + 0 35 c.35C>T c.(34-36)tCc>tTc p.S12F HIST1H2AA_uc003nfc.3_5'Flank NM_170610 NP_733759 Q96A08 H2B1A_HUMAN Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA. 12 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 GCTACCATTTCCAAGAAGGGC 0.453000 54 22 0 0 0.003954 0 0 HIP1 3092 broad.mit.edu 37 7 75178284 75178284 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:75178284C>T uc003uds.2 - 22 2356 c.2311G>A c.(2311-2313)Gga>Aga p.G771R HIP1_uc011kfz.2_Missense_Mutation_p.G771R NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 771 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ATGTCCAGTCCCCTGGGCAGG 0.562000 T PDGFRB CMML 93 46 0 0 0.009718 0 0 MECP2 4204 broad.mit.edu 37 X 153296630 153296630 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:153296630G>A uc004fjv.2 - 3 875 c.649C>T c.(649-651)Cct>Tct p.P217S MECP2_uc004fjw.2_Missense_Mutation_p.P229S NM_004992 NP_004983 P51608 MECP2_HUMAN Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA. 217 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCTTCCCAGGACTTTTCTCC 0.617000 174 103 0 0 0.003610 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280605 105280605 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:105280605C>T uc010npd.3 - 0 680 c.445G>A c.(445-447)Gat>Aat p.D149N SERPINA7_uc004eme.2_Missense_Mutation_p.D149N|SERPINA7_uc010npe.2_Missense_Mutation_p.D149N NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 149 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTTGACATCATTCAAGAAC 0.428000 139 69 0 0 0.003610 0 0 FBN3 84467 broad.mit.edu 37 19 8194032 8194032 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8194032C>T uc002mjf.3 - 16 2193 c.2176G>A c.(2176-2178)Gat>Aat p.D726N NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 726 EGF-like 9; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCACACTCATCCACGTCTGTG 0.652000 85 45 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179584144 179584144 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:179584144C>T uc021vsy.1 - 79 20466 c.20241G>A c.(20239-20241)ctG>ctA p.L6747L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L3408L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7674 Ig-like 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACGTCTTTCAGCTTGCGGA 0.517000 30 37 0 0 0.006999 0 0 RNF17 56163 broad.mit.edu 37 13 25349022 25349022 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:25349022G>A uc001upr.3 + 2 338 c.297G>A c.(295-297)atG>atA p.M99I RNF17_uc010tdd.1_Intron|RNF17_uc010tde.2_Missense_Mutation_p.M99I|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.M38I|RNF17_uc001upq.1_Missense_Mutation_p.M99I NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 99 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACTCCATAATGGAAAAACTGC 0.323000 20 10 0 0 0.006214 0 0 CPNE4 131034 broad.mit.edu 37 3 131306334 131306334 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:131306334C>T uc011blq.2 - 7 938 c.828G>A c.(826-828)ggG>ggA p.G276G CPNE4_uc003eok.3_Silent_p.G258G|CPNE4_uc003eol.3_Silent_p.G276G|CPNE4_uc003eom.3_Silent_p.G258G NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 258 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GTACCTGTTTCCCTTCCATTG 0.453000 42 16 0 0 0.007413 0 0 CCDC135 84229 broad.mit.edu 37 16 57762339 57762339 + Missense_Mutation SNP A T T rs78948416 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:57762339A>T uc002emi.3 + 15 2323 c.2234A>T c.(2233-2235)gAg>gTg p.E745V CCDC135_uc002emj.3_Missense_Mutation_p.E745V|CCDC135_uc002emk.3_Missense_Mutation_p.E680V NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 745 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CGGCAGGTGGAGACCCAGCTG 0.607000 78 31 0 0 0.002836 0 0 SMARCA4 6597 broad.mit.edu 37 19 11145739 11145739 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:11145739C>T uc010dxp.3 + 29 4461 c.4101C>T c.(4099-4101)ttC>ttT p.F1367F SMARCA4_uc010dxo.3_Silent_p.F1367F|SMARCA4_uc002mqf.4_Silent_p.F1367F|SMARCA4_uc010dxq.3_Silent_p.F1334F|SMARCA4_uc010dxr.3_Silent_p.F1334F|SMARCA4_uc002mqj.4_Silent_p.F1334F|SMARCA4_uc010dxs.3_Silent_p.F1334F|SMARCA4_uc010dxt.1_Silent_p.F554F|SMARCA4_uc002mqh.4_Silent_p.F457F|SMARCA4_uc002mqi.1_Silent_p.F537F NM_001128844 NP_003063 P51532 SMCA4_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA. 1367 chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGAAGATGTTCGGCCGTGGCT 0.647000 """F, N, Mis""" NSCLC 16 6 0 0 0.003080 0 0 NLRP4 147945 broad.mit.edu 37 19 56373464 56373464 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:56373464G>A uc002qmd.4 + 4 2547 c.2125G>A c.(2125-2127)Gat>Aat p.D709N NLRP4_uc002qmf.3_Missense_Mutation_p.D634N|NLRP4_uc010etf.3_Missense_Mutation_p.D540N NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 709 ATP binding p.R708C(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACTCTCTCGTGATGACATCAG 0.478000 45 85 0 0 0.003610 0 0 DACT1 51339 broad.mit.edu 37 14 59113545 59113545 + Missense_Mutation SNP A G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:59113545A>G uc001xdw.3 + 3 2368 c.2204A>G c.(2203-2205)cAc>cGc p.H735R DACT1_uc010trv.2_Missense_Mutation_p.H454R|DACT1_uc001xdx.3_Missense_Mutation_p.H698R|DACT1_uc010trw.2_Missense_Mutation_p.H454R NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 735 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TCCCTGTTCCACTCCACCGTG 0.652000 76 30 0 0 0.012213 0 0 NRK 203447 broad.mit.edu 37 X 105189981 105189981 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:105189981G>A uc004emd.3 + 24 4477 c.4174G>A c.(4174-4176)Gag>Aag p.E1392K NRK_uc011msi.2_5'Flank NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1393 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GAGACCAGATGAGCTCCTTCA 0.443000 HNSCC(51;0.14) 19 14 0 0 0.002450 0 0 STRN 6801 broad.mit.edu 37 2 37111155 37111155 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:37111155G>A uc002rpn.3 - 8 1115 c.1106C>T c.(1105-1107)tCa>tTa p.S369L STRN_uc010ezx.3_Missense_Mutation_p.S332L NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 369 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TGGCTGCAATGAAGGAAGTTC 0.433000 7 13 0 0 0.001368 0 0 GFRAL 389400 broad.mit.edu 37 6 55216215 55216215 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:55216215C>T uc003pcm.1 + 4 621 c.535C>T c.(535-537)Cct>Tct p.P179S NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 179 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCAAAATATACCTTTTAACAT 0.433000 94 42 0 0 0.011902 0 0 TJP3 27134 broad.mit.edu 37 19 3736223 3736223 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:3736223G>A uc010xhv.2 + 9 1287 c.1287G>A c.(1285-1287)ctG>ctA p.L429L TJP3_uc010xhs.2_Silent_p.L396L|TJP3_uc010xht.2_Silent_p.L360L|TJP3_uc010xhu.2_Silent_p.L405L|TJP3_uc010xhw.2_Silent_p.L415L NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 410 PDZ 3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTGCGGCTGGCAGGGGGCA 0.677000 33 29 0 0 0.008361 0 0 CD5L 922 broad.mit.edu 37 1 157803140 157803140 + Missense_Mutation SNP G T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:157803140G>T uc001frk.4 - 4 1024 c.881C>A c.(880-882)tCc>tAc p.S294Y NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 294 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTCTCTGAAGGAGGGAGAGAG 0.587000 64 32 8.4185e-14 8.81668e-14 0.012213 1 0 MUC6 4588 broad.mit.edu 37 11 1017269 1017269 + Silent SNP G A A rs71472140 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:1017269G>A uc001lsw.2 - 30 5583 c.5532C>T c.(5530-5532)tcC>tcT p.S1844S NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 1844 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAAGGAGGTGGAGAAAGATG 0.542000 531 11 0 0 0.001855 0 0 PHACTR2 9749 broad.mit.edu 37 6 144086817 144086817 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:144086817G>A uc010khi.3 + 5 1313 c.1114G>A c.(1114-1116)Gct>Act p.A372T PHACTR2_uc003qjq.4_Missense_Mutation_p.A361T|PHACTR2_uc010khh.3_Missense_Mutation_p.A281T|PHACTR2_uc003qjr.4_Missense_Mutation_p.A292T NM_001100164 NP_001093634 O75167 PHAR2_HUMAN Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA. 361 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CAGCGTTGGAGCTGACCTGCC 0.567000 58 38 0 0 0.006999 0 0 MLL2 8085 broad.mit.edu 37 12 49427579 49427580 + Missense_Mutation DNP GG AA AA TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:49427579_49427580GG>AA uc001rta.4 - 38 10908_10909 c.10908_10909CC>TT c.(10906-10911)ctccct>ctTTct p.P3637S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 3637 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CCATGGCCAGGGAGCAGCTGAC 0.663000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 16 6 0 0 0.004672 0 0 TCEA2 6919 broad.mit.edu 37 20 62700770 62700770 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:62700770C>T uc021wgq.1 + 4 1042 c.386C>T c.(385-387)cCt>cTt p.P129L TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.P102L|TCEA2_uc010gku.2_Missense_Mutation_p.L73F NM_003195 NP_942016 Q15560 TCEA2_HUMAN Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA. 129 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) ACCACATTTCCTCCGGTGCCT 0.672000 6 10 0 0 0.006214 0 0 PLXDC2 84898 broad.mit.edu 37 10 20335859 20335859 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:20335859G>A uc001iqg.1 + 2 1023 c.386G>A c.(385-387)cGg>cAg p.R129Q PLXDC2_uc001iqh.1_Intron NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 129 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TCTGCCAGCCGGGATTTATGG 0.373000 66 32 0 0 0.010818 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103470286 103470286 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:103470286G>A uc001ymi.1 - 3 658 c.426C>T c.(424-426)gcC>gcT p.A142A NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA. 142 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CGTCCTGAAAGGCGTAGTGCA 0.572000 8 14 0 0 0.004007 0 0 TEX101 83639 broad.mit.edu 37 19 43922358 43922358 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:43922358G>A uc002owk.3 + 8 1174 c.613G>A c.(613-615)Gcc>Acc p.A205T TEX101_uc010xwo.2_Missense_Mutation_p.A187T NM_031451 NP_001123483 Q9BY14 TX101_HUMAN Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA. 187 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) AGGCTGTACAGCCATGATTGG 0.507000 66 30 0 0 0.009535 0 0 RRN3P3 100131998 broad.mit.edu 37 16 22441236 22441236 + RNA SNP G A A rs114681793 by1000genomes TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:22441236G>A uc010vbu.1 - 4 c.1170C>T RRN3P3_uc002dkp.2_Non-coding_Transcript Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA. TGTTCCTCTCGATGATGGTGT 0.507000 39 4 0 0 0.009096 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947944 21947944 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:21947944G>A uc010kuk.3 - 3 605 c.485C>T c.(484-486)tCt>tTt p.S162F CDCA7L_uc003sve.4_Missense_Mutation_p.S128F|CDCA7L_uc010kul.3_Missense_Mutation_p.S116F|CDCA7L_uc003svf.4_Missense_Mutation_p.S161F NM_018719 NP_001120842 Q96GN5 CDA7L_HUMAN Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA. 162 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CTGCTCGGAAGAACTGTTTTT 0.418000 30 13 0 0 0.001855 0 0 DNAH5 1767 broad.mit.edu 37 5 13809263 13809263 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:13809263C>T uc003jfd.2 - 45 7684 c.7642G>A c.(7642-7644)Gaa>Aaa p.E2548K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2548 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TACAGGTATTCCTGGGTACGC 0.438000 Kartagener syndrome 85 51 0 0 0.003610 0 0 FAM86EP 348926 broad.mit.edu 37 4 3945031 3945031 + RNA SNP A G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:3945031A>G uc011bvu.2 - 5 c.2051T>C FAM86EP_uc003ghn.3_Non-coding_Transcript Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA. GCCATCTCCAAGTGCTCTTTG 0.483000 59 18 0 0 0.008871 0 0 EPGN 255324 broad.mit.edu 37 4 75174855 75174855 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:75174855C>T uc003hic.1 + 1 136 c.89C>T c.(88-90)cCa>cTa p.P30L BC016361_uc003hhv.1_Intron|EPGN_uc003hhw.3_Missense_Mutation_p.P30L|EPGN_uc003hib.1_Missense_Mutation_p.P30L|EPGN_uc003hhy.1_Missense_Mutation_p.P30L|EPGN_uc003hhz.1_Missense_Mutation_p.P30L|EPGN_uc010iin.1_Intron|EPGN_uc003hhx.1_Non-coding_Transcript|EPGN_uc003hia.1_Missense_Mutation_p.P30L Q6UW88 EPGN_HUMAN Homo sapiens epithelial mitogen homolog (mouse) (EPGN), mRNA. 30 activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis extracellular region|integral to plasma membrane MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity breast(3)|liver(1)|lung(1)|skin(1) 6 Lung(101;0.196) GTAACACCTCCAATCACAGCC 0.428000 57 33 0 0 0.003755 0 0 ABCF1 23 broad.mit.edu 37 6 30552334 30552334 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:30552334C>T uc003nql.3 + 13 1477 c.1382C>T c.(1381-1383)tCc>tTc p.S461F ABCF1_uc003nqk.2_Missense_Mutation_p.S462F|ABCF1_uc003nqm.3_Missense_Mutation_p.S423F NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA. 461 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 ATGCGTGTCTCCCTGGCCAGG 0.607000 48 26 0 0 0.010818 0 0 MEFV 4210 broad.mit.edu 37 16 3299632 3299632 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:3299632G>A uc002cun.1 - 2 1099 c.1059C>T c.(1057-1059)ccC>ccT p.P353P MEFV_uc021tbw.1_Silent_p.P142P|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 353 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCTGGCACCGGGGGCAGCCAG 0.647000 29 11 0 0 0.008291 0 0 OTOGL 283310 broad.mit.edu 37 12 80732982 80732982 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:80732982G>A uc001szd.3 + 41 4967 c.4961G>A c.(4960-4962)gGa>gAa p.G1654E NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CATCTTACAGGAATCATAGAC 0.408000 142 72 0 0 0.003610 0 0 NFASC 23114 broad.mit.edu 37 1 204985617 204985617 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:204985617G>A uc010prc.2 + 26 3702 c.2173G>A c.(2173-2175)Gaa>Aaa p.E725K NFASC_uc001hbj.3_Missense_Mutation_p.E1225K|NFASC_uc010pra.2_Missense_Mutation_p.E1159K|NFASC_uc001hbi.3_Missense_Mutation_p.E1154K|NFASC_uc010prb.2_Missense_Mutation_p.E1174K|NFASC_uc001hbl.2_Missense_Mutation_p.E301K|NFASC_uc001hbm.2_Missense_Mutation_p.E248K|NFASC_uc009xbh.2_Silent_p.T79T|NFASC_uc001hbo.2_Silent_p.T100T O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 1332 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGAGGGCAACGAAAGCTCAGA 0.572000 46 18 0 0 0.006122 0 0 SPTBN4 57731 broad.mit.edu 37 19 41021331 41021331 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:41021331C>T uc002ony.3 + 14 2965 c.2879C>T c.(2878-2880)tCc>tTc p.S960F SPTBN4_uc002onx.3_Missense_Mutation_p.S960F|SPTBN4_uc002onz.3_Missense_Mutation_p.S960F|SPTBN4_uc010egx.3_5'UTR NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 960 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTGCGTTCCTGCCAGGAC 0.607000 8 8 0 0 0.003080 0 0 ZNF613 79898 broad.mit.edu 37 19 52447376 52447376 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:52447376C>T uc002pxz.2 + 5 704 c.240C>T c.(238-240)atC>atT p.I80I ZNF613_uc002pya.2_Silent_p.I44I NM_001031721 NP_079116 Q6PF04 ZN613_HUMAN Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA. 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I80M(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) TCCTAGAAATCAAGAAAGTTG 0.368000 10 4 0 0 0.009096 0 0 COL4A5 1287 broad.mit.edu 37 X 107925060 107925060 + Silent SNP C T T rs104886404 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:107925060C>T uc022ccg.1 + 46 4360 c.4158C>T c.(4156-4158)atC>atT p.I1386I COL4A5_uc004enz.1_Silent_p.I1380I NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 1380 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CTCCAGGAATCCCTGGCCAGC 0.453000 Alport syndrome with Diffuse Leiomyomatosis 43 29 0 0 0.007291 0 0 FREM1 158326 broad.mit.edu 37 9 14812992 14812992 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:14812992C>T uc003zlm.3 - 16 3527 c.2711G>A c.(2710-2712)gGa>gAa p.G904E FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 904 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CACCTCTCCTCCCTCTGAGCA 0.463000 38 54 0 0 0.003610 0 0 GPR123 84435 broad.mit.edu 37 10 134906625 134906625 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:134906625G>A uc001llw.3 + 9 1896 c.1896G>A c.(1894-1896)agG>agA p.R632R GPR123_uc001llx.4_Intron Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CACTGTGCAGGAAAGAAGGTT 0.617000 4 6 0 0 0.003080 0 0 abParts 0 broad.mit.edu 37 15 22473188 22473188 + RNA SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:22473188G>A uc001yuj.2 - 6 c.140C>T Parts of antibodies, mostly variable regions. CACCAGTCCTGGGCCCGACTC 0.622000 109 30 0 0 0.010818 0 0 SDK1 221935 broad.mit.edu 37 7 3658864 3658864 + Nonsense_Mutation SNP G T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:3658864G>T uc003smx.3 + 1 590 c.451G>T c.(451-453)Gaa>Taa p.E151* NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 151 Ig-like C2-type 1. 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) CTACAGCAGCGAATATAAGTA 0.453000 34 12 9.05144e-12 9.38444e-12 0.001855 1 0 SRC 6714 broad.mit.edu 37 20 36022382 36022382 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:36022382C>T uc002xgx.3 + 5 884 c.435C>T c.(433-435)tcC>tcT p.S145S SRC_uc002xgy.3_Silent_p.S145S NM_005417 NP_938033 P12931 SRC_HUMAN Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA. 145 SH3. Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly caveola|cytosol|mitochondrial inner membrane ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) CCTCCGACTCCATCCAGGCTG 0.642000 14 6 0 0 0.003080 0 0 COL1A1 1277 broad.mit.edu 37 17 48267704 48267704 + Missense_Mutation SNP C T T rs74315133 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:48267704C>T uc002iqm.3 - 34 2561 c.2435G>A c.(2434-2436)gGc>gAc p.G812D NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 812 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCCAGCAAAGCCAGCAGGGCC 0.612000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 37 23 0 0 0.004656 0 0 MYO9B 4650 broad.mit.edu 37 19 17306052 17306052 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:17306052C>T uc010eak.3 + 21 3968 c.3816C>T c.(3814-3816)ccC>ccT p.P1272P MYO9B_uc002nfi.3_Silent_p.P1272P|MYO9B_uc002nfj.1_Silent_p.P1272P|MYO9B_uc002nfl.1_5'Flank NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 1272 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CCGAGACCCCCGAGGACAAGA 0.711000 34 15 0 0 0.003163 0 0 MAP3K1 4214 broad.mit.edu 37 5 56178115 56178115 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:56178115C>T uc003jqw.4 + 13 3589 c.3088C>T c.(3088-3090)Cac>Tac p.H1030Y NM_005921 NP_005912 Q13233 M3K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA. 1030 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TCTACAATTCCACAGAAACTG 0.448000 54 20 0 0 0.007413 0 0 GRIN2A 2903 broad.mit.edu 37 16 9862775 9862775 + Nonsense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:9862775C>T uc010uym.2 - 12 2838 c.2528G>A c.(2527-2529)tGg>tAg p.W843* GRIN2A_uc002czo.4_Nonsense_Mutation_p.W843*|GRIN2A_uc010uyn.2_Nonsense_Mutation_p.W686*|GRIN2A_uc002czr.4_Nonsense_Mutation_p.W843* NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 843 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCGCAGCTTCCAGTAGAAGAG 0.582000 50 26 0 0 0.004656 0 0 RAF1 5894 broad.mit.edu 37 3 12641889 12641889 + Nonsense_Mutation SNP G T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:12641889G>T uc003bxf.4 - 7 1275 c.860C>A c.(859-861)tCa>tAa p.S287* RAF1_uc011aut.2_Nonsense_Mutation_p.S72*|RAF1_uc011auu.2_Nonsense_Mutation_p.S205* NM_002880 NP_002871 P04049 RAF1_HUMAN Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA. 287 Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) AAAAGTACCTGATTCGCTGTG 0.413000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 38 18 1.00905e-13 1.05321e-13 0.008871 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5240009 5240009 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:5240009G>A uc003jdl.3 + 15 2632 c.2494G>A c.(2494-2496)Gga>Aga p.G832R ADAMTS16_uc003jdk.1_Missense_Mutation_p.G832R NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 832 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AATCGCTACTGGACCAACCAA 0.512000 80 41 0 0 0.009718 0 0 UROC1 131669 broad.mit.edu 37 3 126224812 126224812 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:126224812G>A uc010hsi.2 - 6 699 c.645C>T c.(643-645)ccC>ccT p.P215P UROC1_uc003eiz.2_Silent_p.P215P NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 215 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CGATTCCCTGGGGACCGATGT 0.657000 36 28 0 0 0.006320 0 0 FUT9 10690 broad.mit.edu 37 6 96651433 96651433 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:96651433G>A uc003pop.4 + 2 743 c.402G>A c.(400-402)atG>atA p.M134I FUT9_uc021zcw.1_Missense_Mutation_p.M134I NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 134 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GGATTTGGATGAATTTGGAAT 0.458000 41 20 0 0 0.007413 0 0 PLXNA4 91584 broad.mit.edu 37 7 131864512 131864512 + Missense_Mutation SNP T G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:131864512T>G uc003vra.4 - 19 4037 c.3808A>C c.(3808-3810)Acg>Ccg p.T1270P NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1270 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CGCTTCAGCGTGAGGTCACTT 0.602000 20 7 0 0 0.006214 0 0 IST1 9798 broad.mit.edu 37 16 71950427 71950427 + Nonsense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:71950427C>T uc002fbj.1 + 4 473 c.190C>T c.(190-192)Cga>Tga p.R64* IST1_uc010cgh.1_Nonsense_Mutation_p.R64*|IST1_uc002fbk.1_Nonsense_Mutation_p.R51*|IST1_uc002fbm.1_Nonsense_Mutation_p.R51*|IST1_uc002fbl.1_Nonsense_Mutation_p.R51*|IST1_uc010vmk.1_Intron P53990 IST1_HUMAN Homo sapiens increased sodium tolerance 1 homolog (yeast) (IST1), mRNA. 51 Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B. cell cycle|cell division ER-Golgi intermediate compartment|cytoplasmic membrane-bounded vesicle protein binding GAAAGATGAACGAGCTCGGAT 0.547000 35 14 0 0 0.002450 0 0 ATP7B 540 broad.mit.edu 37 13 52549113 52549113 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:52549113G>A uc001vfw.2 - 1 400 c.243C>T c.(241-243)tcC>tcT p.S81S ATP7B_uc001vfy.2_Silent_p.S81S|ATP7B_uc010adv.2_Silent_p.S81S|ATP7B_uc001vfx.2_Silent_p.S81S|ATP7B_uc010tgt.1_Silent_p.S81S|ATP7B_uc010tgu.1_Silent_p.S81S|ATP7B_uc010tgv.1_Silent_p.S81S|ATP7B_uc010tgw.1_Silent_p.S49S NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 81 HMA 1. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTTTCAAATTGGAAATCCTGT 0.517000 Wilson disease 58 34 0 0 0.002836 0 0 GK2 2712 broad.mit.edu 37 4 80328580 80328580 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:80328580C>T uc003hlu.3 - 0 793 c.775G>A c.(775-777)Gac>Aac p.D259N NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 259 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity p.G258E(1) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GCACATTGGTCCCCCAAACAC 0.458000 80 37 0 0 0.010771 0 0 ALOXE3 59344 broad.mit.edu 37 17 8012520 8012520 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:8012520C>T uc002gka.3 - 10 2033 c.2002G>A c.(2002-2004)Ggc>Agc p.G668S ALOXE3_uc010cnr.3_Missense_Mutation_p.G512S|ALOXE3_uc010vuo.2_Missense_Mutation_p.G644S NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA. 512 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 ATCTTCAGGCCGTCGTCTCGG 0.667000 31 22 0 0 0.002299 0 0 RGS7 6000 broad.mit.edu 37 1 240964804 240964804 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:240964804C>T uc001hyt.2 - 9 914 c.860G>A c.(859-861)gGa>gAa p.G287E RGS7_uc010pyh.2_Intron|RGS7_uc010pyj.1_Intron|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyv.2_Missense_Mutation_p.G455E|RGS7_uc001hyw.2_Intron NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 455 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.T287T(1)|p.T287M(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CATTGAGTTTCCAGACTTACG 0.328000 17 3 0 0 0.009096 0 0 MUC5B 727897 broad.mit.edu 37 11 1260184 1260184 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:1260184G>A uc001lta.3 + 25 3440 c.3381G>A c.(3379-3381)acG>acA p.T1127T MUC5B_uc009yct.2_Silent_p.T1127T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 1127 Cys-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTTTCTGCACGGCTGTGGCTG 0.672000 6 3 0 0 0.004672 0 0 LRRC25 126364 broad.mit.edu 37 19 18502870 18502870 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:18502870G>A uc002niw.3 - 1 1487 c.845C>T c.(844-846)cCt>cTt p.P282L LRRC25_uc002nix.3_Missense_Mutation_p.P282L NM_145256 NP_660299 Q8N386 LRC25_HUMAN Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA. 282 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 ACAGTAGACAGGCTGGGAAGC 0.562000 43 28 0 0 0.007291 0 0 RRNAD1 51093 broad.mit.edu 37 1 156702139 156702139 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:156702139C>T uc001fpu.3 + 2 937 c.303C>T c.(301-303)acC>acT p.T101T RRNAD1_uc001fpv.3_Silent_p.T101T NM_015997 NP_057081 Q96FB5 RRNAD_HUMAN Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA. 101 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 TGGCCTTTACCCGGATGCCTG 0.597000 59 16 0 0 0.006122 0 0 OSBPL7 114881 broad.mit.edu 37 17 45895675 45895675 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:45895675G>A uc002ilx.1 - 6 761 c.558C>T c.(556-558)tcC>tcT p.S186S OSBPL7_uc002ilw.1_5'Flank NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA. 186 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 CCCTCAGCCAGGAAGACACTT 0.647000 63 32 0 0 0.004878 0 0 GAK 2580 broad.mit.edu 37 4 845554 845554 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:845554G>A uc003gbm.4 - 24 3691 c.3492C>T c.(3490-3492)gtC>gtT p.V1164V GAK_uc003gbn.4_Silent_p.V1085V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.V1017V NM_005255 NP_005246 O14976 GAK_HUMAN Homo sapiens cyclin G associated kinase (GAK), mRNA. 1164 cell cycle Golgi apparatus|focal adhesion|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) TGGGTGCGCGGACCCCCCGCT 0.597000 43 28 0 0 0.007291 0 0 DUOX2 50506 broad.mit.edu 37 15 45388058 45388058 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:45388058G>A uc001zun.3 - 29 4251 c.4048C>T c.(4048-4050)Cca>Tca p.P1350S DUOX2_uc010bea.3_Missense_Mutation_p.P1350S NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1350 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TTGCCCTTTGGGGATGAGTAG 0.632000 35 15 0 0 0.002450 0 0 HEPH 9843 broad.mit.edu 37 X 65476088 65476088 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:65476088G>A uc011moz.2 + 16 3111 c.2974G>A c.(2974-2976)Gaa>Aaa p.E992K HEPH_uc004dwn.3_Missense_Mutation_p.E941K|HEPH_uc004dwo.3_Missense_Mutation_p.E671K|HEPH_uc010nkr.3_Missense_Mutation_p.E749K|HEPH_uc011mpa.2_Missense_Mutation_p.E941K|HEPH_uc010nks.3_Missense_Mutation_p.E230K NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 938 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity 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 GTATTTGGAGGAAAATGTGGC 0.433000 37 26 0 0 0.006320 0 0 NKAIN2 154215 broad.mit.edu 37 6 125139609 125139609 + Missense_Mutation SNP G T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:125139609G>T uc003pzo.3 + 5 889 c.612G>T c.(610-612)atG>atT p.M204I NKAIN2_uc010keq.3_Missense_Mutation_p.M137I|NKAIN2_uc003pzp.3_Missense_Mutation_p.M203I|NKAIN2_uc010ker.3_Missense_Mutation_p.M114I NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA. 204 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) TACAGCCTATGTACATGTAAG 0.368000 36 13 3.27435e-08 3.36109e-08 0.002450 1 0 DNAH10 196385 broad.mit.edu 37 12 124414959 124414959 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:124414959G>A uc001uft.4 + 71 12294 c.12269G>A c.(12268-12270)gGa>gAa p.G4090E DNAH10_uc001ufu.4_Missense_Mutation_p.G3E NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 4090 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTCATGTATGGAGGACGGGCC 0.567000 13 5 0 0 0.001168 0 0 SELE 6401 broad.mit.edu 37 1 169701065 169701065 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:169701065G>A uc001ggm.4 - 3 597 c.440C>T c.(439-441)tCc>tTc p.S147F C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 147 EGF-like. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity p.S147F(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GCCACTGCAGGATGTATTGGT 0.443000 19 5 0 0 0.001168 0 0 KCNB2 9312 broad.mit.edu 37 8 73480322 73480322 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:73480322C>T uc003xzb.3 + 1 941 c.353C>T c.(352-354)tCg>tTg p.S118L NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 118 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.S118L(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGTGCACTTTCGTTTGGCCAA 0.423000 46 48 0 0 0.003610 0 0 RG9MTD2 93587 broad.mit.edu 37 4 100478546 100478546 + Nonsense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:100478546G>A uc003huy.3 - 3 689 c.376C>T c.(376-378)Caa>Taa p.Q126* RG9MTD2_uc003huz.4_Nonsense_Mutation_p.Q126*|RG9MTD2_uc003hva.4_Nonsense_Mutation_p.Q126* NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA. 126 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) TAACATCGTTGAATCTGCTTA 0.353000 39 17 0 0 0.007413 0 0 PCGF2 7703 broad.mit.edu 37 17 36894641 36894641 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:36894641G>A uc002hqp.1 - 8 787 c.541C>T c.(541-543)Ctc>Ttc p.L181F NM_007144 NP_009075 P35227 PCGF2_HUMAN Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA. 181 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TTGTTGCGGAGAAACTTGGCA 0.572000 31 13 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9048053 9048053 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:9048053G>A uc002mkp.3 - 4 33782 c.33578C>T c.(33577-33579)tCa>tTa p.S11193L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11195 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAATGGCTGAAATCATCTT 0.448000 11 11 0 0 0.001368 0 0 FARP1 10160 broad.mit.edu 37 13 99092480 99092481 + Missense_Mutation DNP CC TT TT TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:99092480_99092481CC>TT uc001vnh.3 + 23 2952_2953 c.2713_2714CC>TT c.(2713-2715)cct>TTt p.P905F FARP1_uc001vnj.3_Missense_Mutation_p.P874F NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA. 874 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CAGCAGCCCCCCTGACAACAGT 0.609000 61 45 0 0 0.004672 0 0 LRRTM2 26045 broad.mit.edu 37 5 138208984 138208984 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:138208984C>T uc011cyz.1 - 1 1723 c.1266G>A c.(1264-1266)cgG>cgA p.R422R CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.R288R|CTNNA1_uc003ldl.3_5'Flank NM_015564 NP_056379 O43300 LRRT2_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA. 422 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCGTAATTACCCGCTGAGTGA 0.408000 84 44 0 0 0.003610 0 0 FBXW7 55294 broad.mit.edu 37 4 153247366 153247366 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:153247366C>T uc003ims.3 - 9 1598 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q FBXW7_uc011cii.2_Missense_Mutation_p.R479Q|FBXW7_uc003imt.3_Missense_Mutation_p.R479Q|FBXW7_uc011cih.2_Missense_Mutation_p.R303Q|FBXW7_uc003imq.3_Missense_Mutation_p.R399Q|FBXW7_uc003imr.3_Missense_Mutation_p.R361Q NM_033632 NP_361014 Q969H0 FBXW7_HUMAN Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA. 479 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development SCF ubiquitin ligase complex|nucleolus|nucleoplasm protein binding p.R479Q(62)|p.R479L(11)|p.R479G(3)|p.R399Q(3)|p.R479P(3)|p.R479*(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R479R(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 42 23 0 0 0.002780 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2603 2603 + RNA SNP C G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrGL000237.1:2603C>G uc011mgu.1 - 0 c.84G>C Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. gttacaggctccagcctccag 0.612000 4 2 0 0 0.004672 0 0 FSTL5 56884 broad.mit.edu 37 4 162307342 162307342 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:162307342G>A uc003iqh.3 - 15 2537 c.2101C>T c.(2101-2103)Cca>Tca p.P701S FSTL5_uc003iqi.3_Missense_Mutation_p.P700S|FSTL5_uc010iqv.3_Missense_Mutation_p.P691S NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 701 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGGCCATCTGGAGAGACATAT 0.463000 50 19 0 0 0.007413 0 0 TTC21B 79809 broad.mit.edu 37 2 166747104 166747104 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:166747104G>A uc002udk.3 - 23 3281 c.3148C>T c.(3148-3150)Cgg>Tgg p.R1050W TTC21B_uc002udj.2_Non-coding_Transcript NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA. 1050 cilium axoneme|cytoplasm|cytoskeleton binding p.R1050Q(1) breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 CGATCTTTCCGAGCTTTATTA 0.338000 12 11 0 0 0.001368 0 0 PCSK1 5122 broad.mit.edu 37 5 95757600 95757600 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:95757600G>A uc003kls.2 - 4 843 c.604C>T c.(604-606)Ccc>Tcc p.P202S PCSK1_uc021ybq.1_Missense_Mutation_p.P155S NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 202 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.D201N(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCGTTTGTGGGATCATATCGG 0.328000 99 30 0 0 0.003271 0 0 TCEA3 6920 broad.mit.edu 37 1 23743760 23743760 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:23743760C>T uc021oig.1 - 3 497 c.362G>A c.(361-363)cGa>cAa p.R121Q TCEA3_uc021oih.1_Missense_Mutation_p.R100Q|TCEA3_uc010ody.1_Missense_Mutation_p.R84Q NM_003196 NP_003187 O75764 TCEA3_HUMAN Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA. 121 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding p.R121*(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) GGGGTCTTCTCGTTTTTTCCT 0.443000 30 32 0 0 0.003271 0 0 P2RY8 286530 broad.mit.edu 37 X 1584751 1584751 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:1584751C>T uc022brv.1 - 0 701 c.701G>A c.(700-702)cGc>cAc p.R234H CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.R234H NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA. 234 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCCCACCGCGCGCCTCCGCTG 0.657000 T CRLF2 """B-ALL, Downs associated ALL""" 30 15 0 0 0.002450 0 0 TNXB 7148 broad.mit.edu 37 6 32038156 32038156 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:32038156G>A uc003nzl.2 - 13 5228 c.5026C>T c.(5026-5028)Cgc>Tgc p.R1676C NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1758 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCCCCAAGGCGGGGTGGGGCC 0.597000 127 80 0 0 0.003610 0 0 KSR1 8844 broad.mit.edu 37 17 25932546 25932546 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:25932546G>A uc010crg.3 + 14 1798 c.1353G>A c.(1351-1353)cgG>cgA p.R451R KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Silent_p.R231R NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA. 587 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGCCCTGGCGGGGCCCCATCT 0.662000 3 7 0 0 0.001984 0 0 PSG9 5678 broad.mit.edu 37 19 43762547 43762547 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:43762547G>A uc002owd.4 - 4 1149 c.1050C>T c.(1048-1050)ctC>ctT p.L350L PSG9_uc002owe.4_Silent_p.L257L|PSG9_uc010xwm.2_Silent_p.L257L|PSG9_uc002owf.4_Silent_p.L164L|PSG9_uc002owg.2_Silent_p.L257L NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 350 Ig-like C2-type 3. female pregnancy extracellular region p.L350P(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGGACAAGTCGAGGTTTTCTC 0.453000 138 82 0 0 0.003610 0 0 TFEC 22797 broad.mit.edu 37 7 115580888 115580888 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:115580888G>A uc003vhj.2 - 7 1014 c.761C>T c.(760-762)cCt>cTt p.P254L TFEC_uc003vhm.2_Missense_Mutation_p.P187L|TFEC_uc003vhk.2_Missense_Mutation_p.P225L|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR NM_012252 NP_036384 O14948 TFEC_HUMAN Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA. 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) ATTCTGCTCAGGATGGCTCTG 0.493000 95 58 0 0 0.003610 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101709193 101709193 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:101709193G>A uc003knn.3 - 12 2195 c.2023C>T c.(2023-2025)Ctt>Ttt p.L675F SLCO6A1_uc003kno.3_Missense_Mutation_p.L422F|SLCO6A1_uc003knp.3_Missense_Mutation_p.L675F|SLCO6A1_uc003knq.3_Missense_Mutation_p.L613F NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 675 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGTTTGCAAAGAAAACCTAAA 0.308000 36 17 0 0 0.006122 0 0 ARGFX 503582 broad.mit.edu 37 3 121305437 121305437 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:121305437G>A uc003eef.3 + 4 1033 c.938G>A c.(937-939)gGa>gAa p.G313E NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 313 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GTAGACTTGGGATTTCTCTGA 0.403000 42 19 0 0 0.010504 0 0 PSG7 5676 broad.mit.edu 37 19 43439566 43439566 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:43439566G>A uc002ovl.4 - 2 519 c.417C>T c.(415-417)ttC>ttT p.F139F PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 140 Ig-like V-type. female pregnancy extracellular region Prostate(69;0.00682) GGTATAAGGTGAAGGTGAAAC 0.512000 309 97 0 0 0.003610 0 0 DAPK2 23604 broad.mit.edu 37 15 64275881 64275881 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:64275881C>T uc002amr.3 - 2 196 c.165G>A c.(163-165)aaG>aaA p.K55K DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.K45K NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA. 55 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) TCTGCCGCTTCTTGATGAACT 0.617000 27 11 0 0 0.002450 0 0 ACTL9 284382 broad.mit.edu 37 19 8808458 8808458 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8808458C>T uc002mkl.2 - 0 715 c.594G>A c.(592-594)acG>acA p.T198T NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN Homo sapiens actin-like 9 (ACTL9), mRNA. 198 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CCCCGTGTCCCGTGTCCACCA 0.667000 26 15 0 0 0.004990 0 0 NCAN 1463 broad.mit.edu 37 19 19337555 19337555 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:19337555G>A uc002nlz.3 + 6 1432 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K NCAN_uc010ecc.1_Missense_Mutation_p.E9K NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 445 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GCCCACTGGGGAAGTGTGGCT 0.617000 14 14 0 0 0.003163 0 0 FAM179A 165186 broad.mit.edu 37 2 29240795 29240795 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:29240795G>A uc010ezl.3 + 9 1684 c.1333G>A c.(1333-1335)Gag>Aag p.E445K FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 445 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGCCGGCAGGAGCCCCGCTT 0.687000 6 12 0 0 0.001855 0 0 TCEA2 6919 broad.mit.edu 37 20 62700772 62700772 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:62700772C>T uc021wgq.1 + 4 1044 c.388C>T c.(388-390)Ccg>Tcg p.P130S TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.P103S|TCEA2_uc010gku.2_Silent_p.L73L NM_003195 NP_942016 Q15560 TCEA2_HUMAN Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA. 130 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CACATTTCCTCCGGTGCCTGT 0.672000 8 11 0 0 0.010729 0 0 DLX5 1749 broad.mit.edu 37 7 96650112 96650112 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:96650112G>A uc003uon.3 - 2 1014 c.806C>T c.(805-807)tCc>tTc p.S269F NM_005221 NP_005212 P56178 DLX5_HUMAN Homo sapiens distal-less homeobox 5 (DLX5), mRNA. 269 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CGGCAGGTGGGAATTGATTGA 0.597000 38 15 0 0 0.004007 0 0 MAP7D2 256714 broad.mit.edu 37 X 20034251 20034251 + Silent SNP T C C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:20034251T>C uc010nfo.2 - 10 1722 c.1605A>G c.(1603-1605)caA>caG p.Q535Q MAP7D2_uc004czq.2_Silent_p.Q379Q|MAP7D2_uc011mji.2_Silent_p.Q442Q|MAP7D2_uc004czr.2_Silent_p.Q494Q|MAP7D2_uc011mjj.2_Silent_p.Q449Q NM_001168465 NP_001161937 Q96T17 MA7D2_HUMAN Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA. 494 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 tttcttgttcttgcttttctt 0.428000 10 6 0 0 0.001168 0 0 MYO19 80179 broad.mit.edu 37 17 34859798 34859798 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:34859798G>A uc010wcy.2 - 20 2960 c.1968C>T c.(1966-1968)ttC>ttT p.F656F MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Silent_p.F456F NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA. 656 Myosin head-like. mitochondrial outer membrane|myosin complex ATP binding|actin 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) ACCGGATGGGGAAGCCAGCAG 0.632000 8 3 0 0 0.004672 0 0 OR52N4 390072 broad.mit.edu 37 11 5776500 5776500 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:5776500C>T uc001mbu.3 + 0 578 c.530C>T c.(529-531)cCc>cTc p.P177L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 177 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) AATATACTTCCCCATACCTAC 0.493000 59 33 0 0 0.010818 0 0 CDH20 28316 broad.mit.edu 37 18 59174649 59174649 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:59174649C>T uc010dps.1 + 4 1025 c.873C>T c.(871-873)tcC>tcT p.S291S CDH20_uc002lif.2_Silent_p.S285S NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 291 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CAATTAGCTCCACTGTCGGGA 0.428000 84 17 0 0 0.006122 0 0 NLRP13 126204 broad.mit.edu 37 19 56424336 56424336 + Nonsense_Mutation SNP C A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:56424336C>A uc010ygg.2 - 4 872 c.847G>T c.(847-849)Gaa>Taa p.E283* NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 283 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GAAATCAATTCAGCAAAGGTA 0.413000 104 18 2.48551e-13 2.58559e-13 0.004990 1 0 OR4A47 403253 broad.mit.edu 37 11 48510798 48510798 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:48510798C>T uc010rhx.2 + 0 454 c.454C>T c.(454-456)Ctg>Ttg p.L152L NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGGAGGATTTCTGCACTCAGT 0.428000 47 23 0 0 0.012319 0 0 FBLN5 10516 broad.mit.edu 37 14 92357594 92357594 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:92357594G>A uc010aue.3 - 6 1186 c.713C>T c.(712-714)aCc>aTc p.T238I FBLN5_uc010aud.3_Missense_Mutation_p.T202I|FBLN5_uc001xzx.4_Missense_Mutation_p.T197I NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN Homo sapiens fibulin 5 (FBLN5), mRNA. 197 EGF-like 4; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CTCATTGAGGGTAAAACCAGG 0.478000 31 19 0 0 0.007413 0 0 AKR1B1 231 broad.mit.edu 37 7 134136347 134136347 + Silent SNP G A A rs115549384 by1000genomes TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:134136347G>A uc003vrp.1 - 1 299 c.225C>T c.(223-225)atC>atT p.I75I NM_001628 NP_001619 P15121 ALDR_HUMAN Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA. 75 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CCTTGCTGACGATGAAGAGCT 0.562000 64 26 0 0 0.008361 0 0 CHST10 9486 broad.mit.edu 37 2 101019034 101019034 + Missense_Mutation SNP C G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:101019034C>G uc002tam.3 - 3 582 c.184G>C c.(184-186)Gaa>Caa p.E62Q NM_004854 NP_004845 O43529 CHSTA_HUMAN Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA. 62 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 ACCTTCAGTTCCTCAGGAATG 0.572000 22 35 0 0 0.005524 0 0 SDK1 221935 broad.mit.edu 37 7 4091391 4091391 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:4091391C>T uc003smx.3 + 18 2979 c.2840C>T c.(2839-2841)tCc>tTc p.S947F SDK1_uc010kso.3_Missense_Mutation_p.S223F NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 947 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TACTTCACTTCCGTTCTGTGC 0.552000 94 42 0 0 0.010771 0 0 KATNAL1 84056 broad.mit.edu 37 13 30805462 30805462 + Silent SNP A G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:30805462A>G uc001uss.3 - 6 975 c.874T>C c.(874-876)Ttg>Ctg p.L292L KATNAL1_uc001ust.3_Silent_p.L292L NM_001014380 NP_115492 Q9BW62 KATL1_HUMAN Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA. 292 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) ATCTCAAACAACAGACGAACT 0.398000 48 27 0 0 0.005443 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421644 134421644 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:134421644G>A uc022ceq.1 - 5 1348 c.958C>T c.(958-960)Cct>Tct p.P320S DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.P225S NM_007131 NP_009062 P51815 ZN75D_HUMAN Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA. 320 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GTATCACCAGGATTTTCCCTG 0.383000 85 43 0 0 0.010771 0 0 TK2 7084 broad.mit.edu 37 16 66570869 66570869 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:66570869G>A uc002eos.3 - 3 634 c.283C>T c.(283-285)Ctg>Ttg p.L95L TK2_uc010vip.2_5'UTR|TK2_uc002eor.3_Silent_p.L64L|TK2_uc010cdq.3_Silent_p.L64L|TK2_uc010viq.2_Intron|TK2_uc010vir.2_Silent_p.L70L|TK2_uc010cdr.3_Silent_p.L46L NM_004614 NP_004605 O00142 KITM_HUMAN Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 95 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity large_intestine(1)|lung(2)|urinary_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) CCACTCACCAGAGGATTGTGG 0.542000 71 36 0 0 0.007835 0 0 IL15RA 3601 broad.mit.edu 37 10 5995144 5995144 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:5995144C>T uc021pmo.1 - 7 990 c.976G>A c.(976-978)Gaa>Aaa p.E326K IL15RA_uc010qau.2_Missense_Mutation_p.E207K|IL15RA_uc021pmp.1_Missense_Mutation_p.E177K|IL15RA_uc001iiv.3_Missense_Mutation_p.E240K|IL15RA_uc001iiw.3_Missense_Mutation_p.E204K|IL15RA_uc001iiy.3_Missense_Mutation_p.E88K NM_001243539 NP_001230468 Q13261 I15RA_HUMAN Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA. 240 cell proliferation Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 GCTTCCATTTCAACGCTGGCC 0.547000 58 42 0 0 0.003610 0 0 PDP1 54704 broad.mit.edu 37 8 94935737 94935737 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:94935737C>T uc011lgn.2 + 1 1676 c.1627C>T c.(1627-1629)Cgc>Tgc p.R543C PDP1_uc003ygf.3_Missense_Mutation_p.R509C|PDP1_uc003yge.3_Missense_Mutation_p.R484C|PDP1_uc010max.3_Missense_Mutation_p.R509C|PDP1_uc011lgm.2_Missense_Mutation_p.R484C|PDP1_uc022ayg.1_Missense_Mutation_p.R484C NM_001161778 NP_001155250 Q9P0J1 PDP1_HUMAN Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 484 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 CCATCTCATTCGCCACGCTGT 0.478000 110 33 0 0 0.004289 0 0 CD1E 913 broad.mit.edu 37 1 158325195 158325195 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:158325195C>T uc001fse.3 + 2 754 c.461C>T c.(460-462)tCc>tTc p.S154F CD1E_uc010pid.2_Missense_Mutation_p.S152F|CD1E_uc010pie.2_Missense_Mutation_p.S55F|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.S154F|CD1E_uc001fsf.3_Missense_Mutation_p.S154F|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.S55F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.S154F|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 154 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CAAGGAATTTCCTGGGAGCCA 0.448000 57 33 0 0 0.002836 0 0 ABL1 25 broad.mit.edu 37 9 133756025 133756025 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:133756025C>T uc004bzw.3 + 9 1655 c.1652C>T c.(1651-1653)cCt>cTt p.P551L ABL1_uc004bzv.3_Missense_Mutation_p.P570L NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 551 DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCTGAGATGCCTCACTCCAAG 0.622000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 17 12 0 0 0.001855 0 0 DNAH5 1767 broad.mit.edu 37 5 13922271 13922271 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:13922271G>A uc003jfd.2 - 4 647 c.605C>T c.(604-606)tCc>tTc p.S202F DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 202 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCTTCCAGGGAGCTCAAGAA 0.542000 Kartagener syndrome 26 10 0 0 0.001368 0 0 OR2M3 127062 broad.mit.edu 37 1 248367245 248367245 + Silent SNP C A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:248367245C>A uc010pzg.2 + 0 876 c.876C>A c.(874-876)ctC>ctA p.L292L NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTACAGCCTCCGCAACAAGG 0.473000 51 30 1.06801e-11 1.10361e-11 0.009535 1 0 GABRQ 55879 broad.mit.edu 37 X 151818304 151818304 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:151818304G>A uc004ffp.1 + 5 730 c.710G>A c.(709-711)gGa>gAa p.G237E NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 237 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) ACTTTCCTGGGAAGGACGATT 0.483000 69 41 0 0 0.008740 0 0 WDR64 128025 broad.mit.edu 37 1 241904917 241904917 + Missense_Mutation SNP A G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:241904917A>G uc001hzg.2 + 10 1598 c.1391A>G c.(1390-1392)aAc>aGc p.N464S WDR64_uc021plh.1_Missense_Mutation_p.N258S|WDR64_uc021pli.1_Missense_Mutation_p.N184S NM_144625 NP_653226 B1ANS9 WDR64_HUMAN Homo sapiens WD repeat domain 64 (WDR64), mRNA. 464 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ATGCTTTACAACAAATATTTT 0.348000 20 9 0 0 0.004482 0 0 SMPD3 55512 broad.mit.edu 37 16 68405851 68405851 + Silent SNP C T T rs147838351 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:68405851C>T uc002ewa.3 - 2 656 c.234G>A c.(232-234)gcG>gcA p.A78A SMPD3_uc010cfe.3_Silent_p.A78A|SMPD3_uc010vlh.2_Silent_p.A78A NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA. 78 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) AGCCGAGAAACGCAAAGGGCA 0.672000 34 15 0 0 0.004007 0 0 IPO5 3843 broad.mit.edu 37 13 98666328 98666328 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:98666328C>T uc001vne.3 + 21 2419 c.2239C>T c.(2239-2241)Ctt>Ttt p.L747F NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 729 NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|Ran GTPase binding|protein transporter activity breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 ATCCATGCCTCTTCTCCTGGA 0.433000 76 43 0 0 0.013114 0 0 ALPP 250 broad.mit.edu 37 2 233244902 233244902 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:233244902C>T uc002vsq.3 + 5 829 c.664C>T c.(664-666)Cta>Tta p.L222L NM_001632 NP_001623 P05187 PPB1_HUMAN Homo sapiens alkaline phosphatase, placental (ALPP), mRNA. 222 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) CCAGGTGATCCTAGGTGGAGG 0.622000 30 28 0 0 0.010818 0 0 ALPK2 115701 broad.mit.edu 37 18 56246229 56246229 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:56246229C>T uc002lhj.4 - 3 1993 c.1779G>A c.(1777-1779)cgG>cgA p.R593R NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 593 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CATGGGAACTCCGACCAGTCG 0.493000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 24 0 0 0.003954 0 0 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:50370414A>G uc002pqj.3 - 1 158 c.48T>C c.(46-48)ccT>ccC p.P16P PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Silent_p.P16P NM_007254 NP_009185 Q96T60 PNKP_HUMAN Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA. 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding p.P16P(12) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721000 Other BER factors 28 9 0 0 0.008291 0 0 CHSY1 22856 broad.mit.edu 37 15 101718622 101718622 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:101718622C>T uc021sxt.1 - 2 1856 c.1380G>A c.(1378-1380)ggG>ggA p.G460G CHSY1_uc010usd.2_Silent_p.G188G NM_014918 NP_055733 Q86X52 CHSS1_HUMAN Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA. 460 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCATTTTCTTCCCTTTGTGCT 0.507000 28 14 0 0 0.001855 0 0 SLC25A31 83447 broad.mit.edu 37 4 128694625 128694625 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:128694625C>T uc003ifl.3 + 5 990 c.844C>T c.(844-846)Cgt>Tgt p.R282C NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA. 282 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 TTCCTTTTTTCGTGGCGCCTT 0.383000 23 22 0 0 0.002299 0 0 PLCB3 5331 broad.mit.edu 37 11 64026164 64026164 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:64026164C>T uc009ypi.3 + 10 1359 c.1232C>T c.(1231-1233)tCc>tTc p.S411F PLCB3_uc009ypg.2_Missense_Mutation_p.S411F|PLCB3_uc009yph.2_Missense_Mutation_p.S344F NM_000932 NP_000923 Q01970 PLCB3_HUMAN Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA. 411 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GTCATCCTCTCCTTCGAGAAC 0.612000 48 34 0 0 0.003755 0 0 TLN2 83660 broad.mit.edu 37 15 62967500 62967500 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:62967500G>A uc002alb.4 + 7 937 c.937G>A c.(937-939)Gtg>Atg p.V313M NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 313 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.G312G(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CACATATGGCGTGTCCTTCTT 0.502000 50 23 0 0 0.005443 0 0 MINPP1 9562 broad.mit.edu 37 10 89264929 89264929 + Missense_Mutation SNP T G G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:89264929T>G uc001keu.3 + 0 707 c.257T>G c.(256-258)cTc>cGc p.L86R MINPP1_uc001kev.3_Missense_Mutation_p.L86R|MINPP1_uc009xtf.2_Non-coding_Transcript|MINPP1_uc021pvv.1_5'Flank NM_004897 NP_004888 Q9UNW1 MINP1_HUMAN Homo sapiens multiple inositol-polyphosphate phosphatase 1 (MINPP1), transcript variant 1, mRNA. 86 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) CTGGTCGCCCTCATTCGCCAC 0.692000 OREG0020348 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 8 0 0 0.003080 0 0 GZF1 64412 broad.mit.edu 37 20 23350250 23350250 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:23350250G>A uc010gdb.3 + 5 1831 c.1657G>A c.(1657-1659)Ggc>Agc p.G553S GZF1_uc002wsy.3_Missense_Mutation_p.G553S|GZF1_uc010zsq.2_Missense_Mutation_p.G77S|GZF1_uc010zsr.2_Missense_Mutation_p.G62S|GZF1_uc002wsz.3_Missense_Mutation_p.G553S NM_022482 NP_071927 Q9H116 GZF1_HUMAN Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA. 553 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGACCAGTGCGGCAAGCAGTT 0.597000 121 59 0 0 0.003610 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374929 8374929 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:8374929G>A uc001qui.2 - 6 1443 c.884C>T c.(883-885)cCg>cTg p.P295L FAM90A1_uc001quh.2_Missense_Mutation_p.P295L NM_018088 NP_060558 Q86YD7 F90A1_HUMAN Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA. 295 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) AATCGGAGCCGGGGCAGATCT 0.652000 72 22 0 0 0.002299 0 0 STXBP3 6814 broad.mit.edu 37 1 109338903 109338903 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:109338903C>T uc001dvy.3 + 13 1233 c.1158C>T c.(1156-1158)tcC>tcT p.S386S NM_007269 NP_009200 O00186 STXB3_HUMAN Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA. 386 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TGAAAGATTCCATGCGAGTAC 0.328000 33 10 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 9070674 9070674 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:9070674C>T uc002mkp.3 - 2 16976 c.16772G>A c.(16771-16773)gGa>gAa p.G5591E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5593 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGAGTCCCTCCCTGGAAAAG 0.512000 78 62 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9019291 9019291 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:9019291G>A uc002mkp.3 - 22 37800 c.37596C>T c.(37594-37596)tcC>tcT p.S12532S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12534 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCTTGGGAGGGAGAATGGAG 0.458000 20 6 0 0 0.003080 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16877421 16877421 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:16877421G>A uc010rcu.1 - 4 361 c.346C>T c.(346-348)Ccg>Tcg p.P116S PLEKHA7_uc001mmo.3_Missense_Mutation_p.P116S NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 116 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 ATGCTGGACGGTCTTTGGTTT 0.552000 126 72 0 0 0.003610 0 0 ZNF681 148213 broad.mit.edu 37 19 23937634 23937634 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:23937634C>T uc002nrk.4 - 2 359 c.217G>A c.(217-219)Gaa>Aaa p.E73K ZNF681_uc002nrl.4_Missense_Mutation_p.E4K|ZNF681_uc002nrj.4_Missense_Mutation_p.E4K|ZNF681_uc002nrm.1_Non-coding_Transcript NM_138286 NP_612143 Q96N22 ZN681_HUMAN Homo sapiens zinc finger protein 681 (ZNF681), mRNA. 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CCTGGGGGTTCGGCCACCATC 0.418000 32 24 0 0 0.003954 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681966 69681966 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:69681966C>T uc003hee.3 + 0 254 c.229C>T c.(229-231)Cct>Tct p.P77S UGT2B10_uc011cam.2_Missense_Mutation_p.P77S NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 77 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TGAAGTTTATCCTACATCTTT 0.348000 59 32 0 0 0.009535 0 0 AOAH 313 broad.mit.edu 37 7 36698799 36698799 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:36698799G>A uc022abu.1 - 3 763 c.362C>T c.(361-363)cCa>cTa p.P121L AOAH_uc003tfh.4_Missense_Mutation_p.P121L|AOAH_uc011kba.2_Missense_Mutation_p.P89L NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 121 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 ATGACACAATGGTTGGCCAGT 0.463000 72 41 0 0 0.011902 0 0 MUC4 4585 broad.mit.edu 37 3 195491985 195491985 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:195491985C>T uc021xjp.1 - 9 13963 c.13807G>A c.(13807-13809)Ggc>Agc p.G4603S MUC4_uc003fuz.3_Missense_Mutation_p.G201S|MUC4_uc003fva.3_Missense_Mutation_p.G83S|MUC4_uc003fvb.3_Missense_Mutation_p.G119S|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G119S|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Missense_Mutation_p.G112S|MUC4_uc021xjn.1_Missense_Mutation_p.G292S|MUC4_uc021xjo.1_Missense_Mutation_p.G83S|MUC4_uc021xjg.1_Missense_Mutation_p.G83S|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G167S|MUC4_uc021xjj.1_Missense_Mutation_p.G167S|MUC4_uc021xjk.1_Missense_Mutation_p.G344S|MUC4_uc021xjl.1_Missense_Mutation_p.G83S|MUC4_uc003fvo.3_Missense_Mutation_p.G367S|MUC4_uc003fvp.3_Missense_Mutation_p.G316S NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1360 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGCCGAGGCCCCAGCGACCT 0.662000 12 12 0 0 0.010729 0 0 PDGFRA 5156 broad.mit.edu 37 4 54294256 54294256 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:54294256C>T uc003gzy.3 + 12 1266 c.1080C>T c.(1078-1080)ttC>ttT p.F360F PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzx.4_Silent_p.F345F|PDGFRA_uc011bzt.1_Silent_p.F324F|PDGFRA_uc011bzu.2_Silent_p.F345F|PDGFRA_uc003gzz.3_Silent_p.F286F|PDGFRA_uc003hab.3_Silent_p.F325F|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_5'UTR NM_030917 NP_112179 P16234 PGFRA_HUMAN Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA. 0 Ig-like C2-type 4. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTCCGTTTTTCCCTCCAGGAG 0.463000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 17 6 0 0 0.001168 0 0 OR51L1 119682 broad.mit.edu 37 11 5020909 5020909 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:5020909C>T uc010qyu.2 + 0 697 c.697C>T c.(697-699)Cgt>Tgt p.R233C NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TATTGCATCTCGTGAAGAGCA 0.418000 37 21 0 0 0.008871 0 0 NMRAL1 57407 broad.mit.edu 37 16 4511823 4511823 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:4511823G>A uc002cwm.3 - 5 1014 c.858C>T c.(856-858)gaC>gaT p.D286D NMRAL1_uc002cwn.3_Silent_p.D286D|NMRAL1_uc002cwo.3_Silent_p.D286D NM_020677 NP_065728 Q9HBL8 NMRL1_HUMAN Homo sapiens NmrA-like family domain containing 1 (NMRAL1), mRNA. 286 nucleus|perinuclear region of cytoplasm binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1) 15 CCAGCCACTGGTCCAGCGTCA 0.647000 102 58 0 0 0.003610 0 0 TPH2 121278 broad.mit.edu 37 12 72425076 72425076 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:72425076C>T uc009zrw.1 + 9 1344 c.1203C>T c.(1201-1203)gaC>gaT p.D401D TPH2_uc001swy.2_Silent_p.D311D NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 401 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) AAGCCTTTGACCCAAAGACAA 0.418000 53 37 0 0 0.004878 0 0 CALCA 796 broad.mit.edu 37 11 14992719 14992719 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:14992719G>A uc001mlv.1 - 1 71 c.20C>T c.(19-21)tCc>tTc p.S7F CALCA_uc001mlt.2_Missense_Mutation_p.S7F|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.S7F NM_001741 NP_001732 P06881 CALCA_HUMAN Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA. 7 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) CAGGAAGGGGGAGAACTTTTG 0.542000 41 21 0 0 0.002780 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762876 130762876 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:130762876G>A uc003qcb.3 + 1 3687 c.1309G>A c.(1309-1311)Gaa>Aaa p.E437K TMEM200A_uc003qca.3_Missense_Mutation_p.E437K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E437K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E437K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E437K NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 437 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGAGAACAAAGAAGACCCGAT 0.423000 33 22 0 0 0.002299 0 0 ASTL 431705 broad.mit.edu 37 2 96789678 96789678 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:96789678C>T uc010yui.2 - 8 1207 c.1207G>A c.(1207-1209)Gga>Aga p.G403R NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 403 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GGCTGGATTCCTGCTTCTGAA 0.592000 31 28 0 0 0.006320 0 0 OR9A4 130075 broad.mit.edu 37 7 141618923 141618923 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:141618923G>A uc003vwu.1 + 0 248 c.248G>A c.(247-249)gGa>gAa p.G83E NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ATGCTTTGGGGATTGCTGCTC 0.517000 109 37 0 0 0.003755 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107462 107462 + RNA SNP A T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrGL000211.1:107462A>T uc003boa.3 + 4 c.1002A>T Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. GTAAGGGTCAATTTTTTATAT 0.294000 30 4 0 0 0.000602 0 0 MUC6 4588 broad.mit.edu 37 11 1018448 1018448 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:1018448G>A uc001lsw.2 - 30 4404 c.4353C>T c.(4351-4353)tcC>tcT p.S1451S NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 1451 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAAGGAGGTGGAGAAAGGTG 0.552000 395 12 0 0 0.001855 0 0 FGA 2243 broad.mit.edu 37 4 155509998 155509998 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:155509998G>A uc003iod.1 - 2 369 c.311C>T c.(310-312)tCg>tTg p.S104L FGA_uc003ioe.1_Missense_Mutation_p.S104L|FGA_uc003iof.1_Missense_Mutation_p.S104L NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 104 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGTGGTCAACGAATGAGAATC 0.294000 112 45 0 0 0.003610 0 0 TBCEL 219899 broad.mit.edu 37 11 120957608 120957608 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:120957608C>T uc001pxo.3 + 7 1283 c.1078C>T c.(1078-1080)Cgt>Tgt p.R360C TBCEL_uc009zay.3_Missense_Mutation_p.R360C|TBCEL_uc001pxp.3_Missense_Mutation_p.R216C|TBCEL_uc001pxq.3_Non-coding_Transcript NM_152715 NP_689928 Q5QJ74 TBCEL_HUMAN Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA. 360 Ubiquitin-like. cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) AATGAGCATTCGTCTGGACCA 0.433000 19 9 0 0 0.006214 0 0 SUPT3H 8464 broad.mit.edu 37 6 44900436 44900436 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:44900436G>A uc003oxp.3 - 9 1032 c.866C>T c.(865-867)gCc>gTc p.A289V SUPT3H_uc003oxn.1_Missense_Mutation_p.A289V|SUPT3H_uc003oxo.3_Missense_Mutation_p.A300V|SUPT3H_uc011dvv.2_Missense_Mutation_p.A137V|SUPT3H_uc011dvw.2_Missense_Mutation_p.A203V NM_003599 NP_003590 O75486 SUPT3_HUMAN Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA. 371 histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 GCGTCGAATGGCCTCTCTGAT 0.428000 23 10 0 0 0.001855 0 0 PRDM9 56979 broad.mit.edu 37 5 23526840 23526840 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:23526840G>A uc003jgo.3 + 10 1825 c.1643G>A c.(1642-1644)gGg>gAg p.G548E NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 548 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.G548G(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ACACATACAGGGGAGAAGCTC 0.488000 HNSCC(3;0.000094) 64 35 0 0 0.004289 0 0 MT4 84560 broad.mit.edu 37 16 56601683 56601683 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:56601683G>A uc002eje.1 + 1 132 c.52G>A c.(52-54)Gac>Aac p.D18N NM_032935 NP_116324 P47944 MT4_HUMAN Homo sapiens metallothionein 4 (MT4), mRNA. 18 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 CATGTGTGGAGACAACTGCAA 0.498000 57 27 0 0 0.012213 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622409 41622410 + Missense_Mutation DNP GG AA AA rs145103345 byFrequency TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:41622409_41622410GG>AA uc002opu.1 + 2 277_278 c.221_222GG>AA c.(220-222)cgg>cAA p.R74Q CYP2F1_uc021uuv.1_5'UTR|CYP2F1_uc010xvv.1_Missense_Mutation_p.R74Q|CYP2F1_uc002opv.1_Non-coding_Transcript NM_000774 NP_000765 P24903 CP2F1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA. 74 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 GGACCCAGGCGGGTGGTGGTCC 0.599000 94 45 0 0 0.004672 0 0 GPR20 2843 broad.mit.edu 37 8 142367672 142367672 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:142367672C>T uc022bby.1 - 0 352 c.352G>A c.(352-354)Ggc>Agc p.G118S GPR20_uc003ywf.3_Missense_Mutation_p.G118S NM_005293 NP_005284 Q99678 GPR20_HUMAN Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA. 118 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CGCAGGCAGCCCCTGGCGCCG 0.612000 41 22 0 0 0.002780 0 0 CA10 56934 broad.mit.edu 37 17 50008478 50008478 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:50008478C>T uc002itv.4 - 3 905 c.169G>A c.(169-171)Gga>Aga p.G57R CA10_uc002itw.4_Missense_Mutation_p.G51R|CA10_uc002itx.4_Missense_Mutation_p.G51R|CA10_uc002ity.4_Missense_Mutation_p.G51R|CA10_uc002itz.2_Missense_Mutation_p.G51R NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 51 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TTCACCAATCCCCAGAAAGAA 0.438000 80 40 0 0 0.006999 0 0 ACE 1636 broad.mit.edu 37 17 61566100 61566100 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:61566100C>T uc002jau.2 + 15 2431 c.2397C>T c.(2395-2397)ctC>ctT p.L799L ACE_uc010wpj.2_Silent_p.L225L|ACE_uc010ddv.2_Silent_p.L26L|ACE_uc002jav.2_Silent_p.L225L|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.L109L NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 799 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GAGCCATCCTCCAGTTTTACC 0.557000 63 35 0 0 0.004878 0 0 MMP11 4320 broad.mit.edu 37 22 24125674 24125674 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr22:24125674C>T uc002zxx.3 + 7 1432 c.1410C>T c.(1408-1410)ccC>ccT p.P470P MMP11_uc002zxy.3_Non-coding_Transcript NM_005940 NP_005931 P24347 MMP11_HUMAN Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA. 470 Hemopexin-like 4. collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) AAGGCTTCCCCCGTCTCGTGG 0.607000 80 37 0 0 0.004878 0 0 DHX16 8449 broad.mit.edu 37 6 30627339 30627339 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:30627339G>A uc003nqz.3 - 11 2129 c.1917C>T c.(1915-1917)atC>atT p.I639I DHX16_uc003nqy.3_Silent_p.I158I|DHX16_uc011dmo.2_Silent_p.I579I NM_003587 NP_003578 O60231 DHX16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA. 639 Helicase C-terminal. RNA splicing|mRNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding kidney(2)|ovary(2) 4 GGAGCTCCCGGATTTTGGAGC 0.612000 18 9 0 0 0.004482 0 0 ABCC12 94160 broad.mit.edu 37 16 48125042 48125042 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:48125042C>T uc002efc.1 - 22 3620 c.3274G>A c.(3274-3276)Gaa>Aaa p.E1092K ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 1092 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GAAATGTATTCCCTGAGCAGC 0.498000 111 54 0 0 0.003610 0 0 FAM82A1 151393 broad.mit.edu 37 2 38224657 38224657 + Splice_Site SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:38224657G>A uc002rqn.2 + 8 1704 c.1578_splice c.e8+1 p.K526_splice FAM82A1_uc002rqk.1_Silent_p.K203K|FAM82A1_uc002rql.3_Splice_Site_p.K348_splice|FAM82A1_uc021vga.1_Splice_Site_p.K348_splice|FAM82A1_uc002rqm.3_Splice_Site_p.K203_splice NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA. 348 cytoplasm|integral to membrane|microtubule|spindle pole binding endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 13 ATTTCCTTAAGGTACATTTTG 0.398000 11 21 0 0 0.008871 0 0 TMED7-TICAM2 100302736 broad.mit.edu 37 5 114916853 114916853 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:114916853G>A uc003kre.3 - 3 995 c.608C>T c.(607-609)tCc>tTc p.S203F TMED7-TICAM2_uc003krd.3_3'UTR|TMED7-TICAM2_uc003krc.3_Missense_Mutation_p.S34F|TMED7-TICAM2_uc021ycq.1_Missense_Mutation_p.S34F NM_001164468 NP_001157940 Q86XR7 TCAM2_HUMAN Homo sapiens TMED7-TICAM2 readthrough (TMED7-TICAM2), transcript variant 1, mRNA. 34 TIR. I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway Golgi apparatus|intrinsic to membrane|plasma membrane protein binding|transmembrane receptor activity AGACTTCTTGGAATCTGACTC 0.468000 95 43 0 0 0.008740 0 0 GRIK3 2899 broad.mit.edu 37 1 37291238 37291238 + Missense_Mutation SNP G T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:37291238G>T uc001caz.2 - 10 1855 c.1720C>A c.(1720-1722)Ctg>Atg p.L574M GRIK3_uc001cba.1_Missense_Mutation_p.L574M NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 574 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CTGACCCCCAGGTAGGCGAGG 0.567000 21 14 1.05317e-09 1.08466e-09 0.002450 1 0 DNAH1 25981 broad.mit.edu 37 3 52395225 52395225 + Silent SNP T C C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:52395225T>C uc011bef.2 + 28 4992 c.4731T>C c.(4729-4731)ggT>ggC p.G1577G NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 1577 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGTTTGGGGGTGCCCCAGCTG 0.617000 20 8 0 0 0.004482 0 0 NLRP13 126204 broad.mit.edu 37 19 56413429 56413429 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:56413429G>A uc010ygg.2 - 8 2786 c.2761C>T c.(2761-2763)Cgc>Tgc p.R921C NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 921 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCATCTGGGCGACCCAAGGCC 0.547000 110 19 0 0 0.010504 0 0 OR4A15 81328 broad.mit.edu 37 11 55136340 55136340 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:55136340G>A uc010rif.2 + 0 981 c.981G>A c.(979-981)agG>agA p.R327R NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 327 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GTGCCATGAGGAAACTTTGGA 0.373000 56 39 0 0 0.005524 0 0 GRM7 2917 broad.mit.edu 37 3 7620138 7620138 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:7620138C>T uc003bqm.2 + 7 1819 c.1545C>T c.(1543-1545)gtC>gtT p.V515V GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V515V|GRM7_uc003bql.2_Silent_p.V515V|GRM7_uc003bqn.1_Silent_p.V98V|GRM7_uc010hch.1_Silent_p.V26V NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 515 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GTAAAGGAGTCCGAGAGATAC 0.463000 21 16 0 0 0.004007 0 0 CALML5 51806 broad.mit.edu 37 10 5541195 5541195 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:5541195G>A uc001iic.2 - 0 339 c.207C>T c.(205-207)ttC>ttT p.F69F NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN Homo sapiens calmodulin-like 5 (CALML5), mRNA. 69 EF-hand 2. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 CCGCCGTCAGGAACTCCTGGA 0.657000 37 18 0 0 0.007413 0 0 TLR9 54106 broad.mit.edu 37 3 52257979 52257979 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:52257979G>A uc003ddb.3 - 4 854 c.644C>T c.(643-645)aCc>aTc p.T215I TLR9_uc003dda.2_Missense_Mutation_p.T118I|TLR9_uc003ddc.1_Missense_Mutation_p.T103I NM_017442 NP_059138 Q9NR96 TLR9_HUMAN Homo sapiens toll-like receptor 9 (TLR9), mRNA. 118 I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AGCCAAGAAGGTGCTGGGCTC 0.602000 90 53 0 0 0.003610 0 0 C20orf94 128710 broad.mit.edu 37 20 10603436 10603436 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:10603436C>T uc010zre.2 + 7 816 c.636C>T c.(634-636)tcC>tcT p.S212S NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA. 212 protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 14 AGGCTTCCTCCAGTCCCCCAT 0.488000 49 14 0 0 0.002450 0 0 EHMT1 79813 broad.mit.edu 37 9 140638524 140638524 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:140638524G>A uc011mfc.2 + 5 1189 c.1152G>A c.(1150-1152)gaG>gaA p.E384E EHMT1_uc004coa.3_Silent_p.E384E|EHMT1_uc004cob.1_Silent_p.E353E NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA. 384 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GCATGTCGGAGGCTGATCGCG 0.572000 14 21 0 0 0.010504 0 0 COL6A6 131873 broad.mit.edu 37 3 130285586 130285586 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:130285586C>T uc010htl.3 + 3 1354 c.1323C>T c.(1321-1323)atC>atT p.I441I NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 441 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ATCTGCTTATCGATGGCTCAG 0.473000 27 17 0 0 0.004007 0 0 BTN2A1 11120 broad.mit.edu 37 6 26458872 26458872 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:26458872C>T uc003nib.2 + 1 256 c.8C>T c.(7-9)tCa>tTa p.S3L BTN2A1_uc021yni.1_Missense_Mutation_p.S3L|BTN2A1_uc003nic.2_Missense_Mutation_p.S3L|BTN2A1_uc011dko.2_Intron NM_007049 NP_001184162 Q7KYR7 BT2A1_HUMAN Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA. 3 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 CTCATGGAATCAGCTGCTGCC 0.622000 84 4 0 0 0.001168 0 0 BTRC 8945 broad.mit.edu 37 10 103310575 103310575 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:103310575C>T uc001kta.3 + 13 1889 c.1776C>T c.(1774-1776)ccC>ccT p.P592P BTRC_uc001ktb.3_Silent_p.P556P|BTRC_uc001ktc.3_Silent_p.P566P NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA. 592 P -> H (in dbSNP:rs2270439). Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction SCF ubiquitin ligase complex|cytosol|nucleus endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) AAGCTGAACCCCCCCGTTCCC 0.438000 23 21 0 0 0.002780 0 0 CHM 1121 broad.mit.edu 37 X 85119751 85119751 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:85119751G>A uc004eet.3 - 14 1876 c.1846C>T c.(1846-1848)Ctt>Ttt p.L616F CHM_uc011mqz.2_Missense_Mutation_p.L468F NM_000390 NP_000381 P24386 RAE1_HUMAN Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA. 616 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TCTCCATCAAGGATAATGTCT 0.453000 12 7 0 0 0.003080 0 0 TSIX 9383 broad.mit.edu 37 X 73046260 73046260 + RNA SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:73046260G>A uc004ebn.2 + 0 c.34221G>A XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. GATGTGAATAGAAACAGAAGT 0.388000 23 11 0 0 0.010729 0 0 CXADRP2 646243 broad.mit.edu 37 15 22016432 22016432 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:22016432C>T uc010tzk.1 - 0 447 c.285G>A c.(283-285)gtG>gtA p.V95V Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA. GAGCTCTTTTCACTTTGCACT 0.393000 45 10 0 0 0.001368 0 0 MAML3 55534 broad.mit.edu 37 4 140651714 140651714 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:140651714G>A uc021xsg.1 - 2 2939 c.2187C>T c.(2185-2187)ttC>ttT p.F729F MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.F192F NM_018717 NP_061187 Q96JK9 MAML3_HUMAN Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA. 725 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGCTGCCCAGGAAGCCGGGGC 0.622000 9 4 0 0 0.009096 0 0 SNRPN 6638 broad.mit.edu 37 15 25442574 25442574 + RNA SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:25442574G>A uc001yzf.1 + 5 c.569G>A SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank P63162 RSMN_HUMAN Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein 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) CTGGCCCCGGGAAAATGTCCC 0.602000 Prader-Willi syndrome 12 6 0 0 0.001168 0 0 C8orf34 116328 broad.mit.edu 37 8 69358599 69358599 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:69358599G>A uc010lyz.3 + 2 802 c.511G>A c.(511-513)Gat>Aat p.D171N C8orf34_uc010lyx.2_Missense_Mutation_p.D171N|C8orf34_uc010lyy.2_Missense_Mutation_p.D171N|C8orf34_uc003xyb.3_Missense_Mutation_p.D60N NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 85 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAGAAGCTATGATAAACCTTG 0.338000 34 49 0 0 0.003610 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 37 22 0 0 0.004656 0 0 FAM13C 220965 broad.mit.edu 37 10 61007471 61007471 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:61007471G>A uc001jkn.3 - 13 1793 c.1661C>T c.(1660-1662)cCa>cTa p.P554L PHYHIPL_uc001jkk.4_3'UTR|PHYHIPL_uc001jkl.4_3'UTR|PHYHIPL_uc001jkm.4_3'UTR|FAM13C_uc010qid.2_Missense_Mutation_p.P470L|FAM13C_uc001jko.3_Missense_Mutation_p.P456L|FAM13C_uc010qie.2_Missense_Mutation_p.P471L NM_198215 NP_001137245 Q8NE31 FA13C_HUMAN Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. 554 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATCTGCCATTGGTATCCTATC 0.328000 18 32 0 0 0.010818 0 0 PIK3CB 5291 broad.mit.edu 37 3 138402568 138402568 + Missense_Mutation SNP T C C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:138402568T>C uc011bmq.2 - 15 2377 c.2377A>G c.(2377-2379)Aag>Gag p.K793E PIK3CB_uc011bmn.2_Missense_Mutation_p.K305E|PIK3CB_uc011bmo.2_Missense_Mutation_p.K239E|PIK3CB_uc011bmp.2_Missense_Mutation_p.K380E NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 793 G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CCAAATACCTTGTTATTGTAT 0.328000 337 165 0 0 0.003610 0 0 SYNM 23336 broad.mit.edu 37 15 99669736 99669736 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:99669736G>A uc002bup.3 + 4 1288 c.1168G>A c.(1168-1170)Gga>Aga p.G390R SYNM_uc002buo.3_Missense_Mutation_p.G390R|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 391 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 CACATCTATTGGAGGTGATGC 0.507000 153 84 0 0 0.003610 0 0 DMD 1756 broad.mit.edu 37 X 32429959 32429959 + Missense_Mutation SNP T A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:32429959T>A uc004dda.1 - 29 4387 c.4143A>T c.(4141-4143)ttA>ttT p.L1381F DMD_uc004dcw.2_Missense_Mutation_p.L37F|DMD_uc004dcx.2_Missense_Mutation_p.L40F|DMD_uc004dcz.2_Missense_Mutation_p.L1258F|DMD_uc004dcy.1_Missense_Mutation_p.L1377F|DMD_uc004ddb.1_Missense_Mutation_p.L1373F|DMD_uc010ngo.1_Intron NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 1381 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACTCCTGGATTAAGTGTAAGG 0.458000 43 26 0 0 0.005443 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111505 7111505 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:7111505G>A uc001mfc.2 + 0 1341 c.1154G>A c.(1153-1155)aGa>aAa p.R385K NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 385 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex RNA binding|nucleotide binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGCTTGGAGAGAGGAGGAGGC 0.552000 11 9 0 0 0.010729 0 0 ZNF646 9726 broad.mit.edu 37 16 31092343 31092343 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:31092343C>T uc002eap.3 + 1 4987 c.4698C>T c.(4696-4698)ttC>ttT p.F1566F ZNF646_uc021tgu.1_Silent_p.F1566F NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 1566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.E1565K(1) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCAAGGAGTTCTTAAATCCTG 0.542000 52 34 0 0 0.003271 0 0 ZNF74 7625 broad.mit.edu 37 22 20759962 20759962 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr22:20759962C>T uc010gsm.3 + 5 851 c.639C>T c.(637-639)gcC>gcT p.A213A ZNF74_uc002zsg.3_Silent_p.A142A|ZNF74_uc002zsh.3_Silent_p.A213A|ZNF74_uc002zsi.3_Silent_p.A142A|ZNF74_uc010gsn.3_Silent_p.A142A NM_003426 NP_003417 Q16587 ZNF74_HUMAN Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA. 213 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GAACCAAGGCCCCCGCGAGAC 0.697000 16 13 0 0 0.001855 0 0 SPACA1 81833 broad.mit.edu 37 6 88757815 88757815 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:88757815G>A uc003pmn.3 + 0 309 c.192G>A c.(190-192)ccG>ccA p.P64P NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA. 64 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) ACTACGCTCCGCCTGAAACCG 0.647000 15 11 0 0 0.003163 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26899811 26899811 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:26899811C>T uc001bmr.1 + 20 2207 c.2044C>T c.(2044-2046)Ccc>Tcc p.P682S RPS6KA1_uc010ofe.1_Missense_Mutation_p.P590S|RPS6KA1_uc001bms.1_Missense_Mutation_p.P691S|RPS6KA1_uc009vsl.1_Missense_Mutation_p.P525S NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 682 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AGACAAGCTTCCCCAAAGCCA 0.602000 34 38 0 0 0.006230 0 0 CD22 933 broad.mit.edu 37 19 35837499 35837499 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:35837499C>T uc010edt.3 + 13 2527 c.2443C>T c.(2443-2445)Cca>Tca p.P815S CD22_uc010edu.3_Missense_Mutation_p.P727S|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.P638S|CD22_uc010xst.2_Missense_Mutation_p.P643S|CD22_uc010edx.3_Non-coding_Transcript NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 815 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TCCAGATTTTCCAGAAGATGA 0.532000 9 6 0 0 0.001984 0 0 ZNF423 23090 broad.mit.edu 37 16 49669843 49669843 + Missense_Mutation SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:49669843G>A uc002efs.3 - 4 3518 c.3220C>T c.(3220-3222)Cgc>Tgc p.R1074C ZNF423_uc010vgn.2_Missense_Mutation_p.R957C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 1074 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGCTTGCTGCGGAACTCCTTG 0.662000 17 8 0 0 0.004482 0 0 HTR5A 3361 broad.mit.edu 37 7 154876005 154876005 + Silent SNP C T T rs145653373 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:154876005C>T uc003wlu.1 + 1 946 c.882C>T c.(880-882)ttC>ttT p.F294F NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 294 integral to plasma membrane serotonin receptor activity p.F294L(2) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TTGGCGTGTTCGTGCTCTGCT 0.622000 65 34 0 0 0.003755 0 0 STX1B 112755 broad.mit.edu 37 16 31012906 31012906 + Missense_Mutation SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:31012906C>T uc010cad.2 - 1 161 c.49G>A c.(49-51)Gaa>Aaa p.E17K STX1B_uc010vfd.2_Missense_Mutation_p.E17K NM_052874 NP_443106 P61266 STX1B_HUMAN Homo sapiens syntaxin 1B (STX1B), mRNA. 17 E -> K (in Ref. 1; BAA07152). intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane SNAP receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 ACCTCCTCTTCATCATCACTG 0.617000 25 17 0 0 0.008871 0 0 GPR50 9248 broad.mit.edu 37 X 150349595 150349595 + Nonsense_Mutation SNP G T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:150349595G>T uc010ntg.2 + 1 1678 c.1540G>T c.(1540-1542)Gag>Tag p.E514* NM_004224 NP_004215 Q13585 MTR1L_HUMAN Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. 514 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CAGCCATGCTGAGCCCACCAC 0.607000 103 28 7.76418e-22 8.15897e-22 0.005443 1 0 OR2L13 284521 broad.mit.edu 37 1 248262875 248262875 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:248262875C>T uc001ids.3 + 2 535 c.198C>T c.(196-198)tcC>tcT p.S66S OR2L13_uc021pmc.1_Silent_p.S66S NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCCAGCTCTCCCTTATGGACC 0.537000 102 47 0 0 0.003610 0 0 FBN3 84467 broad.mit.edu 37 19 8190879 8190879 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8190879G>A uc002mjf.3 - 20 2645 c.2628C>T c.(2626-2628)ttC>ttT p.F876F NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 876 EGF-like 11; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGACTCCCGGGAAGGACTCAC 0.637000 41 19 0 0 0.010504 0 0 NFIC 4782 broad.mit.edu 37 19 3452490 3452490 + Silent SNP G A A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:3452490G>A uc010xhi.2 + 7 1165 c.1095G>A c.(1093-1095)cgG>cgA p.R365R NFIC_uc002lxo.3_Silent_p.R356R|NFIC_uc010xhh.2_Silent_p.R356R|NFIC_uc010xhj.2_Silent_p.R365R|NFIC_uc002lxp.3_Silent_p.R365R NM_001245002 NP_001231931 P08651 NFIC_HUMAN Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA. 365 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GGATCGCCCGGAGCCCACACC 0.647000 248 81 0 0 0.003610 0 0 FOXN2 3344 broad.mit.edu 37 2 48602501 48602501 + Silent SNP C T T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:48602501C>T uc002rwh.1 + 6 1530 c.1215C>T c.(1213-1215)ctC>ctT p.L405L NM_002158 NP_002149 P32314 FOXN2_HUMAN Homo sapiens forkhead box N2 (FOXN2), mRNA. 405 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GATCTCTGCTCCACCTTGCTG 0.403000 6 10 0 0 0.008291 0 0 REG1A 5967 broad.mit.edu 37 2 79350320 79350323 + Frame_Shift_Del DEL TGTC - - TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:79350320_79350323delTGTC uc010ysd.2 + 4 547_550 c.480_483delTGTC c.(478-483)tttgtcfs p.F160fs REG1A_uc002snz.3_Frame_Shift_Del_p.F160fs NM_002909 NP_002900 P05451 REG1A_HUMAN Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA. 160 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.V161L(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 AGTTCTCCTTTGTCTGCAAGTTCA 0.422 --- 7 --- --- 10 --- PTPN23 25930 broad.mit.edu 37 3 47454624 47454626 + In_Frame_Del DEL TGA - - TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:47454624_47454626delTGA uc003crf.1 + 24 4956_4958 c.4860_4862delTGA c.(4858-4863)tctgac>tcc p.D1622del PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_In_Frame_Del_p.D1492del|BC067356_uc003cri.3_5'Flank NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA. 1622 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCGGCCCTCTGACGACCCCCTC 0.581 --- 75 --- --- 26 --- B4GALT1 2683 broad.mit.edu 37 9 33166963 33166983 + In_Frame_Del DEL CGGCGGCACTGTTCGAGCCGC - - rs1064905 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:33166963_33166983delCGGCGGCACTGTTCGAGCCGC uc003zsg.2 - 0 374_394 c.185_205delGCGGCTCGAACAGTGCCGCCG c.(184-207)ggcggctcgaacagtgccgccgcc>gcc p.GGSNSAA62del NM_001497 NP_001488 P15291 B4GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA. 62 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) TGCCCGATGGCGGCGGCACTGTTCGAGCCGCCCTGCAGCGG 0.738 --- 7 --- --- 4 --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT - - rs34222232 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:139277995_139277997delGCT uc004chh.3 - 14 1633_1635 c.1624_1626delAGC c.(1624-1626)agcdel p.S542del NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(4) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 --- 5 --- --- 8 ---